Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.44333031_44333047del | CA2654807824 | CFAP410 | c.361_373+4del n.2532_2544+4del n.420_432+4del n.477_489+4del c.238_250+4del c.436_448+4del c.37_49+4del n.564_576+4del c.565_577+4del c.310_322+4del n.571_583+4del | gnomAD v4 |
21 | g.44333039_44333102del | CA2654807832 | CFAP410 | c.309_372del (p.Ser103ArgfsTer3) n.2480_2543del n.368_431del n.425_488del c.186_249del (p.Ser62ArgfsTer3) c.384_447del (p.Ser128ArgfsTer3) c.-16_48del n.512_575del c.513_576del (p.Ser171ArgfsTer3) c.258_321del (p.Ser86ArgfsTer3) n.519_582del | gnomAD v4 |
21 | g.44333045G>A | CA512670827 | CFAP410 | c.361C>T (p.Leu121=) n.2532C>T n.420C>T n.477C>T c.238C>T (p.Leu80=) c.436C>T (p.Leu146=) c.37C>T (p.Leu13=) n.564C>T c.565C>T (p.Leu189=) c.310C>T (p.Leu104=) n.571C>T | COSMIC |
21 | g.44333045G>C | CA410456180 | CFAP410 | c.361C>G (p.Leu121Val) n.2532C>G n.420C>G n.477C>G c.238C>G (p.Leu80Val) c.436C>G (p.Leu146Val) c.37C>G (p.Leu13Val) n.564C>G c.565C>G (p.Leu189Val) c.310C>G (p.Leu104Val) n.571C>G | |
21 | g.44333045G>T | CA410456183 | CFAP410 | c.361C>A (p.Leu121Met) n.2532C>A n.420C>A n.477C>A c.238C>A (p.Leu80Met) c.436C>A (p.Leu146Met) c.37C>A (p.Leu13Met) n.564C>A c.565C>A (p.Leu189Met) c.310C>A (p.Leu104Met) n.571C>A | gnomAD v4 |
21 | g.44333046C>A | CA410456187 | CFAP410 | c.360G>T (p.Lys120Asn) n.2531G>T n.419G>T n.476G>T c.237G>T (p.Lys79Asn) c.435G>T (p.Lys145Asn) c.36G>T (p.Lys12Asn) n.563G>T c.564G>T (p.Lys188Asn) c.309G>T (p.Lys103Asn) n.570G>T | gnomAD v4 |
21 | g.44333046C= | CA2391590910 | CFAP410 | c.360G= (p.Lys120=) n.2531G= n.419G= n.476G= c.237G= (p.Lys79=) c.435G= (p.Lys145=) c.36G= (p.Lys12=) n.563G= c.564G= (p.Lys188=) c.309G= (p.Lys103=) n.570G= | |
21 | g.44333046C>G | CA10053713 | CFAP410 | c.360G>C (p.Lys120Asn) n.2531G>C n.419G>C n.476G>C c.237G>C (p.Lys79Asn) c.435G>C (p.Lys145Asn) c.36G>C (p.Lys12Asn) n.563G>C c.564G>C (p.Lys188Asn) c.309G>C (p.Lys103Asn) n.570G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333046C>T | CA512670828 | CFAP410 | c.360G>A (p.Lys120=) n.2531G>A n.419G>A n.476G>A c.237G>A (p.Lys79=) c.435G>A (p.Lys145=) c.36G>A (p.Lys12=) n.563G>A c.564G>A (p.Lys188=) c.309G>A (p.Lys103=) n.570G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333047T>A | CA410456191 | CFAP410 | c.359A>T (p.Lys120Met) n.2530A>T n.418A>T n.475A>T c.236A>T (p.Lys79Met) c.434A>T (p.Lys145Met) c.35A>T (p.Lys12Met) n.562A>T c.563A>T (p.Lys188Met) c.308A>T (p.Lys103Met) n.569A>T | |
21 | g.44333047T>C | CA410456192 | CFAP410 | c.359A>G (p.Lys120Arg) n.2530A>G n.418A>G n.475A>G c.236A>G (p.Lys79Arg) c.434A>G (p.Lys145Arg) c.35A>G (p.Lys12Arg) n.562A>G c.563A>G (p.Lys188Arg) c.308A>G (p.Lys103Arg) n.569A>G | gnomAD v4 |
21 | g.44333047T>G | CA410456194 | CFAP410 | c.359A>C (p.Lys120Thr) n.2530A>C n.418A>C n.475A>C c.236A>C (p.Lys79Thr) c.434A>C (p.Lys145Thr) c.35A>C (p.Lys12Thr) n.562A>C c.563A>C (p.Lys188Thr) c.308A>C (p.Lys103Thr) n.569A>C | |
21 | g.44333048T>A | CA410456199 | CFAP410 | c.358A>T (p.Lys120Ter) n.2529A>T n.417A>T n.474A>T c.235A>T (p.Lys79Ter) c.433A>T (p.Lys145Ter) c.34A>T (p.Lys12Ter) n.561A>T c.562A>T (p.Lys188Ter) c.307A>T (p.Lys103Ter) n.568A>T | |
21 | g.44333048T>C | CA410456198 | CFAP410 | c.358A>G (p.Lys120Glu) n.2529A>G n.417A>G n.474A>G c.235A>G (p.Lys79Glu) c.433A>G (p.Lys145Glu) c.34A>G (p.Lys12Glu) n.561A>G c.562A>G (p.Lys188Glu) c.307A>G (p.Lys103Glu) n.568A>G | |
21 | g.44333048T>G | CA410456196 | CFAP410 | c.358A>C (p.Lys120Gln) n.2529A>C n.417A>C n.474A>C c.235A>C (p.Lys79Gln) c.433A>C (p.Lys145Gln) c.34A>C (p.Lys12Gln) n.561A>C c.562A>C (p.Lys188Gln) c.307A>C (p.Lys103Gln) n.568A>C | |
21 | g.44333049C>A | CA410456200 | CFAP410 | c.357G>T (p.Gln119His) n.2528G>T n.416G>T n.473G>T c.234G>T (p.Gln78His) c.432G>T (p.Gln144His) c.33G>T (p.Gln11His) n.560G>T c.561G>T (p.Gln187His) c.306G>T (p.Gln102His) n.567G>T | |
21 | g.44333049C= | CA2391590911 | CFAP410 | c.357G= (p.Gln119=) n.2528G= n.416G= n.473G= c.234G= (p.Gln78=) c.432G= (p.Gln144=) c.33G= (p.Gln11=) n.560G= c.561G= (p.Gln187=) c.306G= (p.Gln102=) n.567G= | |
21 | g.44333049C>G | CA410456202 | CFAP410 | c.357G>C (p.Gln119His) n.2528G>C n.416G>C n.473G>C c.234G>C (p.Gln78His) c.432G>C (p.Gln144His) c.33G>C (p.Gln11His) n.560G>C c.561G>C (p.Gln187His) c.306G>C (p.Gln102His) n.567G>C | |
21 | g.44333049C>T | CA512670829 | CFAP410 | c.357G>A (p.Gln119=) n.2528G>A n.416G>A n.473G>A c.234G>A (p.Gln78=) c.432G>A (p.Gln144=) c.33G>A (p.Gln11=) n.560G>A c.561G>A (p.Gln187=) c.306G>A (p.Gln102=) n.567G>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333050T>A | CA410456205 | CFAP410 | c.356A>T (p.Gln119Leu) n.2527A>T n.415A>T n.472A>T c.233A>T (p.Gln78Leu) c.431A>T (p.Gln144Leu) c.32A>T (p.Gln11Leu) n.559A>T c.560A>T (p.Gln187Leu) c.305A>T (p.Gln102Leu) n.566A>T | |
21 | g.44333050T>C | CA410456206 | CFAP410 | c.356A>G (p.Gln119Arg) n.2527A>G n.415A>G n.472A>G c.233A>G (p.Gln78Arg) c.431A>G (p.Gln144Arg) c.32A>G (p.Gln11Arg) n.559A>G c.560A>G (p.Gln187Arg) c.305A>G (p.Gln102Arg) n.566A>G | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333050T>G | CA410456208 | CFAP410 | c.356A>C (p.Gln119Pro) n.2527A>C n.415A>C n.472A>C c.233A>C (p.Gln78Pro) c.431A>C (p.Gln144Pro) c.32A>C (p.Gln11Pro) n.559A>C c.560A>C (p.Gln187Pro) c.305A>C (p.Gln102Pro) n.566A>C | |
21 | g.44333050T= | CA2391590912 | CFAP410 | c.356A= (p.Gln119=) n.2527A= n.415A= n.472A= c.233A= (p.Gln78=) c.431A= (p.Gln144=) c.32A= (p.Gln11=) n.559A= c.560A= (p.Gln187=) c.305A= (p.Gln102=) n.566A= | |
21 | g.44333051G>A | CA410456210 | CFAP410 | c.355C>T (p.Gln119Ter) n.2526C>T n.414C>T n.471C>T c.232C>T (p.Gln78Ter) c.430C>T (p.Gln144Ter) c.31C>T (p.Gln11Ter) n.558C>T c.559C>T (p.Gln187Ter) c.304C>T (p.Gln102Ter) n.565C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333051G>C | CA410456212 | CFAP410 | c.355C>G (p.Gln119Glu) n.2526C>G n.414C>G n.471C>G c.232C>G (p.Gln78Glu) c.430C>G (p.Gln144Glu) c.31C>G (p.Gln11Glu) n.558C>G c.559C>G (p.Gln187Glu) c.304C>G (p.Gln102Glu) n.565C>G | |
21 | g.44333051G= | CA2391590913 | CFAP410 | c.355C= (p.Gln119=) n.2526C= n.414C= n.471C= c.232C= (p.Gln78=) c.430C= (p.Gln144=) c.31C= (p.Gln11=) n.558C= c.559C= (p.Gln187=) c.304C= (p.Gln102=) n.565C= | |
21 | g.44333051G>T | CA410456213 | CFAP410 | c.355C>A (p.Gln119Lys) n.2526C>A n.414C>A n.471C>A c.232C>A (p.Gln78Lys) c.430C>A (p.Gln144Lys) c.31C>A (p.Gln11Lys) n.558C>A c.559C>A (p.Gln187Lys) c.304C>A (p.Gln102Lys) n.565C>A | gnomAD v4 |
21 | g.44333052_44333054del | CA2573157695 | CFAP410 | c.353_355del (p.Leu118del) n.2524_2526del n.412_414del n.469_471del c.230_232del (p.Leu77del) c.428_430del (p.Leu143del) c.29_31del (p.Leu10del) n.556_558del c.557_559del (p.Leu186del) c.302_304del (p.Leu101del) n.563_565del | ClinVar dbSNP gnomAD v4 |
21 | g.44333052T>A | CA512670830 | CFAP410 | c.354A>T (p.Leu118=) n.2525A>T n.413A>T n.470A>T c.231A>T (p.Leu77=) c.429A>T (p.Leu143=) c.30A>T (p.Leu10=) n.557A>T c.558A>T (p.Leu186=) c.303A>T (p.Leu101=) n.564A>T | |
21 | g.44333052T>C | CA512670831 | CFAP410 | c.354A>G (p.Leu118=) n.2525A>G n.413A>G n.470A>G c.231A>G (p.Leu77=) c.429A>G (p.Leu143=) c.30A>G (p.Leu10=) n.557A>G c.558A>G (p.Leu186=) c.303A>G (p.Leu101=) n.564A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.44333052T>G | CA512670832 | CFAP410 | c.354A>C (p.Leu118=) n.2525A>C n.413A>C n.470A>C c.231A>C (p.Leu77=) c.429A>C (p.Leu143=) c.30A>C (p.Leu10=) n.557A>C c.558A>C (p.Leu186=) c.303A>C (p.Leu101=) n.564A>C | |
21 | g.44333052T= | CA2391590914 | CFAP410 | c.354A= (p.Leu118=) n.2525A= n.413A= n.470A= c.231A= (p.Leu77=) c.429A= (p.Leu143=) c.30A= (p.Leu10=) n.557A= c.558A= (p.Leu186=) c.303A= (p.Leu101=) n.564A= | |
21 | g.44333053A>C | CA410456215 | CFAP410 | c.353T>G (p.Leu118Arg) n.2524T>G n.412T>G n.469T>G c.230T>G (p.Leu77Arg) c.428T>G (p.Leu143Arg) c.29T>G (p.Leu10Arg) n.556T>G c.557T>G (p.Leu186Arg) c.302T>G (p.Leu101Arg) n.563T>G | |
21 | g.44333053A>G | CA410456216 | CFAP410 | c.353T>C (p.Leu118Pro) n.2524T>C n.412T>C n.469T>C c.230T>C (p.Leu77Pro) c.428T>C (p.Leu143Pro) c.29T>C (p.Leu10Pro) n.556T>C c.557T>C (p.Leu186Pro) c.302T>C (p.Leu101Pro) n.563T>C | gnomAD v4 |
21 | g.44333053A>T | CA410456218 | CFAP410 | c.353T>A (p.Leu118Gln) n.2524T>A n.412T>A n.469T>A c.230T>A (p.Leu77Gln) c.428T>A (p.Leu143Gln) c.29T>A (p.Leu10Gln) n.556T>A c.557T>A (p.Leu186Gln) c.302T>A (p.Leu101Gln) n.563T>A | |
21 | g.44333054G>A | CA512670833 | CFAP410 | c.352C>T (p.Leu118=) n.2523C>T n.411C>T n.468C>T c.229C>T (p.Leu77=) c.427C>T (p.Leu143=) c.28C>T (p.Leu10=) n.555C>T c.556C>T (p.Leu186=) c.301C>T (p.Leu101=) n.562C>T | gnomAD v2 |
21 | g.44333054G>C | CA410456224 | CFAP410 | c.352C>G (p.Leu118Val) n.2523C>G n.411C>G n.468C>G c.229C>G (p.Leu77Val) c.427C>G (p.Leu143Val) c.28C>G (p.Leu10Val) n.555C>G c.556C>G (p.Leu186Val) c.301C>G (p.Leu101Val) n.562C>G | |
21 | g.44333054G= | CA2391590915 | CFAP410 | c.352C= (p.Leu118=) n.2523C= n.411C= n.468C= c.229C= (p.Leu77=) c.427C= (p.Leu143=) c.28C= (p.Leu10=) n.555C= c.556C= (p.Leu186=) c.301C= (p.Leu101=) n.562C= | |
21 | g.44333054G>T | CA410456222 | CFAP410 | c.352C>A (p.Leu118Ile) n.2523C>A n.411C>A n.468C>A c.229C>A (p.Leu77Ile) c.427C>A (p.Leu143Ile) c.28C>A (p.Leu10Ile) n.555C>A c.556C>A (p.Leu186Ile) c.301C>A (p.Leu101Ile) n.562C>A | gnomAD v4 |
21 | g.44333054_44333055insCGCGGCAGGGTG | CA2695230204 | CFAP410 | c.352_353insACCCTGCCGCGC (p.Arg117_Leu118insHisProAlaAla) n.2523_2524insACCCTGCCGCGC n.411_412insACCCTGCCGCGC n.468_469insACCCTGCCGCGC c.229_230insACCCTGCCGCGC (p.Arg76_Leu77insHisProAlaAla) c.427_428insACCCTGCCGCGC (p.Arg142_Leu143insHisProAlaAla) c.28_29insACCCTGCCGCGC (p.Arg9_Leu10insHisProAlaAla) n.555_556insACCCTGCCGCGC c.556_557insACCCTGCCGCGC (p.Arg185_Leu186insHisProAlaAla) c.301_302insACCCTGCCGCGC (p.Arg100_Leu101insHisProAlaAla) n.562_563insACCCTGCCGCGC | |
21 | g.44333055G>A | CA321784768 | CFAP410 | c.351C>T (p.Arg117=) n.2522C>T n.410C>T n.467C>T c.228C>T (p.Arg76=) c.426C>T (p.Arg142=) c.27C>T (p.Arg9=) n.554C>T c.555C>T (p.Arg185=) c.300C>T (p.Arg100=) n.561C>T | ClinVar dbSNP gnomAD v4 |
21 | g.44333055G>C | CA512670835 | CFAP410 | c.351C>G (p.Arg117=) n.2522C>G n.410C>G n.467C>G c.228C>G (p.Arg76=) c.426C>G (p.Arg142=) c.27C>G (p.Arg9=) n.554C>G c.555C>G (p.Arg185=) c.300C>G (p.Arg100=) n.561C>G | |
21 | g.44333055G= | CA2391590916 | CFAP410 | c.351C= (p.Arg117=) n.2522C= n.410C= n.467C= c.228C= (p.Arg76=) c.426C= (p.Arg142=) c.27C= (p.Arg9=) n.554C= c.555C= (p.Arg185=) c.300C= (p.Arg100=) n.561C= | |
21 | g.44333055G>T | CA512670834 | CFAP410 | c.351C>A (p.Arg117=) n.2522C>A n.410C>A n.467C>A c.228C>A (p.Arg76=) c.426C>A (p.Arg142=) c.27C>A (p.Arg9=) n.554C>A c.555C>A (p.Arg185=) c.300C>A (p.Arg100=) n.561C>A | |
21 | g.44333059_44333070dup | CA638494153 | CFAP410 | c.340_351dup (p.Arg117_Leu118insThrLeuProArg) n.2511_2522dup n.399_410dup n.456_467dup c.217_228dup (p.Arg76_Leu77insThrLeuProArg) c.415_426dup (p.Arg142_Leu143insThrLeuProArg) c.16_27dup (p.Arg9_Leu10insThrLeuProArg) n.543_554dup c.544_555dup (p.Arg185_Leu186insThrLeuProArg) c.289_300dup (p.Arg100_Leu101insThrLeuProArg) n.550_561dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333056C>A | CA410456226 | CFAP410 | c.350G>T (p.Arg117Leu) n.2521G>T n.409G>T n.466G>T c.227G>T (p.Arg76Leu) c.425G>T (p.Arg142Leu) c.26G>T (p.Arg9Leu) n.553G>T c.554G>T (p.Arg185Leu) c.299G>T (p.Arg100Leu) n.560G>T | |
21 | g.44333056C= | CA2391590917 | CFAP410 | c.350G= (p.Arg117=) n.2521G= n.409G= n.466G= c.227G= (p.Arg76=) c.425G= (p.Arg142=) c.26G= (p.Arg9=) n.553G= c.554G= (p.Arg185=) c.299G= (p.Arg100=) n.560G= | |
21 | g.44333056C>G | CA321784770 | CFAP410 | c.350G>C (p.Arg117Pro) n.2521G>C n.409G>C n.466G>C c.227G>C (p.Arg76Pro) c.425G>C (p.Arg142Pro) c.26G>C (p.Arg9Pro) n.553G>C c.554G>C (p.Arg185Pro) c.299G>C (p.Arg100Pro) n.560G>C | dbSNP gnomAD v4 |
21 | g.44333056C>T | CA10053714 | CFAP410 | c.350G>A (p.Arg117His) n.2521G>A n.409G>A n.466G>A c.227G>A (p.Arg76His) c.425G>A (p.Arg142His) c.26G>A (p.Arg9His) n.553G>A c.554G>A (p.Arg185His) c.299G>A (p.Arg100His) n.560G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333057G>A | CA10053715 | CFAP410 | c.349C>T (p.Arg117Cys) n.2520C>T n.408C>T n.465C>T c.226C>T (p.Arg76Cys) c.424C>T (p.Arg142Cys) c.25C>T (p.Arg9Cys) n.552C>T c.553C>T (p.Arg185Cys) c.298C>T (p.Arg100Cys) n.559C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333057G>C | CA410456230 | CFAP410 | c.349C>G (p.Arg117Gly) n.2520C>G n.408C>G n.465C>G c.226C>G (p.Arg76Gly) c.424C>G (p.Arg142Gly) c.25C>G (p.Arg9Gly) n.552C>G c.553C>G (p.Arg185Gly) c.298C>G (p.Arg100Gly) n.559C>G | |
21 | g.44333057G= | CA2391590918 | CFAP410 | c.349C= (p.Arg117=) n.2520C= n.408C= n.465C= c.226C= (p.Arg76=) c.424C= (p.Arg142=) c.25C= (p.Arg9=) n.552C= c.553C= (p.Arg185=) c.298C= (p.Arg100=) n.559C= | |
21 | g.44333057G>T | CA410456234 | CFAP410 | c.349C>A (p.Arg117Ser) n.2520C>A n.408C>A n.465C>A c.226C>A (p.Arg76Ser) c.424C>A (p.Arg142Ser) c.25C>A (p.Arg9Ser) n.552C>A c.553C>A (p.Arg185Ser) c.298C>A (p.Arg100Ser) n.559C>A | gnomAD v4 |
21 | g.44333058C>A | CA512670836 | CFAP410 | c.348G>T (p.Pro116=) n.2519G>T n.407G>T n.464G>T c.225G>T (p.Pro75=) c.423G>T (p.Pro141=) c.24G>T (p.Pro8=) n.551G>T c.552G>T (p.Pro184=) c.297G>T (p.Pro99=) n.558G>T | gnomAD v4 |
21 | g.44333058C= | CA2391590919 | CFAP410 | c.348G= (p.Pro116=) n.2519G= n.407G= n.464G= c.225G= (p.Pro75=) c.423G= (p.Pro141=) c.24G= (p.Pro8=) n.551G= c.552G= (p.Pro184=) c.297G= (p.Pro99=) n.558G= | |
21 | g.44333058C>G | CA512670837 | CFAP410 | c.348G>C (p.Pro116=) n.2519G>C n.407G>C n.464G>C c.225G>C (p.Pro75=) c.423G>C (p.Pro141=) c.24G>C (p.Pro8=) n.551G>C c.552G>C (p.Pro184=) c.297G>C (p.Pro99=) n.558G>C | |
21 | g.44333058C>T | CA512670838 | CFAP410 | c.348G>A (p.Pro116=) n.2519G>A n.407G>A n.464G>A c.225G>A (p.Pro75=) c.423G>A (p.Pro141=) c.24G>A (p.Pro8=) n.551G>A c.552G>A (p.Pro184=) c.297G>A (p.Pro99=) n.558G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333059G>A | CA10053716 | CFAP410 | c.347C>T (p.Pro116Leu) n.2518C>T n.406C>T n.463C>T c.224C>T (p.Pro75Leu) c.422C>T (p.Pro141Leu) c.23C>T (p.Pro8Leu) n.550C>T c.551C>T (p.Pro184Leu) c.296C>T (p.Pro99Leu) n.557C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.44333059G>C | CA410456238 | CFAP410 | c.347C>G (p.Pro116Arg) n.2518C>G n.406C>G n.463C>G c.224C>G (p.Pro75Arg) c.422C>G (p.Pro141Arg) c.23C>G (p.Pro8Arg) n.550C>G c.551C>G (p.Pro184Arg) c.296C>G (p.Pro99Arg) n.557C>G | |
21 | g.44333059G= | CA2391590920 | CFAP410 | c.347C= (p.Pro116=) n.2518C= n.406C= n.463C= c.224C= (p.Pro75=) c.422C= (p.Pro141=) c.23C= (p.Pro8=) n.550C= c.551C= (p.Pro184=) c.296C= (p.Pro99=) n.557C= | |
21 | g.44333059G>T | CA410456240 | CFAP410 | c.347C>A (p.Pro116Gln) n.2518C>A n.406C>A n.463C>A c.224C>A (p.Pro75Gln) c.422C>A (p.Pro141Gln) c.23C>A (p.Pro8Gln) n.550C>A c.551C>A (p.Pro184Gln) c.296C>A (p.Pro99Gln) n.557C>A | gnomAD v4 |
21 | g.44333059_44333071delinsGGCAGGGTGCGCA | CA2391590921 | CFAP410 | c.335_347delinsTGCGCACCCTGCC (p.Leu112=) n.2506_2518delinsTGCGCACCCTGCC n.394_406delinsTGCGCACCCTGCC n.451_463delinsTGCGCACCCTGCC c.212_224delinsTGCGCACCCTGCC (p.Leu71=) c.410_422delinsTGCGCACCCTGCC (p.Leu137=) c.11_23delinsTGCGCACCCTGCC (p.Leu4=) n.538_550delinsTGCGCACCCTGCC c.539_551delinsTGCGCACCCTGCC (p.Leu180=) c.284_296delinsTGCGCACCCTGCC (p.Leu95=) n.545_557delinsTGCGCACCCTGCC | |
21 | g.44333060G>A | CA410456242 | CFAP410 | c.346C>T (p.Pro116Ser) n.2517C>T n.405C>T n.462C>T c.223C>T (p.Pro75Ser) c.421C>T (p.Pro141Ser) c.22C>T (p.Pro8Ser) n.549C>T c.550C>T (p.Pro184Ser) c.295C>T (p.Pro99Ser) n.556C>T | gnomAD v4 |
21 | g.44333060G>C | CA410456245 | CFAP410 | c.346C>G (p.Pro116Ala) n.2517C>G n.405C>G n.462C>G c.223C>G (p.Pro75Ala) c.421C>G (p.Pro141Ala) c.22C>G (p.Pro8Ala) n.549C>G c.550C>G (p.Pro184Ala) c.295C>G (p.Pro99Ala) n.556C>G | |
21 | g.44333060G>T | CA410456247 | CFAP410 | c.346C>A (p.Pro116Thr) n.2517C>A n.405C>A n.462C>A c.223C>A (p.Pro75Thr) c.421C>A (p.Pro141Thr) c.22C>A (p.Pro8Thr) n.549C>A c.550C>A (p.Pro184Thr) c.295C>A (p.Pro99Thr) n.556C>A | gnomAD v4 |
21 | g.44333063_44333074del | CA10053717 | CFAP410 | c.335_346del (p.Leu112_Leu115del) n.2506_2517del n.394_405del n.451_462del c.212_223del (p.Leu71_Leu74del) c.410_421del (p.Leu137_Leu140del) c.11_22del (p.Leu4_Leu7del) n.538_549del c.539_550del (p.Leu180_Leu183del) c.284_295del (p.Leu95_Leu98del) n.545_556del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333061C>A | CA512670839 | CFAP410 | c.345G>T (p.Leu115=) n.2516G>T n.404G>T n.461G>T c.222G>T (p.Leu74=) c.420G>T (p.Leu140=) c.21G>T (p.Leu7=) n.548G>T c.549G>T (p.Leu183=) c.294G>T (p.Leu98=) n.555G>T | gnomAD v4 |
21 | g.44333061C>G | CA512670840 | CFAP410 | c.345G>C (p.Leu115=) n.2516G>C n.404G>C n.461G>C c.222G>C (p.Leu74=) c.420G>C (p.Leu140=) c.21G>C (p.Leu7=) n.548G>C c.549G>C (p.Leu183=) c.294G>C (p.Leu98=) n.555G>C | |
21 | g.44333061C>T | CA512670841 | CFAP410 | c.345G>A (p.Leu115=) n.2516G>A n.404G>A n.461G>A c.222G>A (p.Leu74=) c.420G>A (p.Leu140=) c.21G>A (p.Leu7=) n.548G>A c.549G>A (p.Leu183=) c.294G>A (p.Leu98=) n.555G>A | gnomAD v4 |
21 | g.44333062A= | CA2391590922 | CFAP410 | c.344T= (p.Leu115=) n.2515T= n.403T= n.460T= c.221T= (p.Leu74=) c.419T= (p.Leu140=) c.20T= (p.Leu7=) n.547T= c.548T= (p.Leu183=) c.293T= (p.Leu98=) n.554T= | |
21 | g.44333062A>C | CA410456261 | CFAP410 | c.344T>G (p.Leu115Arg) n.2515T>G n.403T>G n.460T>G c.221T>G (p.Leu74Arg) c.419T>G (p.Leu140Arg) c.20T>G (p.Leu7Arg) n.547T>G c.548T>G (p.Leu183Arg) c.293T>G (p.Leu98Arg) n.554T>G | |
21 | g.44333062A>G | CA410456257 | CFAP410 | c.344T>C (p.Leu115Pro) n.2515T>C n.403T>C n.460T>C c.221T>C (p.Leu74Pro) c.419T>C (p.Leu140Pro) c.20T>C (p.Leu7Pro) n.547T>C c.548T>C (p.Leu183Pro) c.293T>C (p.Leu98Pro) n.554T>C | dbSNP gnomAD v2 |
21 | g.44333062A>T | CA410456259 | CFAP410 | c.344T>A (p.Leu115Gln) n.2515T>A n.403T>A n.460T>A c.221T>A (p.Leu74Gln) c.419T>A (p.Leu140Gln) c.20T>A (p.Leu7Gln) n.547T>A c.548T>A (p.Leu183Gln) c.293T>A (p.Leu98Gln) n.554T>A | |
21 | g.44333063G>A | CA512670842 | CFAP410 | c.343C>T (p.Leu115=) n.2514C>T n.402C>T n.459C>T c.220C>T (p.Leu74=) c.418C>T (p.Leu140=) c.19C>T (p.Leu7=) n.546C>T c.547C>T (p.Leu183=) c.292C>T (p.Leu98=) n.553C>T | |
21 | g.44333063G>C | CA10053718 | CFAP410 | c.343C>G (p.Leu115Val) n.2514C>G n.402C>G n.459C>G c.220C>G (p.Leu74Val) c.418C>G (p.Leu140Val) c.19C>G (p.Leu7Val) n.546C>G c.547C>G (p.Leu183Val) c.292C>G (p.Leu98Val) n.553C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333063G= | CA2391590923 | CFAP410 | c.343C= (p.Leu115=) n.2514C= n.402C= n.459C= c.220C= (p.Leu74=) c.418C= (p.Leu140=) c.19C= (p.Leu7=) n.546C= c.547C= (p.Leu183=) c.292C= (p.Leu98=) n.553C= | |
21 | g.44333063G>T | CA410456262 | CFAP410 | c.343C>A (p.Leu115Met) n.2514C>A n.402C>A n.459C>A c.220C>A (p.Leu74Met) c.418C>A (p.Leu140Met) c.19C>A (p.Leu7Met) n.546C>A c.547C>A (p.Leu183Met) c.292C>A (p.Leu98Met) n.553C>A | gnomAD v4 |
21 | g.44333064G>A | CA512670843 | CFAP410 | c.342C>T (p.Thr114=) n.2513C>T n.401C>T n.458C>T c.219C>T (p.Thr73=) c.417C>T (p.Thr139=) c.18C>T (p.Thr6=) n.545C>T c.546C>T (p.Thr182=) c.291C>T (p.Thr97=) n.552C>T | gnomAD v4 |
21 | g.44333064G>C | CA512670844 | CFAP410 | c.342C>G (p.Thr114=) n.2513C>G n.401C>G n.458C>G c.219C>G (p.Thr73=) c.417C>G (p.Thr139=) c.18C>G (p.Thr6=) n.545C>G c.546C>G (p.Thr182=) c.291C>G (p.Thr97=) n.552C>G | dbSNP |
21 | g.44333064G>T | CA512670845 | CFAP410 | c.342C>A (p.Thr114=) n.2513C>A n.401C>A n.458C>A c.219C>A (p.Thr73=) c.417C>A (p.Thr139=) c.18C>A (p.Thr6=) n.545C>A c.546C>A (p.Thr182=) c.291C>A (p.Thr97=) n.552C>A | |
21 | g.44333067_44333078dup | CA2573102945 | CFAP410 | c.331_342dup (p.Thr114_Leu115insValLeuArgThr) n.2502_2513dup n.390_401dup n.447_458dup c.208_219dup (p.Thr73_Leu74insValLeuArgThr) c.406_417dup (p.Thr139_Leu140insValLeuArgThr) c.7_18dup (p.Thr6_Leu7insValLeuArgThr) n.534_545dup c.535_546dup (p.Thr182_Leu183insValLeuArgThr) c.280_291dup (p.Thr97_Leu98insValLeuArgThr) n.541_552dup | ClinVar |
21 | g.44333065G>A | CA410456264 | CFAP410 | c.341C>T (p.Thr114Ile) n.2512C>T n.400C>T n.457C>T c.218C>T (p.Thr73Ile) c.416C>T (p.Thr139Ile) c.17C>T (p.Thr6Ile) n.544C>T c.545C>T (p.Thr182Ile) c.290C>T (p.Thr97Ile) n.551C>T | |
21 | g.44333065G>C | CA410456267 | CFAP410 | c.341C>G (p.Thr114Ser) n.2512C>G n.400C>G n.457C>G c.218C>G (p.Thr73Ser) c.416C>G (p.Thr139Ser) c.17C>G (p.Thr6Ser) n.544C>G c.545C>G (p.Thr182Ser) c.290C>G (p.Thr97Ser) n.551C>G | |
21 | g.44333065G= | CA2391590924 | CFAP410 | c.341C= (p.Thr114=) n.2512C= n.400C= n.457C= c.218C= (p.Thr73=) c.416C= (p.Thr139=) c.17C= (p.Thr6=) n.544C= c.545C= (p.Thr182=) c.290C= (p.Thr97=) n.551C= | |
21 | g.44333065G>T | CA410456268 | CFAP410 | c.341C>A (p.Thr114Asn) n.2512C>A n.400C>A n.457C>A c.218C>A (p.Thr73Asn) c.416C>A (p.Thr139Asn) c.17C>A (p.Thr6Asn) n.544C>A c.545C>A (p.Thr182Asn) c.290C>A (p.Thr97Asn) n.551C>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333066T>A | CA410456269 | CFAP410 | c.340A>T (p.Thr114Ser) n.2511A>T n.399A>T n.456A>T c.217A>T (p.Thr73Ser) c.415A>T (p.Thr139Ser) c.16A>T (p.Thr6Ser) n.543A>T c.544A>T (p.Thr182Ser) c.289A>T (p.Thr97Ser) n.550A>T | |
21 | g.44333066T>C | CA410456270 | CFAP410 | c.340A>G (p.Thr114Ala) n.2511A>G n.399A>G n.456A>G c.217A>G (p.Thr73Ala) c.415A>G (p.Thr139Ala) c.16A>G (p.Thr6Ala) n.543A>G c.544A>G (p.Thr182Ala) c.289A>G (p.Thr97Ala) n.550A>G | |
21 | g.44333066T>G | CA10053719 | CFAP410 | c.340A>C (p.Thr114Pro) n.2511A>C n.399A>C n.456A>C c.217A>C (p.Thr73Pro) c.415A>C (p.Thr139Pro) c.16A>C (p.Thr6Pro) n.543A>C c.544A>C (p.Thr182Pro) c.289A>C (p.Thr97Pro) n.550A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333066T= | CA2391590925 | CFAP410 | c.340A= (p.Thr114=) n.2511A= n.399A= n.456A= c.217A= (p.Thr73=) c.415A= (p.Thr139=) c.16A= (p.Thr6=) n.543A= c.544A= (p.Thr182=) c.289A= (p.Thr97=) n.550A= | |
21 | g.44333067G>A | CA10053720 | CFAP410 | c.339C>T (p.Arg113=) n.2510C>T n.398C>T n.455C>T c.216C>T (p.Arg72=) c.414C>T (p.Arg138=) c.15C>T (p.Arg5=) n.542C>T c.543C>T (p.Arg181=) c.288C>T (p.Arg96=) n.549C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333067G>C | CA512670846 | CFAP410 | c.339C>G (p.Arg113=) n.2510C>G n.398C>G n.455C>G c.216C>G (p.Arg72=) c.414C>G (p.Arg138=) c.15C>G (p.Arg5=) n.542C>G c.543C>G (p.Arg181=) c.288C>G (p.Arg96=) n.549C>G | |
21 | g.44333067G= | CA2391590926 | CFAP410 | c.339C= (p.Arg113=) n.2510C= n.398C= n.455C= c.216C= (p.Arg72=) c.414C= (p.Arg138=) c.15C= (p.Arg5=) n.542C= c.543C= (p.Arg181=) c.288C= (p.Arg96=) n.549C= | |
21 | g.44333067G>T | CA512670847 | CFAP410 | c.339C>A (p.Arg113=) n.2510C>A n.398C>A n.455C>A c.216C>A (p.Arg72=) c.414C>A (p.Arg138=) c.15C>A (p.Arg5=) n.542C>A c.543C>A (p.Arg181=) c.288C>A (p.Arg96=) n.549C>A | gnomAD v4 |
21 | g.44333068C>A | CA410456277 | CFAP410 | c.338G>T (p.Arg113Leu) n.2509G>T n.397G>T n.454G>T c.215G>T (p.Arg72Leu) c.413G>T (p.Arg138Leu) c.14G>T (p.Arg5Leu) n.541G>T c.542G>T (p.Arg181Leu) c.287G>T (p.Arg96Leu) n.548G>T | gnomAD v4 |
21 | g.44333068C= | CA2391590927 | CFAP410 | c.338G= (p.Arg113=) n.2509G= n.397G= n.454G= c.215G= (p.Arg72=) c.413G= (p.Arg138=) c.14G= (p.Arg5=) n.541G= c.542G= (p.Arg181=) c.287G= (p.Arg96=) n.548G= | |
21 | g.44333068C>G | CA410456278 | CFAP410 | c.338G>C (p.Arg113Pro) n.2509G>C n.397G>C n.454G>C c.215G>C (p.Arg72Pro) c.413G>C (p.Arg138Pro) c.14G>C (p.Arg5Pro) n.541G>C c.542G>C (p.Arg181Pro) c.287G>C (p.Arg96Pro) n.548G>C | gnomAD v4 |
21 | g.44333068C>T | CA10053721 | CFAP410 | c.338G>A (p.Arg113His) n.2509G>A n.397G>A n.454G>A c.215G>A (p.Arg72His) c.413G>A (p.Arg138His) c.14G>A (p.Arg5His) n.541G>A c.542G>A (p.Arg181His) c.287G>A (p.Arg96His) n.548G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333078_44333114del | CA2654807896 | CFAP410 | c.302_338del (p.Gly101AlafsTer14) n.2473_2509del n.361_397del n.418_454del c.179_215del (p.Gly60AlafsTer14) c.377_413del (p.Gly126AlafsTer14) c.-23_14del n.505_541del c.506_542del (p.Gly169AlafsTer14) c.251_287del (p.Gly84AlafsTer14) n.512_548del | gnomAD v4 |
21 | g.44333069G>A | CA10053722 | CFAP410 | c.337C>T (p.Arg113Cys) n.2508C>T n.396C>T n.453C>T c.214C>T (p.Arg72Cys) c.412C>T (p.Arg138Cys) c.13C>T (p.Arg5Cys) n.540C>T c.541C>T (p.Arg181Cys) c.286C>T (p.Arg96Cys) n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333069G>C | CA410456286 | CFAP410 | c.337C>G (p.Arg113Gly) n.2508C>G n.396C>G n.453C>G c.214C>G (p.Arg72Gly) c.412C>G (p.Arg138Gly) c.13C>G (p.Arg5Gly) n.540C>G c.541C>G (p.Arg181Gly) c.286C>G (p.Arg96Gly) n.547C>G | gnomAD v4 |
21 | g.44333069G= | CA2391590928 | CFAP410 | c.337C= (p.Arg113=) n.2508C= n.396C= n.453C= c.214C= (p.Arg72=) c.412C= (p.Arg138=) c.13C= (p.Arg5=) n.540C= c.541C= (p.Arg181=) c.286C= (p.Arg96=) n.547C= | |
21 | g.44333069G>T | CA410456284 | CFAP410 | c.337C>A (p.Arg113Ser) n.2508C>A n.396C>A n.453C>A c.214C>A (p.Arg72Ser) c.412C>A (p.Arg138Ser) c.13C>A (p.Arg5Ser) n.540C>A c.541C>A (p.Arg181Ser) c.286C>A (p.Arg96Ser) n.547C>A | dbSNP gnomAD v4 |
21 | g.44333070C>A | CA512670849 | CFAP410 | c.336G>T (p.Leu112=) n.2507G>T n.395G>T n.452G>T c.213G>T (p.Leu71=) c.411G>T (p.Leu137=) c.12G>T (p.Leu4=) n.539G>T c.540G>T (p.Leu180=) c.285G>T (p.Leu95=) n.546G>T | |
21 | g.44333070C>G | CA512670850 | CFAP410 | c.336G>C (p.Leu112=) n.2507G>C n.395G>C n.452G>C c.213G>C (p.Leu71=) c.411G>C (p.Leu137=) c.12G>C (p.Leu4=) n.539G>C c.540G>C (p.Leu180=) c.285G>C (p.Leu95=) n.546G>C | |
21 | g.44333070C>T | CA512670851 | CFAP410 | c.336G>A (p.Leu112=) n.2507G>A n.395G>A n.452G>A c.213G>A (p.Leu71=) c.411G>A (p.Leu137=) c.12G>A (p.Leu4=) n.539G>A c.540G>A (p.Leu180=) c.285G>A (p.Leu95=) n.546G>A | COSMIC |
21 | g.44333071A= | CA2391590929 | CFAP410 | c.335T= (p.Leu112=) n.2506T= n.394T= n.451T= c.212T= (p.Leu71=) c.410T= (p.Leu137=) c.11T= (p.Leu4=) n.538T= c.539T= (p.Leu180=) c.284T= (p.Leu95=) n.545T= | |
21 | g.44333071A>C | CA410456287 | CFAP410 | c.335T>G (p.Leu112Arg) n.2506T>G n.394T>G n.451T>G c.212T>G (p.Leu71Arg) c.410T>G (p.Leu137Arg) c.11T>G (p.Leu4Arg) n.538T>G c.539T>G (p.Leu180Arg) c.284T>G (p.Leu95Arg) n.545T>G | |
21 | g.44333071A>G | CA10053723 | CFAP410 | c.335T>C (p.Leu112Pro) n.2506T>C n.394T>C n.451T>C c.212T>C (p.Leu71Pro) c.410T>C (p.Leu137Pro) c.11T>C (p.Leu4Pro) n.538T>C c.539T>C (p.Leu180Pro) c.284T>C (p.Leu95Pro) n.545T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333071A>T | CA410456290 | CFAP410 | c.335T>A (p.Leu112Gln) n.2506T>A n.394T>A n.451T>A c.212T>A (p.Leu71Gln) c.410T>A (p.Leu137Gln) c.11T>A (p.Leu4Gln) n.538T>A c.539T>A (p.Leu180Gln) c.284T>A (p.Leu95Gln) n.545T>A | |
21 | g.44333072G>A | CA512670860 | CFAP410 | c.334C>T (p.Leu112=) n.2505C>T n.393C>T n.450C>T c.211C>T (p.Leu71=) c.409C>T (p.Leu137=) c.10C>T (p.Leu4=) n.537C>T c.538C>T (p.Leu180=) c.283C>T (p.Leu95=) n.544C>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333072G>C | CA410456295 | CFAP410 | c.334C>G (p.Leu112Val) n.2505C>G n.393C>G n.450C>G c.211C>G (p.Leu71Val) c.409C>G (p.Leu137Val) c.10C>G (p.Leu4Val) n.537C>G c.538C>G (p.Leu180Val) c.283C>G (p.Leu95Val) n.544C>G | |
21 | g.44333072G= | CA2391590930 | CFAP410 | c.334C= (p.Leu112=) n.2505C= n.393C= n.450C= c.211C= (p.Leu71=) c.409C= (p.Leu137=) c.10C= (p.Leu4=) n.537C= c.538C= (p.Leu180=) c.283C= (p.Leu95=) n.544C= | |
21 | g.44333072G>T | CA410456296 | CFAP410 | c.334C>A (p.Leu112Met) n.2505C>A n.393C>A n.450C>A c.211C>A (p.Leu71Met) c.409C>A (p.Leu137Met) c.10C>A (p.Leu4Met) n.537C>A c.538C>A (p.Leu180Met) c.283C>A (p.Leu95Met) n.544C>A | |
21 | g.44333073C>A | CA512670862 | CFAP410 | c.333G>T (p.Val111=) n.2504G>T n.392G>T n.449G>T c.210G>T (p.Val70=) c.408G>T (p.Val136=) c.9G>T (p.Val3=) n.536G>T c.537G>T (p.Val179=) c.282G>T (p.Val94=) n.543G>T | |
21 | g.44333073C>G | CA512670865 | CFAP410 | c.333G>C (p.Val111=) n.2504G>C n.392G>C n.449G>C c.210G>C (p.Val70=) c.408G>C (p.Val136=) c.9G>C (p.Val3=) n.536G>C c.537G>C (p.Val179=) c.282G>C (p.Val94=) n.543G>C | |
21 | g.44333073C>T | CA512670863 | CFAP410 | c.333G>A (p.Val111=) n.2504G>A n.392G>A n.449G>A c.210G>A (p.Val70=) c.408G>A (p.Val136=) c.9G>A (p.Val3=) n.536G>A c.537G>A (p.Val179=) c.282G>A (p.Val94=) n.543G>A | |
21 | g.44333074A>C | CA410456299 | CFAP410 | c.332T>G (p.Val111Gly) n.2503T>G n.391T>G n.448T>G c.209T>G (p.Val70Gly) c.407T>G (p.Val136Gly) c.8T>G (p.Val3Gly) n.535T>G c.536T>G (p.Val179Gly) c.281T>G (p.Val94Gly) n.542T>G | |
21 | g.44333074A>G | CA410456298 | CFAP410 | c.332T>C (p.Val111Ala) n.2503T>C n.391T>C n.448T>C c.209T>C (p.Val70Ala) c.407T>C (p.Val136Ala) c.8T>C (p.Val3Ala) n.535T>C c.536T>C (p.Val179Ala) c.281T>C (p.Val94Ala) n.542T>C | gnomAD v4 |
21 | g.44333074A>T | CA410456297 | CFAP410 | c.332T>A (p.Val111Glu) n.2503T>A n.391T>A n.448T>A c.209T>A (p.Val70Glu) c.407T>A (p.Val136Glu) c.8T>A (p.Val3Glu) n.535T>A c.536T>A (p.Val179Glu) c.281T>A (p.Val94Glu) n.542T>A | |
21 | g.44333075C>A | CA410456304 | CFAP410 | c.331G>T (p.Val111Leu) n.2502G>T n.390G>T n.447G>T c.208G>T (p.Val70Leu) c.406G>T (p.Val136Leu) c.7G>T (p.Val3Leu) n.534G>T c.535G>T (p.Val179Leu) c.280G>T (p.Val94Leu) n.541G>T | |
21 | g.44333075C= | CA2391590931 | CFAP410 | c.331G= (p.Val111=) n.2502G= n.390G= n.447G= c.208G= (p.Val70=) c.406G= (p.Val136=) c.7G= (p.Val3=) n.534G= c.535G= (p.Val179=) c.280G= (p.Val94=) n.541G= | |
21 | g.44333075C>G | CA321784791 | CFAP410 | c.331G>C (p.Val111Leu) n.2502G>C n.390G>C n.447G>C c.208G>C (p.Val70Leu) c.406G>C (p.Val136Leu) c.7G>C (p.Val3Leu) n.534G>C c.535G>C (p.Val179Leu) c.280G>C (p.Val94Leu) n.541G>C | dbSNP gnomAD v3 gnomAD v4 |
21 | g.44333075C>T | CA10053724 | CFAP410 | c.331G>A (p.Val111Met) n.2502G>A n.390G>A n.447G>A c.208G>A (p.Val70Met) c.406G>A (p.Val136Met) c.7G>A (p.Val3Met) n.534G>A c.535G>A (p.Val179Met) c.280G>A (p.Val94Met) n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.44333076G>A | CA10053725 | CFAP410 | c.330C>T (p.Thr110=) n.2501C>T n.389C>T n.446C>T c.207C>T (p.Thr69=) c.405C>T (p.Thr135=) c.6C>T (p.Thr2=) n.533C>T c.534C>T (p.Thr178=) c.279C>T (p.Thr93=) n.540C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333076G>C | CA512670870 | CFAP410 | c.330C>G (p.Thr110=) n.2501C>G n.389C>G n.446C>G c.207C>G (p.Thr69=) c.405C>G (p.Thr135=) c.6C>G (p.Thr2=) n.533C>G c.534C>G (p.Thr178=) c.279C>G (p.Thr93=) n.540C>G | gnomAD v4 |
21 | g.44333076G= | CA2391590932 | CFAP410 | c.330C= (p.Thr110=) n.2501C= n.389C= n.446C= c.207C= (p.Thr69=) c.405C= (p.Thr135=) c.6C= (p.Thr2=) n.533C= c.534C= (p.Thr178=) c.279C= (p.Thr93=) n.540C= | |
21 | g.44333076G>T | CA512670872 | CFAP410 | c.330C>A (p.Thr110=) n.2501C>A n.389C>A n.446C>A c.207C>A (p.Thr69=) c.405C>A (p.Thr135=) c.6C>A (p.Thr2=) n.533C>A c.534C>A (p.Thr178=) c.279C>A (p.Thr93=) n.540C>A | gnomAD v4 |
21 | g.44333077G>A | CA410456313 | CFAP410 | c.329C>T (p.Thr110Ile) n.2500C>T n.388C>T n.445C>T c.206C>T (p.Thr69Ile) c.404C>T (p.Thr135Ile) c.5C>T (p.Thr2Ile) n.532C>T c.533C>T (p.Thr178Ile) c.278C>T (p.Thr93Ile) n.539C>T | |
21 | g.44333077G>C | CA410456316 | CFAP410 | c.329C>G (p.Thr110Ser) n.2500C>G n.388C>G n.445C>G c.206C>G (p.Thr69Ser) c.404C>G (p.Thr135Ser) c.5C>G (p.Thr2Ser) n.532C>G c.533C>G (p.Thr178Ser) c.278C>G (p.Thr93Ser) n.539C>G | |
21 | g.44333077G>T | CA410456317 | CFAP410 | c.329C>A (p.Thr110Asn) n.2500C>A n.388C>A n.445C>A c.206C>A (p.Thr69Asn) c.404C>A (p.Thr135Asn) c.5C>A (p.Thr2Asn) n.532C>A c.533C>A (p.Thr178Asn) c.278C>A (p.Thr93Asn) n.539C>A | |
21 | g.44333078T>A | CA410456321 | CFAP410 | c.328A>T (p.Thr110Ser) n.2499A>T n.387A>T n.444A>T c.205A>T (p.Thr69Ser) c.403A>T (p.Thr135Ser) c.4A>T (p.Thr2Ser) n.531A>T c.532A>T (p.Thr178Ser) c.277A>T (p.Thr93Ser) n.538A>T | |
21 | g.44333078T>C | CA410456324 | CFAP410 | c.328A>G (p.Thr110Ala) n.2499A>G n.387A>G n.444A>G c.205A>G (p.Thr69Ala) c.403A>G (p.Thr135Ala) c.4A>G (p.Thr2Ala) n.531A>G c.532A>G (p.Thr178Ala) c.277A>G (p.Thr93Ala) n.538A>G | |
21 | g.44333078T>G | CA410456323 | CFAP410 | c.328A>C (p.Thr110Pro) n.2499A>C n.387A>C n.444A>C c.205A>C (p.Thr69Pro) c.403A>C (p.Thr135Pro) c.4A>C (p.Thr2Pro) n.531A>C c.532A>C (p.Thr178Pro) c.277A>C (p.Thr93Pro) n.538A>C | |
21 | g.44333079C>A | CA410456326 | CFAP410 | c.327G>T (p.Met109Ile) n.2498G>T n.386G>T n.443G>T c.204G>T (p.Met68Ile) c.402G>T (p.Met134Ile) c.3G>T (p.Met1Ile) n.530G>T c.531G>T (p.Met177Ile) c.276G>T (p.Met92Ile) n.537G>T | |
21 | g.44333079C>G | CA410456327 | CFAP410 | c.327G>C (p.Met109Ile) n.2498G>C n.386G>C n.443G>C c.204G>C (p.Met68Ile) c.402G>C (p.Met134Ile) c.3G>C (p.Met1Ile) n.530G>C c.531G>C (p.Met177Ile) c.276G>C (p.Met92Ile) n.537G>C | |
21 | g.44333079C>T | CA410456331 | CFAP410 | c.327G>A (p.Met109Ile) n.2498G>A n.386G>A n.443G>A c.204G>A (p.Met68Ile) c.402G>A (p.Met134Ile) c.3G>A (p.Met1Ile) n.530G>A c.531G>A (p.Met177Ile) c.276G>A (p.Met92Ile) n.537G>A | |
21 | g.44333080A>C | CA410456333 | CFAP410 | c.326T>G (p.Met109Arg) n.2497T>G n.385T>G n.442T>G c.203T>G (p.Met68Arg) c.401T>G (p.Met134Arg) c.2T>G (p.Met1Arg) n.529T>G c.530T>G (p.Met177Arg) c.275T>G (p.Met92Arg) n.536T>G | |
21 | g.44333080A>G | CA410456334 | CFAP410 | c.326T>C (p.Met109Thr) n.2497T>C n.385T>C n.442T>C c.203T>C (p.Met68Thr) c.401T>C (p.Met134Thr) c.2T>C (p.Met1Thr) n.529T>C c.530T>C (p.Met177Thr) c.275T>C (p.Met92Thr) n.536T>C | |
21 | g.44333080A>T | CA410456335 | CFAP410 | c.326T>A (p.Met109Lys) n.2497T>A n.385T>A n.442T>A c.203T>A (p.Met68Lys) c.401T>A (p.Met134Lys) c.2T>A (p.Met1Lys) n.529T>A c.530T>A (p.Met177Lys) c.275T>A (p.Met92Lys) n.536T>A | |
21 | g.44333081T>A | CA410456336 | CFAP410 | c.325A>T (p.Met109Leu) n.2496A>T n.384A>T n.441A>T c.202A>T (p.Met68Leu) c.400A>T (p.Met134Leu) c.1A>T (p.Met1Leu) n.528A>T c.529A>T (p.Met177Leu) c.274A>T (p.Met92Leu) n.535A>T | |
21 | g.44333081T>C | CA410456338 | CFAP410 | c.325A>G (p.Met109Val) n.2496A>G n.384A>G n.441A>G c.202A>G (p.Met68Val) c.400A>G (p.Met134Val) c.1A>G (p.Met1Val) n.528A>G c.529A>G (p.Met177Val) c.274A>G (p.Met92Val) n.535A>G | |
21 | g.44333081T>G | CA410456339 | CFAP410 | c.325A>C (p.Met109Leu) n.2496A>C n.384A>C n.441A>C c.202A>C (p.Met68Leu) c.400A>C (p.Met134Leu) c.1A>C (p.Met1Leu) n.528A>C c.529A>C (p.Met177Leu) c.274A>C (p.Met92Leu) n.535A>C | |
21 | g.44333082G>A | CA512670856 | CFAP410 | c.324C>T (p.Arg108=) n.2495C>T n.383C>T n.440C>T c.201C>T (p.Arg67=) c.399C>T (p.Arg133=) c.-1C>T (n.-1C>T) n.527C>T c.528C>T (p.Arg176=) c.273C>T (p.Arg91=) n.534C>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333082G>C | CA512670857 | CFAP410 | c.324C>G (p.Arg108=) n.2495C>G n.383C>G n.440C>G c.201C>G (p.Arg67=) c.399C>G (p.Arg133=) c.-1C>G (n.-1C>G) n.527C>G c.528C>G (p.Arg176=) c.273C>G (p.Arg91=) n.534C>G | |
21 | g.44333082G= | CA2391590933 | CFAP410 | c.324C= (p.Arg108=) n.2495C= n.383C= n.440C= c.201C= (p.Arg67=) c.399C= (p.Arg133=) c.-1C= (n.-1C=) n.527C= c.528C= (p.Arg176=) c.273C= (p.Arg91=) n.534C= | |
21 | g.44333082G>T | CA512670859 | CFAP410 | c.324C>A (p.Arg108=) n.2495C>A n.383C>A n.440C>A c.201C>A (p.Arg67=) c.399C>A (p.Arg133=) c.-1C>A (n.-1C>A) n.527C>A c.528C>A (p.Arg176=) c.273C>A (p.Arg91=) n.534C>A | |
21 | g.44333083C>A | CA410456341 | CFAP410 | c.323G>T (p.Arg108Leu) n.2494G>T n.382G>T n.439G>T c.200G>T (p.Arg67Leu) c.398G>T (p.Arg133Leu) c.-2G>T (n.-2G>T) n.526G>T c.527G>T (p.Arg176Leu) c.272G>T (p.Arg91Leu) n.533G>T | |
21 | g.44333083C= | CA2391590934 | CFAP410 | c.323G= (p.Arg108=) n.2494G= n.382G= n.439G= c.200G= (p.Arg67=) c.398G= (p.Arg133=) c.-2G= (n.-2G=) n.526G= c.527G= (p.Arg176=) c.272G= (p.Arg91=) n.533G= | |
21 | g.44333083C>G | CA410456344 | CFAP410 | c.323G>C (p.Arg108Pro) n.2494G>C n.382G>C n.439G>C c.200G>C (p.Arg67Pro) c.398G>C (p.Arg133Pro) c.-2G>C (n.-2G>C) n.526G>C c.527G>C (p.Arg176Pro) c.272G>C (p.Arg91Pro) n.533G>C | |
21 | g.44333083C>T | CA10053726 | CFAP410 | c.323G>A (p.Arg108His) n.2494G>A n.382G>A n.439G>A c.200G>A (p.Arg67His) c.398G>A (p.Arg133His) c.-2G>A (n.-2G>A) n.526G>A c.527G>A (p.Arg176His) c.272G>A (p.Arg91His) n.533G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333084G>A | CA10053727 | CFAP410 | c.322C>T (p.Arg108Cys) n.2493C>T n.381C>T n.438C>T c.199C>T (p.Arg67Cys) c.397C>T (p.Arg133Cys) c.-3C>T (n.-3C>T) n.525C>T c.526C>T (p.Arg176Cys) c.271C>T (p.Arg91Cys) n.532C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333084G>C | CA410456355 | CFAP410 | c.322C>G (p.Arg108Gly) n.2493C>G n.381C>G n.438C>G c.199C>G (p.Arg67Gly) c.397C>G (p.Arg133Gly) c.-3C>G (n.-3C>G) n.525C>G c.526C>G (p.Arg176Gly) c.271C>G (p.Arg91Gly) n.532C>G | |
21 | g.44333084G= | CA2391590935 | CFAP410 | c.322C= (p.Arg108=) n.2493C= n.381C= n.438C= c.199C= (p.Arg67=) c.397C= (p.Arg133=) c.-3C= (n.-3C=) n.525C= c.526C= (p.Arg176=) c.271C= (p.Arg91=) n.532C= | |
21 | g.44333084G>T | CA410456354 | CFAP410 | c.322C>A (p.Arg108Ser) n.2493C>A n.381C>A n.438C>A c.199C>A (p.Arg67Ser) c.397C>A (p.Arg133Ser) c.-3C>A (n.-3C>A) n.525C>A c.526C>A (p.Arg176Ser) c.271C>A (p.Arg91Ser) n.532C>A | gnomAD v4 |
21 | g.44333085G>A | CA512670864 | CFAP410 | c.321C>T (p.Tyr107=) n.2492C>T n.380C>T n.437C>T c.198C>T (p.Tyr66=) c.396C>T (p.Tyr132=) c.-4C>T (n.-4C>T) n.524C>T c.525C>T (p.Tyr175=) c.270C>T (p.Tyr90=) n.531C>T | gnomAD v4 |
21 | g.44333085G>C | CA410456358 | CFAP410 | c.321C>G (p.Tyr107Ter) n.2492C>G n.380C>G n.437C>G c.198C>G (p.Tyr66Ter) c.396C>G (p.Tyr132Ter) c.-4C>G (n.-4C>G) n.524C>G c.525C>G (p.Tyr175Ter) c.270C>G (p.Tyr90Ter) n.531C>G | |
21 | g.44333085G>T | CA410456361 | CFAP410 | c.321C>A (p.Tyr107Ter) n.2492C>A n.380C>A n.437C>A c.198C>A (p.Tyr66Ter) c.396C>A (p.Tyr132Ter) c.-4C>A (n.-4C>A) n.524C>A c.525C>A (p.Tyr175Ter) c.270C>A (p.Tyr90Ter) n.531C>A | gnomAD v4 |
21 | g.44333086T>A | CA410456364 | CFAP410 | c.320A>T (p.Tyr107Phe) n.2491A>T n.379A>T n.436A>T c.197A>T (p.Tyr66Phe) c.395A>T (p.Tyr132Phe) c.-5A>T (n.-5A>T) n.523A>T c.524A>T (p.Tyr175Phe) c.269A>T (p.Tyr90Phe) n.530A>T | |
21 | g.44333086T>C | CA410456369 | CFAP410 | c.320A>G (p.Tyr107Cys) n.2491A>G n.379A>G n.436A>G c.197A>G (p.Tyr66Cys) c.395A>G (p.Tyr132Cys) c.-5A>G (n.-5A>G) n.523A>G c.524A>G (p.Tyr175Cys) c.269A>G (p.Tyr90Cys) n.530A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333086T>G | CA410456370 | CFAP410 | c.320A>C (p.Tyr107Ser) n.2491A>C n.379A>C n.436A>C c.197A>C (p.Tyr66Ser) c.395A>C (p.Tyr132Ser) c.-5A>C (n.-5A>C) n.523A>C c.524A>C (p.Tyr175Ser) c.269A>C (p.Tyr90Ser) n.530A>C | |
21 | g.44333086T= | CA2391590936 | CFAP410 | c.320A= (p.Tyr107=) n.2491A= n.379A= n.436A= c.197A= (p.Tyr66=) c.395A= (p.Tyr132=) c.-5A= (n.-5A=) n.523A= c.524A= (p.Tyr175=) c.269A= (p.Tyr90=) n.530A= | |
21 | g.44333086dup | CA2654807926 | CFAP410 | c.320dup (p.Tyr107Ter) n.2491dup n.379dup n.436dup c.197dup (p.Tyr66Ter) c.395dup (p.Tyr132Ter) c.-5dup (n.-5dup) n.523dup c.524dup (p.Tyr175Ter) c.269dup (p.Tyr90Ter) n.530dup | gnomAD v4 |
21 | g.44333087A= | CA2391590937 | CFAP410 | c.319T= (p.Tyr107=) n.2490T= n.378T= n.435T= c.196T= (p.Tyr66=) c.394T= (p.Tyr132=) c.-6T= (n.-6T=) n.522T= c.523T= (p.Tyr175=) c.268T= (p.Tyr90=) n.529T= | |
21 | g.44333087A>C | CA410456372 | CFAP410 | c.319T>G (p.Tyr107Asp) n.2490T>G n.378T>G n.435T>G c.196T>G (p.Tyr66Asp) c.394T>G (p.Tyr132Asp) c.-6T>G (n.-6T>G) n.522T>G c.523T>G (p.Tyr175Asp) c.268T>G (p.Tyr90Asp) n.529T>G | |
21 | g.44333087A>G | CA10053728 | CFAP410 | c.319T>C (p.Tyr107His) n.2490T>C n.378T>C n.435T>C c.196T>C (p.Tyr66His) c.394T>C (p.Tyr132His) c.-6T>C (n.-6T>C) n.522T>C c.523T>C (p.Tyr175His) c.268T>C (p.Tyr90His) n.529T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333087A>T | CA410456374 | CFAP410 | c.319T>A (p.Tyr107Asn) n.2490T>A n.378T>A n.435T>A c.196T>A (p.Tyr66Asn) c.394T>A (p.Tyr132Asn) c.-6T>A (n.-6T>A) n.522T>A c.523T>A (p.Tyr175Asn) c.268T>A (p.Tyr90Asn) n.529T>A | |
21 | g.44333088G>A | CA512670868 | CFAP410 | c.318C>T (p.Arg106=) n.2489C>T n.377C>T n.434C>T c.195C>T (p.Arg65=) c.393C>T (p.Arg131=) c.-7C>T (n.-7C>T) n.521C>T c.522C>T (p.Arg174=) c.267C>T (p.Arg89=) n.528C>T | gnomAD v4 |
21 | g.44333088G>C | CA512670869 | CFAP410 | c.318C>G (p.Arg106=) n.2489C>G n.377C>G n.434C>G c.195C>G (p.Arg65=) c.393C>G (p.Arg131=) c.-7C>G (n.-7C>G) n.521C>G c.522C>G (p.Arg174=) c.267C>G (p.Arg89=) n.528C>G | |
21 | g.44333088G>T | CA512670871 | CFAP410 | c.318C>A (p.Arg106=) n.2489C>A n.377C>A n.434C>A c.195C>A (p.Arg65=) c.393C>A (p.Arg131=) c.-7C>A (n.-7C>A) n.521C>A c.522C>A (p.Arg174=) c.267C>A (p.Arg89=) n.528C>A | |
21 | g.44333089C>A | CA410456376 | CFAP410 | c.317G>T (p.Arg106Leu) n.2488G>T n.376G>T n.433G>T c.194G>T (p.Arg65Leu) c.392G>T (p.Arg131Leu) c.-8G>T (n.-8G>T) n.520G>T c.521G>T (p.Arg174Leu) c.266G>T (p.Arg89Leu) n.527G>T | |
21 | g.44333089C= | CA2391590938 | CFAP410 | c.317G= (p.Arg106=) n.2488G= n.376G= n.433G= c.194G= (p.Arg65=) c.392G= (p.Arg131=) c.-8G= (n.-8G=) n.520G= c.521G= (p.Arg174=) c.266G= (p.Arg89=) n.527G= | |
21 | g.44333089C>G | CA410456378 | CFAP410 | c.317G>C (p.Arg106Pro) n.2488G>C n.376G>C n.433G>C c.194G>C (p.Arg65Pro) c.392G>C (p.Arg131Pro) c.-8G>C (n.-8G>C) n.520G>C c.521G>C (p.Arg174Pro) c.266G>C (p.Arg89Pro) n.527G>C | |
21 | g.44333089C>T | CA10053729 | CFAP410 | c.317G>A (p.Arg106His) n.2488G>A n.376G>A n.433G>A c.194G>A (p.Arg65His) c.392G>A (p.Arg131His) c.-8G>A (n.-8G>A) n.520G>A c.521G>A (p.Arg174His) c.266G>A (p.Arg89His) n.527G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333090G>A | CA10053730 | CFAP410 | c.316C>T (p.Arg106Cys) n.2487C>T n.375C>T n.432C>T c.193C>T (p.Arg65Cys) c.391C>T (p.Arg131Cys) c.-9C>T (n.-9C>T) n.519C>T c.520C>T (p.Arg174Cys) c.265C>T (p.Arg89Cys) n.526C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333090G>C | CA410456381 | CFAP410 | c.316C>G (p.Arg106Gly) n.2487C>G n.375C>G n.432C>G c.193C>G (p.Arg65Gly) c.391C>G (p.Arg131Gly) c.-9C>G (n.-9C>G) n.519C>G c.520C>G (p.Arg174Gly) c.265C>G (p.Arg89Gly) n.526C>G | |
21 | g.44333090G= | CA2391590939 | CFAP410 | c.316C= (p.Arg106=) n.2487C= n.375C= n.432C= c.193C= (p.Arg65=) c.391C= (p.Arg131=) c.-9C= (n.-9C=) n.519C= c.520C= (p.Arg174=) c.265C= (p.Arg89=) n.526C= | |
21 | g.44333090G>T | CA410456389 | CFAP410 | c.316C>A (p.Arg106Ser) n.2487C>A n.375C>A n.432C>A c.193C>A (p.Arg65Ser) c.391C>A (p.Arg131Ser) c.-9C>A (n.-9C>A) n.519C>A c.520C>A (p.Arg174Ser) c.265C>A (p.Arg89Ser) n.526C>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333091G>A | CA512670876 | CFAP410 | c.315C>T (p.His105=) n.2486C>T n.374C>T n.431C>T c.192C>T (p.His64=) c.390C>T (p.His130=) c.-10C>T (n.-10C>T) n.518C>T c.519C>T (p.His173=) c.264C>T (p.His88=) n.525C>T | |
21 | g.44333091G>C | CA410456390 | CFAP410 | c.315C>G (p.His105Gln) n.2486C>G n.374C>G n.431C>G c.192C>G (p.His64Gln) c.390C>G (p.His130Gln) c.-10C>G (n.-10C>G) n.518C>G c.519C>G (p.His173Gln) c.264C>G (p.His88Gln) n.525C>G | |
21 | g.44333091G>T | CA410456391 | CFAP410 | c.315C>A (p.His105Gln) n.2486C>A n.374C>A n.431C>A c.192C>A (p.His64Gln) c.390C>A (p.His130Gln) c.-10C>A (n.-10C>A) n.518C>A c.519C>A (p.His173Gln) c.264C>A (p.His88Gln) n.525C>A | |
21 | g.44333092T>A | CA410456394 | CFAP410 | c.314A>T (p.His105Leu) n.2485A>T n.373A>T n.430A>T c.191A>T (p.His64Leu) c.389A>T (p.His130Leu) c.-11A>T (n.-11A>T) n.517A>T c.518A>T (p.His173Leu) c.263A>T (p.His88Leu) n.524A>T | |
21 | g.44333092T>C | CA410456396 | CFAP410 | c.314A>G (p.His105Arg) n.2485A>G n.373A>G n.430A>G c.191A>G (p.His64Arg) c.389A>G (p.His130Arg) c.-11A>G (n.-11A>G) n.517A>G c.518A>G (p.His173Arg) c.263A>G (p.His88Arg) n.524A>G | gnomAD v4 |
21 | g.44333092T>G | CA410456397 | CFAP410 | c.314A>C (p.His105Pro) n.2485A>C n.373A>C n.430A>C c.191A>C (p.His64Pro) c.389A>C (p.His130Pro) c.-11A>C (n.-11A>C) n.517A>C c.518A>C (p.His173Pro) c.263A>C (p.His88Pro) n.524A>C | |
21 | g.44333093G>A | CA410456398 | CFAP410 | c.313C>T (p.His105Tyr) n.2484C>T n.372C>T n.429C>T c.190C>T (p.His64Tyr) c.388C>T (p.His130Tyr) c.-12C>T (n.-12C>T) n.516C>T c.517C>T (p.His173Tyr) c.262C>T (p.His88Tyr) n.523C>T | |
21 | g.44333093G>C | CA321784812 | CFAP410 | c.313C>G (p.His105Asp) n.2484C>G n.372C>G n.429C>G c.190C>G (p.His64Asp) c.388C>G (p.His130Asp) c.-12C>G (n.-12C>G) n.516C>G c.517C>G (p.His173Asp) c.262C>G (p.His88Asp) n.523C>G | dbSNP gnomAD v4 |
21 | g.44333093G= | CA2391590940 | CFAP410 | c.313C= (p.His105=) n.2484C= n.372C= n.429C= c.190C= (p.His64=) c.388C= (p.His130=) c.-12C= (n.-12C=) n.516C= c.517C= (p.His173=) c.262C= (p.His88=) n.523C= | |
21 | g.44333093G>T | CA410456401 | CFAP410 | c.313C>A (p.His105Asn) n.2484C>A n.372C>A n.429C>A c.190C>A (p.His64Asn) c.388C>A (p.His130Asn) c.-12C>A (n.-12C>A) n.516C>A c.517C>A (p.His173Asn) c.262C>A (p.His88Asn) n.523C>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333094G>A | CA512670878 | CFAP410 | c.312C>T (p.Pro104=) n.2483C>T n.371C>T n.428C>T c.189C>T (p.Pro63=) c.387C>T (p.Pro129=) c.-13C>T (n.-13C>T) n.515C>T c.516C>T (p.Pro172=) c.261C>T (p.Pro87=) n.522C>T | |
21 | g.44333094G>C | CA512670879 | CFAP410 | c.312C>G (p.Pro104=) n.2483C>G n.371C>G n.428C>G c.189C>G (p.Pro63=) c.387C>G (p.Pro129=) c.-13C>G (n.-13C>G) n.515C>G c.516C>G (p.Pro172=) c.261C>G (p.Pro87=) n.522C>G | |
21 | g.44333094G>T | CA512670880 | CFAP410 | c.312C>A (p.Pro104=) n.2483C>A n.371C>A n.428C>A c.189C>A (p.Pro63=) c.387C>A (p.Pro129=) c.-13C>A (n.-13C>A) n.515C>A c.516C>A (p.Pro172=) c.261C>A (p.Pro87=) n.522C>A | gnomAD v4 |
21 | g.44333095G>A | CA321784814 | CFAP410 | c.311C>T (p.Pro104Leu) n.2482C>T n.370C>T n.427C>T c.188C>T (p.Pro63Leu) c.386C>T (p.Pro129Leu) c.-14C>T (n.-14C>T) n.514C>T c.515C>T (p.Pro172Leu) c.260C>T (p.Pro87Leu) n.521C>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333095G>C | CA410456406 | CFAP410 | c.311C>G (p.Pro104Arg) n.2482C>G n.370C>G n.427C>G c.188C>G (p.Pro63Arg) c.386C>G (p.Pro129Arg) c.-14C>G (n.-14C>G) n.514C>G c.515C>G (p.Pro172Arg) c.260C>G (p.Pro87Arg) n.521C>G | |
21 | g.44333095G= | CA2391590941 | CFAP410 | c.311C= (p.Pro104=) n.2482C= n.370C= n.427C= c.188C= (p.Pro63=) c.386C= (p.Pro129=) c.-14C= (n.-14C=) n.514C= c.515C= (p.Pro172=) c.260C= (p.Pro87=) n.521C= | |
21 | g.44333095G>T | CA410456410 | CFAP410 | c.311C>A (p.Pro104His) n.2482C>A n.370C>A n.427C>A c.188C>A (p.Pro63His) c.386C>A (p.Pro129His) c.-14C>A (n.-14C>A) n.514C>A c.515C>A (p.Pro172His) c.260C>A (p.Pro87His) n.521C>A | |
21 | g.44333096G>A | CA410456417 | CFAP410 | c.310C>T (p.Pro104Ser) n.2481C>T n.369C>T n.426C>T c.187C>T (p.Pro63Ser) c.385C>T (p.Pro129Ser) c.-15C>T (n.-15C>T) n.513C>T c.514C>T (p.Pro172Ser) c.259C>T (p.Pro87Ser) n.520C>T | gnomAD v4 |
21 | g.44333096G>C | CA410456419 | CFAP410 | c.310C>G (p.Pro104Ala) n.2481C>G n.369C>G n.426C>G c.187C>G (p.Pro63Ala) c.385C>G (p.Pro129Ala) c.-15C>G (n.-15C>G) n.513C>G c.514C>G (p.Pro172Ala) c.259C>G (p.Pro87Ala) n.520C>G | |
21 | g.44333096G>T | CA410456421 | CFAP410 | c.310C>A (p.Pro104Thr) n.2481C>A n.369C>A n.426C>A c.187C>A (p.Pro63Thr) c.385C>A (p.Pro129Thr) c.-15C>A (n.-15C>A) n.513C>A c.514C>A (p.Pro172Thr) c.259C>A (p.Pro87Thr) n.520C>A | |
21 | g.44333097G>A | CA512670883 | CFAP410 | c.309C>T (p.Ser103=) n.2480C>T n.368C>T n.425C>T c.186C>T (p.Ser62=) c.384C>T (p.Ser128=) c.-16C>T (n.-16C>T) n.512C>T c.513C>T (p.Ser171=) c.258C>T (p.Ser86=) n.519C>T | |
21 | g.44333097G>C | CA410456422 | CFAP410 | c.309C>G (p.Ser103Arg) n.2480C>G n.368C>G n.425C>G c.186C>G (p.Ser62Arg) c.384C>G (p.Ser128Arg) c.-16C>G (n.-16C>G) n.512C>G c.513C>G (p.Ser171Arg) c.258C>G (p.Ser86Arg) n.519C>G | |
21 | g.44333097G>T | CA410456423 | CFAP410 | c.309C>A (p.Ser103Arg) n.2480C>A n.368C>A n.425C>A c.186C>A (p.Ser62Arg) c.384C>A (p.Ser128Arg) c.-16C>A (n.-16C>A) n.512C>A c.513C>A (p.Ser171Arg) c.258C>A (p.Ser86Arg) n.519C>A | |
21 | g.44333098C>A | CA410456426 | CFAP410 | c.308G>T (p.Ser103Ile) n.2479G>T n.367G>T n.424G>T c.185G>T (p.Ser62Ile) c.383G>T (p.Ser128Ile) c.-17G>T (n.-17G>T) n.511G>T c.512G>T (p.Ser171Ile) c.257G>T (p.Ser86Ile) n.518G>T | |
21 | g.44333098C>G | CA410456433 | CFAP410 | c.308G>C (p.Ser103Thr) n.2479G>C n.367G>C n.424G>C c.185G>C (p.Ser62Thr) c.383G>C (p.Ser128Thr) c.-17G>C (n.-17G>C) n.511G>C c.512G>C (p.Ser171Thr) c.257G>C (p.Ser86Thr) n.518G>C | |
21 | g.44333098C>T | CA410456443 | CFAP410 | c.308G>A (p.Ser103Asn) n.2479G>A n.367G>A n.424G>A c.185G>A (p.Ser62Asn) c.383G>A (p.Ser128Asn) c.-17G>A (n.-17G>A) n.511G>A c.512G>A (p.Ser171Asn) c.257G>A (p.Ser86Asn) n.518G>A | |
21 | g.44333099T>A | CA410456448 | CFAP410 | c.307A>T (p.Ser103Cys) n.2478A>T n.366A>T n.423A>T c.184A>T (p.Ser62Cys) c.382A>T (p.Ser128Cys) c.-18A>T (n.-18A>T) n.510A>T c.511A>T (p.Ser171Cys) c.256A>T (p.Ser86Cys) n.517A>T | |
21 | g.44333099T>C | CA321784817 | CFAP410 | c.307A>G (p.Ser103Gly) n.2478A>G n.366A>G n.423A>G c.184A>G (p.Ser62Gly) c.382A>G (p.Ser128Gly) c.-18A>G (n.-18A>G) n.510A>G c.511A>G (p.Ser171Gly) c.256A>G (p.Ser86Gly) n.517A>G | dbSNP gnomAD v3 gnomAD v4 |
21 | g.44333099T>G | CA410456449 | CFAP410 | c.307A>C (p.Ser103Arg) n.2478A>C n.366A>C n.423A>C c.184A>C (p.Ser62Arg) c.382A>C (p.Ser128Arg) c.-18A>C (n.-18A>C) n.510A>C c.511A>C (p.Ser171Arg) c.256A>C (p.Ser86Arg) n.517A>C | |
21 | g.44333099T= | CA2391590942 | CFAP410 | c.307A= (p.Ser103=) n.2478A= n.366A= n.423A= c.184A= (p.Ser62=) c.382A= (p.Ser128=) c.-18A= (n.-18A=) n.510A= c.511A= (p.Ser171=) c.256A= (p.Ser86=) n.517A= | |
21 | g.44333100G>A | CA512670887 | CFAP410 | c.306C>T (p.Thr102=) n.2477C>T n.365C>T n.422C>T c.183C>T (p.Thr61=) c.381C>T (p.Thr127=) c.-19C>T (n.-19C>T) n.509C>T c.510C>T (p.Thr170=) c.255C>T (p.Thr85=) n.516C>T | gnomAD v4 |
21 | g.44333100G>C | CA512670885 | CFAP410 | c.306C>G (p.Thr102=) n.2477C>G n.365C>G n.422C>G c.183C>G (p.Thr61=) c.381C>G (p.Thr127=) c.-19C>G (n.-19C>G) n.509C>G c.510C>G (p.Thr170=) c.255C>G (p.Thr85=) n.516C>G | dbSNP |
21 | g.44333100G= | CA2391590943 | CFAP410 | c.306C= (p.Thr102=) n.2477C= n.365C= n.422C= c.183C= (p.Thr61=) c.381C= (p.Thr127=) c.-19C= (n.-19C=) n.509C= c.510C= (p.Thr170=) c.255C= (p.Thr85=) n.516C= | |
21 | g.44333100G>T | CA512670884 | CFAP410 | c.306C>A (p.Thr102=) n.2477C>A n.365C>A n.422C>A c.183C>A (p.Thr61=) c.381C>A (p.Thr127=) c.-19C>A (n.-19C>A) n.509C>A c.510C>A (p.Thr170=) c.255C>A (p.Thr85=) n.516C>A | |
21 | g.44333101G>A | CA410456460 | CFAP410 | c.305C>T (p.Thr102Ile) n.2476C>T n.364C>T n.421C>T c.182C>T (p.Thr61Ile) c.380C>T (p.Thr127Ile) c.-20C>T (n.-20C>T) n.508C>T c.509C>T (p.Thr170Ile) c.254C>T (p.Thr85Ile) n.515C>T | |
21 | g.44333101G>C | CA410456456 | CFAP410 | c.305C>G (p.Thr102Ser) n.2476C>G n.364C>G n.421C>G c.182C>G (p.Thr61Ser) c.380C>G (p.Thr127Ser) c.-20C>G (n.-20C>G) n.508C>G c.509C>G (p.Thr170Ser) c.254C>G (p.Thr85Ser) n.515C>G | |
21 | g.44333101G>T | CA410456451 | CFAP410 | c.305C>A (p.Thr102Asn) n.2476C>A n.364C>A n.421C>A c.182C>A (p.Thr61Asn) c.380C>A (p.Thr127Asn) c.-20C>A (n.-20C>A) n.508C>A c.509C>A (p.Thr170Asn) c.254C>A (p.Thr85Asn) n.515C>A | |
21 | g.44333102T>A | CA410456461 | CFAP410 | c.304A>T (p.Thr102Ser) n.2475A>T n.363A>T n.420A>T c.181A>T (p.Thr61Ser) c.379A>T (p.Thr127Ser) c.-21A>T (n.-21A>T) n.507A>T c.508A>T (p.Thr170Ser) c.253A>T (p.Thr85Ser) n.514A>T | |
21 | g.44333102T>C | CA410456462 | CFAP410 | c.304A>G (p.Thr102Ala) n.2475A>G n.363A>G n.420A>G c.181A>G (p.Thr61Ala) c.379A>G (p.Thr127Ala) c.-21A>G (n.-21A>G) n.507A>G c.508A>G (p.Thr170Ala) c.253A>G (p.Thr85Ala) n.514A>G | |
21 | g.44333102T>G | CA410456467 | CFAP410 | c.304A>C (p.Thr102Pro) n.2475A>C n.363A>C n.420A>C c.181A>C (p.Thr61Pro) c.379A>C (p.Thr127Pro) c.-21A>C (n.-21A>C) n.507A>C c.508A>C (p.Thr170Pro) c.253A>C (p.Thr85Pro) n.514A>C | gnomAD v4 |
21 | g.44333103G>A | CA512670890 | CFAP410 | c.303C>T (p.Gly101=) n.2474C>T n.362C>T n.419C>T c.180C>T (p.Gly60=) c.378C>T (p.Gly126=) c.-22C>T (n.-22C>T) n.506C>T c.507C>T (p.Gly169=) c.252C>T (p.Gly84=) n.513C>T | |
21 | g.44333103G>C | CA512670891 | CFAP410 | c.303C>G (p.Gly101=) n.2474C>G n.362C>G n.419C>G c.180C>G (p.Gly60=) c.378C>G (p.Gly126=) c.-22C>G (n.-22C>G) n.506C>G c.507C>G (p.Gly169=) c.252C>G (p.Gly84=) n.513C>G | |
21 | g.44333103G>T | CA512670892 | CFAP410 | c.303C>A (p.Gly101=) n.2474C>A n.362C>A n.419C>A c.180C>A (p.Gly60=) c.378C>A (p.Gly126=) c.-22C>A (n.-22C>A) n.506C>A c.507C>A (p.Gly169=) c.252C>A (p.Gly84=) n.513C>A | gnomAD v4 |
21 | g.44333105_44333110del | CA2577621294 | CFAP410 | c.298_303del (p.Cys100_Gly101del) n.2469_2474del n.357_362del n.414_419del c.175_180del (p.Cys59_Gly60del) c.373_378del (p.Cys125_Gly126del) c.-27_-22del (n.-27_-22del) n.501_506del c.502_507del (p.Cys168_Gly169del) c.247_252del (p.Cys83_Gly84del) n.508_513del | |
21 | g.44333104C>A | CA410456468 | CFAP410 | c.302G>T (p.Gly101Val) n.2473G>T n.361G>T n.418G>T c.179G>T (p.Gly60Val) c.377G>T (p.Gly126Val) c.-23G>T (n.-23G>T) n.505G>T c.506G>T (p.Gly169Val) c.251G>T (p.Gly84Val) n.512G>T | |
21 | g.44333104C= | CA2391590944 | CFAP410 | c.302G= (p.Gly101=) n.2473G= n.361G= n.418G= c.179G= (p.Gly60=) c.377G= (p.Gly126=) c.-23G= (n.-23G=) n.505G= c.506G= (p.Gly169=) c.251G= (p.Gly84=) n.512G= | |
21 | g.44333104C>G | CA410456470 | CFAP410 | c.302G>C (p.Gly101Ala) n.2473G>C n.361G>C n.418G>C c.179G>C (p.Gly60Ala) c.377G>C (p.Gly126Ala) c.-23G>C (n.-23G>C) n.505G>C c.506G>C (p.Gly169Ala) c.251G>C (p.Gly84Ala) n.512G>C | |
21 | g.44333104C>T | CA410456474 | CFAP410 | c.302G>A (p.Gly101Asp) n.2473G>A n.361G>A n.418G>A c.179G>A (p.Gly60Asp) c.377G>A (p.Gly126Asp) c.-23G>A (n.-23G>A) n.505G>A c.506G>A (p.Gly169Asp) c.251G>A (p.Gly84Asp) n.512G>A | dbSNP gnomAD v4 |
21 | g.44333104_44333105insA | CA10053731 | CFAP410 | c.301_302insT (p.Gly101ValfsTer?) n.2472_2473insT n.360_361insT n.417_418insT c.178_179insT (p.Gly60ValfsTer?) c.376_377insT (p.Gly126ValfsTer?) c.-24_-23insT (n.-24_-23insT) n.504_505insT c.505_506insT (p.Gly169ValfsTer?) c.250_251insT (p.Gly84ValfsTer?) n.511_512insT | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333105C>A | CA410456478 | CFAP410 | c.301G>T (p.Gly101Cys) n.2472G>T n.360G>T n.417G>T c.178G>T (p.Gly60Cys) c.376G>T (p.Gly126Cys) c.-24G>T (n.-24G>T) n.504G>T c.505G>T (p.Gly169Cys) c.250G>T (p.Gly84Cys) n.511G>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333105C= | CA2391590945 | CFAP410 | c.301G= (p.Gly101=) n.2472G= n.360G= n.417G= c.178G= (p.Gly60=) c.376G= (p.Gly126=) c.-24G= (n.-24G=) n.504G= c.505G= (p.Gly169=) c.250G= (p.Gly84=) n.511G= | |
21 | g.44333105C>G | CA410456480 | CFAP410 | c.301G>C (p.Gly101Arg) n.2472G>C n.360G>C n.417G>C c.178G>C (p.Gly60Arg) c.376G>C (p.Gly126Arg) c.-24G>C (n.-24G>C) n.504G>C c.505G>C (p.Gly169Arg) c.250G>C (p.Gly84Arg) n.511G>C | |
21 | g.44333105C>T | CA10053732 | CFAP410 | c.301G>A (p.Gly101Ser) n.2472G>A n.360G>A n.417G>A c.178G>A (p.Gly60Ser) c.376G>A (p.Gly126Ser) c.-24G>A (n.-24G>A) n.504G>A c.505G>A (p.Gly169Ser) c.250G>A (p.Gly84Ser) n.511G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.44333105_44333121delinsACGGGTTCGTGCACGGGT | CA2580098823 | CFAP410 | c.285_301delinsACCCGTGCACGAACCCGT (p.Glu96ProfsTer?) n.2456_2472delinsACCCGTGCACGAACCCGT n.344_360delinsACCCGTGCACGAACCCGT n.401_417delinsACCCGTGCACGAACCCGT c.162_178delinsACCCGTGCACGAACCCGT (p.Glu55ProfsTer?) c.360_376delinsACCCGTGCACGAACCCGT (p.Glu121ProfsTer?) c.-40_-24delinsACCCGTGCACGAACCCGT (n.-40_-24delinsACCCGTGCACGAACCCGT) n.488_504delinsACCCGTGCACGAACCCGT c.489_505delinsACCCGTGCACGAACCCGT (p.Glu164ProfsTer?) c.234_250delinsACCCGTGCACGAACCCGT (p.Glu79ProfsTer?) n.495_511delinsACCCGTGCACGAACCCGT | ClinVar |
21 | g.44333106G>A | CA10053733 | CFAP410 | c.300C>T (p.Cys100=) n.2471C>T n.359C>T n.416C>T c.177C>T (p.Cys59=) c.375C>T (p.Cys125=) c.-25C>T (n.-25C>T) n.503C>T c.504C>T (p.Cys168=) c.249C>T (p.Cys83=) n.510C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333106G>C | CA410456488 | CFAP410 | c.300C>G (p.Cys100Trp) n.2471C>G n.359C>G n.416C>G c.177C>G (p.Cys59Trp) c.375C>G (p.Cys125Trp) c.-25C>G (n.-25C>G) n.503C>G c.504C>G (p.Cys168Trp) c.249C>G (p.Cys83Trp) n.510C>G | |
21 | g.44333106G= | CA2391590946 | CFAP410 | c.300C= (p.Cys100=) n.2471C= n.359C= n.416C= c.177C= (p.Cys59=) c.375C= (p.Cys125=) c.-25C= (n.-25C=) n.503C= c.504C= (p.Cys168=) c.249C= (p.Cys83=) n.510C= | |
21 | g.44333106G>T | CA410456496 | CFAP410 | c.300C>A (p.Cys100Ter) n.2471C>A n.359C>A n.416C>A c.177C>A (p.Cys59Ter) c.375C>A (p.Cys125Ter) c.-25C>A (n.-25C>A) n.503C>A c.504C>A (p.Cys168Ter) c.249C>A (p.Cys83Ter) n.510C>A | gnomAD v4 |
21 | g.44333106_44333107insGGTTC | CA10053734 | CFAP410 | c.299_300insGAACC (p.Cys100TrpfsTer12) n.2470_2471insGAACC n.358_359insGAACC n.415_416insGAACC c.176_177insGAACC (p.Cys59TrpfsTer12) c.374_375insGAACC (p.Cys125TrpfsTer12) c.-26_-25insGAACC (n.-26_-25insGAACC) n.502_503insGAACC c.503_504insGAACC (p.Cys168TrpfsTer12) c.248_249insGAACC (p.Cys83TrpfsTer12) n.509_510insGAACC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333107C>A | CA410456500 | CFAP410 | c.299G>T (p.Cys100Phe) n.2470G>T n.358G>T n.415G>T c.176G>T (p.Cys59Phe) c.374G>T (p.Cys125Phe) c.-26G>T (n.-26G>T) n.502G>T c.503G>T (p.Cys168Phe) c.248G>T (p.Cys83Phe) n.509G>T | |
21 | g.44333107C= | CA2391590947 | CFAP410 | c.299G= (p.Cys100=) n.2470G= n.358G= n.415G= c.176G= (p.Cys59=) c.374G= (p.Cys125=) c.-26G= (n.-26G=) n.502G= c.503G= (p.Cys168=) c.248G= (p.Cys83=) n.509G= | |
21 | g.44333107C>G | CA410456502 | CFAP410 | c.299G>C (p.Cys100Ser) n.2470G>C n.358G>C n.415G>C c.176G>C (p.Cys59Ser) c.374G>C (p.Cys125Ser) c.-26G>C (n.-26G>C) n.502G>C c.503G>C (p.Cys168Ser) c.248G>C (p.Cys83Ser) n.509G>C | |
21 | g.44333107C>T | CA410456504 | CFAP410 | c.299G>A (p.Cys100Tyr) n.2470G>A n.358G>A n.415G>A c.176G>A (p.Cys59Tyr) c.374G>A (p.Cys125Tyr) c.-26G>A (n.-26G>A) n.502G>A c.503G>A (p.Cys168Tyr) c.248G>A (p.Cys83Tyr) n.509G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333108A= | CA2391590948 | CFAP410 | c.298T= (p.Cys100=) n.2469T= n.357T= n.414T= c.175T= (p.Cys59=) c.373T= (p.Cys125=) c.-27T= (n.-27T=) n.501T= c.502T= (p.Cys168=) c.247T= (p.Cys83=) n.508T= | |
21 | g.44333108A>C | CA410456506 | CFAP410 | c.298T>G (p.Cys100Gly) n.2469T>G n.357T>G n.414T>G c.175T>G (p.Cys59Gly) c.373T>G (p.Cys125Gly) c.-27T>G (n.-27T>G) n.501T>G c.502T>G (p.Cys168Gly) c.247T>G (p.Cys83Gly) n.508T>G | COSMIC |
21 | g.44333108A>G | CA410456508 | CFAP410 | c.298T>C (p.Cys100Arg) n.2469T>C n.357T>C n.414T>C c.175T>C (p.Cys59Arg) c.373T>C (p.Cys125Arg) c.-27T>C (n.-27T>C) n.501T>C c.502T>C (p.Cys168Arg) c.247T>C (p.Cys83Arg) n.508T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333108A>T | CA410456510 | CFAP410 | c.298T>A (p.Cys100Ser) n.2469T>A n.357T>A n.414T>A c.175T>A (p.Cys59Ser) c.373T>A (p.Cys125Ser) c.-27T>A (n.-27T>A) n.501T>A c.502T>A (p.Cys168Ser) c.247T>A (p.Cys83Ser) n.508T>A | |
21 | g.44333109G>A | CA512670898 | CFAP410 | c.297C>T (p.Cys99=) n.2468C>T n.356C>T n.413C>T c.174C>T (p.Cys58=) c.372C>T (p.Cys124=) c.-28C>T (n.-28C>T) n.500C>T c.501C>T (p.Cys167=) c.246C>T (p.Cys82=) n.507C>T | |
21 | g.44333109G>C | CA410456511 | CFAP410 | c.297C>G (p.Cys99Trp) n.2468C>G n.356C>G n.413C>G c.174C>G (p.Cys58Trp) c.372C>G (p.Cys124Trp) c.-28C>G (n.-28C>G) n.500C>G c.501C>G (p.Cys167Trp) c.246C>G (p.Cys82Trp) n.507C>G | |
21 | g.44333109G>T | CA410456513 | CFAP410 | c.297C>A (p.Cys99Ter) n.2468C>A n.356C>A n.413C>A c.174C>A (p.Cys58Ter) c.372C>A (p.Cys124Ter) c.-28C>A (n.-28C>A) n.500C>A c.501C>A (p.Cys167Ter) c.246C>A (p.Cys82Ter) n.507C>A | |
21 | g.44333110C>A | CA410456554 | CFAP410 | c.296G>T (p.Cys99Phe) n.2467G>T n.355G>T n.412G>T c.173G>T (p.Cys58Phe) c.371G>T (p.Cys124Phe) c.-29G>T (n.-29G>T) n.499G>T c.500G>T (p.Cys167Phe) c.245G>T (p.Cys82Phe) n.506G>T | |
21 | g.44333110C>G | CA410456517 | CFAP410 | c.296G>C (p.Cys99Ser) n.2467G>C n.355G>C n.412G>C c.173G>C (p.Cys58Ser) c.371G>C (p.Cys124Ser) c.-29G>C (n.-29G>C) n.499G>C c.500G>C (p.Cys167Ser) c.245G>C (p.Cys82Ser) n.506G>C | |
21 | g.44333110C>T | CA410456527 | CFAP410 | c.296G>A (p.Cys99Tyr) n.2467G>A n.355G>A n.412G>A c.173G>A (p.Cys58Tyr) c.371G>A (p.Cys124Tyr) c.-29G>A (n.-29G>A) n.499G>A c.500G>A (p.Cys167Tyr) c.245G>A (p.Cys82Tyr) n.506G>A | |
21 | g.44333111A>C | CA410456572 | CFAP410 | c.295T>G (p.Cys99Gly) n.2466T>G n.354T>G n.411T>G c.172T>G (p.Cys58Gly) c.370T>G (p.Cys124Gly) c.-30T>G (n.-30T>G) n.498T>G c.499T>G (p.Cys167Gly) c.244T>G (p.Cys82Gly) n.505T>G | |
21 | g.44333111A>G | CA410456574 | CFAP410 | c.295T>C (p.Cys99Arg) n.2466T>C n.354T>C n.411T>C c.172T>C (p.Cys58Arg) c.370T>C (p.Cys124Arg) c.-30T>C (n.-30T>C) n.498T>C c.499T>C (p.Cys167Arg) c.244T>C (p.Cys82Arg) n.505T>C | |
21 | g.44333111A>T | CA410456576 | CFAP410 | c.295T>A (p.Cys99Ser) n.2466T>A n.354T>A n.411T>A c.172T>A (p.Cys58Ser) c.370T>A (p.Cys124Ser) c.-30T>A (n.-30T>A) n.498T>A c.499T>A (p.Cys167Ser) c.244T>A (p.Cys82Ser) n.505T>A | |
21 | g.44333112C>A | CA10053736 | CFAP410 | c.294G>T (p.Pro98=) n.2465G>T n.353G>T n.410G>T c.171G>T (p.Pro57=) c.369G>T (p.Pro123=) c.-31G>T (n.-31G>T) n.497G>T c.498G>T (p.Pro166=) c.243G>T (p.Pro81=) n.504G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333112C= | CA2391590949 | CFAP410 | c.294G= (p.Pro98=) n.2465G= n.353G= n.410G= c.171G= (p.Pro57=) c.369G= (p.Pro123=) c.-31G= (n.-31G=) n.497G= c.498G= (p.Pro166=) c.243G= (p.Pro81=) n.504G= | |
21 | g.44333112C>G | CA512670901 | CFAP410 | c.294G>C (p.Pro98=) n.2465G>C n.353G>C n.410G>C c.171G>C (p.Pro57=) c.369G>C (p.Pro123=) c.-31G>C (n.-31G>C) n.497G>C c.498G>C (p.Pro166=) c.243G>C (p.Pro81=) n.504G>C | |
21 | g.44333112C>T | CA10053735 | CFAP410 | c.294G>A (p.Pro98=) n.2465G>A n.353G>A n.410G>A c.171G>A (p.Pro57=) c.369G>A (p.Pro123=) c.-31G>A (n.-31G>A) n.497G>A c.498G>A (p.Pro166=) c.243G>A (p.Pro81=) n.504G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333113G>A | CA10053737 | CFAP410 | c.293C>T (p.Pro98Leu) n.2464C>T n.352C>T n.409C>T c.170C>T (p.Pro57Leu) c.368C>T (p.Pro123Leu) c.-32C>T (n.-32C>T) n.496C>T c.497C>T (p.Pro166Leu) c.242C>T (p.Pro81Leu) n.503C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333113G>C | CA410456599 | CFAP410 | c.293C>G (p.Pro98Arg) n.2464C>G n.352C>G n.409C>G c.170C>G (p.Pro57Arg) c.368C>G (p.Pro123Arg) c.-32C>G (n.-32C>G) n.496C>G c.497C>G (p.Pro166Arg) c.242C>G (p.Pro81Arg) n.503C>G | gnomAD v4 |
21 | g.44333113G= | CA2391590950 | CFAP410 | c.293C= (p.Pro98=) n.2464C= n.352C= n.409C= c.170C= (p.Pro57=) c.368C= (p.Pro123=) c.-32C= (n.-32C=) n.496C= c.497C= (p.Pro166=) c.242C= (p.Pro81=) n.503C= | |
21 | g.44333113G>T | CA410456601 | CFAP410 | c.293C>A (p.Pro98Gln) n.2464C>A n.352C>A n.409C>A c.170C>A (p.Pro57Gln) c.368C>A (p.Pro123Gln) c.-32C>A (n.-32C>A) n.496C>A c.497C>A (p.Pro166Gln) c.242C>A (p.Pro81Gln) n.503C>A | gnomAD v4 |
21 | g.44333114G>A | CA10053738 | CFAP410 | c.292C>T (p.Pro98Ser) n.2463C>T n.351C>T n.408C>T c.169C>T (p.Pro57Ser) c.367C>T (p.Pro123Ser) c.-33C>T (n.-33C>T) n.495C>T c.496C>T (p.Pro166Ser) c.241C>T (p.Pro81Ser) n.502C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333114G>C | CA410456607 | CFAP410 | c.292C>G (p.Pro98Ala) n.2463C>G n.351C>G n.408C>G c.169C>G (p.Pro57Ala) c.367C>G (p.Pro123Ala) c.-33C>G (n.-33C>G) n.495C>G c.496C>G (p.Pro166Ala) c.241C>G (p.Pro81Ala) n.502C>G | |
21 | g.44333114G= | CA2391590951 | CFAP410 | c.292C= (p.Pro98=) n.2463C= n.351C= n.408C= c.169C= (p.Pro57=) c.367C= (p.Pro123=) c.-33C= (n.-33C=) n.495C= c.496C= (p.Pro166=) c.241C= (p.Pro81=) n.502C= | |
21 | g.44333114G>T | CA410456612 | CFAP410 | c.292C>A (p.Pro98Thr) n.2463C>A n.351C>A n.408C>A c.169C>A (p.Pro57Thr) c.367C>A (p.Pro123Thr) c.-33C>A (n.-33C>A) n.495C>A c.496C>A (p.Pro166Thr) c.241C>A (p.Pro81Thr) n.502C>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333115G>A | CA512670903 | CFAP410 | c.291C>T (p.Asn97=) n.2462C>T n.350C>T n.407C>T c.168C>T (p.Asn56=) c.366C>T (p.Asn122=) c.-34C>T (n.-34C>T) n.494C>T c.495C>T (p.Asn165=) c.240C>T (p.Asn80=) n.501C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333115G>C | CA410456616 | CFAP410 | c.291C>G (p.Asn97Lys) n.2462C>G n.350C>G n.407C>G c.168C>G (p.Asn56Lys) c.366C>G (p.Asn122Lys) c.-34C>G (n.-34C>G) n.494C>G c.495C>G (p.Asn165Lys) c.240C>G (p.Asn80Lys) n.501C>G | ClinVar dbSNP gnomAD v4 |
21 | g.44333115G= | CA2391590952 | CFAP410 | c.291C= (p.Asn97=) n.2462C= n.350C= n.407C= c.168C= (p.Asn56=) c.366C= (p.Asn122=) c.-34C= (n.-34C=) n.494C= c.495C= (p.Asn165=) c.240C= (p.Asn80=) n.501C= | |
21 | g.44333115G>T | CA410456621 | CFAP410 | c.291C>A (p.Asn97Lys) n.2462C>A n.350C>A n.407C>A c.168C>A (p.Asn56Lys) c.366C>A (p.Asn122Lys) c.-34C>A (n.-34C>A) n.494C>A c.495C>A (p.Asn165Lys) c.240C>A (p.Asn80Lys) n.501C>A | |
21 | g.44333116T>A | CA410456634 | CFAP410 | c.290A>T (p.Asn97Ile) n.2461A>T n.349A>T n.406A>T c.167A>T (p.Asn56Ile) c.365A>T (p.Asn122Ile) c.-35A>T (n.-35A>T) n.493A>T c.494A>T (p.Asn165Ile) c.239A>T (p.Asn80Ile) n.500A>T | |
21 | g.44333116T>C | CA410456632 | CFAP410 | c.290A>G (p.Asn97Ser) n.2461A>G n.349A>G n.406A>G c.167A>G (p.Asn56Ser) c.365A>G (p.Asn122Ser) c.-35A>G (n.-35A>G) n.493A>G c.494A>G (p.Asn165Ser) c.239A>G (p.Asn80Ser) n.500A>G | |
21 | g.44333116T>G | CA321784839 | CFAP410 | c.290A>C (p.Asn97Thr) n.2461A>C n.349A>C n.406A>C c.167A>C (p.Asn56Thr) c.365A>C (p.Asn122Thr) c.-35A>C (n.-35A>C) n.493A>C c.494A>C (p.Asn165Thr) c.239A>C (p.Asn80Thr) n.500A>C | dbSNP |
21 | g.44333116T= | CA2391590953 | CFAP410 | c.290A= (p.Asn97=) n.2461A= n.349A= n.406A= c.167A= (p.Asn56=) c.365A= (p.Asn122=) c.-35A= (n.-35A=) n.493A= c.494A= (p.Asn165=) c.239A= (p.Asn80=) n.500A= | |
21 | g.44333116_44333121delinsTTCTCG | CA2391590954 | CFAP410 | c.285_290delinsCGAGAA (p.Ala95=) n.2456_2461delinsCGAGAA n.344_349delinsCGAGAA n.401_406delinsCGAGAA c.162_167delinsCGAGAA (p.Ala54=) c.360_365delinsCGAGAA (p.Ala120=) c.-40_-35delinsCGAGAA (n.-40_-35delinsCGAGAA) n.488_493delinsCGAGAA c.489_494delinsCGAGAA (p.Ala163=) c.234_239delinsCGAGAA (p.Ala78=) n.495_500delinsCGAGAA | |
21 | g.44333117T>A | CA410456636 | CFAP410 | c.289A>T (p.Asn97Tyr) n.2460A>T n.348A>T n.405A>T c.166A>T (p.Asn56Tyr) c.364A>T (p.Asn122Tyr) c.-36A>T (n.-36A>T) n.492A>T c.493A>T (p.Asn165Tyr) c.238A>T (p.Asn80Tyr) n.499A>T | |
21 | g.44333117T>C | CA410456637 | CFAP410 | c.289A>G (p.Asn97Asp) n.2460A>G n.348A>G n.405A>G c.166A>G (p.Asn56Asp) c.364A>G (p.Asn122Asp) c.-36A>G (n.-36A>G) n.492A>G c.493A>G (p.Asn165Asp) c.238A>G (p.Asn80Asp) n.499A>G | |
21 | g.44333117T>G | CA410456638 | CFAP410 | c.289A>C (p.Asn97His) n.2460A>C n.348A>C n.405A>C c.166A>C (p.Asn56His) c.364A>C (p.Asn122His) c.-36A>C (n.-36A>C) n.492A>C c.493A>C (p.Asn165His) c.238A>C (p.Asn80His) n.499A>C | |
21 | g.44333117_44333121del | CA10053739 | CFAP410 | c.285_289del (p.Glu96ProfsTer?) n.2456_2460del n.344_348del n.401_405del c.162_166del (p.Glu55ProfsTer?) c.360_364del (p.Glu121ProfsTer?) c.-40_-36del (n.-40_-36del) n.488_492del c.489_493del (p.Glu164ProfsTer?) c.234_238del (p.Glu79ProfsTer?) n.495_499del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333118C>A | CA410456645 | CFAP410 | c.288G>T (p.Glu96Asp) n.2459G>T n.347G>T n.404G>T c.165G>T (p.Glu55Asp) c.363G>T (p.Glu121Asp) c.-37G>T (n.-37G>T) n.491G>T c.492G>T (p.Glu164Asp) c.237G>T (p.Glu79Asp) n.498G>T | |
21 | g.44333118C>G | CA410456651 | CFAP410 | c.288G>C (p.Glu96Asp) n.2459G>C n.347G>C n.404G>C c.165G>C (p.Glu55Asp) c.363G>C (p.Glu121Asp) c.-37G>C (n.-37G>C) n.491G>C c.492G>C (p.Glu164Asp) c.237G>C (p.Glu79Asp) n.498G>C | |
21 | g.44333118C>T | CA512670905 | CFAP410 | c.288G>A (p.Glu96=) n.2459G>A n.347G>A n.404G>A c.165G>A (p.Glu55=) c.363G>A (p.Glu121=) c.-37G>A (n.-37G>A) n.491G>A c.492G>A (p.Glu164=) c.237G>A (p.Glu79=) n.498G>A | |
21 | g.44333119T>A | CA410456653 | CFAP410 | c.287A>T (p.Glu96Val) n.2458A>T n.346A>T n.403A>T c.164A>T (p.Glu55Val) c.362A>T (p.Glu121Val) c.-38A>T (n.-38A>T) n.490A>T c.491A>T (p.Glu164Val) c.236A>T (p.Glu79Val) n.497A>T | |
21 | g.44333119T>C | CA410456655 | CFAP410 | c.287A>G (p.Glu96Gly) n.2458A>G n.346A>G n.403A>G c.164A>G (p.Glu55Gly) c.362A>G (p.Glu121Gly) c.-38A>G (n.-38A>G) n.490A>G c.491A>G (p.Glu164Gly) c.236A>G (p.Glu79Gly) n.497A>G | |
21 | g.44333119T>G | CA410456657 | CFAP410 | c.287A>C (p.Glu96Ala) n.2458A>C n.346A>C n.403A>C c.164A>C (p.Glu55Ala) c.362A>C (p.Glu121Ala) c.-38A>C (n.-38A>C) n.490A>C c.491A>C (p.Glu164Ala) c.236A>C (p.Glu79Ala) n.497A>C | gnomAD v4 |
21 | g.44333120C>A | CA410456660 | CFAP410 | c.286G>T (p.Glu96Ter) n.2457G>T n.345G>T n.402G>T c.163G>T (p.Glu55Ter) c.361G>T (p.Glu121Ter) c.-39G>T (n.-39G>T) n.489G>T c.490G>T (p.Glu164Ter) c.235G>T (p.Glu79Ter) n.496G>T | |
21 | g.44333120C= | CA2391590955 | CFAP410 | c.286G= (p.Glu96=) n.2457G= n.345G= n.402G= c.163G= (p.Glu55=) c.361G= (p.Glu121=) c.-39G= (n.-39G=) n.489G= c.490G= (p.Glu164=) c.235G= (p.Glu79=) n.496G= | |
21 | g.44333120C>G | CA10053740 | CFAP410 | c.286G>C (p.Glu96Gln) n.2457G>C n.345G>C n.402G>C c.163G>C (p.Glu55Gln) c.361G>C (p.Glu121Gln) c.-39G>C (n.-39G>C) n.489G>C c.490G>C (p.Glu164Gln) c.235G>C (p.Glu79Gln) n.496G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333120C>T | CA410456670 | CFAP410 | c.286G>A (p.Glu96Lys) n.2457G>A n.345G>A n.402G>A c.163G>A (p.Glu55Lys) c.361G>A (p.Glu121Lys) c.-39G>A (n.-39G>A) n.489G>A c.490G>A (p.Glu164Lys) c.235G>A (p.Glu79Lys) n.496G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.44333121G>A | CA10053741 | CFAP410 | c.285C>T (p.Ala95=) n.2456C>T n.344C>T n.401C>T c.162C>T (p.Ala54=) c.360C>T (p.Ala120=) c.-40C>T (n.-40C>T) n.488C>T c.489C>T (p.Ala163=) c.234C>T (p.Ala78=) n.495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333121G>C | CA512670908 | CFAP410 | c.285C>G (p.Ala95=) n.2456C>G n.344C>G n.401C>G c.162C>G (p.Ala54=) c.360C>G (p.Ala120=) c.-40C>G (n.-40C>G) n.488C>G c.489C>G (p.Ala163=) c.234C>G (p.Ala78=) n.495C>G | gnomAD v4 |
21 | g.44333121G= | CA2391590956 | CFAP410 | c.285C= (p.Ala95=) n.2456C= n.344C= n.401C= c.162C= (p.Ala54=) c.360C= (p.Ala120=) c.-40C= (n.-40C=) n.488C= c.489C= (p.Ala163=) c.234C= (p.Ala78=) n.495C= | |
21 | g.44333121G>T | CA512670909 | CFAP410 | c.285C>A (p.Ala95=) n.2456C>A n.344C>A n.401C>A c.162C>A (p.Ala54=) c.360C>A (p.Ala120=) c.-40C>A (n.-40C>A) n.488C>A c.489C>A (p.Ala163=) c.234C>A (p.Ala78=) n.495C>A | |
21 | g.44333122G>A | CA410456681 | CFAP410 | c.284C>T (p.Ala95Val) n.2455C>T n.343C>T n.400C>T c.161C>T (p.Ala54Val) c.359C>T (p.Ala120Val) c.-41C>T (n.-41C>T) n.487C>T c.488C>T (p.Ala163Val) c.233C>T (p.Ala78Val) n.494C>T | |
21 | g.44333122G>C | CA410456689 | CFAP410 | c.284C>G (p.Ala95Gly) n.2455C>G n.343C>G n.400C>G c.161C>G (p.Ala54Gly) c.359C>G (p.Ala120Gly) c.-41C>G (n.-41C>G) n.487C>G c.488C>G (p.Ala163Gly) c.233C>G (p.Ala78Gly) n.494C>G | |
21 | g.44333122G>T | CA410456678 | CFAP410 | c.284C>A (p.Ala95Asp) n.2455C>A n.343C>A n.400C>A c.161C>A (p.Ala54Asp) c.359C>A (p.Ala120Asp) c.-41C>A (n.-41C>A) n.487C>A c.488C>A (p.Ala163Asp) c.233C>A (p.Ala78Asp) n.494C>A | |
21 | g.44333123C>A | CA410456703 | CFAP410 | c.283G>T (p.Ala95Ser) n.2454G>T n.342G>T n.399G>T c.160G>T (p.Ala54Ser) c.358G>T (p.Ala120Ser) c.-42G>T (n.-42G>T) n.486G>T c.487G>T (p.Ala163Ser) c.232G>T (p.Ala78Ser) n.493G>T | |
21 | g.44333123C= | CA2391590957 | CFAP410 | c.283G= (p.Ala95=) n.2454G= n.342G= n.399G= c.160G= (p.Ala54=) c.358G= (p.Ala120=) c.-42G= (n.-42G=) n.486G= c.487G= (p.Ala163=) c.232G= (p.Ala78=) n.493G= | |
21 | g.44333123C>G | CA410456706 | CFAP410 | c.283G>C (p.Ala95Pro) n.2454G>C n.342G>C n.399G>C c.160G>C (p.Ala54Pro) c.358G>C (p.Ala120Pro) c.-42G>C (n.-42G>C) n.486G>C c.487G>C (p.Ala163Pro) c.232G>C (p.Ala78Pro) n.493G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333123C>T | CA410456705 | CFAP410 | c.283G>A (p.Ala95Thr) n.2454G>A n.342G>A n.399G>A c.160G>A (p.Ala54Thr) c.358G>A (p.Ala120Thr) c.-42G>A (n.-42G>A) n.486G>A c.487G>A (p.Ala163Thr) c.232G>A (p.Ala78Thr) n.493G>A | dbSNP |
21 | g.44333124C>A | CA512670913 | CFAP410 | c.282G>T (p.Leu94=) n.2453G>T n.341G>T n.398G>T c.159G>T (p.Leu53=) c.357G>T (p.Leu119=) c.-43G>T (n.-43G>T) n.485G>T c.486G>T (p.Leu162=) c.231G>T (p.Leu77=) n.492G>T | |
21 | g.44333124C= | CA2391590958 | CFAP410 | c.282G= (p.Leu94=) n.2453G= n.341G= n.398G= c.159G= (p.Leu53=) c.357G= (p.Leu119=) c.-43G= (n.-43G=) n.485G= c.486G= (p.Leu162=) c.231G= (p.Leu77=) n.492G= | |
21 | g.44333124C>G | CA512670914 | CFAP410 | c.282G>C (p.Leu94=) n.2453G>C n.341G>C n.398G>C c.159G>C (p.Leu53=) c.357G>C (p.Leu119=) c.-43G>C (n.-43G>C) n.485G>C c.486G>C (p.Leu162=) c.231G>C (p.Leu77=) n.492G>C | |
21 | g.44333124C>T | CA10053742 | CFAP410 | c.282G>A (p.Leu94=) n.2453G>A n.341G>A n.398G>A c.159G>A (p.Leu53=) c.357G>A (p.Leu119=) c.-43G>A (n.-43G>A) n.485G>A c.486G>A (p.Leu162=) c.231G>A (p.Leu77=) n.492G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333125A= | CA2391590959 | CFAP410 | c.281T= (p.Leu94=) n.2452T= n.340T= n.397T= c.158T= (p.Leu53=) c.356T= (p.Leu119=) c.-44T= (n.-44T=) n.484T= c.485T= (p.Leu162=) c.230T= (p.Leu77=) n.491T= | |
21 | g.44333125A>C | CA410456710 | CFAP410 | c.281T>G (p.Leu94Arg) n.2452T>G n.340T>G n.397T>G c.158T>G (p.Leu53Arg) c.356T>G (p.Leu119Arg) c.-44T>G (n.-44T>G) n.484T>G c.485T>G (p.Leu162Arg) c.230T>G (p.Leu77Arg) n.491T>G | |
21 | g.44333125A>G | CA410456714 | CFAP410 | c.281T>C (p.Leu94Pro) n.2452T>C n.340T>C n.397T>C c.158T>C (p.Leu53Pro) c.356T>C (p.Leu119Pro) c.-44T>C (n.-44T>C) n.484T>C c.485T>C (p.Leu162Pro) c.230T>C (p.Leu77Pro) n.491T>C | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333125A>T | CA410456722 | CFAP410 | c.281T>A (p.Leu94Gln) n.2452T>A n.340T>A n.397T>A c.158T>A (p.Leu53Gln) c.356T>A (p.Leu119Gln) c.-44T>A (n.-44T>A) n.484T>A c.485T>A (p.Leu162Gln) c.230T>A (p.Leu77Gln) n.491T>A | |
21 | g.44333126G>A | CA512670915 | CFAP410 | c.280C>T (p.Leu94=) n.2451C>T n.339C>T n.396C>T c.157C>T (p.Leu53=) c.355C>T (p.Leu119=) c.-45C>T (n.-45C>T) n.483C>T c.484C>T (p.Leu162=) c.229C>T (p.Leu77=) n.490C>T | gnomAD v4 |
21 | g.44333126G>C | CA410456733 | CFAP410 | c.280C>G (p.Leu94Val) n.2451C>G n.339C>G n.396C>G c.157C>G (p.Leu53Val) c.355C>G (p.Leu119Val) c.-45C>G (n.-45C>G) n.483C>G c.484C>G (p.Leu162Val) c.229C>G (p.Leu77Val) n.490C>G | gnomAD v4 |
21 | g.44333126G= | CA2391590960 | CFAP410 | c.280C= (p.Leu94=) n.2451C= n.339C= n.396C= c.157C= (p.Leu53=) c.355C= (p.Leu119=) c.-45C= (n.-45C=) n.483C= c.484C= (p.Leu162=) c.229C= (p.Leu77=) n.490C= | |
21 | g.44333126G>T | CA321784847 | CFAP410 | c.280C>A (p.Leu94Met) n.2451C>A n.339C>A n.396C>A c.157C>A (p.Leu53Met) c.355C>A (p.Leu119Met) c.-45C>A (n.-45C>A) n.483C>A c.484C>A (p.Leu162Met) c.229C>A (p.Leu77Met) n.490C>A | dbSNP |
21 | g.44333126_44333127insA | CA2391590961 | CFAP410 | c.279_280insT (p.Leu94SerfsTer?) n.2450_2451insT n.338_339insT n.395_396insT c.156_157insT (p.Leu53SerfsTer?) c.354_355insT (p.Leu119SerfsTer?) c.-46_-45insT (n.-46_-45insT) n.482_483insT c.483_484insT (p.Leu162SerfsTer?) c.228_229insT (p.Leu77SerfsTer?) n.489_490insT | dbSNP |
21 | g.44333127C>A | CA410456739 | CFAP410 | c.279G>T (p.Trp93Cys) n.2450G>T n.338G>T n.395G>T c.156G>T (p.Trp52Cys) c.354G>T (p.Trp118Cys) c.-46G>T (n.-46G>T) n.482G>T c.483G>T (p.Trp161Cys) c.228G>T (p.Trp76Cys) n.489G>T | ClinVar dbSNP gnomAD v4 |
21 | g.44333127C= | CA2391590962 | CFAP410 | c.279G= (p.Trp93=) n.2450G= n.338G= n.395G= c.156G= (p.Trp52=) c.354G= (p.Trp118=) c.-46G= (n.-46G=) n.482G= c.483G= (p.Trp161=) c.228G= (p.Trp76=) n.489G= | |
21 | g.44333127C>G | CA410456744 | CFAP410 | c.279G>C (p.Trp93Cys) n.2450G>C n.338G>C n.395G>C c.156G>C (p.Trp52Cys) c.354G>C (p.Trp118Cys) c.-46G>C (n.-46G>C) n.482G>C c.483G>C (p.Trp161Cys) c.228G>C (p.Trp76Cys) n.489G>C | |
21 | g.44333127C>T | CA410456746 | CFAP410 | c.279G>A (p.Trp93Ter) n.2450G>A n.338G>A n.395G>A c.156G>A (p.Trp52Ter) c.354G>A (p.Trp118Ter) c.-46G>A (n.-46G>A) n.482G>A c.483G>A (p.Trp161Ter) c.228G>A (p.Trp76Ter) n.489G>A | |
21 | g.44333128C>A | CA410456750 | CFAP410 | c.278G>T (p.Trp93Leu) n.2449G>T n.337G>T n.394G>T c.155G>T (p.Trp52Leu) c.353G>T (p.Trp118Leu) c.-47G>T (n.-47G>T) n.481G>T c.482G>T (p.Trp161Leu) c.227G>T (p.Trp76Leu) n.488G>T | COSMIC |
21 | g.44333128C= | CA2391590963 | CFAP410 | c.278G= (p.Trp93=) n.2449G= n.337G= n.394G= c.155G= (p.Trp52=) c.353G= (p.Trp118=) c.-47G= (n.-47G=) n.481G= c.482G= (p.Trp161=) c.227G= (p.Trp76=) n.488G= | |
21 | g.44333128C>G | CA410456758 | CFAP410 | c.278G>C (p.Trp93Ser) n.2449G>C n.337G>C n.394G>C c.155G>C (p.Trp52Ser) c.353G>C (p.Trp118Ser) c.-47G>C (n.-47G>C) n.481G>C c.482G>C (p.Trp161Ser) c.227G>C (p.Trp76Ser) n.488G>C | |
21 | g.44333128C>T | CA410456760 | CFAP410 | c.278G>A (p.Trp93Ter) n.2449G>A n.337G>A n.394G>A c.155G>A (p.Trp52Ter) c.353G>A (p.Trp118Ter) c.-47G>A (n.-47G>A) n.481G>A c.482G>A (p.Trp161Ter) c.227G>A (p.Trp76Ter) n.488G>A | dbSNP gnomAD v3 gnomAD v4 |
21 | g.44333129A= | CA2391590964 | CFAP410 | c.277T= (p.Trp93=) n.2448T= n.336T= n.393T= c.154T= (p.Trp52=) c.352T= (p.Trp118=) c.-48T= (n.-48T=) n.480T= c.481T= (p.Trp161=) c.226T= (p.Trp76=) n.487T= | |
21 | g.44333129A>C | CA410456763 | CFAP410 | c.277T>G (p.Trp93Gly) n.2448T>G n.336T>G n.393T>G c.154T>G (p.Trp52Gly) c.352T>G (p.Trp118Gly) c.-48T>G (n.-48T>G) n.480T>G c.481T>G (p.Trp161Gly) c.226T>G (p.Trp76Gly) n.487T>G | |
21 | g.44333129A>G | CA410456765 | CFAP410 | c.277T>C (p.Trp93Arg) n.2448T>C n.336T>C n.393T>C c.154T>C (p.Trp52Arg) c.352T>C (p.Trp118Arg) c.-48T>C (n.-48T>C) n.480T>C c.481T>C (p.Trp161Arg) c.226T>C (p.Trp76Arg) n.487T>C | ClinVar dbSNP gnomAD v4 |
21 | g.44333129A>T | CA410456764 | CFAP410 | c.277T>A (p.Trp93Arg) n.2448T>A n.336T>A n.393T>A c.154T>A (p.Trp52Arg) c.352T>A (p.Trp118Arg) c.-48T>A (n.-48T>A) n.480T>A c.481T>A (p.Trp161Arg) c.226T>A (p.Trp76Arg) n.487T>A | |
21 | g.44333130C>A | CA512670917 | CFAP410 | c.276G>T (p.Leu92=) n.2447G>T n.335G>T n.392G>T c.153G>T (p.Leu51=) c.351G>T (p.Leu117=) c.-49G>T (n.-49G>T) n.479G>T c.480G>T (p.Leu160=) c.225G>T (p.Leu75=) n.486G>T | |
21 | g.44333130C= | CA2391590965 | CFAP410 | c.276G= (p.Leu92=) n.2447G= n.335G= n.392G= c.153G= (p.Leu51=) c.351G= (p.Leu117=) c.-49G= (n.-49G=) n.479G= c.480G= (p.Leu160=) c.225G= (p.Leu75=) n.486G= | |
21 | g.44333130C>G | CA512670920 | CFAP410 | c.276G>C (p.Leu92=) n.2447G>C n.335G>C n.392G>C c.153G>C (p.Leu51=) c.351G>C (p.Leu117=) c.-49G>C (n.-49G>C) n.479G>C c.480G>C (p.Leu160=) c.225G>C (p.Leu75=) n.486G>C | |
21 | g.44333130C>T | CA10053743 | CFAP410 | c.276G>A (p.Leu92=) n.2447G>A n.335G>A n.392G>A c.153G>A (p.Leu51=) c.351G>A (p.Leu117=) c.-49G>A (n.-49G>A) n.479G>A c.480G>A (p.Leu160=) c.225G>A (p.Leu75=) n.486G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333131A= | CA2391590966 | CFAP410 | c.275T= (p.Leu92=) n.2446T= n.334T= n.391T= c.152T= (p.Leu51=) c.350T= (p.Leu117=) c.-50T= (n.-50T=) n.478T= c.479T= (p.Leu160=) c.224T= (p.Leu75=) n.485T= | |
21 | g.44333131A>C | CA410456780 | CFAP410 | c.275T>G (p.Leu92Arg) n.2446T>G n.334T>G n.391T>G c.152T>G (p.Leu51Arg) c.350T>G (p.Leu117Arg) c.-50T>G (n.-50T>G) n.478T>G c.479T>G (p.Leu160Arg) c.224T>G (p.Leu75Arg) n.485T>G | dbSNP |
21 | g.44333131A>G | CA321784851 | CFAP410 | c.275T>C (p.Leu92Pro) n.2446T>C n.334T>C n.391T>C c.152T>C (p.Leu51Pro) c.350T>C (p.Leu117Pro) c.-50T>C (n.-50T>C) n.478T>C c.479T>C (p.Leu160Pro) c.224T>C (p.Leu75Pro) n.485T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333131A>T | CA410456781 | CFAP410 | c.275T>A (p.Leu92Gln) n.2446T>A n.334T>A n.391T>A c.152T>A (p.Leu51Gln) c.350T>A (p.Leu117Gln) c.-50T>A (n.-50T>A) n.478T>A c.479T>A (p.Leu160Gln) c.224T>A (p.Leu75Gln) n.485T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333132G>A | CA10053744 | CFAP410 | c.274C>T (p.Leu92=) n.2445C>T n.333C>T n.390C>T c.151C>T (p.Leu51=) c.349C>T (p.Leu117=) c.-51C>T (n.-51C>T) n.477C>T c.478C>T (p.Leu160=) c.223C>T (p.Leu75=) n.484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333132G>C | CA410456786 | CFAP410 | c.274C>G (p.Leu92Val) n.2445C>G n.333C>G n.390C>G c.151C>G (p.Leu51Val) c.349C>G (p.Leu117Val) c.-51C>G (n.-51C>G) n.477C>G c.478C>G (p.Leu160Val) c.223C>G (p.Leu75Val) n.484C>G | gnomAD v4 |
21 | g.44333132G= | CA2391590967 | CFAP410 | c.274C= (p.Leu92=) n.2445C= n.333C= n.390C= c.151C= (p.Leu51=) c.349C= (p.Leu117=) c.-51C= (n.-51C=) n.477C= c.478C= (p.Leu160=) c.223C= (p.Leu75=) n.484C= | |
21 | g.44333132G>T | CA410456793 | CFAP410 | c.274C>A (p.Leu92Met) n.2445C>A n.333C>A n.390C>A c.151C>A (p.Leu51Met) c.349C>A (p.Leu117Met) c.-51C>A (n.-51C>A) n.477C>A c.478C>A (p.Leu160Met) c.223C>A (p.Leu75Met) n.484C>A | |
21 | g.44333133C>A | CA512670921 | CFAP410 | c.273G>T (p.Val91=) n.2444G>T n.332G>T n.389G>T c.150G>T (p.Val50=) c.348G>T (p.Val116=) c.-52G>T (n.-52G>T) n.476G>T c.477G>T (p.Val159=) c.222G>T (p.Val74=) n.483G>T | |
21 | g.44333133C>G | CA512670923 | CFAP410 | c.273G>C (p.Val91=) n.2444G>C n.332G>C n.389G>C c.150G>C (p.Val50=) c.348G>C (p.Val116=) c.-52G>C (n.-52G>C) n.476G>C c.477G>C (p.Val159=) c.222G>C (p.Val74=) n.483G>C | |
21 | g.44333133C>T | CA512670925 | CFAP410 | c.273G>A (p.Val91=) n.2444G>A n.332G>A n.389G>A c.150G>A (p.Val50=) c.348G>A (p.Val116=) c.-52G>A (n.-52G>A) n.476G>A c.477G>A (p.Val159=) c.222G>A (p.Val74=) n.483G>A | ClinVar dbSNP gnomAD v4 |
21 | g.44333134A>C | CA410456796 | CFAP410 | c.272T>G (p.Val91Gly) n.2443T>G n.331T>G n.388T>G c.149T>G (p.Val50Gly) c.347T>G (p.Val116Gly) c.-53T>G (n.-53T>G) n.475T>G c.476T>G (p.Val159Gly) c.221T>G (p.Val74Gly) n.482T>G | |
21 | g.44333134A>G | CA410456797 | CFAP410 | c.272T>C (p.Val91Ala) n.2443T>C n.331T>C n.388T>C c.149T>C (p.Val50Ala) c.347T>C (p.Val116Ala) c.-53T>C (n.-53T>C) n.475T>C c.476T>C (p.Val159Ala) c.221T>C (p.Val74Ala) n.482T>C | |
21 | g.44333134A>T | CA410456798 | CFAP410 | c.272T>A (p.Val91Glu) n.2443T>A n.331T>A n.388T>A c.149T>A (p.Val50Glu) c.347T>A (p.Val116Glu) c.-53T>A (n.-53T>A) n.475T>A c.476T>A (p.Val159Glu) c.221T>A (p.Val74Glu) n.482T>A | |
21 | g.44333135C>A | CA410456801 | CFAP410 | c.271G>T (p.Val91Leu) n.2442G>T n.330G>T n.387G>T c.148G>T (p.Val50Leu) c.346G>T (p.Val116Leu) c.-54G>T (n.-54G>T) n.474G>T c.475G>T (p.Val159Leu) c.220G>T (p.Val74Leu) n.481G>T | |
21 | g.44333135C>G | CA410456807 | CFAP410 | c.271G>C (p.Val91Leu) n.2442G>C n.330G>C n.387G>C c.148G>C (p.Val50Leu) c.346G>C (p.Val116Leu) c.-54G>C (n.-54G>C) n.474G>C c.475G>C (p.Val159Leu) c.220G>C (p.Val74Leu) n.481G>C | gnomAD v4 |
21 | g.44333135C>T | CA410456799 | CFAP410 | c.271G>A (p.Val91Met) n.2442G>A n.330G>A n.387G>A c.148G>A (p.Val50Met) c.346G>A (p.Val116Met) c.-54G>A (n.-54G>A) n.474G>A c.475G>A (p.Val159Met) c.220G>A (p.Val74Met) n.481G>A | gnomAD v4 |
21 | g.44333136C>A | CA512670928 | CFAP410 | c.270G>T (p.Arg90=) n.2441G>T n.329G>T n.386G>T c.147G>T (p.Arg49=) c.345G>T (p.Arg115=) c.-55G>T (n.-55G>T) n.473G>T c.474G>T (p.Arg158=) c.219G>T (p.Arg73=) n.480G>T | |
21 | g.44333136C>G | CA512670930 | CFAP410 | c.270G>C (p.Arg90=) n.2441G>C n.329G>C n.386G>C c.147G>C (p.Arg49=) c.345G>C (p.Arg115=) c.-55G>C (n.-55G>C) n.473G>C c.474G>C (p.Arg158=) c.219G>C (p.Arg73=) n.480G>C | gnomAD v4 |
21 | g.44333136C>T | CA512670932 | CFAP410 | c.270G>A (p.Arg90=) n.2441G>A n.329G>A n.386G>A c.147G>A (p.Arg49=) c.345G>A (p.Arg115=) c.-55G>A (n.-55G>A) n.473G>A c.474G>A (p.Arg158=) c.219G>A (p.Arg73=) n.480G>A | |
21 | g.44333138_44333152del | CA2654807940 | CFAP410 | c.256_270del (p.Leu86_Arg90del) n.2427_2441del n.315_329del n.372_386del c.133_147del (p.Leu45_Arg49del) c.331_345del (p.Leu111_Arg115del) c.-69_-55del (n.-69_-55del) n.459_473del c.460_474del (p.Leu154_Arg158del) c.205_219del (p.Leu69_Arg73del) n.466_480del | gnomAD v4 |
21 | g.44333137C>A | CA10053746 | CFAP410 | c.269G>T (p.Arg90Leu) n.2440G>T n.328G>T n.385G>T c.146G>T (p.Arg49Leu) c.344G>T (p.Arg115Leu) c.-56G>T (n.-56G>T) n.472G>T c.473G>T (p.Arg158Leu) c.218G>T (p.Arg73Leu) n.479G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.44333137C= | CA2391590968 | CFAP410 | c.269G= (p.Arg90=) n.2440G= n.328G= n.385G= c.146G= (p.Arg49=) c.344G= (p.Arg115=) c.-56G= (n.-56G=) n.472G= c.473G= (p.Arg158=) c.218G= (p.Arg73=) n.479G= | |
21 | g.44333137C>G | CA321784857 | CFAP410 | c.269G>C (p.Arg90Pro) n.2440G>C n.328G>C n.385G>C c.146G>C (p.Arg49Pro) c.344G>C (p.Arg115Pro) c.-56G>C (n.-56G>C) n.472G>C c.473G>C (p.Arg158Pro) c.218G>C (p.Arg73Pro) n.479G>C | ClinVar dbSNP gnomAD v4 |
21 | g.44333137C>T | CA10053745 | CFAP410 | c.269G>A (p.Arg90Gln) n.2440G>A n.328G>A n.385G>A c.146G>A (p.Arg49Gln) c.344G>A (p.Arg115Gln) c.-56G>A (n.-56G>A) n.472G>A c.473G>A (p.Arg158Gln) c.218G>A (p.Arg73Gln) n.479G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333137_44333138insA | CA2818043294 | CFAP410 | c.268_269insT (p.Arg90LeufsTer?) n.2439_2440insT n.327_328insT n.384_385insT c.145_146insT (p.Arg49LeufsTer?) c.343_344insT (p.Arg115LeufsTer?) c.-57_-56insT (n.-57_-56insT) n.471_472insT c.472_473insT (p.Arg158LeufsTer?) c.217_218insT (p.Arg73LeufsTer?) n.478_479insT | |
21 | g.44333138G>A | CA410456831 | CFAP410 | c.268C>T (p.Arg90Trp) n.2439C>T n.327C>T n.384C>T c.145C>T (p.Arg49Trp) c.343C>T (p.Arg115Trp) c.-57C>T (n.-57C>T) n.471C>T c.472C>T (p.Arg158Trp) c.217C>T (p.Arg73Trp) n.478C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333138G>C | CA410456832 | CFAP410 | c.268C>G (p.Arg90Gly) n.2439C>G n.327C>G n.384C>G c.145C>G (p.Arg49Gly) c.343C>G (p.Arg115Gly) c.-57C>G (n.-57C>G) n.471C>G c.472C>G (p.Arg158Gly) c.217C>G (p.Arg73Gly) n.478C>G | dbSNP |
21 | g.44333138G= | CA2391590969 | CFAP410 | c.268C= (p.Arg90=) n.2439C= n.327C= n.384C= c.145C= (p.Arg49=) c.343C= (p.Arg115=) c.-57C= (n.-57C=) n.471C= c.472C= (p.Arg158=) c.217C= (p.Arg73=) n.478C= | |
21 | g.44333138G>T | CA512670935 | CFAP410 | c.268C>A (p.Arg90=) n.2439C>A n.327C>A n.384C>A c.145C>A (p.Arg49=) c.343C>A (p.Arg115=) c.-57C>A (n.-57C>A) n.471C>A c.472C>A (p.Arg158=) c.217C>A (p.Arg73=) n.478C>A | |
21 | g.44333139C>A | CA512670940 | CFAP410 | c.267G>T (p.Leu89=) n.2438G>T n.326G>T n.383G>T c.144G>T (p.Leu48=) c.342G>T (p.Leu114=) c.-58G>T (n.-58G>T) n.470G>T c.471G>T (p.Leu157=) c.216G>T (p.Leu72=) n.477G>T | |
21 | g.44333139C= | CA2391590970 | CFAP410 | c.267G= (p.Leu89=) n.2438G= n.326G= n.383G= c.144G= (p.Leu48=) c.342G= (p.Leu114=) c.-58G= (n.-58G=) n.470G= c.471G= (p.Leu157=) c.216G= (p.Leu72=) n.477G= | |
21 | g.44333139C>G | CA512670938 | CFAP410 | c.267G>C (p.Leu89=) n.2438G>C n.326G>C n.383G>C c.144G>C (p.Leu48=) c.342G>C (p.Leu114=) c.-58G>C (n.-58G>C) n.470G>C c.471G>C (p.Leu157=) c.216G>C (p.Leu72=) n.477G>C | gnomAD v4 |
21 | g.44333139C>T | CA512670936 | CFAP410 | c.267G>A (p.Leu89=) n.2438G>A n.326G>A n.383G>A c.144G>A (p.Leu48=) c.342G>A (p.Leu114=) c.-58G>A (n.-58G>A) n.470G>A c.471G>A (p.Leu157=) c.216G>A (p.Leu72=) n.477G>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333140A= | CA2391590971 | CFAP410 | c.266T= (p.Leu89=) n.2437T= n.325T= n.382T= c.143T= (p.Leu48=) c.341T= (p.Leu114=) c.-59T= (n.-59T=) n.469T= c.470T= (p.Leu157=) c.215T= (p.Leu72=) n.476T= | |
21 | g.44333140A>C | CA410456833 | CFAP410 | c.266T>G (p.Leu89Arg) n.2437T>G n.325T>G n.382T>G c.143T>G (p.Leu48Arg) c.341T>G (p.Leu114Arg) c.-59T>G (n.-59T>G) n.469T>G c.470T>G (p.Leu157Arg) c.215T>G (p.Leu72Arg) n.476T>G | |
21 | g.44333140A>G | CA410456834 | CFAP410 | c.266T>C (p.Leu89Pro) n.2437T>C n.325T>C n.382T>C c.143T>C (p.Leu48Pro) c.341T>C (p.Leu114Pro) c.-59T>C (n.-59T>C) n.469T>C c.470T>C (p.Leu157Pro) c.215T>C (p.Leu72Pro) n.476T>C | dbSNP gnomAD v2 gnomAD v4 |
21 | g.44333140A>T | CA410456837 | CFAP410 | c.266T>A (p.Leu89Gln) n.2437T>A n.325T>A n.382T>A c.143T>A (p.Leu48Gln) c.341T>A (p.Leu114Gln) c.-59T>A (n.-59T>A) n.469T>A c.470T>A (p.Leu157Gln) c.215T>A (p.Leu72Gln) n.476T>A | |
21 | g.44333141G>A | CA512670942 | CFAP410 | c.265C>T (p.Leu89=) n.2436C>T n.324C>T n.381C>T c.142C>T (p.Leu48=) c.340C>T (p.Leu114=) c.-60C>T (n.-60C>T) n.468C>T c.469C>T (p.Leu157=) c.214C>T (p.Leu72=) n.475C>T | |
21 | g.44333141G>C | CA410456841 | CFAP410 | c.265C>G (p.Leu89Val) n.2436C>G n.324C>G n.381C>G c.142C>G (p.Leu48Val) c.340C>G (p.Leu114Val) c.-60C>G (n.-60C>G) n.468C>G c.469C>G (p.Leu157Val) c.214C>G (p.Leu72Val) n.475C>G | |
21 | g.44333141G>T | CA410456846 | CFAP410 | c.265C>A (p.Leu89Met) n.2436C>A n.324C>A n.381C>A c.142C>A (p.Leu48Met) c.340C>A (p.Leu114Met) c.-60C>A (n.-60C>A) n.468C>A c.469C>A (p.Leu157Met) c.214C>A (p.Leu72Met) n.475C>A | |
21 | g.44333142A>C | CA512670943 | CFAP410 | c.264T>G (p.Arg88=) n.2435T>G n.323T>G n.380T>G c.141T>G (p.Arg47=) c.339T>G (p.Arg113=) c.-61T>G (n.-61T>G) n.467T>G c.468T>G (p.Arg156=) c.213T>G (p.Arg71=) n.474T>G | |
21 | g.44333142A>G | CA512670944 | CFAP410 | c.264T>C (p.Arg88=) n.2435T>C n.323T>C n.380T>C c.141T>C (p.Arg47=) c.339T>C (p.Arg113=) c.-61T>C (n.-61T>C) n.467T>C c.468T>C (p.Arg156=) c.213T>C (p.Arg71=) n.474T>C | |
21 | g.44333142A>T | CA512670946 | CFAP410 | c.264T>A (p.Arg88=) n.2435T>A n.323T>A n.380T>A c.141T>A (p.Arg47=) c.339T>A (p.Arg113=) c.-61T>A (n.-61T>A) n.467T>A c.468T>A (p.Arg156=) c.213T>A (p.Arg71=) n.474T>A | |
21 | g.44333143C>A | CA410456853 | CFAP410 | c.263G>T (p.Arg88Leu) n.2434G>T n.322G>T n.379G>T c.140G>T (p.Arg47Leu) c.338G>T (p.Arg113Leu) c.-62G>T (n.-62G>T) n.466G>T c.467G>T (p.Arg156Leu) c.212G>T (p.Arg71Leu) n.473G>T | |
21 | g.44333143C= | CA2391590972 | CFAP410 | c.263G= (p.Arg88=) n.2434G= n.322G= n.379G= c.140G= (p.Arg47=) c.338G= (p.Arg113=) c.-62G= (n.-62G=) n.466G= c.467G= (p.Arg156=) c.212G= (p.Arg71=) n.473G= | |
21 | g.44333143C>G | CA410456856 | CFAP410 | c.263G>C (p.Arg88Pro) n.2434G>C n.322G>C n.379G>C c.140G>C (p.Arg47Pro) c.338G>C (p.Arg113Pro) c.-62G>C (n.-62G>C) n.466G>C c.467G>C (p.Arg156Pro) c.212G>C (p.Arg71Pro) n.473G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.44333143C>T | CA10053747 | CFAP410 | c.263G>A (p.Arg88His) n.2434G>A n.322G>A n.379G>A c.140G>A (p.Arg47His) c.338G>A (p.Arg113His) c.-62G>A (n.-62G>A) n.466G>A c.467G>A (p.Arg156His) c.212G>A (p.Arg71His) n.473G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.44333144G>A | CA410456867 | CFAP410 | c.262C>T (p.Arg88Cys) n.2433C>T n.321C>T n.378C>T c.139C>T (p.Arg47Cys) c.337C>T (p.Arg113Cys) c.-63C>T (n.-63C>T) n.465C>T c.466C>T (p.Arg156Cys) c.211C>T (p.Arg71Cys) n.472C>T | ClinVar dbSNP gnomAD v4 |
21 | g.44333144G>C | CA321784863 | CFAP410 | c.262C>G (p.Arg88Gly) n.2433C>G n.321C>G n.378C>G c.139C>G (p.Arg47Gly) c.337C>G (p.Arg113Gly) c.-63C>G (n.-63C>G) n.465C>G c.466C>G (p.Arg156Gly) c.211C>G (p.Arg71Gly) n.472C>G | dbSNP gnomAD v3 gnomAD v4 |
21 | g.44333144G= | CA2391590973 | CFAP410 | c.262C= (p.Arg88=) n.2433C= n.321C= n.378C= c.139C= (p.Arg47=) c.337C= (p.Arg113=) c.-63C= (n.-63C=) n.465C= c.466C= (p.Arg156=) c.211C= (p.Arg71=) n.472C= | |
21 | g.44333144G>T | CA410456861 | CFAP410 | c.262C>A (p.Arg88Ser) n.2433C>A n.321C>A n.378C>A c.139C>A (p.Arg47Ser) c.337C>A (p.Arg113Ser) c.-63C>A (n.-63C>A) n.465C>A c.466C>A (p.Arg156Ser) c.211C>A (p.Arg71Ser) n.472C>A | |
21 | g.44333145C>A | CA512670949 | CFAP410 | c.261G>T (p.Pro87=) n.2432G>T n.320G>T n.377G>T c.138G>T (p.Pro46=) c.336G>T (p.Pro112=) c.-64G>T (n.-64G>T) n.464G>T c.465G>T (p.Pro155=) c.210G>T (p.Pro70=) n.471G>T | gnomAD v4 |
21 | g.44333145C= | CA2391590974 | CFAP410 | c.261G= (p.Pro87=) n.2432G= n.320G= n.377G= c.138G= (p.Pro46=) c.336G= (p.Pro112=) c.-64G= (n.-64G=) n.464G= c.465G= (p.Pro155=) c.210G= (p.Pro70=) n.471G= | |
21 | g.44333145C>G | CA512670950 | CFAP410 | c.261G>C (p.Pro87=) n.2432G>C n.320G>C n.377G>C c.138G>C (p.Pro46=) c.336G>C (p.Pro112=) c.-64G>C (n.-64G>C) n.464G>C c.465G>C (p.Pro155=) c.210G>C (p.Pro70=) n.471G>C | |
21 | g.44333145C>T | CA512670951 | CFAP410 | c.261G>A (p.Pro87=) n.2432G>A n.320G>A n.377G>A c.138G>A (p.Pro46=) c.336G>A (p.Pro112=) c.-64G>A (n.-64G>A) n.464G>A c.465G>A (p.Pro155=) c.210G>A (p.Pro70=) n.471G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.44333146_44333154dup | CA2654807941 | CFAP410 | c.253_261dup (p.Pro87_Arg88insGlyLeuPro) n.2424_2432dup n.312_320dup n.369_377dup c.130_138dup (p.Pro46_Arg47insGlyLeuPro) c.328_336dup (p.Pro112_Arg113insGlyLeuPro) c.-72_-64dup (n.-72_-64dup) n.456_464dup c.457_465dup (p.Pro155_Arg156insGlyLeuPro) c.202_210dup (p.Pro70_Arg71insGlyLeuPro) n.463_471dup | gnomAD v4 |