Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.130592944_130592950dup | CA2661125015 | CFC1 | c.606_612dup (p.Ser205GlyfsTer?) c.491_497dup (p.Pro167ValfsTer22) c.381_387dup (p.Ser130GlyfsTer?) | gnomAD v4 |
2 | g.130592944_130592950del | CA2661125016 | CFC1 | c.606_612del (p.Val203ProfsTer26) c.491_497del (p.Trp164PhefsTer?) c.381_387del (p.Val128ProfsTer26) | gnomAD v4 |
2 | g.130592944A>C | CA348502357 | CFC1 | c.605T>G (p.Leu202Arg) c.490T>G (p.Trp164Gly) c.380T>G (p.Leu127Arg) | |
2 | g.130592944A>G | CA348502358 | CFC1 | c.605T>C (p.Leu202Pro) c.490T>C (p.Trp164Arg) c.380T>C (p.Leu127Pro) | |
2 | g.130592944A>T | CA348502359 | CFC1 | c.605T>A (p.Leu202Gln) c.490T>A (p.Trp164Arg) c.380T>A (p.Leu127Gln) | |
2 | g.130592945G>A | CA428885195 | CFC1 | c.604C>T (p.Leu202=) c.489C>T (p.Pro163=) c.379C>T (p.Leu127=) | gnomAD v4 |
2 | g.130592945G>C | CA348502361 | CFC1 | c.604C>G (p.Leu202Val) c.489C>G (p.Pro163=) c.379C>G (p.Leu127Val) | gnomAD v4 |
2 | g.130592945G>T | CA348502360 | CFC1 | c.604C>A (p.Leu202Met) c.489C>A (p.Pro163=) c.379C>A (p.Leu127Met) | |
2 | g.130592946G>A | CA348502362 | CFC1 | c.603C>T (p.Ser201=) c.488C>T (p.Pro163Leu) c.378C>T (p.Ser126=) | gnomAD v4 |
2 | g.130592946G>C | CA348502363 | CFC1 | c.603C>G (p.Ser201=) c.488C>G (p.Pro163Arg) c.378C>G (p.Ser126=) | |
2 | g.130592946G>T | CA348502364 | CFC1 | c.603C>A (p.Ser201=) c.488C>A (p.Pro163His) c.378C>A (p.Ser126=) | |
2 | g.130592947G>A | CA348502365 | CFC1 | c.602C>T (p.Ser201Phe) c.487C>T (p.Pro163Ser) c.377C>T (p.Ser126Phe) | |
2 | g.130592947G>C | CA348502366 | CFC1 | c.602C>G (p.Ser201Cys) c.487C>G (p.Pro163Ala) c.377C>G (p.Ser126Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592947G= | CA1288363465 | CFC1 | c.602C= (p.Ser201=) c.487C= (p.Pro163=) c.377C= (p.Ser126=) | |
2 | g.130592947G>T | CA348502367 | CFC1 | c.602C>A (p.Ser201Tyr) c.487C>A (p.Pro163Thr) c.377C>A (p.Ser126Tyr) | |
2 | g.130592948A= | CA1288363466 | CFC1 | c.601T= (p.Ser201=) c.486T= (p.Gly162=) c.376T= (p.Ser126=) | |
2 | g.130592948A>C | CA348502368 | CFC1 | c.601T>G (p.Ser201Ala) c.486T>G (p.Gly162=) c.376T>G (p.Ser126Ala) | dbSNP gnomAD v4 |
2 | g.130592948A>G | CA348502369 | CFC1 | c.601T>C (p.Ser201Pro) c.486T>C (p.Gly162=) c.376T>C (p.Ser126Pro) | |
2 | g.130592948A>T | CA348502370 | CFC1 | c.601T>A (p.Ser201Thr) c.486T>A (p.Gly162=) c.376T>A (p.Ser126Thr) | |
2 | g.130592949C>A | CA290057 | CFC1 | c.600G>T (p.Arg200=) c.485G>T (p.Gly162Val) c.375G>T (p.Arg125=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592949C= | CA1288363467 | CFC1 | c.600G= (p.Arg200=) c.485G= (p.Gly162=) c.375G= (p.Arg125=) | |
2 | g.130592949C>G | CA348502371 | CFC1 | c.600G>C (p.Arg200=) c.485G>C (p.Gly162Ala) c.375G>C (p.Arg125=) | |
2 | g.130592949C>T | CA348502372 | CFC1 | c.600G>A (p.Arg200=) c.485G>A (p.Gly162Asp) c.375G>A (p.Arg125=) | gnomAD v4 |
2 | g.130592950C>A | CA348502375 | CFC1 | c.599G>T (p.Arg200Leu) c.484G>T (p.Gly162Cys) c.374G>T (p.Arg125Leu) | |
2 | g.130592950C= | CA1288363468 | CFC1 | c.599G= (p.Arg200=) c.484G= (p.Gly162=) c.374G= (p.Arg125=) | |
2 | g.130592950C>G | CA348502374 | CFC1 | c.599G>C (p.Arg200Pro) c.484G>C (p.Gly162Arg) c.374G>C (p.Arg125Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592950C>T | CA348502373 | CFC1 | c.599G>A (p.Arg200Gln) c.484G>A (p.Gly162Ser) c.374G>A (p.Arg125Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592951G>A | CA348502377 | CFC1 | c.598C>T (p.Arg200Trp) c.483C>T (p.Leu161=) c.373C>T (p.Arg125Trp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592951G>C | CA348502376 | CFC1 | c.598C>G (p.Arg200Gly) c.483C>G (p.Leu161=) c.373C>G (p.Arg125Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592951G= | CA1288363469 | CFC1 | c.598C= (p.Arg200=) c.483C= (p.Leu161=) c.373C= (p.Arg125=) | |
2 | g.130592951G>T | CA428885205 | CFC1 | c.598C>A (p.Arg200=) c.483C>A (p.Leu161=) c.373C>A (p.Arg125=) | gnomAD v4 |
2 | g.130592952A= | CA1288363470 | CFC1 | c.597T= (p.Pro199=) c.482T= (p.Leu161=) c.372T= (p.Pro124=) | |
2 | g.130592952A>C | CA348502378 | CFC1 | c.597T>G (p.Pro199=) c.482T>G (p.Leu161Arg) c.372T>G (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592952A>G | CA348502379 | CFC1 | c.597T>C (p.Pro199=) c.482T>C (p.Leu161Pro) c.372T>C (p.Pro124=) | |
2 | g.130592952A>T | CA348502380 | CFC1 | c.597T>A (p.Pro199=) c.482T>A (p.Leu161His) c.372T>A (p.Pro124=) | |
2 | g.130592952dup | CA2661125017 | CFC1 | c.597dup (p.Arg200SerfsTer?) c.482dup (p.Gly162ArgfsTer25) c.372dup (p.Arg125SerfsTer?) | gnomAD v4 |
2 | g.130592953G>A | CA348502381 | CFC1 | c.596C>T (p.Pro199Leu) c.481C>T (p.Leu161Phe) c.371C>T (p.Pro124Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592953G>C | CA348502382 | CFC1 | c.596C>G (p.Pro199Arg) c.481C>G (p.Leu161Val) c.371C>G (p.Pro124Arg) | |
2 | g.130592953G= | CA1288363471 | CFC1 | c.596C= (p.Pro199=) c.481C= (p.Leu161=) c.371C= (p.Pro124=) | |
2 | g.130592953G>T | CA348502383 | CFC1 | c.596C>A (p.Pro199His) c.481C>A (p.Leu161Ile) c.371C>A (p.Pro124His) | |
2 | g.130592954G>A | CA348502384 | CFC1 | c.595C>T (p.Pro199Ser) c.480C>T (p.Thr160=) c.370C>T (p.Pro124Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592954G>C | CA348502385 | CFC1 | c.595C>G (p.Pro199Ala) c.480C>G (p.Thr160=) c.370C>G (p.Pro124Ala) | |
2 | g.130592954G= | CA1288363472 | CFC1 | c.595C= (p.Pro199=) c.480C= (p.Thr160=) c.370C= (p.Pro124=) | |
2 | g.130592954G>T | CA348502386 | CFC1 | c.595C>A (p.Pro199Thr) c.480C>A (p.Thr160=) c.370C>A (p.Pro124Thr) | |
2 | g.130592955G>A | CA348502387 | CFC1 | c.594C>T (p.His198=) c.479C>T (p.Thr160Ile) c.369C>T (p.His123=) | |
2 | g.130592955G>C | CA348502388 | CFC1 | c.594C>G (p.His198Gln) c.479C>G (p.Thr160Ser) c.369C>G (p.His123Gln) | |
2 | g.130592955G>T | CA348502389 | CFC1 | c.594C>A (p.His198Gln) c.479C>A (p.Thr160Asn) c.369C>A (p.His123Gln) | |
2 | g.130592956T>A | CA348502392 | CFC1 | c.593A>T (p.His198Leu) c.478A>T (p.Thr160Ser) c.368A>T (p.His123Leu) | |
2 | g.130592956T>C | CA348502390 | CFC1 | c.593A>G (p.His198Arg) c.478A>G (p.Thr160Ala) c.368A>G (p.His123Arg) | |
2 | g.130592956T>G | CA348502391 | CFC1 | c.593A>C (p.His198Pro) c.478A>C (p.Thr160Pro) c.368A>C (p.His123Pro) | |
2 | g.130592957G>A | CA348502393 | CFC1 | c.592C>T (p.His198Tyr) c.477C>T (p.Arg159=) c.367C>T (p.His123Tyr) | gnomAD v4 |
2 | g.130592957G>C | CA348502394 | CFC1 | c.592C>G (p.His198Asp) c.477C>G (p.Arg159=) c.367C>G (p.His123Asp) | |
2 | g.130592957G>T | CA348502395 | CFC1 | c.592C>A (p.His198Asn) c.477C>A (p.Arg159=) c.367C>A (p.His123Asn) | |
2 | g.130592958C>A | CA348502396 | CFC1 | c.591G>T (p.Ala197=) c.476G>T (p.Arg159Leu) c.366G>T (p.Ala122=) | gnomAD v4 |
2 | g.130592958C= | CA1288363473 | CFC1 | c.591G= (p.Ala197=) c.476G= (p.Arg159=) c.366G= (p.Ala122=) | |
2 | g.130592958C>G | CA348502397 | CFC1 | c.591G>C (p.Ala197=) c.476G>C (p.Arg159Pro) c.366G>C (p.Ala122=) | |
2 | g.130592958C>T | CA348502398 | CFC1 | c.591G>A (p.Ala197=) c.476G>A (p.Arg159His) c.366G>A (p.Ala122=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592959G>A | CA348502399 | CFC1 | c.590C>T (p.Ala197Val) c.475C>T (p.Arg159Cys) c.365C>T (p.Ala122Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592959G>C | CA348502400 | CFC1 | c.590C>G (p.Ala197Gly) c.475C>G (p.Arg159Gly) c.365C>G (p.Ala122Gly) | gnomAD v4 |
2 | g.130592959G= | CA1288363474 | CFC1 | c.590C= (p.Ala197=) c.475C= (p.Arg159=) c.365C= (p.Ala122=) | |
2 | g.130592959G>T | CA348502401 | CFC1 | c.590C>A (p.Ala197Glu) c.475C>A (p.Arg159Ser) c.365C>A (p.Ala122Glu) | |
2 | g.130592959_130592969delinsGCGGGCGCATC | CA1288363475 | CFC1 | c.580_590delinsGATGCGCCCGC (p.Asp194=) c.465_475delinsGATGCGCCCGC (p.Arg155=) c.355_365delinsGATGCGCCCGC (p.Asp119=) | |
2 | g.130592960del | CA2661125018 | CFC1 | c.589del (p.Ala197ArgfsTer?) c.474del (p.Arg159AlafsTer?) c.364del (p.Ala122ArgfsTer?) | gnomAD v4 |
2 | g.130592960C>A | CA348502402 | CFC1 | c.589G>T (p.Ala197Ser) c.474G>T (p.Pro158=) c.364G>T (p.Ala122Ser) | gnomAD v4 |
2 | g.130592960C= | CA1288363476 | CFC1 | c.589G= (p.Ala197=) c.474G= (p.Pro158=) c.364G= (p.Ala122=) | |
2 | g.130592960C>G | CA348502403 | CFC1 | c.589G>C (p.Ala197Pro) c.474G>C (p.Pro158=) c.364G>C (p.Ala122Pro) | |
2 | g.130592960C>T | CA348502404 | CFC1 | c.589G>A (p.Ala197Thr) c.474G>A (p.Pro158=) c.364G>A (p.Ala122Thr) | dbSNP gnomAD v4 |
2 | g.130592968_130592977del | CA914472695 | CFC1 | c.580_589del (p.Asp194ArgfsTer?) c.465_474del (p.Met156AlafsTer?) c.355_364del (p.Asp119ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592961G>A | CA348502405 | CFC1 | c.588C>T (p.Pro196=) c.473C>T (p.Pro158Leu) c.363C>T (p.Pro121=) | dbSNP gnomAD v4 |
2 | g.130592961G>C | CA348502406 | CFC1 | c.588C>G (p.Pro196=) c.473C>G (p.Pro158Arg) c.363C>G (p.Pro121=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592961G= | CA1288363477 | CFC1 | c.588C= (p.Pro196=) c.473C= (p.Pro158=) c.363C= (p.Pro121=) | |
2 | g.130592961G>T | CA290054 | CFC1 | c.588C>A (p.Pro196=) c.473C>A (p.Pro158Gln) c.363C>A (p.Pro121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592963del | CA2661125019 | CFC1 | c.588del (p.Ala197ArgfsTer?) c.473del (p.Pro158ArgfsTer?) c.363del (p.Ala122ArgfsTer?) | gnomAD v4 |
2 | g.130592962G>A | CA348502407 | CFC1 | c.587C>T (p.Pro196Leu) c.472C>T (p.Pro158Ser) c.362C>T (p.Pro121Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592962G>C | CA348502409 | CFC1 | c.587C>G (p.Pro196Arg) c.472C>G (p.Pro158Ala) c.362C>G (p.Pro121Arg) | gnomAD v4 |
2 | g.130592962G= | CA1288363478 | CFC1 | c.587C= (p.Pro196=) c.472C= (p.Pro158=) c.362C= (p.Pro121=) | |
2 | g.130592962G>T | CA348502408 | CFC1 | c.587C>A (p.Pro196His) c.472C>A (p.Pro158Thr) c.362C>A (p.Pro121His) | |
2 | g.130592963G>A | CA348502410 | CFC1 | c.586C>T (p.Pro196Ser) c.471C>T (p.Arg157=) c.361C>T (p.Pro121Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592963G>C | CA348502411 | CFC1 | c.586C>G (p.Pro196Ala) c.471C>G (p.Arg157=) c.361C>G (p.Pro121Ala) | |
2 | g.130592963G= | CA1288363479 | CFC1 | c.586C= (p.Pro196=) c.471C= (p.Arg157=) c.361C= (p.Pro121=) | |
2 | g.130592963G>T | CA348502412 | CFC1 | c.586C>A (p.Pro196Thr) c.471C>A (p.Arg157=) c.361C>A (p.Pro121Thr) | |
2 | g.130592964C>A | CA348502413 | CFC1 | c.585G>T (p.Ala195=) c.470G>T (p.Arg157Leu) c.360G>T (p.Ala120=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.130592964C= | CA1288363480 | CFC1 | c.585G= (p.Ala195=) c.470G= (p.Arg157=) c.360G= (p.Ala120=) | |
2 | g.130592964C>G | CA348502414 | CFC1 | c.585G>C (p.Ala195=) c.470G>C (p.Arg157Pro) c.360G>C (p.Ala120=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592964C>T | CA348502415 | CFC1 | c.585G>A (p.Ala195=) c.470G>A (p.Arg157His) c.360G>A (p.Ala120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592965G>A | CA348502416 | CFC1 | c.584C>T (p.Ala195Val) c.469C>T (p.Arg157Cys) c.359C>T (p.Ala120Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592965G>C | CA348502417 | CFC1 | c.584C>G (p.Ala195Gly) c.469C>G (p.Arg157Gly) c.359C>G (p.Ala120Gly) | |
2 | g.130592965G= | CA1288363481 | CFC1 | c.584C= (p.Ala195=) c.469C= (p.Arg157=) c.359C= (p.Ala120=) | |
2 | g.130592965G>T | CA348502418 | CFC1 | c.584C>A (p.Ala195Glu) c.469C>A (p.Arg157Ser) c.359C>A (p.Ala120Glu) | |
2 | g.130592966C>A | CA348502419 | CFC1 | c.583G>T (p.Ala195Ser) c.468G>T (p.Met156Ile) c.358G>T (p.Ala120Ser) | |
2 | g.130592966C>G | CA348502420 | CFC1 | c.583G>C (p.Ala195Pro) c.468G>C (p.Met156Ile) c.358G>C (p.Ala120Pro) | |
2 | g.130592966C>T | CA348502421 | CFC1 | c.583G>A (p.Ala195Thr) c.468G>A (p.Met156Ile) c.358G>A (p.Ala120Thr) | |
2 | g.130592967A>C | CA348502422 | CFC1 | c.582T>G (p.Asp194Glu) c.467T>G (p.Met156Arg) c.357T>G (p.Asp119Glu) | |
2 | g.130592967A>G | CA348502424 | CFC1 | c.582T>C (p.Asp194=) c.467T>C (p.Met156Thr) c.357T>C (p.Asp119=) | |
2 | g.130592967A>T | CA348502423 | CFC1 | c.582T>A (p.Asp194Glu) c.467T>A (p.Met156Lys) c.357T>A (p.Asp119Glu) | |
2 | g.130592968T>A | CA348502425 | CFC1 | c.581A>T (p.Asp194Val) c.466A>T (p.Met156Leu) c.356A>T (p.Asp119Val) | |
2 | g.130592968T>C | CA348502426 | CFC1 | c.581A>G (p.Asp194Gly) c.466A>G (p.Met156Val) c.356A>G (p.Asp119Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592968T>G | CA348502427 | CFC1 | c.581A>C (p.Asp194Ala) c.466A>C (p.Met156Leu) c.356A>C (p.Asp119Ala) | |
2 | g.130592968T= | CA1288363482 | CFC1 | c.581A= (p.Asp194=) c.466A= (p.Met156=) c.356A= (p.Asp119=) | |
2 | g.130592969C>A | CA348502428 | CFC1 | c.580G>T (p.Asp194Tyr) c.465G>T (p.Arg155=) c.355G>T (p.Asp119Tyr) | |
2 | g.130592969C>G | CA348502429 | CFC1 | c.580G>C (p.Asp194His) c.465G>C (p.Arg155=) c.355G>C (p.Asp119His) | |
2 | g.130592969C>T | CA348502430 | CFC1 | c.580G>A (p.Asp194Asn) c.465G>A (p.Arg155=) c.355G>A (p.Asp119Asn) | |
2 | g.130592970C>A | CA348502431 | CFC1 | c.579G>T (p.Pro193=) c.464G>T (p.Arg155Leu) c.354G>T (p.Pro118=) | |
2 | g.130592970C= | CA1288363483 | CFC1 | c.579G= (p.Pro193=) c.464G= (p.Arg155=) c.354G= (p.Pro118=) | |
2 | g.130592970C>G | CA348502432 | CFC1 | c.579G>C (p.Pro193=) c.464G>C (p.Arg155Pro) c.354G>C (p.Pro118=) | gnomAD v4 |
2 | g.130592970C>T | CA348502433 | CFC1 | c.579G>A (p.Pro193=) c.464G>A (p.Arg155Gln) c.354G>A (p.Pro118=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592971G>A | CA348502435 | CFC1 | c.578C>T (p.Pro193Leu) c.463C>T (p.Arg155Trp) c.353C>T (p.Pro118Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592971G>C | CA348502436 | CFC1 | c.578C>G (p.Pro193Arg) c.463C>G (p.Arg155Gly) c.353C>G (p.Pro118Arg) | gnomAD v4 |
2 | g.130592971G= | CA1288363484 | CFC1 | c.578C= (p.Pro193=) c.463C= (p.Arg155=) c.353C= (p.Pro118=) | |
2 | g.130592971G>T | CA348502434 | CFC1 | c.578C>A (p.Pro193Gln) c.463C>A (p.Arg155=) c.353C>A (p.Pro118Gln) | gnomAD v4 |
2 | g.130592972G>A | CA348502437 | CFC1 | c.577C>T (p.Pro193Ser) c.462C>T (p.Ala154=) c.352C>T (p.Pro118Ser) | gnomAD v4 |
2 | g.130592972G>C | CA348502439 | CFC1 | c.577C>G (p.Pro193Ala) c.462C>G (p.Ala154=) c.352C>G (p.Pro118Ala) | |
2 | g.130592972G>T | CA348502441 | CFC1 | c.577C>A (p.Pro193Thr) c.462C>A (p.Ala154=) c.352C>A (p.Pro118Thr) | gnomAD v4 |
2 | g.130592973G>A | CA348502443 | CFC1 | c.576C>T (p.Arg192=) c.461C>T (p.Ala154Val) c.351C>T (p.Arg117=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592973G>C | CA348502445 | CFC1 | c.576C>G (p.Arg192=) c.461C>G (p.Ala154Gly) c.351C>G (p.Arg117=) | dbSNP gnomAD v4 |
2 | g.130592973G= | CA1288363485 | CFC1 | c.576C= (p.Arg192=) c.461C= (p.Ala154=) c.351C= (p.Arg117=) | |
2 | g.130592973G>T | CA348502448 | CFC1 | c.576C>A (p.Arg192=) c.461C>A (p.Ala154Asp) c.351C>A (p.Arg117=) | |
2 | g.130592980_130593001del | CA2752191866 | CFC1 | c.555_576del (p.Leu186ArgfsTer?) c.440_461del (p.His147ProfsTer?) c.330_351del (p.Leu111ArgfsTer?) | |
2 | g.130592974C>A | CA348502450 | CFC1 | c.575G>T (p.Arg192Leu) c.460G>T (p.Ala154Ser) c.350G>T (p.Arg117Leu) | dbSNP |
2 | g.130592974C= | CA1288363487 | CFC1 | c.575G= (p.Arg192=) c.460G= (p.Ala154=) c.350G= (p.Arg117=) | |
2 | g.130592974C>G | CA348502452 | CFC1 | c.575G>C (p.Arg192Pro) c.460G>C (p.Ala154Pro) c.350G>C (p.Arg117Pro) | |
2 | g.130592974C>T | CA348502454 | CFC1 | c.575G>A (p.Arg192His) c.460G>A (p.Ala154Thr) c.350G>A (p.Arg117His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.130592974_130592986delinsCGCAGGAGGCGGT | CA1288363486 | CFC1 | c.563_575delinsACCGCCTCCTGCG (p.His188=) c.448_460delinsACCGCCTCCTGCG (p.Thr150=) c.338_350delinsACCGCCTCCTGCG (p.His113=) | |
2 | g.130592975G>A | CA348502457 | CFC1 | c.574C>T (p.Arg192Cys) c.459C>T (p.Cys153=) c.349C>T (p.Arg117Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592975G>C | CA348502459 | CFC1 | c.574C>G (p.Arg192Gly) c.459C>G (p.Cys153Trp) c.349C>G (p.Arg117Gly) | gnomAD v4 |
2 | g.130592975G= | CA1288363488 | CFC1 | c.574C= (p.Arg192=) c.459C= (p.Cys153=) c.349C= (p.Arg117=) | |
2 | g.130592975G>T | CA348502462 | CFC1 | c.574C>A (p.Arg192Ser) c.459C>A (p.Cys153Ter) c.349C>A (p.Arg117Ser) | gnomAD v4 |
2 | g.130592982_130592993del | CA1036409749 | CFC1 | c.563_574del (p.His188_Leu191del) c.448_459del (p.Thr150_Cys153del) c.338_349del (p.His113_Leu116del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592976C>A | CA348502467 | CFC1 | c.573G>T (p.Leu191=) c.458G>T (p.Cys153Phe) c.348G>T (p.Leu116=) | |
2 | g.130592976C>G | CA348502470 | CFC1 | c.573G>C (p.Leu191=) c.458G>C (p.Cys153Ser) c.348G>C (p.Leu116=) | |
2 | g.130592976C>T | CA348502465 | CFC1 | c.573G>A (p.Leu191=) c.458G>A (p.Cys153Tyr) c.348G>A (p.Leu116=) | |
2 | g.130592977A>C | CA348502473 | CFC1 | c.572T>G (p.Leu191Arg) c.457T>G (p.Cys153Gly) c.347T>G (p.Leu116Arg) | |
2 | g.130592977A>G | CA348502475 | CFC1 | c.572T>C (p.Leu191Pro) c.457T>C (p.Cys153Arg) c.347T>C (p.Leu116Pro) | |
2 | g.130592977A>T | CA348502477 | CFC1 | c.572T>A (p.Leu191Gln) c.457T>A (p.Cys153Ser) c.347T>A (p.Leu116Gln) | |
2 | g.130592978G>A | CA428885247 | CFC1 | c.571C>T (p.Leu191=) c.456C>T (p.Ser152=) c.346C>T (p.Leu116=) | |
2 | g.130592978G>C | CA348502480 | CFC1 | c.571C>G (p.Leu191Val) c.456C>G (p.Ser152=) c.346C>G (p.Leu116Val) | |
2 | g.130592978G>T | CA348502482 | CFC1 | c.571C>A (p.Leu191Met) c.456C>A (p.Ser152=) c.346C>A (p.Leu116Met) | |
2 | g.130592979G>A | CA348502489 | CFC1 | c.570C>T (p.Leu190=) c.455C>T (p.Ser152Phe) c.345C>T (p.Leu115=) | gnomAD v4 |
2 | g.130592979G>C | CA348502484 | CFC1 | c.570C>G (p.Leu190=) c.455C>G (p.Ser152Cys) c.345C>G (p.Leu115=) | |
2 | g.130592979G>T | CA348502487 | CFC1 | c.570C>A (p.Leu190=) c.455C>A (p.Ser152Tyr) c.345C>A (p.Leu115=) | |
2 | g.130592980A>C | CA348502492 | CFC1 | c.569T>G (p.Leu190Arg) c.454T>G (p.Ser152Ala) c.344T>G (p.Leu115Arg) | |
2 | g.130592980A>G | CA348502495 | CFC1 | c.569T>C (p.Leu190Pro) c.454T>C (p.Ser152Pro) c.344T>C (p.Leu115Pro) | |
2 | g.130592980A>T | CA348502497 | CFC1 | c.569T>A (p.Leu190His) c.454T>A (p.Ser152Thr) c.344T>A (p.Leu115His) | |
2 | g.130592981G>A | CA348502499 | CFC1 | c.568C>T (p.Leu190Phe) c.453C>T (p.Ala151=) c.343C>T (p.Leu115Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592981G>C | CA348502500 | CFC1 | c.568C>G (p.Leu190Val) c.453C>G (p.Ala151=) c.343C>G (p.Leu115Val) | |
2 | g.130592981G= | CA1288363489 | CFC1 | c.568C= (p.Leu190=) c.453C= (p.Ala151=) c.343C= (p.Leu115=) | |
2 | g.130592981G>T | CA348502503 | CFC1 | c.568C>A (p.Leu190Ile) c.453C>A (p.Ala151=) c.343C>A (p.Leu115Ile) | |
2 | g.130592982G>A | CA348502508 | CFC1 | c.567C>T (p.Arg189=) c.452C>T (p.Ala151Val) c.342C>T (p.Arg114=) | dbSNP gnomAD v4 |
2 | g.130592982G>C | CA348502510 | CFC1 | c.567C>G (p.Arg189=) c.452C>G (p.Ala151Gly) c.342C>G (p.Arg114=) | |
2 | g.130592982G= | CA1288363490 | CFC1 | c.567C= (p.Arg189=) c.452C= (p.Ala151=) c.342C= (p.Arg114=) | |
2 | g.130592982G>T | CA348502506 | CFC1 | c.567C>A (p.Arg189=) c.452C>A (p.Ala151Asp) c.342C>A (p.Arg114=) | |
2 | g.130592983C>A | CA348502516 | CFC1 | c.566G>T (p.Arg189Leu) c.451G>T (p.Ala151Ser) c.341G>T (p.Arg114Leu) | dbSNP gnomAD v4 |
2 | g.130592983C= | CA1288363491 | CFC1 | c.566G= (p.Arg189=) c.451G= (p.Ala151=) c.341G= (p.Arg114=) | |
2 | g.130592983C>G | CA348502513 | CFC1 | c.566G>C (p.Arg189Pro) c.451G>C (p.Ala151Pro) c.341G>C (p.Arg114Pro) | |
2 | g.130592983C>T | CA348502518 | CFC1 | c.566G>A (p.Arg189His) c.451G>A (p.Ala151Thr) c.341G>A (p.Arg114His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592983_130592989delinsCGGTGCA | CA1288363492 | CFC1 | c.560_566delinsTGCACCG (p.Leu187=) c.445_451delinsTGCACCG (p.Cys149=) c.335_341delinsTGCACCG (p.Leu112=) | |
2 | g.130592984G>A | CA348502521 | CFC1 | c.565C>T (p.Arg189Cys) c.450C>T (p.Thr150=) c.340C>T (p.Arg114Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592984G>C | CA348502525 | CFC1 | c.565C>G (p.Arg189Gly) c.450C>G (p.Thr150=) c.340C>G (p.Arg114Gly) | |
2 | g.130592984G= | CA1288363493 | CFC1 | c.565C= (p.Arg189=) c.450C= (p.Thr150=) c.340C= (p.Arg114=) | |
2 | g.130592984G>T | CA348502523 | CFC1 | c.565C>A (p.Arg189Ser) c.450C>A (p.Thr150=) c.340C>A (p.Arg114Ser) | gnomAD v3 gnomAD v4 |
2 | g.130592986_130592991del | CA756946237 | CFC1 | c.560_565del (p.Leu187_His188del) c.445_450del (p.Cys149_Thr150del) c.335_340del (p.Leu112_His113del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592985G>A | CA348502528 | CFC1 | c.564C>T (p.His188=) c.449C>T (p.Thr150Ile) c.339C>T (p.His113=) | gnomAD v4 |
2 | g.130592985G>C | CA348502533 | CFC1 | c.564C>G (p.His188Gln) c.449C>G (p.Thr150Ser) c.339C>G (p.His113Gln) | |
2 | g.130592985G>T | CA348502531 | CFC1 | c.564C>A (p.His188Gln) c.449C>A (p.Thr150Asn) c.339C>A (p.His113Gln) | |
2 | g.130592986T>A | CA348502536 | CFC1 | c.563A>T (p.His188Leu) c.448A>T (p.Thr150Ser) c.338A>T (p.His113Leu) | |
2 | g.130592986T>C | CA348502538 | CFC1 | c.563A>G (p.His188Arg) c.448A>G (p.Thr150Ala) c.338A>G (p.His113Arg) | |
2 | g.130592986T>G | CA348502541 | CFC1 | c.563A>C (p.His188Pro) c.448A>C (p.Thr150Pro) c.338A>C (p.His113Pro) | |
2 | g.130592987G>A | CA348502544 | CFC1 | c.562C>T (p.His188Tyr) c.447C>T (p.Cys149=) c.337C>T (p.His113Tyr) | |
2 | g.130592987G>C | CA348502546 | CFC1 | c.562C>G (p.His188Asp) c.447C>G (p.Cys149Trp) c.337C>G (p.His113Asp) | |
2 | g.130592987G>T | CA348502548 | CFC1 | c.562C>A (p.His188Asn) c.447C>A (p.Cys149Ter) c.337C>A (p.His113Asn) | |
2 | g.130592988C>A | CA348502555 | CFC1 | c.561G>T (p.Leu187=) c.446G>T (p.Cys149Phe) c.336G>T (p.Leu112=) | |
2 | g.130592988C>G | CA348502551 | CFC1 | c.561G>C (p.Leu187=) c.446G>C (p.Cys149Ser) c.336G>C (p.Leu112=) | |
2 | g.130592988C>T | CA348502553 | CFC1 | c.561G>A (p.Leu187=) c.446G>A (p.Cys149Tyr) c.336G>A (p.Leu112=) | |
2 | g.130592989A= | CA1288363494 | CFC1 | c.560T= (p.Leu187=) c.445T= (p.Cys149=) c.335T= (p.Leu112=) | |
2 | g.130592989A>C | CA348502559 | CFC1 | c.560T>G (p.Leu187Arg) c.445T>G (p.Cys149Gly) c.335T>G (p.Leu112Arg) | |
2 | g.130592989A>G | CA348502561 | CFC1 | c.560T>C (p.Leu187Pro) c.445T>C (p.Cys149Arg) c.335T>C (p.Leu112Pro) | dbSNP gnomAD v4 |
2 | g.130592989A>T | CA348502563 | CFC1 | c.560T>A (p.Leu187Gln) c.445T>A (p.Cys149Ser) c.335T>A (p.Leu112Gln) | |
2 | g.130592990G>A | CA428885267 | CFC1 | c.559C>T (p.Leu187=) c.444C>T (p.Ser148=) c.334C>T (p.Leu112=) | dbSNP |
2 | g.130592990G>C | CA348502566 | CFC1 | c.559C>G (p.Leu187Val) c.444C>G (p.Ser148=) c.334C>G (p.Leu112Val) | |
2 | g.130592990G= | CA1288363495 | CFC1 | c.559C= (p.Leu187=) c.444C= (p.Ser148=) c.334C= (p.Leu112=) | |
2 | g.130592990G>T | CA348502568 | CFC1 | c.559C>A (p.Leu187Met) c.444C>A (p.Ser148=) c.334C>A (p.Leu112Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592991G>A | CA348502576 | CFC1 | c.558C>T (p.Leu186=) c.443C>T (p.Ser148Phe) c.333C>T (p.Leu111=) | |
2 | g.130592991G>C | CA348502572 | CFC1 | c.558C>G (p.Leu186=) c.443C>G (p.Ser148Cys) c.333C>G (p.Leu111=) | |
2 | g.130592991G>T | CA348502574 | CFC1 | c.558C>A (p.Leu186=) c.443C>A (p.Ser148Tyr) c.333C>A (p.Leu111=) | |
2 | g.130592992A>C | CA348502579 | CFC1 | c.557T>G (p.Leu186Arg) c.442T>G (p.Ser148Ala) c.332T>G (p.Leu111Arg) | |
2 | g.130592992A>G | CA348502581 | CFC1 | c.557T>C (p.Leu186Pro) c.442T>C (p.Ser148Pro) c.332T>C (p.Leu111Pro) | |
2 | g.130592992A>T | CA348502583 | CFC1 | c.557T>A (p.Leu186His) c.442T>A (p.Ser148Thr) c.332T>A (p.Leu111His) | |
2 | g.130592993G>A | CA348502586 | CFC1 | c.556C>T (p.Leu186Phe) c.441C>T (p.His147=) c.331C>T (p.Leu111Phe) | |
2 | g.130592993G>C | CA348502588 | CFC1 | c.556C>G (p.Leu186Val) c.441C>G (p.His147Gln) c.331C>G (p.Leu111Val) | |
2 | g.130592993G>T | CA348502590 | CFC1 | c.556C>A (p.Leu186Ile) c.441C>A (p.His147Gln) c.331C>A (p.Leu111Ile) | |
2 | g.130592994T>A | CA348502594 | CFC1 | c.555A>T (p.Ala185=) c.440A>T (p.His147Leu) c.330A>T (p.Ala110=) | gnomAD v3 gnomAD v4 |
2 | g.130592994T>C | CA348502596 | CFC1 | c.555A>G (p.Ala185=) c.440A>G (p.His147Arg) c.330A>G (p.Ala110=) | gnomAD v4 |
2 | g.130592994T>G | CA348502598 | CFC1 | c.555A>C (p.Ala185=) c.440A>C (p.His147Pro) c.330A>C (p.Ala110=) | gnomAD v3 gnomAD v4 |
2 | g.130592995G>A | CA348502602 | CFC1 | c.554C>T (p.Ala185Val) c.439C>T (p.His147Tyr) c.329C>T (p.Ala110Val) | |
2 | g.130592995G>C | CA348502603 | CFC1 | c.554C>G (p.Ala185Gly) c.439C>G (p.His147Asp) c.329C>G (p.Ala110Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592995G= | CA1288363496 | CFC1 | c.554C= (p.Ala185=) c.439C= (p.His147=) c.329C= (p.Ala110=) | |
2 | g.130592995G>T | CA348502606 | CFC1 | c.554C>A (p.Ala185Glu) c.439C>A (p.His147Asn) c.329C>A (p.Ala110Glu) | |
2 | g.130592996C>A | CA348502608 | CFC1 | c.553G>T (p.Ala185Ser) c.438G>T (p.Ala146=) c.328G>T (p.Ala110Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592996C= | CA1288363497 | CFC1 | c.553G= (p.Ala185=) c.438G= (p.Ala146=) c.328G= (p.Ala110=) | |
2 | g.130592996C>G | CA348502612 | CFC1 | c.553G>C (p.Ala185Pro) c.438G>C (p.Ala146=) c.328G>C (p.Ala110Pro) | |
2 | g.130592996C>T | CA348502610 | CFC1 | c.553G>A (p.Ala185Thr) c.438G>A (p.Ala146=) c.328G>A (p.Ala110Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592996_130592997insA | CA1036409766 | CFC1 | c.552_553insT (p.Ala185CysfsTer?) c.437_438insT (p.His147AlafsTer?) c.327_328insT (p.Ala110CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592997G>A | CA348502614 | CFC1 | c.552C>T (p.Cys184=) c.437C>T (p.Ala146Val) c.327C>T (p.Cys109=) | dbSNP gnomAD v4 |
2 | g.130592997G>C | CA348502616 | CFC1 | c.552C>G (p.Cys184Trp) c.437C>G (p.Ala146Gly) c.327C>G (p.Cys109Trp) | |
2 | g.130592997G= | CA1288363498 | CFC1 | c.552C= (p.Cys184=) c.437C= (p.Ala146=) c.327C= (p.Cys109=) | |
2 | g.130592997G>T | CA348502618 | CFC1 | c.552C>A (p.Cys184Ter) c.437C>A (p.Ala146Glu) c.327C>A (p.Cys109Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592998C>A | CA348502620 | CFC1 | c.551G>T (p.Cys184Phe) c.436G>T (p.Ala146Ser) c.326G>T (p.Cys109Phe) | |
2 | g.130592998C>G | CA348502622 | CFC1 | c.551G>C (p.Cys184Ser) c.436G>C (p.Ala146Pro) c.326G>C (p.Cys109Ser) | |
2 | g.130592998C>T | CA348502624 | CFC1 | c.551G>A (p.Cys184Tyr) c.436G>A (p.Ala146Thr) c.326G>A (p.Cys109Tyr) | gnomAD v4 |
2 | g.130592998_130592999delinsCA | CA1288363499 | CFC1 | c.550_551delinsTG (p.Cys184=) c.435_436delinsTG (p.Pro145=) c.325_326delinsTG (p.Cys109=) | |
2 | g.130592999del | CA536070241 | CFC1 | c.550del (p.Cys184AlafsTer?) c.435del (p.Ala146ArgfsTer?) c.325del (p.Cys109AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592999A= | CA1288363500 | CFC1 | c.550T= (p.Cys184=) c.435T= (p.Pro145=) c.325T= (p.Cys109=) | |
2 | g.130592999A>C | CA348502627 | CFC1 | c.550T>G (p.Cys184Gly) c.435T>G (p.Pro145=) c.325T>G (p.Cys109Gly) | |
2 | g.130592999A>G | CA348502629 | CFC1 | c.550T>C (p.Cys184Arg) c.435T>C (p.Pro145=) c.325T>C (p.Cys109Arg) | dbSNP gnomAD v4 |
2 | g.130592999A>T | CA348502630 | CFC1 | c.550T>A (p.Cys184Ser) c.435T>A (p.Pro145=) c.325T>A (p.Cys109Ser) | |
2 | g.130593001_130593011dup | CA2661125020 | CFC1 | c.540_550dup (p.Cys184SerfsTer?) c.425_435dup (p.Ala146LeufsTer?) c.315_325dup (p.Cys109SerfsTer?) | gnomAD v4 |
2 | g.130593000G>A | CA348502633 | CFC1 | c.549C>T (p.Pro183=) c.434C>T (p.Pro145Leu) c.324C>T (p.Pro108=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593000G>C | CA348502635 | CFC1 | c.549C>G (p.Pro183=) c.434C>G (p.Pro145Arg) c.324C>G (p.Pro108=) | |
2 | g.130593000G= | CA1288363501 | CFC1 | c.549C= (p.Pro183=) c.434C= (p.Pro145=) c.324C= (p.Pro108=) | |
2 | g.130593000G>T | CA348502637 | CFC1 | c.549C>A (p.Pro183=) c.434C>A (p.Pro145His) c.324C>A (p.Pro108=) | |
2 | g.130593002del | CA2604643544 | CFC1 | c.549del (p.Cys184AlafsTer?) c.434del (p.Pro145LeufsTer?) c.324del (p.Cys109AlafsTer?) | gnomAD v3 gnomAD v4 |
2 | g.130593001G>A | CA348502643 | CFC1 | c.548C>T (p.Pro183Leu) c.433C>T (p.Pro145Ser) c.323C>T (p.Pro108Leu) | gnomAD v4 |
2 | g.130593001G>C | CA348502639 | CFC1 | c.548C>G (p.Pro183Arg) c.433C>G (p.Pro145Ala) c.323C>G (p.Pro108Arg) | |
2 | g.130593001G>T | CA348502641 | CFC1 | c.548C>A (p.Pro183His) c.433C>A (p.Pro145Thr) c.323C>A (p.Pro108His) | |
2 | g.130593002G>A | CA348502645 | CFC1 | c.547C>T (p.Pro183Ser) c.432C>T (p.Cys144=) c.322C>T (p.Pro108Ser) | gnomAD v4 |
2 | g.130593002G>C | CA348502647 | CFC1 | c.547C>G (p.Pro183Ala) c.432C>G (p.Cys144Trp) c.322C>G (p.Pro108Ala) | |
2 | g.130593002G>T | CA348502649 | CFC1 | c.547C>A (p.Pro183Thr) c.432C>A (p.Cys144Ter) c.322C>A (p.Pro108Thr) | |
2 | g.130593003C>A | CA348502651 | CFC1 | c.546G>T (p.Leu182=) c.431G>T (p.Cys144Phe) c.321G>T (p.Leu107=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593003C= | CA1288363502 | CFC1 | c.546G= (p.Leu182=) c.431G= (p.Cys144=) c.321G= (p.Leu107=) | |
2 | g.130593003C>G | CA348502653 | CFC1 | c.546G>C (p.Leu182=) c.431G>C (p.Cys144Ser) c.321G>C (p.Leu107=) | |
2 | g.130593003C>T | CA348502655 | CFC1 | c.546G>A (p.Leu182=) c.431G>A (p.Cys144Tyr) c.321G>A (p.Leu107=) | |
2 | g.130593004A>C | CA348502657 | CFC1 | c.545T>G (p.Leu182Arg) c.430T>G (p.Cys144Gly) c.320T>G (p.Leu107Arg) | |
2 | g.130593004A>G | CA348502659 | CFC1 | c.545T>C (p.Leu182Pro) c.430T>C (p.Cys144Arg) c.320T>C (p.Leu107Pro) | |
2 | g.130593004A>T | CA348502661 | CFC1 | c.545T>A (p.Leu182Gln) c.430T>A (p.Cys144Ser) c.320T>A (p.Leu107Gln) | |
2 | g.130593005G>A | CA428885282 | CFC1 | c.544C>T (p.Leu182=) c.429C>T (p.Cys143=) c.319C>T (p.Leu107=) | |
2 | g.130593005G>C | CA348502663 | CFC1 | c.544C>G (p.Leu182Val) c.429C>G (p.Cys143Trp) c.319C>G (p.Leu107Val) | |
2 | g.130593005G>T | CA348502665 | CFC1 | c.544C>A (p.Leu182Met) c.429C>A (p.Cys143Ter) c.319C>A (p.Leu107Met) | |
2 | g.130593006C>A | CA348502671 | CFC1 | c.543G>T (p.Leu181Phe) c.428G>T (p.Cys143Phe) c.318G>T (p.Leu106Phe) | |
2 | g.130593006C= | CA1288363503 | CFC1 | c.543G= (p.Leu181=) c.428G= (p.Cys143=) c.318G= (p.Leu106=) | |
2 | g.130593006C>G | CA348502669 | CFC1 | c.543G>C (p.Leu181Phe) c.428G>C (p.Cys143Ser) c.318G>C (p.Leu106Phe) | |
2 | g.130593006C>T | CA348502667 | CFC1 | c.543G>A (p.Leu181=) c.428G>A (p.Cys143Tyr) c.318G>A (p.Leu106=) | dbSNP gnomAD v4 |
2 | g.130593007A>C | CA348502675 | CFC1 | c.542T>G (p.Leu181Trp) c.427T>G (p.Cys143Gly) c.317T>G (p.Leu106Trp) | |
2 | g.130593007A>G | CA348502673 | CFC1 | c.542T>C (p.Leu181Ser) c.427T>C (p.Cys143Arg) c.317T>C (p.Leu106Ser) | |
2 | g.130593007A>T | CA348502677 | CFC1 | c.542T>A (p.Leu181Ter) c.427T>A (p.Cys143Ser) c.317T>A (p.Leu106Ter) | |
2 | g.130593008A>C | CA348502679 | CFC1 | c.541T>G (p.Leu181Val) c.426T>G (p.Ser142=) c.316T>G (p.Leu106Val) | |
2 | g.130593008A>G | CA428885290 | CFC1 | c.541T>C (p.Leu181=) c.426T>C (p.Ser142=) c.316T>C (p.Leu106=) | gnomAD v4 |
2 | g.130593008A>T | CA348502681 | CFC1 | c.541T>A (p.Leu181Met) c.426T>A (p.Ser142=) c.316T>A (p.Leu106Met) | |
2 | g.130593009G>A | CA348502683 | CFC1 | c.540C>T (p.Leu180=) c.425C>T (p.Ser142Phe) c.315C>T (p.Leu105=) | |
2 | g.130593009G>C | CA348502684 | CFC1 | c.540C>G (p.Leu180=) c.425C>G (p.Ser142Cys) c.315C>G (p.Leu105=) | |
2 | g.130593009G>T | CA348502686 | CFC1 | c.540C>A (p.Leu180=) c.425C>A (p.Ser142Tyr) c.315C>A (p.Leu105=) | |
2 | g.130593010A= | CA1288363504 | CFC1 | c.539T= (p.Leu180=) c.424T= (p.Ser142=) c.314T= (p.Leu105=) | |
2 | g.130593010A>C | CA348502693 | CFC1 | c.539T>G (p.Leu180Arg) c.424T>G (p.Ser142Ala) c.314T>G (p.Leu105Arg) | dbSNP gnomAD v4 |
2 | g.130593010A>G | CA348502690 | CFC1 | c.539T>C (p.Leu180Pro) c.424T>C (p.Ser142Pro) c.314T>C (p.Leu105Pro) | |
2 | g.130593010A>T | CA348502689 | CFC1 | c.539T>A (p.Leu180His) c.424T>A (p.Ser142Thr) c.314T>A (p.Leu105His) | gnomAD v4 |
2 | g.130593011G>A | CA348502695 | CFC1 | c.538C>T (p.Leu180Phe) c.423C>T (p.Tyr141=) c.313C>T (p.Leu105Phe) | gnomAD v4 |
2 | g.130593011G>C | CA348502696 | CFC1 | c.538C>G (p.Leu180Val) c.423C>G (p.Tyr141Ter) c.313C>G (p.Leu105Val) | gnomAD v4 |
2 | g.130593011G>T | CA348502698 | CFC1 | c.538C>A (p.Leu180Ile) c.423C>A (p.Tyr141Ter) c.313C>A (p.Leu105Ile) | |
2 | g.130593012T>A | CA348502700 | CFC1 | c.537A>T (p.Leu179=) c.422A>T (p.Tyr141Phe) c.312A>T (p.Leu104=) | |
2 | g.130593012T>C | CA348502702 | CFC1 | c.537A>G (p.Leu179=) c.422A>G (p.Tyr141Cys) c.312A>G (p.Leu104=) | |
2 | g.130593012T>G | CA348502704 | CFC1 | c.537A>C (p.Leu179=) c.422A>C (p.Tyr141Ser) c.312A>C (p.Leu104=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593012T= | CA1288363505 | CFC1 | c.537A= (p.Leu179=) c.422A= (p.Tyr141=) c.312A= (p.Leu104=) | |
2 | g.130593013A>C | CA348502706 | CFC1 | c.536T>G (p.Leu179Arg) c.421T>G (p.Tyr141Asp) c.311T>G (p.Leu104Arg) | |
2 | g.130593013A>G | CA348502710 | CFC1 | c.536T>C (p.Leu179Pro) c.421T>C (p.Tyr141His) c.311T>C (p.Leu104Pro) | |
2 | g.130593013A>T | CA348502707 | CFC1 | c.536T>A (p.Leu179Gln) c.421T>A (p.Tyr141Asn) c.311T>A (p.Leu104Gln) | |
2 | g.130593014G>A | CA428885303 | CFC1 | c.535C>T (p.Leu179=) c.420C>T (p.Cys140=) c.310C>T (p.Leu104=) | |
2 | g.130593014G>C | CA348502712 | CFC1 | c.535C>G (p.Leu179Val) c.420C>G (p.Cys140Trp) c.310C>G (p.Leu104Val) | |
2 | g.130593014G>T | CA348502714 | CFC1 | c.535C>A (p.Leu179Ile) c.420C>A (p.Cys140Ter) c.310C>A (p.Leu104Ile) | |
2 | g.130593015C>A | CA348502716 | CFC1 | c.534G>T (p.Leu178=) c.419G>T (p.Cys140Phe) c.309G>T (p.Leu103=) | |
2 | g.130593015C= | CA1288363506 | CFC1 | c.534G= (p.Leu178=) c.419G= (p.Cys140=) c.309G= (p.Leu103=) | |
2 | g.130593015C>G | CA348502718 | CFC1 | c.534G>C (p.Leu178=) c.419G>C (p.Cys140Ser) c.309G>C (p.Leu103=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593015C>T | CA348502720 | CFC1 | c.534G>A (p.Leu178=) c.419G>A (p.Cys140Tyr) c.309G>A (p.Leu103=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593016A>C | CA348502721 | CFC1 | c.533T>G (p.Leu178Arg) c.418T>G (p.Cys140Gly) c.308T>G (p.Leu103Arg) | gnomAD v4 |
2 | g.130593016A>G | CA348502722 | CFC1 | c.533T>C (p.Leu178Pro) c.418T>C (p.Cys140Arg) c.308T>C (p.Leu103Pro) | gnomAD v4 |
2 | g.130593016A>T | CA348502723 | CFC1 | c.533T>A (p.Leu178Gln) c.418T>A (p.Cys140Ser) c.308T>A (p.Leu103Gln) | gnomAD v4 |
2 | g.130593017G>A | CA428885308 | CFC1 | c.532C>T (p.Leu178=) c.417C>T (p.Ala139=) c.307C>T (p.Leu103=) | |
2 | g.130593017G>C | CA348502725 | CFC1 | c.532C>G (p.Leu178Val) c.417C>G (p.Ala139=) c.307C>G (p.Leu103Val) | |
2 | g.130593017G>T | CA348502727 | CFC1 | c.532C>A (p.Leu178Met) c.417C>A (p.Ala139=) c.307C>A (p.Leu103Met) | |
2 | g.130593018G>A | CA348502735 | CFC1 | c.531C>T (p.Ser177=) c.416C>T (p.Ala139Val) c.306C>T (p.Ser102=) | |
2 | g.130593018G>C | CA348502733 | CFC1 | c.531C>G (p.Ser177Arg) c.416C>G (p.Ala139Gly) c.306C>G (p.Ser102Arg) | |
2 | g.130593018G>T | CA348502730 | CFC1 | c.531C>A (p.Ser177Arg) c.416C>A (p.Ala139Asp) c.306C>A (p.Ser102Arg) | |
2 | g.130593019C>A | CA348502738 | CFC1 | c.530G>T (p.Ser177Ile) c.415G>T (p.Ala139Ser) c.305G>T (p.Ser102Ile) | |
2 | g.130593019C>G | CA348502740 | CFC1 | c.530G>C (p.Ser177Thr) c.415G>C (p.Ala139Pro) c.305G>C (p.Ser102Thr) | gnomAD v3 gnomAD v4 |
2 | g.130593019C>T | CA348502742 | CFC1 | c.530G>A (p.Ser177Asn) c.415G>A (p.Ala139Thr) c.305G>A (p.Ser102Asn) | gnomAD v4 |
2 | g.130593020T>A | CA348502745 | CFC1 | c.529A>T (p.Ser177Cys) c.414A>T (p.Pro138=) c.304A>T (p.Ser102Cys) | |
2 | g.130593020T>C | CA348502747 | CFC1 | c.529A>G (p.Ser177Gly) c.414A>G (p.Pro138=) c.304A>G (p.Ser102Gly) | gnomAD v4 |
2 | g.130593020T>G | CA348502749 | CFC1 | c.529A>C (p.Ser177Arg) c.414A>C (p.Pro138=) c.304A>C (p.Ser102Arg) | |
2 | g.130593021G>A | CA348502751 | CFC1 | c.528C>T (p.Pro176=) c.413C>T (p.Pro138Leu) c.303C>T (p.Pro101=) | gnomAD v4 |
2 | g.130593021G>C | CA348502753 | CFC1 | c.528C>G (p.Pro176=) c.413C>G (p.Pro138Arg) c.303C>G (p.Pro101=) | |
2 | g.130593021G>T | CA348502755 | CFC1 | c.528C>A (p.Pro176=) c.413C>A (p.Pro138Gln) c.303C>A (p.Pro101=) | |
2 | g.130593022G>A | CA348502758 | CFC1 | c.527C>T (p.Pro176Leu) c.412C>T (p.Pro138Ser) c.302C>T (p.Pro101Leu) | |
2 | g.130593022G>C | CA348502760 | CFC1 | c.527C>G (p.Pro176Arg) c.412C>G (p.Pro138Ala) c.302C>G (p.Pro101Arg) | |
2 | g.130593022G>T | CA348502762 | CFC1 | c.527C>A (p.Pro176His) c.412C>A (p.Pro138Thr) c.302C>A (p.Pro101His) | |
2 | g.130593022_130593024delinsGGC | CA1288363507 | CFC1 | c.525_527delinsGCC (p.Ala175=) c.410_412delinsGCC (p.Arg137=) c.300_302delinsGCC (p.Ala100=) | |
2 | g.130593023G>A | CA348502767 | CFC1 | c.526C>T (p.Pro176Ser) c.411C>T (p.Arg137=) c.301C>T (p.Pro101Ser) | |
2 | g.130593023G>C | CA348502766 | CFC1 | c.526C>G (p.Pro176Ala) c.411C>G (p.Arg137=) c.301C>G (p.Pro101Ala) | gnomAD v4 |
2 | g.130593023G>T | CA348502765 | CFC1 | c.526C>A (p.Pro176Thr) c.411C>A (p.Arg137=) c.301C>A (p.Pro101Thr) | |
2 | g.130593027_130593028del | CA536070245 | CFC1 | c.525_526del (p.Pro176GlnfsTer?) c.410_411del (p.Arg137ProfsTer?) c.300_301del (p.Pro101GlnfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593024C>A | CA348502768 | CFC1 | c.525G>T (p.Ala175=) c.410G>T (p.Arg137Leu) c.300G>T (p.Ala100=) | gnomAD v4 |
2 | g.130593024C= | CA1288363508 | CFC1 | c.525G= (p.Ala175=) c.410G= (p.Arg137=) c.300G= (p.Ala100=) | |
2 | g.130593024C>G | CA348502769 | CFC1 | c.525G>C (p.Ala175=) c.410G>C (p.Arg137Pro) c.300G>C (p.Ala100=) | gnomAD v4 |
2 | g.130593024C>T | CA348502770 | CFC1 | c.525G>A (p.Ala175=) c.410G>A (p.Arg137His) c.300G>A (p.Ala100=) | dbSNP gnomAD v4 |
2 | g.130593025G>A | CA348502771 | CFC1 | c.524C>T (p.Ala175Val) c.409C>T (p.Arg137Cys) c.299C>T (p.Ala100Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593025G>C | CA348502772 | CFC1 | c.524C>G (p.Ala175Gly) c.409C>G (p.Arg137Gly) c.299C>G (p.Ala100Gly) | |
2 | g.130593025G= | CA1288363509 | CFC1 | c.524C= (p.Ala175=) c.409C= (p.Arg137=) c.299C= (p.Ala100=) | |
2 | g.130593025G>T | CA348502773 | CFC1 | c.524C>A (p.Ala175Glu) c.409C>A (p.Arg137Ser) c.299C>A (p.Ala100Glu) | |
2 | g.130593026C>A | CA348502774 | CFC1 | c.523G>T (p.Ala175Ser) c.408G>T (p.Ala136=) c.298G>T (p.Ala100Ser) | |
2 | g.130593026C= | CA1288363511 | CFC1 | c.523G= (p.Ala175=) c.408G= (p.Ala136=) c.298G= (p.Ala100=) | |
2 | g.130593026C>G | CA348502775 | CFC1 | c.523G>C (p.Ala175Pro) c.408G>C (p.Ala136=) c.298G>C (p.Ala100Pro) | |
2 | g.130593026C>T | CA348502776 | CFC1 | c.523G>A (p.Ala175Thr) c.408G>A (p.Ala136=) c.298G>A (p.Ala100Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593026dup | CA536070250 | CFC1 | c.523dup (p.Ala175GlyfsTer?) c.408dup (p.Arg137AlafsTer?) c.298dup (p.Ala100GlyfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593026_130593027delinsCG | CA1288363510 | CFC1 | c.522_523delinsCG (p.Gly174=) c.407_408delinsCG (p.Ala136=) c.297_298delinsCG (p.Gly99=) | |
2 | g.130593027del | CA281556 | CFC1 | c.522del (p.Ala175ArgfsTer?) c.407del (p.Ala136GlyfsTer?) c.297del (p.Ala100ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593027G>A | CA348502777 | CFC1 | c.522C>T (p.Gly174=) c.407C>T (p.Ala136Val) c.297C>T (p.Gly99=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593027G>C | CA348502778 | CFC1 | c.522C>G (p.Gly174=) c.407C>G (p.Ala136Gly) c.297C>G (p.Gly99=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593027G= | CA1288363512 | CFC1 | c.522C= (p.Gly174=) c.407C= (p.Ala136=) c.297C= (p.Gly99=) | |
2 | g.130593027G>T | CA348502779 | CFC1 | c.522C>A (p.Gly174=) c.407C>A (p.Ala136Glu) c.297C>A (p.Gly99=) | |
2 | g.130593027_130593028delinsGC | CA1288363513 | CFC1 | c.521_522delinsGC (p.Gly174=) c.406_407delinsGC (p.Ala136=) c.296_297delinsGC (p.Gly99=) | |
2 | g.130593028C>A | CA348502781 | CFC1 | c.521G>T (p.Gly174Val) c.406G>T (p.Ala136Ser) c.296G>T (p.Gly99Val) | |
2 | g.130593028C>G | CA348502782 | CFC1 | c.521G>C (p.Gly174Ala) c.406G>C (p.Ala136Pro) c.296G>C (p.Gly99Ala) | |
2 | g.130593028C>T | CA348502780 | CFC1 | c.521G>A (p.Gly174Asp) c.406G>A (p.Ala136Thr) c.296G>A (p.Gly99Asp) | |
2 | g.130593032dup | CA1288363514 | CFC1 | c.521dup (p.Ala175ArgfsTer?) c.406dup (p.Ala136GlyfsTer?) c.296dup (p.Ala100ArgfsTer?) | dbSNP gnomAD v4 |
2 | g.130593032del | CA756946352 | CFC1 | c.521del (p.Gly174AlafsTer?) c.406del (p.Ala136ArgfsTer?) c.296del (p.Gly99AlafsTer?) | dbSNP gnomAD v4 |
2 | g.130593029C>A | CA348502783 | CFC1 | c.520G>T (p.Gly174Cys) c.405G>T (p.Gly135=) c.295G>T (p.Gly99Cys) | |
2 | g.130593029C>G | CA348502785 | CFC1 | c.520G>C (p.Gly174Arg) c.405G>C (p.Gly135=) c.295G>C (p.Gly99Arg) | |
2 | g.130593029C>T | CA348502784 | CFC1 | c.520G>A (p.Gly174Ser) c.405G>A (p.Gly135=) c.295G>A (p.Gly99Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593030C>A | CA348502786 | CFC1 | c.519G>T (p.Gly173=) c.404G>T (p.Gly135Val) c.294G>T (p.Gly98=) | |
2 | g.130593030C= | CA1288363515 | CFC1 | c.519G= (p.Gly173=) c.404G= (p.Gly135=) c.294G= (p.Gly98=) | |
2 | g.130593030C>G | CA348502788 | CFC1 | c.519G>C (p.Gly173=) c.404G>C (p.Gly135Ala) c.294G>C (p.Gly98=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593030C>T | CA348502787 | CFC1 | c.519G>A (p.Gly173=) c.404G>A (p.Gly135Glu) c.294G>A (p.Gly98=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593031C>A | CA348502789 | CFC1 | c.518G>T (p.Gly173Val) c.403G>T (p.Gly135Trp) c.293G>T (p.Gly98Val) | |
2 | g.130593031C= | CA1288363516 | CFC1 | c.518G= (p.Gly173=) c.403G= (p.Gly135=) c.293G= (p.Gly98=) | |
2 | g.130593031C>G | CA348502790 | CFC1 | c.518G>C (p.Gly173Ala) c.403G>C (p.Gly135Arg) c.293G>C (p.Gly98Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593031C>T | CA348502791 | CFC1 | c.518G>A (p.Gly173Glu) c.403G>A (p.Gly135Arg) c.293G>A (p.Gly98Glu) | |
2 | g.130593032C>A | CA348502792 | CFC1 | c.517G>T (p.Gly173Trp) c.402G>T (p.Pro134=) c.292G>T (p.Gly98Trp) | |
2 | g.130593032C= | CA1288363517 | CFC1 | c.517G= (p.Gly173=) c.402G= (p.Pro134=) c.292G= (p.Gly98=) | |
2 | g.130593032C>G | CA348502793 | CFC1 | c.517G>C (p.Gly173Arg) c.402G>C (p.Pro134=) c.292G>C (p.Gly98Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593032C>T | CA348502794 | CFC1 | c.517G>A (p.Gly173Arg) c.402G>A (p.Pro134=) c.292G>A (p.Gly98Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593032_130593034delinsCGG | CA1288363518 | CFC1 | c.515_517delinsCCG (p.Ala172=) c.400_402delinsCCG (p.Pro134=) c.290_292delinsCCG (p.Ala97=) | |
2 | g.130593033G>A | CA348502797 | CFC1 | c.516C>T (p.Ala172=) c.401C>T (p.Pro134Leu) c.291C>T (p.Ala97=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593033G>C | CA348502799 | CFC1 | c.516C>G (p.Ala172=) c.401C>G (p.Pro134Arg) c.291C>G (p.Ala97=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593033G= | CA1288363520 | CFC1 | c.516C= (p.Ala172=) c.401C= (p.Pro134=) c.291C= (p.Ala97=) | |
2 | g.130593033G>T | CA348502801 | CFC1 | c.516C>A (p.Ala172=) c.401C>A (p.Pro134Gln) c.291C>A (p.Ala97=) | dbSNP |
2 | g.130593033_130593034del | CA1288363519 | CFC1 | c.515_516del (p.Ala172GlyfsTer?) c.400_401del (p.Pro134GlyfsTer?) c.290_291del (p.Ala97GlyfsTer?) | dbSNP |
2 | g.130593034G>A | CA348502804 | CFC1 | c.515C>T (p.Ala172Val) c.400C>T (p.Pro134Ser) c.290C>T (p.Ala97Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593034G>C | CA348502807 | CFC1 | c.515C>G (p.Ala172Gly) c.400C>G (p.Pro134Ala) c.290C>G (p.Ala97Gly) | gnomAD v4 |
2 | g.130593034G= | CA1288363521 | CFC1 | c.515C= (p.Ala172=) c.400C= (p.Pro134=) c.290C= (p.Ala97=) | |
2 | g.130593034G>T | CA348502810 | CFC1 | c.515C>A (p.Ala172Asp) c.400C>A (p.Pro134Thr) c.290C>A (p.Ala97Asp) | |
2 | g.130593035C>A | CA348502812 | CFC1 | c.514G>T (p.Ala172Ser) c.399G>T (p.Ala133=) c.289G>T (p.Ala97Ser) | gnomAD v4 |
2 | g.130593035C= | CA1288363522 | CFC1 | c.514G= (p.Ala172=) c.399G= (p.Ala133=) c.289G= (p.Ala97=) | |
2 | g.130593035C>G | CA348502814 | CFC1 | c.514G>C (p.Ala172Pro) c.399G>C (p.Ala133=) c.289G>C (p.Ala97Pro) | |
2 | g.130593035C>T | CA348502813 | CFC1 | c.514G>A (p.Ala172Thr) c.399G>A (p.Ala133=) c.289G>A (p.Ala97Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593035_130593048delinsCGCTCGGCCCGTGA | CA1288363523 | CFC1 | c.501_514delinsTCACGGGCCGAGCG (p.Ala167=) c.386_399delinsTCACGGGCCGAGCG (p.Leu129=) c.276_289delinsTCACGGGCCGAGCG (p.Ala92=) | |
2 | g.130593036G>A | CA348502816 | CFC1 | c.513C>T (p.Ser171=) c.398C>T (p.Ala133Val) c.288C>T (p.Ser96=) | gnomAD v4 |
2 | g.130593036G>C | CA348502818 | CFC1 | c.513C>G (p.Ser171Arg) c.398C>G (p.Ala133Gly) c.288C>G (p.Ser96Arg) | |
2 | g.130593036G>T | CA348502821 | CFC1 | c.513C>A (p.Ser171Arg) c.398C>A (p.Ala133Glu) c.288C>A (p.Ser96Arg) | gnomAD v4 |
2 | g.130593038_130593050del | CA756946380 | CFC1 | c.501_513del (p.His168ProfsTer?) c.386_398del (p.Leu129ArgfsTer?) c.276_288del (p.His93ProfsTer?) | dbSNP |
2 | g.130593037C>A | CA348502823 | CFC1 | c.512G>T (p.Ser171Ile) c.397G>T (p.Ala133Ser) c.287G>T (p.Ser96Ile) | dbSNP |
2 | g.130593037C= | CA1288363524 | CFC1 | c.512G= (p.Ser171=) c.397G= (p.Ala133=) c.287G= (p.Ser96=) | |
2 | g.130593037C>G | CA348502825 | CFC1 | c.512G>C (p.Ser171Thr) c.397G>C (p.Ala133Pro) c.287G>C (p.Ser96Thr) | |
2 | g.130593037C>T | CA348502827 | CFC1 | c.512G>A (p.Ser171Asn) c.397G>A (p.Ala133Thr) c.287G>A (p.Ser96Asn) | gnomAD v4 |
2 | g.130593038T>A | CA348502830 | CFC1 | c.511A>T (p.Ser171Cys) c.396A>T (p.Arg132=) c.286A>T (p.Ser96Cys) | |
2 | g.130593038T>C | CA348502832 | CFC1 | c.511A>G (p.Ser171Gly) c.396A>G (p.Arg132=) c.286A>G (p.Ser96Gly) | gnomAD v4 |
2 | g.130593038T>G | CA348502835 | CFC1 | c.511A>C (p.Ser171Arg) c.396A>C (p.Arg132=) c.286A>C (p.Ser96Arg) | |
2 | g.130593038T= | CA1288363525 | CFC1 | c.511A= (p.Ser171=) c.396A= (p.Arg132=) c.286A= (p.Ser96=) | |
2 | g.130593039C>A | CA348502840 | CFC1 | c.510G>T (p.Pro170=) c.395G>T (p.Arg132Leu) c.285G>T (p.Pro95=) | |
2 | g.130593039C= | CA1288363526 | CFC1 | c.510G= (p.Pro170=) c.395G= (p.Arg132=) c.285G= (p.Pro95=) | |
2 | g.130593039C>G | CA348502842 | CFC1 | c.510G>C (p.Pro170=) c.395G>C (p.Arg132Pro) c.285G>C (p.Pro95=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593039C>T | CA348502837 | CFC1 | c.510G>A (p.Pro170=) c.395G>A (p.Arg132Gln) c.285G>A (p.Pro95=) | dbSNP gnomAD v4 |
2 | g.130593040_130593043dup | CA536070255 | CFC1 | c.507_510dup (p.Ser171AlafsTer?) c.392_395dup (p.Ala133ProfsTer?) c.282_285dup (p.Ser96AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130593039_130593040insA | CA536070256 | CFC1 | c.509_510insT (p.Ser171GlufsTer?) c.394_395insT (p.Arg132LeufsTer?) c.284_285insT (p.Ser96GlufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593040G>A | CA348502845 | CFC1 | c.509C>T (p.Pro170Leu) c.394C>T (p.Arg132Ter) c.284C>T (p.Pro95Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130593040G>C | CA348502847 | CFC1 | c.509C>G (p.Pro170Arg) c.394C>G (p.Arg132Gly) c.284C>G (p.Pro95Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593040G= | CA1288363527 | CFC1 | c.509C= (p.Pro170=) c.394C= (p.Arg132=) c.284C= (p.Pro95=) | |
2 | g.130593040G>T | CA348502848 | CFC1 | c.509C>A (p.Pro170Gln) c.394C>A (p.Arg132=) c.284C>A (p.Pro95Gln) | |
2 | g.130593041G>A | CA348502849 | CFC1 | c.508C>T (p.Pro170Ser) c.393C>T (p.Gly131=) c.283C>T (p.Pro95Ser) | |
2 | g.130593041G>C | CA348502850 | CFC1 | c.508C>G (p.Pro170Ala) c.393C>G (p.Gly131=) c.283C>G (p.Pro95Ala) | |
2 | g.130593041G= | CA1288363528 | CFC1 | c.508C= (p.Pro170=) c.393C= (p.Gly131=) c.283C= (p.Pro95=) | |
2 | g.130593041G>T | CA348502852 | CFC1 | c.508C>A (p.Pro170Thr) c.393C>A (p.Gly131=) c.283C>A (p.Pro95Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130593041_130593042delinsGC | CA1288363529 | CFC1 | c.507_508delinsGC (p.Gly169=) c.392_393delinsGC (p.Gly131=) c.282_283delinsGC (p.Gly94=) | |
2 | g.130593042C>A | CA348502854 | CFC1 | c.507G>T (p.Gly169=) c.392G>T (p.Gly131Val) c.282G>T (p.Gly94=) | |
2 | g.130593042C>G | CA348502857 | CFC1 | c.507G>C (p.Gly169=) c.392G>C (p.Gly131Ala) c.282G>C (p.Gly94=) | |
2 | g.130593042C>T | CA348502858 | CFC1 | c.507G>A (p.Gly169=) c.392G>A (p.Gly131Asp) c.282G>A (p.Gly94=) | |
2 | g.130593044del | CA536070257 | CFC1 | c.507del (p.Pro170ArgfsTer?) c.392del (p.Gly131AlafsTer?) c.282del (p.Pro95ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130593043C>A | CA348502859 | CFC1 | c.506G>T (p.Gly169Val) c.391G>T (p.Gly131Cys) c.281G>T (p.Gly94Val) | |
2 | g.130593043C>G | CA348502861 | CFC1 | c.506G>C (p.Gly169Ala) c.391G>C (p.Gly131Arg) c.281G>C (p.Gly94Ala) | |
2 | g.130593043C>T | CA348502863 | CFC1 | c.506G>A (p.Gly169Glu) c.391G>A (p.Gly131Ser) c.281G>A (p.Gly94Glu) | |
2 | g.130593044C>A | CA348502871 | CFC1 | c.505G>T (p.Gly169Trp) c.390G>T (p.Thr130=) c.280G>T (p.Gly94Trp) | gnomAD v4 |
2 | g.130593044C= | CA1288363530 | CFC1 | c.505G= (p.Gly169=) c.390G= (p.Thr130=) c.280G= (p.Gly94=) | |
2 | g.130593044C>G | CA348502866 | CFC1 | c.505G>C (p.Gly169Arg) c.390G>C (p.Thr130=) c.280G>C (p.Gly94Arg) | dbSNP gnomAD v4 |
2 | g.130593044C>T | CA348502869 | CFC1 | c.505G>A (p.Gly169Arg) c.390G>A (p.Thr130=) c.280G>A (p.Gly94Arg) | dbSNP gnomAD v4 |