| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.35455802_35456508delinsGGACTCCCAGGGAG | CA2573140312 | FANCE | c.304_855+155delinsGGACTCCCAGGGAG c.22_573+155delinsGGACTCCCAGGGAG c.10_561+155delinsGGACTCCCAGGGAG n.511_1062+155delinsGGACTCCCAGGGAG | ClinVar dbSNP |
| 6 | g.35456077_35456093del | CA2678405706 | FANCE | c.579_595del (p.Asp193GlufsTer14) c.297_313del (p.Asp99GlufsTer14) n.219_235del c.285_301del (p.Asp95GlufsTer14) n.786_802del | gnomAD v4 |
| 6 | g.35456085A>C | CA363773224 | FANCE | c.587A>C (p.Gln196Pro) c.305A>C (p.Gln102Pro) n.227A>C c.293A>C (p.Gln98Pro) n.794A>C | gnomAD v4 |
| 6 | g.35456085A>G | CA363773225 | FANCE | c.587A>G (p.Gln196Arg) c.305A>G (p.Gln102Arg) n.227A>G c.293A>G (p.Gln98Arg) n.794A>G | |
| 6 | g.35456085A>T | CA363773226 | FANCE | c.587A>T (p.Gln196Leu) c.305A>T (p.Gln102Leu) n.227A>T c.293A>T (p.Gln98Leu) n.794A>T | |
| 6 | g.35456086G>A | CA450123783 | FANCE | c.588G>A (p.Gln196=) c.306G>A (p.Gln102=) n.228G>A c.294G>A (p.Gln98=) n.795G>A | |
| 6 | g.35456086G>C | CA363773227 | FANCE | c.588G>C (p.Gln196His) c.306G>C (p.Gln102His) n.228G>C c.294G>C (p.Gln98His) n.795G>C | |
| 6 | g.35456086G>T | CA363773228 | FANCE | c.588G>T (p.Gln196His) c.306G>T (p.Gln102His) n.228G>T c.294G>T (p.Gln98His) n.795G>T | COSMIC |
| 6 | g.35456087C>A | CA363773230 | FANCE | c.589C>A (p.Pro197Thr) c.307C>A (p.Pro103Thr) n.229C>A c.295C>A (p.Pro99Thr) n.796C>A | |
| 6 | g.35456087C>G | CA363773231 | FANCE | c.589C>G (p.Pro197Ala) c.307C>G (p.Pro103Ala) n.229C>G c.295C>G (p.Pro99Ala) n.796C>G | |
| 6 | g.35456087C>T | CA363773229 | FANCE | c.589C>T (p.Pro197Ser) c.307C>T (p.Pro103Ser) n.229C>T c.295C>T (p.Pro99Ser) n.796C>T | gnomAD v4 |
| 6 | g.35456088C>A | CA363773232 | FANCE | c.590C>A (p.Pro197His) c.308C>A (p.Pro103His) n.230C>A c.296C>A (p.Pro99His) n.797C>A | |
| 6 | g.35456088C>G | CA363773233 | FANCE | c.590C>G (p.Pro197Arg) c.308C>G (p.Pro103Arg) n.230C>G c.296C>G (p.Pro99Arg) n.797C>G | |
| 6 | g.35456088C>T | CA363773234 | FANCE | c.590C>T (p.Pro197Leu) c.308C>T (p.Pro103Leu) n.230C>T c.296C>T (p.Pro99Leu) n.797C>T | ClinVar dbSNP |
| 6 | g.35456089T>A | CA450123785 | FANCE | c.591T>A (p.Pro197=) c.309T>A (p.Pro103=) n.231T>A c.297T>A (p.Pro99=) n.798T>A | |
| 6 | g.35456089T>C | CA450123787 | FANCE | c.591T>C (p.Pro197=) c.309T>C (p.Pro103=) n.231T>C c.297T>C (p.Pro99=) n.798T>C | dbSNP |
| 6 | g.35456089T>G | CA450123786 | FANCE | c.591T>G (p.Pro197=) c.309T>G (p.Pro103=) n.231T>G c.297T>G (p.Pro99=) n.798T>G | |
| 6 | g.35456089T= | CA1620905555 | FANCE | c.591T= (p.Pro197=) c.309T= (p.Pro103=) n.231T= c.297T= (p.Pro99=) n.798T= | |
| 6 | g.35456090G>A | CA3771444 | FANCE | c.592G>A (p.Gly198Arg) c.310G>A (p.Gly104Arg) n.232G>A c.298G>A (p.Gly100Arg) n.799G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456090G>C | CA363773235 | FANCE | c.592G>C (p.Gly198Arg) c.310G>C (p.Gly104Arg) n.232G>C c.298G>C (p.Gly100Arg) n.799G>C | |
| 6 | g.35456090G= | CA1620905556 | FANCE | c.592G= (p.Gly198=) c.310G= (p.Gly104=) n.232G= c.298G= (p.Gly100=) n.799G= | |
| 6 | g.35456090G>T | CA363773236 | FANCE | c.592G>T (p.Gly198Trp) c.310G>T (p.Gly104Trp) n.232G>T c.298G>T (p.Gly100Trp) n.799G>T | |
| 6 | g.35456091G>A | CA363773237 | FANCE | c.593G>A (p.Gly198Glu) c.311G>A (p.Gly104Glu) n.233G>A c.299G>A (p.Gly100Glu) n.800G>A | |
| 6 | g.35456091G>C | CA363773238 | FANCE | c.593G>C (p.Gly198Ala) c.311G>C (p.Gly104Ala) n.233G>C c.299G>C (p.Gly100Ala) n.800G>C | |
| 6 | g.35456091G>T | CA363773239 | FANCE | c.593G>T (p.Gly198Val) c.311G>T (p.Gly104Val) n.233G>T c.299G>T (p.Gly100Val) n.800G>T | |
| 6 | g.35456092G>A | CA450123792 | FANCE | c.594G>A (p.Gly198=) c.312G>A (p.Gly104=) n.234G>A c.300G>A (p.Gly100=) n.801G>A | dbSNP gnomAD v4 |
| 6 | g.35456092G>C | CA450123793 | FANCE | c.594G>C (p.Gly198=) c.312G>C (p.Gly104=) n.234G>C c.300G>C (p.Gly100=) n.801G>C | |
| 6 | g.35456092G>T | CA450123794 | FANCE | c.594G>T (p.Gly198=) c.312G>T (p.Gly104=) n.234G>T c.300G>T (p.Gly100=) n.801G>T | |
| 6 | g.35456093A>C | CA363773240 | FANCE | c.595A>C (p.Lys199Gln) c.313A>C (p.Lys105Gln) n.235A>C c.301A>C (p.Lys101Gln) n.802A>C | |
| 6 | g.35456093A>G | CA363773241 | FANCE | c.595A>G (p.Lys199Glu) c.313A>G (p.Lys105Glu) n.235A>G c.301A>G (p.Lys101Glu) n.802A>G | |
| 6 | g.35456093A>T | CA363773242 | FANCE | c.595A>T (p.Lys199Ter) c.313A>T (p.Lys105Ter) n.235A>T c.301A>T (p.Lys101Ter) n.802A>T | |
| 6 | g.35456094A>C | CA363773244 | FANCE | c.596A>C (p.Lys199Thr) c.314A>C (p.Lys105Thr) n.236A>C c.302A>C (p.Lys101Thr) n.803A>C | |
| 6 | g.35456094A>G | CA363773245 | FANCE | c.596A>G (p.Lys199Arg) c.314A>G (p.Lys105Arg) n.236A>G c.302A>G (p.Lys101Arg) n.803A>G | |
| 6 | g.35456094A>T | CA363773243 | FANCE | c.596A>T (p.Lys199Ile) c.314A>T (p.Lys105Ile) n.236A>T c.302A>T (p.Lys101Ile) n.803A>T | |
| 6 | g.35456095A= | CA1620905557 | FANCE | c.597A= (p.Lys199=) c.315A= (p.Lys105=) n.237A= c.303A= (p.Lys101=) n.804A= | |
| 6 | g.35456095A>C | CA363773246 | FANCE | c.597A>C (p.Lys199Asn) c.315A>C (p.Lys105Asn) n.237A>C c.303A>C (p.Lys101Asn) n.804A>C | |
| 6 | g.35456095A>G | CA3771445 | FANCE | c.597A>G (p.Lys199=) c.315A>G (p.Lys105=) n.237A>G c.303A>G (p.Lys101=) n.804A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456095A>T | CA363773247 | FANCE | c.597A>T (p.Lys199Asn) c.315A>T (p.Lys105Asn) n.237A>T c.303A>T (p.Lys101Asn) n.804A>T | |
| 6 | g.35456096C>A | CA363773248 | FANCE | c.598C>A (p.Arg200Ser) c.316C>A (p.Arg106Ser) n.238C>A c.304C>A (p.Arg102Ser) n.805C>A | |
| 6 | g.35456096C= | CA1620905558 | FANCE | c.598C= (p.Arg200=) c.316C= (p.Arg106=) n.238C= c.304C= (p.Arg102=) n.805C= | |
| 6 | g.35456096C>G | CA363773249 | FANCE | c.598C>G (p.Arg200Gly) c.316C>G (p.Arg106Gly) n.238C>G c.304C>G (p.Arg102Gly) n.805C>G | |
| 6 | g.35456096C>T | CA3771446 | FANCE | c.598C>T (p.Arg200Cys) c.316C>T (p.Arg106Cys) n.238C>T c.304C>T (p.Arg102Cys) n.805C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.35456097G>A | CA3771447 | FANCE | c.599G>A (p.Arg200His) c.317G>A (p.Arg106His) n.239G>A c.305G>A (p.Arg102His) n.806G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.35456097G>C | CA363773251 | FANCE | c.599G>C (p.Arg200Pro) c.317G>C (p.Arg106Pro) n.239G>C c.305G>C (p.Arg102Pro) n.806G>C | |
| 6 | g.35456097G= | CA1620905559 | FANCE | c.599G= (p.Arg200=) c.317G= (p.Arg106=) n.239G= c.305G= (p.Arg102=) n.806G= | |
| 6 | g.35456097G>T | CA363773250 | FANCE | c.599G>T (p.Arg200Leu) c.317G>T (p.Arg106Leu) n.239G>T c.305G>T (p.Arg102Leu) n.806G>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35456098C>A | CA450123800 | FANCE | c.600C>A (p.Arg200=) c.318C>A (p.Arg106=) n.240C>A c.306C>A (p.Arg102=) n.807C>A | |
| 6 | g.35456098C= | CA1620905560 | FANCE | c.600C= (p.Arg200=) c.318C= (p.Arg106=) n.240C= c.306C= (p.Arg102=) n.807C= | |
| 6 | g.35456098C>G | CA450123801 | FANCE | c.600C>G (p.Arg200=) c.318C>G (p.Arg106=) n.240C>G c.306C>G (p.Arg102=) n.807C>G | |
| 6 | g.35456098C>T | CA450123802 | FANCE | c.600C>T (p.Arg200=) c.318C>T (p.Arg106=) n.240C>T c.306C>T (p.Arg102=) n.807C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35456099A>C | CA450123803 | FANCE | c.601A>C (p.Arg201=) c.319A>C (p.Arg107=) n.241A>C c.307A>C (p.Arg103=) n.808A>C | gnomAD v4 |
| 6 | g.35456099A>G | CA363773252 | FANCE | c.601A>G (p.Arg201Gly) c.319A>G (p.Arg107Gly) n.241A>G c.307A>G (p.Arg103Gly) n.808A>G | |
| 6 | g.35456099A>T | CA363773253 | FANCE | c.601A>T (p.Arg201Ter) c.319A>T (p.Arg107Ter) n.241A>T c.307A>T (p.Arg103Ter) n.808A>T | |
| 6 | g.35456100_35456101del | CA2678405716 | FANCE | c.602_603del (p.Arg201LysfsTer11) c.320_321del (p.Arg107LysfsTer11) n.242_243del c.308_309del (p.Arg103LysfsTer11) n.809_810del | gnomAD v4 |
| 6 | g.35456100G>A | CA363773254 | FANCE | c.602G>A (p.Arg201Lys) c.320G>A (p.Arg107Lys) n.242G>A c.308G>A (p.Arg103Lys) n.809G>A | dbSNP |
| 6 | g.35456100G>C | CA363773255 | FANCE | c.602G>C (p.Arg201Thr) c.320G>C (p.Arg107Thr) n.242G>C c.308G>C (p.Arg103Thr) n.809G>C | |
| 6 | g.35456100G>T | CA363773256 | FANCE | c.602G>T (p.Arg201Ile) c.320G>T (p.Arg107Ile) n.242G>T c.308G>T (p.Arg103Ile) n.809G>T | |
| 6 | g.35456101A>C | CA363773258 | FANCE | c.603A>C (p.Arg201Ser) c.321A>C (p.Arg107Ser) n.243A>C c.309A>C (p.Arg103Ser) n.810A>C | |
| 6 | g.35456101A>G | CA450123805 | FANCE | c.603A>G (p.Arg201=) c.321A>G (p.Arg107=) n.243A>G c.309A>G (p.Arg103=) n.810A>G | |
| 6 | g.35456101A>T | CA363773257 | FANCE | c.603A>T (p.Arg201Ser) c.321A>T (p.Arg107Ser) n.243A>T c.309A>T (p.Arg103Ser) n.810A>T | |
| 6 | g.35456102A>C | CA363773259 | FANCE | c.604A>C (p.Lys202Gln) c.322A>C (p.Lys108Gln) n.244A>C c.310A>C (p.Lys104Gln) n.811A>C | |
| 6 | g.35456102A>G | CA363773260 | FANCE | c.604A>G (p.Lys202Glu) c.322A>G (p.Lys108Glu) n.244A>G c.310A>G (p.Lys104Glu) n.811A>G | |
| 6 | g.35456102A>T | CA363773261 | FANCE | c.604A>T (p.Lys202Ter) c.322A>T (p.Lys108Ter) n.244A>T c.310A>T (p.Lys104Ter) n.811A>T | |
| 6 | g.35456103A= | CA1620905561 | FANCE | c.605A= (p.Lys202=) c.323A= (p.Lys108=) n.245A= c.311A= (p.Lys104=) n.812A= | |
| 6 | g.35456103A>C | CA363773262 | FANCE | c.605A>C (p.Lys202Thr) c.323A>C (p.Lys108Thr) n.245A>C c.311A>C (p.Lys104Thr) n.812A>C | |
| 6 | g.35456103A>G | CA3771448 | FANCE | c.605A>G (p.Lys202Arg) c.323A>G (p.Lys108Arg) n.245A>G c.311A>G (p.Lys104Arg) n.812A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456103A>T | CA363773263 | FANCE | c.605A>T (p.Lys202Met) c.323A>T (p.Lys108Met) n.245A>T c.311A>T (p.Lys104Met) n.812A>T | |
| 6 | g.35456104G>A | CA450123808 | FANCE | c.606G>A (p.Lys202=) c.324G>A (p.Lys108=) n.246G>A c.312G>A (p.Lys104=) n.813G>A | |
| 6 | g.35456104G>C | CA363773264 | FANCE | c.606G>C (p.Lys202Asn) c.324G>C (p.Lys108Asn) n.246G>C c.312G>C (p.Lys104Asn) n.813G>C | dbSNP gnomAD v4 |
| 6 | g.35456104G= | CA1620905562 | FANCE | c.606G= (p.Lys202=) c.324G= (p.Lys108=) n.246G= c.312G= (p.Lys104=) n.813G= | |
| 6 | g.35456104G>T | CA363773265 | FANCE | c.606G>T (p.Lys202Asn) c.324G>T (p.Lys108Asn) n.246G>T c.312G>T (p.Lys104Asn) n.813G>T | |
| 6 | g.35456105G>A | CA363773266 | FANCE | c.607G>A (p.Asp203Asn) c.325G>A (p.Asp109Asn) n.247G>A c.313G>A (p.Asp105Asn) n.814G>A | |
| 6 | g.35456105G>C | CA363773267 | FANCE | c.607G>C (p.Asp203His) c.325G>C (p.Asp109His) n.247G>C c.313G>C (p.Asp105His) n.814G>C | dbSNP |
| 6 | g.35456105G>T | CA363773268 | FANCE | c.607G>T (p.Asp203Tyr) c.325G>T (p.Asp109Tyr) n.247G>T c.313G>T (p.Asp105Tyr) n.814G>T | |
| 6 | g.35456106A>C | CA363773269 | FANCE | c.608A>C (p.Asp203Ala) c.326A>C (p.Asp109Ala) n.248A>C c.314A>C (p.Asp105Ala) n.815A>C | |
| 6 | g.35456106A>G | CA363773270 | FANCE | c.608A>G (p.Asp203Gly) c.326A>G (p.Asp109Gly) n.248A>G c.314A>G (p.Asp105Gly) n.815A>G | |
| 6 | g.35456106A>T | CA363773271 | FANCE | c.608A>T (p.Asp203Val) c.326A>T (p.Asp109Val) n.248A>T c.314A>T (p.Asp105Val) n.815A>T | gnomAD v4 |
| 6 | g.35456107C>A | CA363773273 | FANCE | c.609C>A (p.Asp203Glu) c.327C>A (p.Asp109Glu) n.249C>A c.315C>A (p.Asp105Glu) n.816C>A | dbSNP |
| 6 | g.35456107C>G | CA363773272 | FANCE | c.609C>G (p.Asp203Glu) c.327C>G (p.Asp109Glu) n.249C>G c.315C>G (p.Asp105Glu) n.816C>G | dbSNP |
| 6 | g.35456107C>T | CA450123810 | FANCE | c.609C>T (p.Asp203=) c.327C>T (p.Asp109=) n.249C>T c.315C>T (p.Asp105=) n.816C>T | |
| 6 | g.35456108T>A | CA363773274 | FANCE | c.610T>A (p.Ser204Thr) c.328T>A (p.Ser110Thr) n.250T>A c.316T>A (p.Ser106Thr) n.817T>A | dbSNP |
| 6 | g.35456108T>C | CA363773275 | FANCE | c.610T>C (p.Ser204Pro) c.328T>C (p.Ser110Pro) n.250T>C c.316T>C (p.Ser106Pro) n.817T>C | |
| 6 | g.35456108T>G | CA3771449 | FANCE | c.610T>G (p.Ser204Ala) c.328T>G (p.Ser110Ala) n.250T>G c.316T>G (p.Ser106Ala) n.817T>G | dbSNP ExAC |
| 6 | g.35456108T= | CA1620905563 | FANCE | c.610T= (p.Ser204=) c.328T= (p.Ser110=) n.250T= c.316T= (p.Ser106=) n.817T= | |
| 6 | g.35456109C>A | CA363773276 | FANCE | c.611C>A (p.Ser204Ter) c.329C>A (p.Ser110Ter) n.251C>A c.317C>A (p.Ser106Ter) n.818C>A | dbSNP |
| 6 | g.35456109C= | CA1620905564 | FANCE | c.611C= (p.Ser204=) c.329C= (p.Ser110=) n.251C= c.317C= (p.Ser106=) n.818C= | |
| 6 | g.35456109C>G | CA363773277 | FANCE | c.611C>G (p.Ser204Ter) c.329C>G (p.Ser110Ter) n.251C>G c.317C>G (p.Ser106Ter) n.818C>G | |
| 6 | g.35456109C>T | CA159528 | FANCE | c.611C>T (p.Ser204Leu) c.329C>T (p.Ser110Leu) n.251C>T c.317C>T (p.Ser106Leu) n.818C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456110A>C | CA450123812 | FANCE | c.612A>C (p.Ser204=) c.330A>C (p.Ser110=) n.252A>C c.318A>C (p.Ser106=) n.819A>C | |
| 6 | g.35456110A>G | CA450123814 | FANCE | c.612A>G (p.Ser204=) c.330A>G (p.Ser110=) n.252A>G c.318A>G (p.Ser106=) n.819A>G | |
| 6 | g.35456110A>T | CA450123815 | FANCE | c.612A>T (p.Ser204=) c.330A>T (p.Ser110=) n.252A>T c.318A>T (p.Ser106=) n.819A>T | |
| 6 | g.35456112_35456113del | CA2739272985 | FANCE | c.614_615del (p.Glu205GlyfsTer7) c.332_333del (p.Glu111GlyfsTer7) n.254_255del c.320_321del (p.Glu107GlyfsTer7) n.821_822del | ClinVar |
| 6 | g.35456111G>A | CA363773280 | FANCE | c.613G>A (p.Glu205Lys) c.331G>A (p.Glu111Lys) n.253G>A c.319G>A (p.Glu107Lys) n.820G>A | |
| 6 | g.35456111G>C | CA363773278 | FANCE | c.613G>C (p.Glu205Gln) c.331G>C (p.Glu111Gln) n.253G>C c.319G>C (p.Glu107Gln) n.820G>C | |
| 6 | g.35456111G>T | CA363773279 | FANCE | c.613G>T (p.Glu205Ter) c.331G>T (p.Glu111Ter) n.253G>T c.319G>T (p.Glu107Ter) n.820G>T | |
| 6 | g.35456112A= | CA1620905565 | FANCE | c.614A= (p.Glu205=) c.332A= (p.Glu111=) n.254A= c.320A= (p.Glu107=) n.821A= | |
| 6 | g.35456112A>C | CA363773281 | FANCE | c.614A>C (p.Glu205Ala) c.332A>C (p.Glu111Ala) n.254A>C c.320A>C (p.Glu107Ala) n.821A>C | |
| 6 | g.35456112A>G | CA3771450 | FANCE | c.614A>G (p.Glu205Gly) c.332A>G (p.Glu111Gly) n.254A>G c.320A>G (p.Glu107Gly) n.821A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456112A>T | CA363773282 | FANCE | c.614A>T (p.Glu205Val) c.332A>T (p.Glu111Val) n.254A>T c.320A>T (p.Glu107Val) n.821A>T | |
| 6 | g.35456113G>A | CA450123817 | FANCE | c.615G>A (p.Glu205=) c.333G>A (p.Glu111=) n.255G>A c.321G>A (p.Glu107=) n.822G>A | dbSNP gnomAD v4 |
| 6 | g.35456113G>C | CA363773283 | FANCE | c.615G>C (p.Glu205Asp) c.333G>C (p.Glu111Asp) n.255G>C c.321G>C (p.Glu107Asp) n.822G>C | |
| 6 | g.35456113G>T | CA363773284 | FANCE | c.615G>T (p.Glu205Asp) c.333G>T (p.Glu111Asp) n.255G>T c.321G>T (p.Glu107Asp) n.822G>T | |
| 6 | g.35456114G>A | CA363773289 | FANCE | c.616G>A (p.Glu206Lys) c.334G>A (p.Glu112Lys) n.256G>A c.322G>A (p.Glu108Lys) n.823G>A | gnomAD v4 |
| 6 | g.35456114G>C | CA3771451 | FANCE | c.616G>C (p.Glu206Gln) c.334G>C (p.Glu112Gln) n.256G>C c.322G>C (p.Glu108Gln) n.823G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456114G= | CA1620905566 | FANCE | c.616G= (p.Glu206=) c.334G= (p.Glu112=) n.256G= c.322G= (p.Glu108=) n.823G= | |
| 6 | g.35456114G>T | CA363773287 | FANCE | c.616G>T (p.Glu206Ter) c.334G>T (p.Glu112Ter) n.256G>T c.322G>T (p.Glu108Ter) n.823G>T | |
| 6 | g.35456115A>C | CA363773292 | FANCE | c.617A>C (p.Glu206Ala) c.335A>C (p.Glu112Ala) n.257A>C c.323A>C (p.Glu108Ala) n.824A>C | |
| 6 | g.35456115A>G | CA363773294 | FANCE | c.617A>G (p.Glu206Gly) c.335A>G (p.Glu112Gly) n.257A>G c.323A>G (p.Glu108Gly) n.824A>G | |
| 6 | g.35456115A>T | CA363773296 | FANCE | c.617A>T (p.Glu206Val) c.335A>T (p.Glu112Val) n.257A>T c.323A>T (p.Glu108Val) n.824A>T | |
| 6 | g.35456116A>C | CA363773298 | FANCE | c.618A>C (p.Glu206Asp) c.336A>C (p.Glu112Asp) n.258A>C c.324A>C (p.Glu108Asp) n.825A>C | |
| 6 | g.35456116A>G | CA450123818 | FANCE | c.618A>G (p.Glu206=) c.336A>G (p.Glu112=) n.258A>G c.324A>G (p.Glu108=) n.825A>G | ClinVar gnomAD v4 |
| 6 | g.35456116A>T | CA363773299 | FANCE | c.618A>T (p.Glu206Asp) c.336A>T (p.Glu112Asp) n.258A>T c.324A>T (p.Glu108Asp) n.825A>T | |
| 6 | g.35456117G>A | CA363773302 | FANCE | c.619G>A (p.Glu207Lys) c.337G>A (p.Glu113Lys) n.259G>A c.325G>A (p.Glu109Lys) n.826G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456117G>C | CA363773304 | FANCE | c.619G>C (p.Glu207Gln) c.337G>C (p.Glu113Gln) n.259G>C c.325G>C (p.Glu109Gln) n.826G>C | |
| 6 | g.35456117G= | CA1620905567 | FANCE | c.619G= (p.Glu207=) c.337G= (p.Glu113=) n.259G= c.325G= (p.Glu109=) n.826G= | |
| 6 | g.35456117G>T | CA363773306 | FANCE | c.619G>T (p.Glu207Ter) c.337G>T (p.Glu113Ter) n.259G>T c.325G>T (p.Glu109Ter) n.826G>T | |
| 6 | g.35456118A>C | CA363773308 | FANCE | c.620A>C (p.Glu207Ala) c.338A>C (p.Glu113Ala) n.260A>C c.326A>C (p.Glu109Ala) n.827A>C | |
| 6 | g.35456118A>G | CA363773311 | FANCE | c.620A>G (p.Glu207Gly) c.338A>G (p.Glu113Gly) n.260A>G c.326A>G (p.Glu109Gly) n.827A>G | dbSNP |
| 6 | g.35456118A>T | CA363773313 | FANCE | c.620A>T (p.Glu207Val) c.338A>T (p.Glu113Val) n.260A>T c.326A>T (p.Glu109Val) n.827A>T | |
| 6 | g.35456119G>A | CA450123822 | FANCE | c.621G>A (p.Glu207=) c.339G>A (p.Glu113=) n.261G>A c.327G>A (p.Glu109=) n.828G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456119G>C | CA363773315 | FANCE | c.621G>C (p.Glu207Asp) c.339G>C (p.Glu113Asp) n.261G>C c.327G>C (p.Glu109Asp) n.828G>C | |
| 6 | g.35456119G= | CA1620905568 | FANCE | c.621G= (p.Glu207=) c.339G= (p.Glu113=) n.261G= c.327G= (p.Glu109=) n.828G= | |
| 6 | g.35456119G>T | CA363773317 | FANCE | c.621G>T (p.Glu207Asp) c.339G>T (p.Glu113Asp) n.261G>T c.327G>T (p.Glu109Asp) n.828G>T | dbSNP |
| 6 | g.35456120G>A | CA363773324 | FANCE | c.622G>A (p.Ala208Thr) c.340G>A (p.Ala114Thr) n.262G>A c.328G>A (p.Ala110Thr) n.829G>A | dbSNP |
| 6 | g.35456120G>C | CA363773322 | FANCE | c.622G>C (p.Ala208Pro) c.340G>C (p.Ala114Pro) n.262G>C c.328G>C (p.Ala110Pro) n.829G>C | |
| 6 | g.35456120G>T | CA363773320 | FANCE | c.622G>T (p.Ala208Ser) c.340G>T (p.Ala114Ser) n.262G>T c.328G>T (p.Ala110Ser) n.829G>T | |
| 6 | g.35456121C>A | CA363773326 | FANCE | c.623C>A (p.Ala208Asp) c.341C>A (p.Ala114Asp) n.263C>A c.329C>A (p.Ala110Asp) n.830C>A | |
| 6 | g.35456121C>G | CA363773328 | FANCE | c.623C>G (p.Ala208Gly) c.341C>G (p.Ala114Gly) n.263C>G c.329C>G (p.Ala110Gly) n.830C>G | |
| 6 | g.35456121C>T | CA363773329 | FANCE | c.623C>T (p.Ala208Val) c.341C>T (p.Ala114Val) n.263C>T c.329C>T (p.Ala110Val) n.830C>T | |
| 6 | g.35456122T>A | CA450123826 | FANCE | c.624T>A (p.Ala208=) c.342T>A (p.Ala114=) n.264T>A c.330T>A (p.Ala110=) n.831T>A | |
| 6 | g.35456122T>C | CA450123823 | FANCE | c.624T>C (p.Ala208=) c.342T>C (p.Ala114=) n.264T>C c.330T>C (p.Ala110=) n.831T>C | |
| 6 | g.35456122T>G | CA450123825 | FANCE | c.624T>G (p.Ala208=) c.342T>G (p.Ala114=) n.264T>G c.330T>G (p.Ala110=) n.831T>G | |
| 6 | g.35456123G>A | CA3771452 | FANCE | c.625G>A (p.Ala209Thr) c.343G>A (p.Ala115Thr) n.265G>A c.331G>A (p.Ala111Thr) n.832G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456123G>C | CA363773333 | FANCE | c.625G>C (p.Ala209Pro) c.343G>C (p.Ala115Pro) n.265G>C c.331G>C (p.Ala111Pro) n.832G>C | |
| 6 | g.35456123G= | CA1620905569 | FANCE | c.625G= (p.Ala209=) c.343G= (p.Ala115=) n.265G= c.331G= (p.Ala111=) n.832G= | |
| 6 | g.35456123G>T | CA363773334 | FANCE | c.625G>T (p.Ala209Ser) c.343G>T (p.Ala115Ser) n.265G>T c.331G>T (p.Ala111Ser) n.832G>T | |
| 6 | g.35456124C>A | CA363773336 | FANCE | c.626C>A (p.Ala209Asp) c.344C>A (p.Ala115Asp) n.266C>A c.332C>A (p.Ala111Asp) n.833C>A | |
| 6 | g.35456124C>G | CA363773338 | FANCE | c.626C>G (p.Ala209Gly) c.344C>G (p.Ala115Gly) n.266C>G c.332C>G (p.Ala111Gly) n.833C>G | |
| 6 | g.35456124C>T | CA363773339 | FANCE | c.626C>T (p.Ala209Val) c.344C>T (p.Ala115Val) n.266C>T c.332C>T (p.Ala111Val) n.833C>T | dbSNP gnomAD v4 |
| 6 | g.35456125C>A | CA450123827 | FANCE | c.627C>A (p.Ala209=) c.345C>A (p.Ala115=) n.267C>A c.333C>A (p.Ala111=) n.834C>A | |
| 6 | g.35456125C= | CA1620905570 | FANCE | c.627C= (p.Ala209=) c.345C= (p.Ala115=) n.267C= c.333C= (p.Ala111=) n.834C= | |
| 6 | g.35456125C>G | CA3771453 | FANCE | c.627C>G (p.Ala209=) c.345C>G (p.Ala115=) n.267C>G c.333C>G (p.Ala111=) n.834C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456125C>T | CA450123828 | FANCE | c.627C>T (p.Ala209=) c.345C>T (p.Ala115=) n.267C>T c.333C>T (p.Ala111=) n.834C>T | |
| 6 | g.35456126A= | CA1620905571 | FANCE | c.628A= (p.Ser210=) c.346A= (p.Ser116=) n.268A= c.334A= (p.Ser112=) n.835A= | |
| 6 | g.35456126A>C | CA363773342 | FANCE | c.628A>C (p.Ser210Arg) c.346A>C (p.Ser116Arg) n.268A>C c.334A>C (p.Ser112Arg) n.835A>C | gnomAD v4 |
| 6 | g.35456126A>G | CA3771454 | FANCE | c.628A>G (p.Ser210Gly) c.346A>G (p.Ser116Gly) n.268A>G c.334A>G (p.Ser112Gly) n.835A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456126A>T | CA363773343 | FANCE | c.628A>T (p.Ser210Cys) c.346A>T (p.Ser116Cys) n.268A>T c.334A>T (p.Ser112Cys) n.835A>T | |
| 6 | g.35456127G>A | CA363773349 | FANCE | c.629G>A (p.Ser210Asn) c.347G>A (p.Ser116Asn) n.269G>A c.335G>A (p.Ser112Asn) n.836G>A | gnomAD v4 |
| 6 | g.35456127G>C | CA363773351 | FANCE | c.629G>C (p.Ser210Thr) c.347G>C (p.Ser116Thr) n.269G>C c.335G>C (p.Ser112Thr) n.836G>C | |
| 6 | g.35456127G>T | CA363773346 | FANCE | c.629G>T (p.Ser210Ile) c.347G>T (p.Ser116Ile) n.269G>T c.335G>T (p.Ser112Ile) n.836G>T | |
| 6 | g.35456128T>A | CA363773352 | FANCE | c.630T>A (p.Ser210Arg) c.348T>A (p.Ser116Arg) n.270T>A c.336T>A (p.Ser112Arg) n.837T>A | |
| 6 | g.35456128T>C | CA450123832 | FANCE | c.630T>C (p.Ser210=) c.348T>C (p.Ser116=) n.270T>C c.336T>C (p.Ser112=) n.837T>C | |
| 6 | g.35456128T>G | CA363773354 | FANCE | c.630T>G (p.Ser210Arg) c.348T>G (p.Ser116Arg) n.270T>G c.336T>G (p.Ser112Arg) n.837T>G | |
| 6 | g.35456129C>A | CA363773357 | FANCE | c.631C>A (p.Pro211Thr) c.349C>A (p.Pro117Thr) n.271C>A c.337C>A (p.Pro113Thr) n.838C>A | |
| 6 | g.35456129C>G | CA363773359 | FANCE | c.631C>G (p.Pro211Ala) c.349C>G (p.Pro117Ala) n.271C>G c.337C>G (p.Pro113Ala) n.838C>G | dbSNP |
| 6 | g.35456129C>T | CA363773361 | FANCE | c.631C>T (p.Pro211Ser) c.349C>T (p.Pro117Ser) n.271C>T c.337C>T (p.Pro113Ser) n.838C>T | |
| 6 | g.35456130C>A | CA363773363 | FANCE | c.632C>A (p.Pro211His) c.350C>A (p.Pro117His) n.272C>A c.338C>A (p.Pro113His) n.839C>A | |
| 6 | g.35456130C= | CA1620905572 | FANCE | c.632C= (p.Pro211=) c.350C= (p.Pro117=) n.272C= c.338C= (p.Pro113=) n.839C= | |
| 6 | g.35456130C>G | CA3771455 | FANCE | c.632C>G (p.Pro211Arg) c.350C>G (p.Pro117Arg) n.272C>G c.338C>G (p.Pro113Arg) n.839C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456130C>T | CA363773366 | FANCE | c.632C>T (p.Pro211Leu) c.350C>T (p.Pro117Leu) n.272C>T c.338C>T (p.Pro113Leu) n.839C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35456131T>A | CA450123833 | FANCE | c.633T>A (p.Pro211=) c.351T>A (p.Pro117=) n.273T>A c.339T>A (p.Pro113=) n.840T>A | |
| 6 | g.35456131T>C | CA450123834 | FANCE | c.633T>C (p.Pro211=) c.351T>C (p.Pro117=) n.273T>C c.339T>C (p.Pro113=) n.840T>C | |
| 6 | g.35456131T>G | CA450123836 | FANCE | c.633T>G (p.Pro211=) c.351T>G (p.Pro117=) n.273T>G c.339T>G (p.Pro113=) n.840T>G | |
| 6 | g.35456132G>A | CA363773368 | FANCE | c.634G>A (p.Glu212Lys) c.352G>A (p.Glu118Lys) n.274G>A c.340G>A (p.Glu114Lys) n.841G>A | dbSNP |
| 6 | g.35456132G>C | CA363773369 | FANCE | c.634G>C (p.Glu212Gln) c.352G>C (p.Glu118Gln) n.274G>C c.340G>C (p.Glu114Gln) n.841G>C | |
| 6 | g.35456132G>T | CA363773370 | FANCE | c.634G>T (p.Glu212Ter) c.352G>T (p.Glu118Ter) n.274G>T c.340G>T (p.Glu114Ter) n.841G>T | |
| 6 | g.35456132_35456133delinsGA | CA1620905573 | FANCE | c.634_635delinsGA (p.Glu212=) c.352_353delinsGA (p.Glu118=) n.274_275delinsGA c.340_341delinsGA (p.Glu114=) n.841_842delinsGA | |
| 6 | g.35456133del | CA450123838 | FANCE | c.635del (p.Glu212GlyfsTer?) c.353del (p.Glu118GlyfsTer?) n.275del c.341del (p.Glu114GlyfsTer?) n.842del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35456133A>C | CA363773371 | FANCE | c.635A>C (p.Glu212Ala) c.353A>C (p.Glu118Ala) n.275A>C c.341A>C (p.Glu114Ala) n.842A>C | |
| 6 | g.35456133A>G | CA363773373 | FANCE | c.635A>G (p.Glu212Gly) c.353A>G (p.Glu118Gly) n.275A>G c.341A>G (p.Glu114Gly) n.842A>G | dbSNP |
| 6 | g.35456133A>T | CA363773375 | FANCE | c.635A>T (p.Glu212Val) c.353A>T (p.Glu118Val) n.275A>T c.341A>T (p.Glu114Val) n.842A>T | |
| 6 | g.35456134G>A | CA450123839 | FANCE | c.636G>A (p.Glu212=) c.354G>A (p.Glu118=) n.276G>A c.342G>A (p.Glu114=) n.843G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35456134G>C | CA363773383 | FANCE | c.636G>C (p.Glu212Asp) c.354G>C (p.Glu118Asp) n.276G>C c.342G>C (p.Glu114Asp) n.843G>C | |
| 6 | g.35456134G= | CA1620905574 | FANCE | c.636G= (p.Glu212=) c.354G= (p.Glu118=) n.276G= c.342G= (p.Glu114=) n.843G= | |
| 6 | g.35456134G>T | CA363773378 | FANCE | c.636G>T (p.Glu212Asp) c.354G>T (p.Glu118Asp) n.276G>T c.342G>T (p.Glu114Asp) n.843G>T | |
| 6 | g.35456135G>A | CA363773385 | FANCE | c.637G>A (p.Gly213Arg) c.355G>A (p.Gly119Arg) n.277G>A c.343G>A (p.Gly115Arg) n.844G>A | COSMIC |
| 6 | g.35456135G>C | CA363773387 | FANCE | c.637G>C (p.Gly213Arg) c.355G>C (p.Gly119Arg) n.277G>C c.343G>C (p.Gly115Arg) n.844G>C | ClinVar |
| 6 | g.35456135G>T | CA363773388 | FANCE | c.637G>T (p.Gly213Trp) c.355G>T (p.Gly119Trp) n.277G>T c.343G>T (p.Gly115Trp) n.844G>T | |
| 6 | g.35456136G>A | CA363773390 | FANCE | c.638G>A (p.Gly213Glu) c.356G>A (p.Gly119Glu) n.278G>A c.344G>A (p.Gly115Glu) n.845G>A | dbSNP |
| 6 | g.35456136G>C | CA363773392 | FANCE | c.638G>C (p.Gly213Ala) c.356G>C (p.Gly119Ala) n.278G>C c.344G>C (p.Gly115Ala) n.845G>C | |
| 6 | g.35456136G>T | CA363773394 | FANCE | c.638G>T (p.Gly213Val) c.356G>T (p.Gly119Val) n.278G>T c.344G>T (p.Gly115Val) n.845G>T | |
| 6 | g.35456137G>A | CA450123841 | FANCE | c.639G>A (p.Gly213=) c.357G>A (p.Gly119=) n.279G>A c.345G>A (p.Gly115=) n.846G>A | |
| 6 | g.35456137G>C | CA450123842 | FANCE | c.639G>C (p.Gly213=) c.357G>C (p.Gly119=) n.279G>C c.345G>C (p.Gly115=) n.846G>C | |
| 6 | g.35456137G>T | CA450123843 | FANCE | c.639G>T (p.Gly213=) c.357G>T (p.Gly119=) n.279G>T c.345G>T (p.Gly115=) n.846G>T | gnomAD v4 |
| 6 | g.35456138A>C | CA363773396 | FANCE | c.640A>C (p.Lys214Gln) c.358A>C (p.Lys120Gln) n.280A>C c.346A>C (p.Lys116Gln) n.847A>C | |
| 6 | g.35456138A>G | CA363773398 | FANCE | c.640A>G (p.Lys214Glu) c.358A>G (p.Lys120Glu) n.280A>G c.346A>G (p.Lys116Glu) n.847A>G | |
| 6 | g.35456138A>T | CA363773399 | FANCE | c.640A>T (p.Lys214Ter) c.358A>T (p.Lys120Ter) n.280A>T c.346A>T (p.Lys116Ter) n.847A>T | |
| 6 | g.35456139A>C | CA363773401 | FANCE | c.641A>C (p.Lys214Thr) c.359A>C (p.Lys120Thr) n.281A>C c.347A>C (p.Lys116Thr) n.848A>C | |
| 6 | g.35456139A>G | CA363773402 | FANCE | c.641A>G (p.Lys214Arg) c.359A>G (p.Lys120Arg) n.281A>G c.347A>G (p.Lys116Arg) n.848A>G | COSMIC |
| 6 | g.35456139A>T | CA363773404 | FANCE | c.641A>T (p.Lys214Met) c.359A>T (p.Lys120Met) n.281A>T c.347A>T (p.Lys116Met) n.848A>T | |
| 6 | g.35456140G>A | CA3771456 | FANCE | c.642G>A (p.Lys214=) c.360G>A (p.Lys120=) n.282G>A c.348G>A (p.Lys116=) n.849G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456140G>C | CA363773410 | FANCE | c.642G>C (p.Lys214Asn) c.360G>C (p.Lys120Asn) n.282G>C c.348G>C (p.Lys116Asn) n.849G>C | gnomAD v4 |
| 6 | g.35456140G= | CA1620905575 | FANCE | c.642G= (p.Lys214=) c.360G= (p.Lys120=) n.282G= c.348G= (p.Lys116=) n.849G= | |
| 6 | g.35456140G>T | CA363773407 | FANCE | c.642G>T (p.Lys214Asn) c.360G>T (p.Lys120Asn) n.282G>T c.348G>T (p.Lys116Asn) n.849G>T | dbSNP |
| 6 | g.35456141A>C | CA450123844 | FANCE | c.643A>C (p.Arg215=) c.361A>C (p.Arg121=) n.283A>C c.349A>C (p.Arg117=) n.850A>C | |
| 6 | g.35456141A>G | CA363773413 | FANCE | c.643A>G (p.Arg215Gly) c.361A>G (p.Arg121Gly) n.283A>G c.349A>G (p.Arg117Gly) n.850A>G | |
| 6 | g.35456141A>T | CA363773414 | FANCE | c.643A>T (p.Arg215Trp) c.361A>T (p.Arg121Trp) n.283A>T c.349A>T (p.Arg117Trp) n.850A>T | |
| 6 | g.35456142G>A | CA363773416 | FANCE | c.644G>A (p.Arg215Lys) c.362G>A (p.Arg121Lys) n.284G>A c.350G>A (p.Arg117Lys) n.851G>A | |
| 6 | g.35456142G>C | CA363773418 | FANCE | c.644G>C (p.Arg215Thr) c.362G>C (p.Arg121Thr) n.284G>C c.350G>C (p.Arg117Thr) n.851G>C | |
| 6 | g.35456142G>T | CA363773420 | FANCE | c.644G>T (p.Arg215Met) c.362G>T (p.Arg121Met) n.284G>T c.350G>T (p.Arg117Met) n.851G>T | gnomAD v4 |
| 6 | g.35456143G>A | CA450123845 | FANCE | c.645G>A (p.Arg215=) c.363G>A (p.Arg121=) n.285G>A c.351G>A (p.Arg117=) n.852G>A | |
| 6 | g.35456143G>C | CA3771457 | FANCE | c.645G>C (p.Arg215Ser) c.363G>C (p.Arg121Ser) n.285G>C c.351G>C (p.Arg117Ser) n.852G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456143G= | CA1620905576 | FANCE | c.645G= (p.Arg215=) c.363G= (p.Arg121=) n.285G= c.351G= (p.Arg117=) n.852G= | |
| 6 | g.35456143G>T | CA363773422 | FANCE | c.645G>T (p.Arg215Ser) c.363G>T (p.Arg121Ser) n.285G>T c.351G>T (p.Arg117Ser) n.852G>T | |
| 6 | g.35456144G>A | CA363773424 | FANCE | c.646G>A (p.Val216Ile) c.364G>A (p.Val122Ile) n.286G>A c.352G>A (p.Val118Ile) n.853G>A | gnomAD v4 |
| 6 | g.35456144G>C | CA363773426 | FANCE | c.646G>C (p.Val216Leu) c.364G>C (p.Val122Leu) n.286G>C c.352G>C (p.Val118Leu) n.853G>C | |
| 6 | g.35456144G>T | CA363773428 | FANCE | c.646G>T (p.Val216Phe) c.364G>T (p.Val122Phe) n.286G>T c.352G>T (p.Val118Phe) n.853G>T | |
| 6 | g.35456145T>A | CA363773430 | FANCE | c.647T>A (p.Val216Asp) c.365T>A (p.Val122Asp) n.287T>A c.353T>A (p.Val118Asp) n.854T>A | |
| 6 | g.35456145T>C | CA363773432 | FANCE | c.647T>C (p.Val216Ala) c.365T>C (p.Val122Ala) n.287T>C c.353T>C (p.Val118Ala) n.854T>C | |
| 6 | g.35456145T>G | CA363773433 | FANCE | c.647T>G (p.Val216Gly) c.365T>G (p.Val122Gly) n.287T>G c.353T>G (p.Val118Gly) n.854T>G | dbSNP |
| 6 | g.35456145T= | CA1620905577 | FANCE | c.647T= (p.Val216=) c.365T= (p.Val122=) n.287T= c.353T= (p.Val118=) n.854T= | |
| 6 | g.35456146C>A | CA450123846 | FANCE | c.648C>A (p.Val216=) c.366C>A (p.Val122=) n.288C>A c.354C>A (p.Val118=) n.855C>A | dbSNP |
| 6 | g.35456146C= | CA1620905578 | FANCE | c.648C= (p.Val216=) c.366C= (p.Val122=) n.288C= c.354C= (p.Val118=) n.855C= | |
| 6 | g.35456146C>G | CA450123848 | FANCE | c.648C>G (p.Val216=) c.366C>G (p.Val122=) n.288C>G c.354C>G (p.Val118=) n.855C>G | dbSNP |
| 6 | g.35456146C>T | CA450123847 | FANCE | c.648C>T (p.Val216=) c.366C>T (p.Val122=) n.288C>T c.354C>T (p.Val118=) n.855C>T | dbSNP |
| 6 | g.35456149del | CA2695206215 | FANCE | c.651del (p.Arg219AspfsTer?) c.369del (p.Arg125AspfsTer?) n.291del c.357del (p.Arg121AspfsTer?) n.858del | |
| 6 | g.35456147C>A | CA363773437 | FANCE | c.649C>A (p.Pro217Thr) c.367C>A (p.Pro123Thr) n.289C>A c.355C>A (p.Pro119Thr) n.856C>A | |
| 6 | g.35456147C= | CA1620905579 | FANCE | c.649C= (p.Pro217=) c.367C= (p.Pro123=) n.289C= c.355C= (p.Pro119=) n.856C= | |
| 6 | g.35456147C>G | CA363773436 | FANCE | c.649C>G (p.Pro217Ala) c.367C>G (p.Pro123Ala) n.289C>G c.355C>G (p.Pro119Ala) n.856C>G | dbSNP |
| 6 | g.35456147C>T | CA363773434 | FANCE | c.649C>T (p.Pro217Ser) c.367C>T (p.Pro123Ser) n.289C>T c.355C>T (p.Pro119Ser) n.856C>T | dbSNP gnomAD v4 COSMIC |
| 6 | g.35456148C>A | CA363773439 | FANCE | c.650C>A (p.Pro217His) c.368C>A (p.Pro123His) n.290C>A c.356C>A (p.Pro119His) n.857C>A | |
| 6 | g.35456148C>G | CA363773440 | FANCE | c.650C>G (p.Pro217Arg) c.368C>G (p.Pro123Arg) n.290C>G c.356C>G (p.Pro119Arg) n.857C>G | |
| 6 | g.35456148C>T | CA363773441 | FANCE | c.650C>T (p.Pro217Leu) c.368C>T (p.Pro123Leu) n.290C>T c.356C>T (p.Pro119Leu) n.857C>T | |
| 6 | g.35456149C>A | CA450123849 | FANCE | c.651C>A (p.Pro217=) c.369C>A (p.Pro123=) n.291C>A c.357C>A (p.Pro119=) n.858C>A | |
| 6 | g.35456149C>G | CA450123850 | FANCE | c.651C>G (p.Pro217=) c.369C>G (p.Pro123=) n.291C>G c.357C>G (p.Pro119=) n.858C>G | dbSNP |
| 6 | g.35456149C>T | CA450123851 | FANCE | c.651C>T (p.Pro217=) c.369C>T (p.Pro123=) n.291C>T c.357C>T (p.Pro119=) n.858C>T | |
| 6 | g.35456150A= | CA1620905580 | FANCE | c.652A= (p.Lys218=) c.370A= (p.Lys124=) n.292A= c.358A= (p.Lys120=) n.859A= | |
| 6 | g.35456150A>C | CA363773444 | FANCE | c.652A>C (p.Lys218Gln) c.370A>C (p.Lys124Gln) n.292A>C c.358A>C (p.Lys120Gln) n.859A>C | |
| 6 | g.35456150A>G | CA16622023 | FANCE | c.652A>G (p.Lys218Glu) c.370A>G (p.Lys124Glu) n.292A>G c.358A>G (p.Lys120Glu) n.859A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35456150A>T | CA363773446 | FANCE | c.652A>T (p.Lys218Ter) c.370A>T (p.Lys124Ter) n.292A>T c.358A>T (p.Lys120Ter) n.859A>T | |
| 6 | g.35456151A= | CA1620905581 | FANCE | c.653A= (p.Lys218=) c.371A= (p.Lys124=) n.293A= c.359A= (p.Lys120=) n.860A= | |
| 6 | g.35456151A>C | CA363773449 | FANCE | c.653A>C (p.Lys218Thr) c.371A>C (p.Lys124Thr) n.293A>C c.359A>C (p.Lys120Thr) n.860A>C | |
| 6 | g.35456151A>G | CA3771458 | FANCE | c.653A>G (p.Lys218Arg) c.371A>G (p.Lys124Arg) n.293A>G c.359A>G (p.Lys120Arg) n.860A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456151A>T | CA363773452 | FANCE | c.653A>T (p.Lys218Ile) c.371A>T (p.Lys124Ile) n.293A>T c.359A>T (p.Lys120Ile) n.860A>T | |
| 6 | g.35456152A>C | CA363773454 | FANCE | c.654A>C (p.Lys218Asn) c.372A>C (p.Lys124Asn) n.294A>C c.360A>C (p.Lys120Asn) n.861A>C | |
| 6 | g.35456152A>G | CA450123852 | FANCE | c.654A>G (p.Lys218=) c.372A>G (p.Lys124=) n.294A>G c.360A>G (p.Lys120=) n.861A>G | |
| 6 | g.35456152A>T | CA363773456 | FANCE | c.654A>T (p.Lys218Asn) c.372A>T (p.Lys124Asn) n.294A>T c.360A>T (p.Lys120Asn) n.861A>T | |
| 6 | g.35456153A>C | CA450123853 | FANCE | c.655A>C (p.Arg219=) c.373A>C (p.Arg125=) n.295A>C c.361A>C (p.Arg121=) n.862A>C | |
| 6 | g.35456153A>G | CA363773458 | FANCE | c.655A>G (p.Arg219Gly) c.373A>G (p.Arg125Gly) n.295A>G c.361A>G (p.Arg121Gly) n.862A>G | |
| 6 | g.35456153A>T | CA363773460 | FANCE | c.655A>T (p.Arg219Ter) c.373A>T (p.Arg125Ter) n.295A>T c.361A>T (p.Arg121Ter) n.862A>T | |
| 6 | g.35456154del | CA2678405723 | FANCE | c.656del (p.Arg219AsnfsTer?) c.374del (p.Arg125AsnfsTer?) n.296del c.362del (p.Arg121AsnfsTer?) n.863del | gnomAD v4 |
| 6 | g.35456154G>A | CA363773464 | FANCE | c.656G>A (p.Arg219Lys) c.374G>A (p.Arg125Lys) n.296G>A c.362G>A (p.Arg121Lys) n.863G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456154G>C | CA363773466 | FANCE | c.656G>C (p.Arg219Thr) c.374G>C (p.Arg125Thr) n.296G>C c.362G>C (p.Arg121Thr) n.863G>C | |
| 6 | g.35456154G= | CA1620905582 | FANCE | c.656G= (p.Arg219=) c.374G= (p.Arg125=) n.296G= c.362G= (p.Arg121=) n.863G= | |
| 6 | g.35456154G>T | CA3771459 | FANCE | c.656G>T (p.Arg219Ile) c.374G>T (p.Arg125Ile) n.296G>T c.362G>T (p.Arg121Ile) n.863G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456155A>C | CA363773470 | FANCE | c.657A>C (p.Arg219Ser) c.375A>C (p.Arg125Ser) n.297A>C c.363A>C (p.Arg121Ser) n.864A>C | |
| 6 | g.35456155A>G | CA450123854 | FANCE | c.657A>G (p.Arg219=) c.375A>G (p.Arg125=) n.297A>G c.363A>G (p.Arg121=) n.864A>G | |
| 6 | g.35456155A>T | CA363773468 | FANCE | c.657A>T (p.Arg219Ser) c.375A>T (p.Arg125Ser) n.297A>T c.363A>T (p.Arg121Ser) n.864A>T | gnomAD v4 |
| 6 | g.35456156T>A | CA363773475 | FANCE | c.658T>A (p.Leu220Ile) c.376T>A (p.Leu126Ile) n.298T>A c.364T>A (p.Leu122Ile) n.865T>A | |
| 6 | g.35456156T>C | CA450123855 | FANCE | c.658T>C (p.Leu220=) c.376T>C (p.Leu126=) n.298T>C c.364T>C (p.Leu122=) n.865T>C | |
| 6 | g.35456156T>G | CA363773473 | FANCE | c.658T>G (p.Leu220Val) c.376T>G (p.Leu126Val) n.298T>G c.364T>G (p.Leu122Val) n.865T>G | dbSNP |
| 6 | g.35456157T>A | CA363773480 | FANCE | c.659T>A (p.Leu220Ter) c.377T>A (p.Leu126Ter) n.299T>A c.365T>A (p.Leu122Ter) n.866T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456157T>C | CA363773478 | FANCE | c.659T>C (p.Leu220Ser) c.377T>C (p.Leu126Ser) n.299T>C c.365T>C (p.Leu122Ser) n.866T>C | |
| 6 | g.35456157T>G | CA363773482 | FANCE | c.659T>G (p.Leu220Ter) c.377T>G (p.Leu126Ter) n.299T>G c.365T>G (p.Leu122Ter) n.866T>G | gnomAD v4 |
| 6 | g.35456157T= | CA1620905583 | FANCE | c.659T= (p.Leu220=) c.377T= (p.Leu126=) n.299T= c.365T= (p.Leu122=) n.866T= | |
| 6 | g.35456158A= | CA1620905584 | FANCE | c.660A= (p.Leu220=) c.378A= (p.Leu126=) n.300A= c.366A= (p.Leu122=) n.867A= | |
| 6 | g.35456158A>C | CA363773485 | FANCE | c.660A>C (p.Leu220Phe) c.378A>C (p.Leu126Phe) n.300A>C c.366A>C (p.Leu122Phe) n.867A>C | |
| 6 | g.35456158A>G | CA3771460 | FANCE | c.660A>G (p.Leu220=) c.378A>G (p.Leu126=) n.300A>G c.366A>G (p.Leu122=) n.867A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456158A>T | CA363773487 | FANCE | c.660A>T (p.Leu220Phe) c.378A>T (p.Leu126Phe) n.300A>T c.366A>T (p.Leu122Phe) n.867A>T | |
| 6 | g.35456159C>A | CA450123856 | FANCE | c.661C>A (p.Arg221=) c.379C>A (p.Arg127=) n.301C>A c.367C>A (p.Arg123=) n.868C>A | dbSNP |
| 6 | g.35456159C= | CA1620905585 | FANCE | c.661C= (p.Arg221=) c.379C= (p.Arg127=) n.301C= c.367C= (p.Arg123=) n.868C= | |
| 6 | g.35456159C>G | CA363773491 | FANCE | c.661C>G (p.Arg221Gly) c.379C>G (p.Arg127Gly) n.301C>G c.367C>G (p.Arg123Gly) n.868C>G | dbSNP |
| 6 | g.35456159C>T | CA3771461 | FANCE | c.661C>T (p.Arg221Trp) c.379C>T (p.Arg127Trp) n.301C>T c.367C>T (p.Arg123Trp) n.868C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456160G>A | CA3771462 | FANCE | c.662G>A (p.Arg221Gln) c.380G>A (p.Arg127Gln) n.302G>A c.368G>A (p.Arg123Gln) n.869G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.35456160G>C | CA363773496 | FANCE | c.662G>C (p.Arg221Pro) c.380G>C (p.Arg127Pro) n.302G>C c.368G>C (p.Arg123Pro) n.869G>C | dbSNP |
| 6 | g.35456160G= | CA1620905586 | FANCE | c.662G= (p.Arg221=) c.380G= (p.Arg127=) n.302G= c.368G= (p.Arg123=) n.869G= | |
| 6 | g.35456160G>T | CA363773498 | FANCE | c.662G>T (p.Arg221Leu) c.380G>T (p.Arg127Leu) n.302G>T c.368G>T (p.Arg123Leu) n.869G>T | |
| 6 | g.35456161G>A | CA450123859 | FANCE | c.663G>A (p.Arg221=) c.381G>A (p.Arg127=) n.303G>A c.369G>A (p.Arg123=) n.870G>A | dbSNP |
| 6 | g.35456161G>C | CA450123858 | FANCE | c.663G>C (p.Arg221=) c.381G>C (p.Arg127=) n.303G>C c.369G>C (p.Arg123=) n.870G>C | gnomAD v4 |
| 6 | g.35456161G= | CA1620905587 | FANCE | c.663G= (p.Arg221=) c.381G= (p.Arg127=) n.303G= c.369G= (p.Arg123=) n.870G= | |
| 6 | g.35456161G>T | CA450123857 | FANCE | c.663G>T (p.Arg221=) c.381G>T (p.Arg127=) n.303G>T c.369G>T (p.Arg123=) n.870G>T | ClinVar dbSNP |
| 6 | g.35456162T>A | CA363773500 | FANCE | c.664T>A (p.Cys222Ser) c.382T>A (p.Cys128Ser) n.304T>A c.370T>A (p.Cys124Ser) n.871T>A | dbSNP |
| 6 | g.35456162T>C | CA363773502 | FANCE | c.664T>C (p.Cys222Arg) c.382T>C (p.Cys128Arg) n.304T>C c.370T>C (p.Cys124Arg) n.871T>C | |
| 6 | g.35456162T>G | CA363773504 | FANCE | c.664T>G (p.Cys222Gly) c.382T>G (p.Cys128Gly) n.304T>G c.370T>G (p.Cys124Gly) n.871T>G | |
| 6 | g.35456163G>A | CA363773508 | FANCE | c.665G>A (p.Cys222Tyr) c.383G>A (p.Cys128Tyr) n.305G>A c.371G>A (p.Cys124Tyr) n.872G>A | |
| 6 | g.35456163G>C | CA363773510 | FANCE | c.665G>C (p.Cys222Ser) c.383G>C (p.Cys128Ser) n.305G>C c.371G>C (p.Cys124Ser) n.872G>C | gnomAD v4 |
| 6 | g.35456163G>T | CA363773512 | FANCE | c.665G>T (p.Cys222Phe) c.383G>T (p.Cys128Phe) n.305G>T c.371G>T (p.Cys124Phe) n.872G>T | |
| 6 | g.35456164T>A | CA363773514 | FANCE | c.666T>A (p.Cys222Ter) c.384T>A (p.Cys128Ter) n.306T>A c.372T>A (p.Cys124Ter) n.873T>A | |
| 6 | g.35456164T>C | CA450123860 | FANCE | c.666T>C (p.Cys222=) c.384T>C (p.Cys128=) n.306T>C c.372T>C (p.Cys124=) n.873T>C | |
| 6 | g.35456164T>G | CA363773516 | FANCE | c.666T>G (p.Cys222Trp) c.384T>G (p.Cys128Trp) n.306T>G c.372T>G (p.Cys124Trp) n.873T>G | |
| 6 | g.35456165T>A | CA363773521 | FANCE | c.667T>A (p.Trp223Arg) c.385T>A (p.Trp129Arg) n.307T>A c.373T>A (p.Trp125Arg) n.874T>A | |
| 6 | g.35456165T>C | CA363773519 | FANCE | c.667T>C (p.Trp223Arg) c.385T>C (p.Trp129Arg) n.307T>C c.373T>C (p.Trp125Arg) n.874T>C | |
| 6 | g.35456165T>G | CA363773518 | FANCE | c.667T>G (p.Trp223Gly) c.385T>G (p.Trp129Gly) n.307T>G c.373T>G (p.Trp125Gly) n.874T>G | |
| 6 | g.35456166G>A | CA363773524 | FANCE | c.668G>A (p.Trp223Ter) c.386G>A (p.Trp129Ter) n.308G>A c.374G>A (p.Trp125Ter) n.875G>A | |
| 6 | g.35456166G>C | CA363773526 | FANCE | c.668G>C (p.Trp223Ser) c.386G>C (p.Trp129Ser) n.308G>C c.374G>C (p.Trp125Ser) n.875G>C | |
| 6 | g.35456166G>T | CA363773528 | FANCE | c.668G>T (p.Trp223Leu) c.386G>T (p.Trp129Leu) n.308G>T c.374G>T (p.Trp125Leu) n.875G>T | |
| 6 | g.35456167G>A | CA363773530 | FANCE | c.669G>A (p.Trp223Ter) c.387G>A (p.Trp129Ter) n.309G>A c.375G>A (p.Trp125Ter) n.876G>A | |
| 6 | g.35456167G>C | CA363773532 | FANCE | c.669G>C (p.Trp223Cys) c.387G>C (p.Trp129Cys) n.309G>C c.375G>C (p.Trp125Cys) n.876G>C | |
| 6 | g.35456167G>T | CA363773533 | FANCE | c.669G>T (p.Trp223Cys) c.387G>T (p.Trp129Cys) n.309G>T c.375G>T (p.Trp125Cys) n.876G>T | |
| 6 | g.35456168G>A | CA363773536 | FANCE | c.670G>A (p.Glu224Lys) c.388G>A (p.Glu130Lys) n.310G>A c.376G>A (p.Glu126Lys) n.877G>A | |
| 6 | g.35456168G>C | CA363773538 | FANCE | c.670G>C (p.Glu224Gln) c.388G>C (p.Glu130Gln) n.310G>C c.376G>C (p.Glu126Gln) n.877G>C | |
| 6 | g.35456168G>T | CA363773540 | FANCE | c.670G>T (p.Glu224Ter) c.388G>T (p.Glu130Ter) n.310G>T c.376G>T (p.Glu126Ter) n.877G>T | |
| 6 | g.35456169A>C | CA363773541 | FANCE | c.671A>C (p.Glu224Ala) c.389A>C (p.Glu130Ala) n.311A>C c.377A>C (p.Glu126Ala) n.878A>C | |
| 6 | g.35456169A>G | CA363773543 | FANCE | c.671A>G (p.Glu224Gly) c.389A>G (p.Glu130Gly) n.311A>G c.377A>G (p.Glu126Gly) n.878A>G | |
| 6 | g.35456169A>T | CA363773545 | FANCE | c.671A>T (p.Glu224Val) c.389A>T (p.Glu130Val) n.311A>T c.377A>T (p.Glu126Val) n.878A>T | |
| 6 | g.35456170A= | CA1620905588 | FANCE | c.672A= (p.Glu224=) c.390A= (p.Glu130=) n.312A= c.378A= (p.Glu126=) n.879A= | |
| 6 | g.35456170A>C | CA363773546 | FANCE | c.672A>C (p.Glu224Asp) c.390A>C (p.Glu130Asp) n.312A>C c.378A>C (p.Glu126Asp) n.879A>C | |
| 6 | g.35456170A>G | CA450123861 | FANCE | c.672A>G (p.Glu224=) c.390A>G (p.Glu130=) n.312A>G c.378A>G (p.Glu126=) n.879A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35456170A>T | CA363773547 | FANCE | c.672A>T (p.Glu224Asp) c.390A>T (p.Glu130Asp) n.312A>T c.378A>T (p.Glu126Asp) n.879A>T | dbSNP gnomAD v4 |
| 6 | g.35456171G>A | CA363773548 | FANCE | c.673G>A (p.Glu225Lys) c.391G>A (p.Glu131Lys) n.313G>A c.379G>A (p.Glu127Lys) n.880G>A | COSMIC |
| 6 | g.35456171G>C | CA363773549 | FANCE | c.673G>C (p.Glu225Gln) c.391G>C (p.Glu131Gln) n.313G>C c.379G>C (p.Glu127Gln) n.880G>C | |
| 6 | g.35456171G>T | CA363773550 | FANCE | c.673G>T (p.Glu225Ter) c.391G>T (p.Glu131Ter) n.313G>T c.379G>T (p.Glu127Ter) n.880G>T | |
| 6 | g.35456172A>C | CA363773551 | FANCE | c.674A>C (p.Glu225Ala) c.392A>C (p.Glu131Ala) n.314A>C c.380A>C (p.Glu127Ala) n.881A>C | |
| 6 | g.35456172A>G | CA363773552 | FANCE | c.674A>G (p.Glu225Gly) c.392A>G (p.Glu131Gly) n.314A>G c.380A>G (p.Glu127Gly) n.881A>G | gnomAD v4 |
| 6 | g.35456172A>T | CA363773553 | FANCE | c.674A>T (p.Glu225Val) c.392A>T (p.Glu131Val) n.314A>T c.380A>T (p.Glu127Val) n.881A>T | |
| 6 | g.35456176_35456193dup | CA2678405724 | FANCE | c.678_695dup (p.Glu232_Arg233insGluAspHisGluLysGlu) c.396_413dup (p.Glu138_Arg139insGluAspHisGluLysGlu) n.318_335dup c.384_401dup (p.Glu134_Arg135insGluAspHisGluLysGlu) n.885_902dup | gnomAD v4 |
| 6 | g.35456173G>A | CA450123862 | FANCE | c.675G>A (p.Glu225=) c.393G>A (p.Glu131=) n.315G>A c.381G>A (p.Glu127=) n.882G>A | gnomAD v4 |
| 6 | g.35456173G>C | CA363773554 | FANCE | c.675G>C (p.Glu225Asp) c.393G>C (p.Glu131Asp) n.315G>C c.381G>C (p.Glu127Asp) n.882G>C | |
| 6 | g.35456173G>T | CA363773555 | FANCE | c.675G>T (p.Glu225Asp) c.393G>T (p.Glu131Asp) n.315G>T c.381G>T (p.Glu127Asp) n.882G>T | |
| 6 | g.35456173_35456176delinsGGAA | CA1620905589 | FANCE | c.675_678delinsGGAA (p.Glu225=) c.393_396delinsGGAA (p.Glu131=) n.315_318delinsGGAA c.381_384delinsGGAA (p.Glu127=) n.882_885delinsGGAA | |
| 6 | g.35456174G>A | CA363773556 | FANCE | c.676G>A (p.Glu226Lys) c.394G>A (p.Glu132Lys) n.316G>A c.382G>A (p.Glu128Lys) n.883G>A | dbSNP |
| 6 | g.35456174G>C | CA363773557 | FANCE | c.676G>C (p.Glu226Gln) c.394G>C (p.Glu132Gln) n.316G>C c.382G>C (p.Glu128Gln) n.883G>C | gnomAD v4 |
| 6 | g.35456174G>T | CA363773558 | FANCE | c.676G>T (p.Glu226Ter) c.394G>T (p.Glu132Ter) n.316G>T c.382G>T (p.Glu128Ter) n.883G>T | |
| 6 | g.35456179_35456181del | CA3771463 | FANCE | c.681_683del (p.Glu227del) c.399_401del (p.Glu133del) n.321_323del c.387_389del (p.Glu129del) n.888_890del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35456175A>C | CA363773561 | FANCE | c.677A>C (p.Glu226Ala) c.395A>C (p.Glu132Ala) n.317A>C c.383A>C (p.Glu128Ala) n.884A>C | ClinVar dbSNP |
| 6 | g.35456175A>G | CA363773559 | FANCE | c.677A>G (p.Glu226Gly) c.395A>G (p.Glu132Gly) n.317A>G c.383A>G (p.Glu128Gly) n.884A>G | |
| 6 | g.35456175A>T | CA363773560 | FANCE | c.677A>T (p.Glu226Val) c.395A>T (p.Glu132Val) n.317A>T c.383A>T (p.Glu128Val) n.884A>T | |
| 6 | g.35456176A>C | CA363773562 | FANCE | c.678A>C (p.Glu226Asp) c.396A>C (p.Glu132Asp) n.318A>C c.384A>C (p.Glu128Asp) n.885A>C | gnomAD v4 |
| 6 | g.35456176A>G | CA450123863 | FANCE | c.678A>G (p.Glu226=) c.396A>G (p.Glu132=) n.318A>G c.384A>G (p.Glu128=) n.885A>G | |
| 6 | g.35456176A>T | CA363773563 | FANCE | c.678A>T (p.Glu226Asp) c.396A>T (p.Glu132Asp) n.318A>T c.384A>T (p.Glu128Asp) n.885A>T | |
| 6 | g.35456177G>A | CA363773564 | FANCE | c.679G>A (p.Glu227Lys) c.397G>A (p.Glu133Lys) n.319G>A c.385G>A (p.Glu129Lys) n.886G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35456177G>C | CA363773565 | FANCE | c.679G>C (p.Glu227Gln) c.397G>C (p.Glu133Gln) n.319G>C c.385G>C (p.Glu129Gln) n.886G>C | |
| 6 | g.35456177G= | CA1620905590 | FANCE | c.679G= (p.Glu227=) c.397G= (p.Glu133=) n.319G= c.385G= (p.Glu129=) n.886G= | |
| 6 | g.35456177G>T | CA363773566 | FANCE | c.679G>T (p.Glu227Ter) c.397G>T (p.Glu133Ter) n.319G>T c.385G>T (p.Glu129Ter) n.886G>T | |
| 6 | g.35456178A>C | CA363773567 | FANCE | c.680A>C (p.Glu227Ala) c.398A>C (p.Glu133Ala) n.320A>C c.386A>C (p.Glu129Ala) n.887A>C | |
| 6 | g.35456178A>G | CA363773568 | FANCE | c.680A>G (p.Glu227Gly) c.398A>G (p.Glu133Gly) n.320A>G c.386A>G (p.Glu129Gly) n.887A>G | gnomAD v4 |
| 6 | g.35456178A>T | CA363773569 | FANCE | c.680A>T (p.Glu227Val) c.398A>T (p.Glu133Val) n.320A>T c.386A>T (p.Glu129Val) n.887A>T | |
| 6 | g.35456179A>C | CA363773570 | FANCE | c.681A>C (p.Glu227Asp) c.399A>C (p.Glu133Asp) n.321A>C c.387A>C (p.Glu129Asp) n.888A>C | |
| 6 | g.35456179A>G | CA450123864 | FANCE | c.681A>G (p.Glu227=) c.399A>G (p.Glu133=) n.321A>G c.387A>G (p.Glu129=) n.888A>G | |
| 6 | g.35456179A>T | CA363773571 | FANCE | c.681A>T (p.Glu227Asp) c.399A>T (p.Glu133Asp) n.321A>T c.387A>T (p.Glu129Asp) n.888A>T | |
| 6 | g.35456180G>A | CA363773573 | FANCE | c.682G>A (p.Asp228Asn) c.400G>A (p.Asp134Asn) n.322G>A c.388G>A (p.Asp130Asn) n.889G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35456180G>C | CA363773574 | FANCE | c.682G>C (p.Asp228His) c.400G>C (p.Asp134His) n.322G>C c.388G>C (p.Asp130His) n.889G>C | |
| 6 | g.35456180G= | CA1620905591 | FANCE | c.682G= (p.Asp228=) c.400G= (p.Asp134=) n.322G= c.388G= (p.Asp130=) n.889G= | |
| 6 | g.35456180G>T | CA363773572 | FANCE | c.682G>T (p.Asp228Tyr) c.400G>T (p.Asp134Tyr) n.322G>T c.388G>T (p.Asp130Tyr) n.889G>T | gnomAD v4 |
| 6 | g.35456181A>C | CA363773577 | FANCE | c.683A>C (p.Asp228Ala) c.401A>C (p.Asp134Ala) n.323A>C c.389A>C (p.Asp130Ala) n.890A>C | |
| 6 | g.35456181A>G | CA363773575 | FANCE | c.683A>G (p.Asp228Gly) c.401A>G (p.Asp134Gly) n.323A>G c.389A>G (p.Asp130Gly) n.890A>G | dbSNP |
| 6 | g.35456181A>T | CA363773576 | FANCE | c.683A>T (p.Asp228Val) c.401A>T (p.Asp134Val) n.323A>T c.389A>T (p.Asp130Val) n.890A>T | |
| 6 | g.35456182T>A | CA363773578 | FANCE | c.684T>A (p.Asp228Glu) c.402T>A (p.Asp134Glu) n.324T>A c.390T>A (p.Asp130Glu) n.891T>A | dbSNP |
| 6 | g.35456182T>C | CA450123865 | FANCE | c.684T>C (p.Asp228=) c.402T>C (p.Asp134=) n.324T>C c.390T>C (p.Asp130=) n.891T>C | |
| 6 | g.35456182T>G | CA363773579 | FANCE | c.684T>G (p.Asp228Glu) c.402T>G (p.Asp134Glu) n.324T>G c.390T>G (p.Asp130Glu) n.891T>G | |
| 6 | g.35456183C>A | CA363773580 | FANCE | c.685C>A (p.His229Asn) c.403C>A (p.His135Asn) n.325C>A c.391C>A (p.His131Asn) n.892C>A | |
| 6 | g.35456183C= | CA1620905592 | FANCE | c.685C= (p.His229=) c.403C= (p.His135=) n.325C= c.391C= (p.His131=) n.892C= | |
| 6 | g.35456183C>G | CA363773581 | FANCE | c.685C>G (p.His229Asp) c.403C>G (p.His135Asp) n.325C>G c.391C>G (p.His131Asp) n.892C>G | dbSNP gnomAD v4 |
| 6 | g.35456183C>T | CA3771464 | FANCE | c.685C>T (p.His229Tyr) c.403C>T (p.His135Tyr) n.325C>T c.391C>T (p.His131Tyr) n.892C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35456184A>C | CA363773582 | FANCE | c.686A>C (p.His229Pro) c.404A>C (p.His135Pro) n.326A>C c.392A>C (p.His131Pro) n.893A>C | gnomAD v4 |
| 6 | g.35456184A>G | CA363773583 | FANCE | c.686A>G (p.His229Arg) c.404A>G (p.His135Arg) n.326A>G c.392A>G (p.His131Arg) n.893A>G | |
| 6 | g.35456184A>T | CA363773584 | FANCE | c.686A>T (p.His229Leu) c.404A>T (p.His135Leu) n.326A>T c.392A>T (p.His131Leu) n.893A>T | |
| 6 | g.35456185T>A | CA363773585 | FANCE | c.687T>A (p.His229Gln) c.405T>A (p.His135Gln) n.327T>A c.393T>A (p.His131Gln) n.894T>A | |
| 6 | g.35456185T>C | CA450123866 | FANCE | c.687T>C (p.His229=) c.405T>C (p.His135=) n.327T>C c.393T>C (p.His131=) n.894T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35456185T>G | CA363773586 | FANCE | c.687T>G (p.His229Gln) c.405T>G (p.His135Gln) n.327T>G c.393T>G (p.His131Gln) n.894T>G | |
| 6 | g.35456185T= | CA1620905593 | FANCE | c.687T= (p.His229=) c.405T= (p.His135=) n.327T= c.393T= (p.His131=) n.894T= |