| 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.35455853C>A | CA363772739 | FANCE | c.355C>A (p.Gln119Lys) c.73C>A (p.Gln25Lys) c.61C>A (p.Gln21Lys) n.562C>A | |
| 6 | g.35455853C= | CA1620905445 | FANCE | c.355C= (p.Gln119=) c.73C= (p.Gln25=) c.61C= (p.Gln21=) n.562C= | |
| 6 | g.35455853C>G | CA363772740 | FANCE | c.355C>G (p.Gln119Glu) c.73C>G (p.Gln25Glu) c.61C>G (p.Gln21Glu) n.562C>G | |
| 6 | g.35455853C>T | CA254528 | FANCE | c.355C>T (p.Gln119Ter) c.73C>T (p.Gln25Ter) c.61C>T (p.Gln21Ter) n.562C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455854A= | CA1620905446 | FANCE | c.356A= (p.Gln119=) c.74A= (p.Gln25=) c.62A= (p.Gln21=) n.563A= | |
| 6 | g.35455854A>C | CA137294496 | FANCE | c.356A>C (p.Gln119Pro) c.74A>C (p.Gln25Pro) c.62A>C (p.Gln21Pro) n.563A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455854A>G | CA363772741 | FANCE | c.356A>G (p.Gln119Arg) c.74A>G (p.Gln25Arg) c.62A>G (p.Gln21Arg) n.563A>G | |
| 6 | g.35455854A>T | CA363772742 | FANCE | c.356A>T (p.Gln119Leu) c.74A>T (p.Gln25Leu) c.62A>T (p.Gln21Leu) n.563A>T | |
| 6 | g.35455855G>A | CA449942386 | FANCE | c.357G>A (p.Gln119=) c.75G>A (p.Gln25=) c.63G>A (p.Gln21=) n.564G>A | |
| 6 | g.35455855G>C | CA363772743 | FANCE | c.357G>C (p.Gln119His) c.75G>C (p.Gln25His) c.63G>C (p.Gln21His) n.564G>C | |
| 6 | g.35455855G>T | CA363772744 | FANCE | c.357G>T (p.Gln119His) c.75G>T (p.Gln25His) c.63G>T (p.Gln21His) n.564G>T | |
| 6 | g.35455856A= | CA1620905447 | FANCE | c.358A= (p.Ile120=) c.76A= (p.Ile26=) c.64A= (p.Ile22=) n.565A= | |
| 6 | g.35455856A>C | CA363772745 | FANCE | c.358A>C (p.Ile120Leu) c.76A>C (p.Ile26Leu) c.64A>C (p.Ile22Leu) n.565A>C | |
| 6 | g.35455856A>G | CA3771395 | FANCE | c.358A>G (p.Ile120Val) c.76A>G (p.Ile26Val) c.64A>G (p.Ile22Val) n.565A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455856A>T | CA363772746 | FANCE | c.358A>T (p.Ile120Phe) c.76A>T (p.Ile26Phe) c.64A>T (p.Ile22Phe) n.565A>T | |
| 6 | g.35455857T>A | CA363772747 | FANCE | c.359T>A (p.Ile120Asn) c.77T>A (p.Ile26Asn) c.65T>A (p.Ile22Asn) n.566T>A | |
| 6 | g.35455857T>C | CA363772748 | FANCE | c.359T>C (p.Ile120Thr) c.77T>C (p.Ile26Thr) c.65T>C (p.Ile22Thr) n.566T>C | |
| 6 | g.35455857T>G | CA363772749 | FANCE | c.359T>G (p.Ile120Ser) c.77T>G (p.Ile26Ser) c.65T>G (p.Ile22Ser) n.566T>G | |
| 6 | g.35455858T>A | CA449942388 | FANCE | c.360T>A (p.Ile120=) c.78T>A (p.Ile26=) c.66T>A (p.Ile22=) n.567T>A | |
| 6 | g.35455858T>C | CA449942389 | FANCE | c.360T>C (p.Ile120=) c.78T>C (p.Ile26=) c.66T>C (p.Ile22=) n.567T>C | |
| 6 | g.35455858T>G | CA363772750 | FANCE | c.360T>G (p.Ile120Met) c.78T>G (p.Ile26Met) c.66T>G (p.Ile22Met) n.567T>G | |
| 6 | g.35455859G>A | CA363772752 | FANCE | c.361G>A (p.Ala121Thr) c.79G>A (p.Ala27Thr) n.1G>A c.67G>A (p.Ala23Thr) n.568G>A | dbSNP |
| 6 | g.35455859G>C | CA363772751 | FANCE | c.361G>C (p.Ala121Pro) c.79G>C (p.Ala27Pro) n.1G>C c.67G>C (p.Ala23Pro) n.568G>C | |
| 6 | g.35455859G>T | CA363772753 | FANCE | c.361G>T (p.Ala121Ser) c.79G>T (p.Ala27Ser) n.1G>T c.67G>T (p.Ala23Ser) n.568G>T | |
| 6 | g.35455860C>A | CA363772754 | FANCE | c.362C>A (p.Ala121Asp) c.80C>A (p.Ala27Asp) n.2C>A c.68C>A (p.Ala23Asp) n.569C>A | |
| 6 | g.35455860C= | CA1620905448 | FANCE | c.362C= (p.Ala121=) c.80C= (p.Ala27=) n.2C= c.68C= (p.Ala23=) n.569C= | |
| 6 | g.35455860C>G | CA363772755 | FANCE | c.362C>G (p.Ala121Gly) c.80C>G (p.Ala27Gly) n.2C>G c.68C>G (p.Ala23Gly) n.569C>G | |
| 6 | g.35455860C>T | CA363772756 | FANCE | c.362C>T (p.Ala121Val) c.80C>T (p.Ala27Val) n.2C>T c.68C>T (p.Ala23Val) n.569C>T | dbSNP gnomAD v4 |
| 6 | g.35455861C>A | CA449942390 | FANCE | c.363C>A (p.Ala121=) c.81C>A (p.Ala27=) n.3C>A c.69C>A (p.Ala23=) n.570C>A | |
| 6 | g.35455861C>G | CA449942391 | FANCE | c.363C>G (p.Ala121=) c.81C>G (p.Ala27=) n.3C>G c.69C>G (p.Ala23=) n.570C>G | ClinVar |
| 6 | g.35455861C>T | CA449942392 | FANCE | c.363C>T (p.Ala121=) c.81C>T (p.Ala27=) n.3C>T c.69C>T (p.Ala23=) n.570C>T | |
| 6 | g.35455862C>A | CA363772757 | FANCE | c.364C>A (p.Gln122Lys) c.82C>A (p.Gln28Lys) n.4C>A c.70C>A (p.Gln24Lys) n.571C>A | |
| 6 | g.35455862C>G | CA363772758 | FANCE | c.364C>G (p.Gln122Glu) c.82C>G (p.Gln28Glu) n.4C>G c.70C>G (p.Gln24Glu) n.571C>G | gnomAD v4 |
| 6 | g.35455862C>T | CA363772759 | FANCE | c.364C>T (p.Gln122Ter) c.82C>T (p.Gln28Ter) n.4C>T c.70C>T (p.Gln24Ter) n.571C>T | gnomAD v4 |
| 6 | g.35455863A= | CA1620905449 | FANCE | c.365A= (p.Gln122=) c.83A= (p.Gln28=) n.5A= c.71A= (p.Gln24=) n.572A= | |
| 6 | g.35455863A>C | CA363772760 | FANCE | c.365A>C (p.Gln122Pro) c.83A>C (p.Gln28Pro) n.5A>C c.71A>C (p.Gln24Pro) n.572A>C | |
| 6 | g.35455863A>G | CA363772761 | FANCE | c.365A>G (p.Gln122Arg) c.83A>G (p.Gln28Arg) n.5A>G c.71A>G (p.Gln24Arg) n.572A>G | |
| 6 | g.35455863A>T | CA363772762 | FANCE | c.365A>T (p.Gln122Leu) c.83A>T (p.Gln28Leu) n.5A>T c.71A>T (p.Gln24Leu) n.572A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35455864G>A | CA449942394 | FANCE | c.366G>A (p.Gln122=) c.84G>A (p.Gln28=) n.6G>A c.72G>A (p.Gln24=) n.573G>A | dbSNP |
| 6 | g.35455864G>C | CA363772763 | FANCE | c.366G>C (p.Gln122His) c.84G>C (p.Gln28His) n.6G>C c.72G>C (p.Gln24His) n.573G>C | |
| 6 | g.35455864G>T | CA363772764 | FANCE | c.366G>T (p.Gln122His) c.84G>T (p.Gln28His) n.6G>T c.72G>T (p.Gln24His) n.573G>T | |
| 6 | g.35455865C>A | CA363772767 | FANCE | c.367C>A (p.Gln123Lys) c.85C>A (p.Gln29Lys) n.7C>A c.73C>A (p.Gln25Lys) n.574C>A | dbSNP |
| 6 | g.35455865C= | CA1620905450 | FANCE | c.367C= (p.Gln123=) c.85C= (p.Gln29=) n.7C= c.73C= (p.Gln25=) n.574C= | |
| 6 | g.35455865C>G | CA363772766 | FANCE | c.367C>G (p.Gln123Glu) c.85C>G (p.Gln29Glu) n.7C>G c.73C>G (p.Gln25Glu) n.574C>G | |
| 6 | g.35455865C>T | CA363772765 | FANCE | c.367C>T (p.Gln123Ter) c.85C>T (p.Gln29Ter) n.7C>T c.73C>T (p.Gln25Ter) n.574C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455866A>C | CA363772768 | FANCE | c.368A>C (p.Gln123Pro) c.86A>C (p.Gln29Pro) n.8A>C c.74A>C (p.Gln25Pro) n.575A>C | |
| 6 | g.35455866A>G | CA363772769 | FANCE | c.368A>G (p.Gln123Arg) c.86A>G (p.Gln29Arg) n.8A>G c.74A>G (p.Gln25Arg) n.575A>G | gnomAD v4 |
| 6 | g.35455866A>T | CA363772770 | FANCE | c.368A>T (p.Gln123Leu) c.86A>T (p.Gln29Leu) n.8A>T c.74A>T (p.Gln25Leu) n.575A>T | |
| 6 | g.35455867G>A | CA449942397 | FANCE | c.369G>A (p.Gln123=) c.87G>A (p.Gln29=) n.9G>A c.75G>A (p.Gln25=) n.576G>A | |
| 6 | g.35455867G>C | CA363772771 | FANCE | c.369G>C (p.Gln123His) c.87G>C (p.Gln29His) n.9G>C c.75G>C (p.Gln25His) n.576G>C | |
| 6 | g.35455867G>T | CA363772772 | FANCE | c.369G>T (p.Gln123His) c.87G>T (p.Gln29His) n.9G>T c.75G>T (p.Gln25His) n.576G>T | |
| 6 | g.35455868G>A | CA363772773 | FANCE | c.370G>A (p.Asp124Asn) c.88G>A (p.Asp30Asn) n.10G>A c.76G>A (p.Asp26Asn) n.577G>A | gnomAD v4 |
| 6 | g.35455868G>C | CA363772774 | FANCE | c.370G>C (p.Asp124His) c.88G>C (p.Asp30His) n.10G>C c.76G>C (p.Asp26His) n.577G>C | dbSNP |
| 6 | g.35455868G= | CA1620905451 | FANCE | c.370G= (p.Asp124=) c.88G= (p.Asp30=) n.10G= c.76G= (p.Asp26=) n.577G= | |
| 6 | g.35455868G>T | CA363772775 | FANCE | c.370G>T (p.Asp124Tyr) c.88G>T (p.Asp30Tyr) n.10G>T c.76G>T (p.Asp26Tyr) n.577G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455869A= | CA1620905452 | FANCE | c.371A= (p.Asp124=) c.89A= (p.Asp30=) n.11A= c.77A= (p.Asp26=) n.578A= | |
| 6 | g.35455869A>C | CA363772776 | FANCE | c.371A>C (p.Asp124Ala) c.89A>C (p.Asp30Ala) n.11A>C c.77A>C (p.Asp26Ala) n.578A>C | dbSNP |
| 6 | g.35455869A>G | CA363772777 | FANCE | c.371A>G (p.Asp124Gly) c.89A>G (p.Asp30Gly) n.11A>G c.77A>G (p.Asp26Gly) n.578A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455869A>T | CA363772778 | FANCE | c.371A>T (p.Asp124Val) c.89A>T (p.Asp30Val) n.11A>T c.77A>T (p.Asp26Val) n.578A>T | |
| 6 | g.35455870C>A | CA363772779 | FANCE | c.372C>A (p.Asp124Glu) c.90C>A (p.Asp30Glu) n.12C>A c.78C>A (p.Asp26Glu) n.579C>A | |
| 6 | g.35455870C>G | CA363772780 | FANCE | c.372C>G (p.Asp124Glu) c.90C>G (p.Asp30Glu) n.12C>G c.78C>G (p.Asp26Glu) n.579C>G | |
| 6 | g.35455870C>T | CA449942401 | FANCE | c.372C>T (p.Asp124=) c.90C>T (p.Asp30=) n.12C>T c.78C>T (p.Asp26=) n.579C>T | dbSNP |
| 6 | g.35455871C>A | CA363772781 | FANCE | c.373C>A (p.Leu125Ile) c.91C>A (p.Leu31Ile) n.13C>A c.79C>A (p.Leu27Ile) n.580C>A | |
| 6 | g.35455871C= | CA1620905453 | FANCE | c.373C= (p.Leu125=) c.91C= (p.Leu31=) n.13C= c.79C= (p.Leu27=) n.580C= | |
| 6 | g.35455871C>G | CA3771396 | FANCE | c.373C>G (p.Leu125Val) c.91C>G (p.Leu31Val) n.13C>G c.79C>G (p.Leu27Val) n.580C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35455871C>T | CA449942405 | FANCE | c.373C>T (p.Leu125=) c.91C>T (p.Leu31=) n.13C>T c.79C>T (p.Leu27=) n.580C>T | ClinVar gnomAD v4 |
| 6 | g.35455872T>A | CA363772782 | FANCE | c.374T>A (p.Leu125Gln) c.92T>A (p.Leu31Gln) n.14T>A c.80T>A (p.Leu27Gln) n.581T>A | |
| 6 | g.35455872T>C | CA363772783 | FANCE | c.374T>C (p.Leu125Pro) c.92T>C (p.Leu31Pro) n.14T>C c.80T>C (p.Leu27Pro) n.581T>C | |
| 6 | g.35455872T>G | CA363772784 | FANCE | c.374T>G (p.Leu125Arg) c.92T>G (p.Leu31Arg) n.14T>G c.80T>G (p.Leu27Arg) n.581T>G | |
| 6 | g.35455872T= | CA1620905454 | FANCE | c.374T= (p.Leu125=) c.92T= (p.Leu31=) n.14T= c.80T= (p.Leu27=) n.581T= | |
| 6 | g.35455873A>C | CA449942406 | FANCE | c.375A>C (p.Leu125=) c.93A>C (p.Leu31=) n.15A>C c.81A>C (p.Leu27=) n.582A>C | |
| 6 | g.35455873A>G | CA449942407 | FANCE | c.375A>G (p.Leu125=) c.93A>G (p.Leu31=) n.15A>G c.81A>G (p.Leu27=) n.582A>G | |
| 6 | g.35455873A>T | CA449942408 | FANCE | c.375A>T (p.Leu125=) c.93A>T (p.Leu31=) n.15A>T c.81A>T (p.Leu27=) n.582A>T | |
| 6 | g.35455873_35455877dup | CA1620905455 | FANCE | c.375_379dup (p.Pro127GlnfsTer?) c.93_97dup (p.Pro33GlnfsTer?) n.15_19dup c.81_85dup (p.Pro29GlnfsTer?) n.582_586dup | dbSNP |
| 6 | g.35455874G>A | CA363772785 | FANCE | c.376G>A (p.Ala126Thr) c.94G>A (p.Ala32Thr) n.16G>A c.82G>A (p.Ala28Thr) n.583G>A | |
| 6 | g.35455874G>C | CA363772786 | FANCE | c.376G>C (p.Ala126Pro) c.94G>C (p.Ala32Pro) n.16G>C c.82G>C (p.Ala28Pro) n.583G>C | |
| 6 | g.35455874G>T | CA363772787 | FANCE | c.376G>T (p.Ala126Ser) c.94G>T (p.Ala32Ser) n.16G>T c.82G>T (p.Ala28Ser) n.583G>T | |
| 6 | g.35455875C>A | CA3771397 | FANCE | c.377C>A (p.Ala126Asp) c.95C>A (p.Ala32Asp) n.17C>A c.83C>A (p.Ala28Asp) n.584C>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.35455875C= | CA1620905456 | FANCE | c.377C= (p.Ala126=) c.95C= (p.Ala32=) n.17C= c.83C= (p.Ala28=) n.584C= | |
| 6 | g.35455875C>G | CA363772788 | FANCE | c.377C>G (p.Ala126Gly) c.95C>G (p.Ala32Gly) n.17C>G c.83C>G (p.Ala28Gly) n.584C>G | |
| 6 | g.35455875C>T | CA363772789 | FANCE | c.377C>T (p.Ala126Val) c.95C>T (p.Ala32Val) n.17C>T c.83C>T (p.Ala28Val) n.584C>T | dbSNP COSMIC |
| 6 | g.35455876C>A | CA449942410 | FANCE | c.378C>A (p.Ala126=) c.96C>A (p.Ala32=) n.18C>A c.84C>A (p.Ala28=) n.585C>A | |
| 6 | g.35455876C>G | CA449942411 | FANCE | c.378C>G (p.Ala126=) c.96C>G (p.Ala32=) n.18C>G c.84C>G (p.Ala28=) n.585C>G | dbSNP |
| 6 | g.35455876C>T | CA449942413 | FANCE | c.378C>T (p.Ala126=) c.96C>T (p.Ala32=) n.18C>T c.84C>T (p.Ala28=) n.585C>T | gnomAD v4 |
| 6 | g.35455877C>A | CA363772790 | FANCE | c.379C>A (p.Pro127Thr) c.97C>A (p.Pro33Thr) n.19C>A c.85C>A (p.Pro29Thr) n.586C>A | |
| 6 | g.35455877C>G | CA363772791 | FANCE | c.379C>G (p.Pro127Ala) c.97C>G (p.Pro33Ala) n.19C>G c.85C>G (p.Pro29Ala) n.586C>G | ClinVar gnomAD v4 |
| 6 | g.35455877C>T | CA363772792 | FANCE | c.379C>T (p.Pro127Ser) c.97C>T (p.Pro33Ser) n.19C>T c.85C>T (p.Pro29Ser) n.586C>T | gnomAD v4 |
| 6 | g.35455878C>A | CA363772794 | FANCE | c.380C>A (p.Pro127His) c.98C>A (p.Pro33His) n.20C>A c.86C>A (p.Pro29His) n.587C>A | |
| 6 | g.35455878C>G | CA363772795 | FANCE | c.380C>G (p.Pro127Arg) c.98C>G (p.Pro33Arg) n.20C>G c.86C>G (p.Pro29Arg) n.587C>G | |
| 6 | g.35455878C>T | CA363772793 | FANCE | c.380C>T (p.Pro127Leu) c.98C>T (p.Pro33Leu) n.20C>T c.86C>T (p.Pro29Leu) n.587C>T | |
| 6 | g.35455879T>A | CA449942414 | FANCE | c.381T>A (p.Pro127=) c.99T>A (p.Pro33=) n.21T>A c.87T>A (p.Pro29=) n.588T>A | |
| 6 | g.35455879T>C | CA449942415 | FANCE | c.381T>C (p.Pro127=) c.99T>C (p.Pro33=) n.21T>C c.87T>C (p.Pro29=) n.588T>C | dbSNP gnomAD v4 |
| 6 | g.35455879T>G | CA449942416 | FANCE | c.381T>G (p.Pro127=) c.99T>G (p.Pro33=) n.21T>G c.87T>G (p.Pro29=) n.588T>G | |
| 6 | g.35455880G>A | CA363772796 | FANCE | c.382G>A (p.Asp128Asn) c.100G>A (p.Asp34Asn) n.22G>A c.88G>A (p.Asp30Asn) n.589G>A | |
| 6 | g.35455880G>C | CA137294506 | FANCE | c.382G>C (p.Asp128His) c.100G>C (p.Asp34His) n.22G>C c.88G>C (p.Asp30His) n.589G>C | dbSNP |
| 6 | g.35455880G= | CA1620905457 | FANCE | c.382G= (p.Asp128=) c.100G= (p.Asp34=) n.22G= c.88G= (p.Asp30=) n.589G= | |
| 6 | g.35455880G>T | CA363772797 | FANCE | c.382G>T (p.Asp128Tyr) c.100G>T (p.Asp34Tyr) n.22G>T c.88G>T (p.Asp30Tyr) n.589G>T | |
| 6 | g.35455881A>C | CA363772798 | FANCE | c.383A>C (p.Asp128Ala) c.101A>C (p.Asp34Ala) n.23A>C c.89A>C (p.Asp30Ala) n.590A>C | |
| 6 | g.35455881A>G | CA363772799 | FANCE | c.383A>G (p.Asp128Gly) c.101A>G (p.Asp34Gly) n.23A>G c.89A>G (p.Asp30Gly) n.590A>G | |
| 6 | g.35455881A>T | CA363772800 | FANCE | c.383A>T (p.Asp128Val) c.101A>T (p.Asp34Val) n.23A>T c.89A>T (p.Asp30Val) n.590A>T | |
| 6 | g.35455882C>A | CA363772801 | FANCE | c.384C>A (p.Asp128Glu) c.102C>A (p.Asp34Glu) n.24C>A c.90C>A (p.Asp30Glu) n.591C>A | dbSNP |
| 6 | g.35455882C>G | CA363772802 | FANCE | c.384C>G (p.Asp128Glu) c.102C>G (p.Asp34Glu) n.24C>G c.90C>G (p.Asp30Glu) n.591C>G | |
| 6 | g.35455882C>T | CA449942417 | FANCE | c.384C>T (p.Asp128=) c.102C>T (p.Asp34=) n.24C>T c.90C>T (p.Asp30=) n.591C>T | |
| 6 | g.35455883C>A | CA363772803 | FANCE | c.385C>A (p.Pro129Thr) c.103C>A (p.Pro35Thr) n.25C>A c.91C>A (p.Pro31Thr) n.592C>A | |
| 6 | g.35455883C>G | CA363772804 | FANCE | c.385C>G (p.Pro129Ala) c.103C>G (p.Pro35Ala) n.25C>G c.91C>G (p.Pro31Ala) n.592C>G | |
| 6 | g.35455883C>T | CA363772805 | FANCE | c.385C>T (p.Pro129Ser) c.103C>T (p.Pro35Ser) n.25C>T c.91C>T (p.Pro31Ser) n.592C>T | COSMIC |
| 6 | g.35455884C>A | CA363772806 | FANCE | c.386C>A (p.Pro129Gln) c.104C>A (p.Pro35Gln) n.26C>A c.92C>A (p.Pro31Gln) n.593C>A | |
| 6 | g.35455884C>G | CA363772807 | FANCE | c.386C>G (p.Pro129Arg) c.104C>G (p.Pro35Arg) n.26C>G c.92C>G (p.Pro31Arg) n.593C>G | |
| 6 | g.35455884C>T | CA363772808 | FANCE | c.386C>T (p.Pro129Leu) c.104C>T (p.Pro35Leu) n.26C>T c.92C>T (p.Pro31Leu) n.593C>T | |
| 6 | g.35455885A= | CA1620905458 | FANCE | c.387A= (p.Pro129=) c.105A= (p.Pro35=) n.27A= c.93A= (p.Pro31=) n.594A= | |
| 6 | g.35455885A>C | CA3771398 | FANCE | c.387A>C (p.Pro129=) c.105A>C (p.Pro35=) n.27A>C c.93A>C (p.Pro31=) n.594A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455885A>G | CA449942422 | FANCE | c.387A>G (p.Pro129=) c.105A>G (p.Pro35=) n.27A>G c.93A>G (p.Pro31=) n.594A>G | dbSNP |
| 6 | g.35455885A>T | CA3771399 | FANCE | c.387A>T (p.Pro129=) c.105A>T (p.Pro35=) n.27A>T c.93A>T (p.Pro31=) n.594A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455885_35455886delinsCC | CA2573140313 | FANCE | c.387_388delinsCC (p.Asp130His) c.105_106delinsCC (p.Asp36His) n.27_28delinsCC c.93_94delinsCC (p.Asp32His) n.594_595delinsCC | ClinVar dbSNP |
| 6 | g.35455886G>A | CA137294523 | FANCE | c.388G>A (p.Asp130Asn) c.106G>A (p.Asp36Asn) n.28G>A c.94G>A (p.Asp32Asn) n.595G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455886G>C | CA3771400 | FANCE | c.388G>C (p.Asp130His) c.106G>C (p.Asp36His) n.28G>C c.94G>C (p.Asp32His) n.595G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455886G= | CA1620905459 | FANCE | c.388G= (p.Asp130=) c.106G= (p.Asp36=) n.28G= c.94G= (p.Asp32=) n.595G= | |
| 6 | g.35455886G>T | CA363772809 | FANCE | c.388G>T (p.Asp130Tyr) c.106G>T (p.Asp36Tyr) n.28G>T c.94G>T (p.Asp32Tyr) n.595G>T | |
| 6 | g.35455887A>C | CA363772810 | FANCE | c.389A>C (p.Asp130Ala) c.107A>C (p.Asp36Ala) n.29A>C c.95A>C (p.Asp32Ala) n.596A>C | |
| 6 | g.35455887A>G | CA363772811 | FANCE | c.389A>G (p.Asp130Gly) c.107A>G (p.Asp36Gly) n.29A>G c.95A>G (p.Asp32Gly) n.596A>G | |
| 6 | g.35455887A>T | CA363772812 | FANCE | c.389A>T (p.Asp130Val) c.107A>T (p.Asp36Val) n.29A>T c.95A>T (p.Asp32Val) n.596A>T | |
| 6 | g.35455888T>A | CA363772813 | FANCE | c.390T>A (p.Asp130Glu) c.108T>A (p.Asp36Glu) n.30T>A c.96T>A (p.Asp32Glu) n.597T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455888T>C | CA449942424 | FANCE | c.390T>C (p.Asp130=) c.108T>C (p.Asp36=) n.30T>C c.96T>C (p.Asp32=) n.597T>C | gnomAD v4 |
| 6 | g.35455888T>G | CA363772814 | FANCE | c.390T>G (p.Asp130Glu) c.108T>G (p.Asp36Glu) n.30T>G c.96T>G (p.Asp32Glu) n.597T>G | |
| 6 | g.35455888T= | CA1620905460 | FANCE | c.390T= (p.Asp130=) c.108T= (p.Asp36=) n.30T= c.96T= (p.Asp32=) n.597T= | |
| 6 | g.35455889G>A | CA363772817 | FANCE | c.391G>A (p.Ala131Thr) c.109G>A (p.Ala37Thr) n.31G>A c.97G>A (p.Ala33Thr) n.598G>A | |
| 6 | g.35455889G>C | CA363772815 | FANCE | c.391G>C (p.Ala131Pro) c.109G>C (p.Ala37Pro) n.31G>C c.97G>C (p.Ala33Pro) n.598G>C | |
| 6 | g.35455889G>T | CA363772816 | FANCE | c.391G>T (p.Ala131Ser) c.109G>T (p.Ala37Ser) n.31G>T c.97G>T (p.Ala33Ser) n.598G>T | |
| 6 | g.35455890C>A | CA363772818 | FANCE | c.392C>A (p.Ala131Asp) c.110C>A (p.Ala37Asp) n.32C>A c.98C>A (p.Ala33Asp) n.599C>A | gnomAD v4 |
| 6 | g.35455890C= | CA1620905461 | FANCE | c.392C= (p.Ala131=) c.110C= (p.Ala37=) n.32C= c.98C= (p.Ala33=) n.599C= | |
| 6 | g.35455890C>G | CA363772819 | FANCE | c.392C>G (p.Ala131Gly) c.110C>G (p.Ala37Gly) n.32C>G c.98C>G (p.Ala33Gly) n.599C>G | gnomAD v4 |
| 6 | g.35455890C>T | CA363772820 | FANCE | c.392C>T (p.Ala131Val) c.110C>T (p.Ala37Val) n.32C>T c.98C>T (p.Ala33Val) n.599C>T | dbSNP gnomAD v2 |
| 6 | g.35455891C>A | CA449942427 | FANCE | c.393C>A (p.Ala131=) c.111C>A (p.Ala37=) n.33C>A c.99C>A (p.Ala33=) n.600C>A | dbSNP |
| 6 | g.35455891C>G | CA449942429 | FANCE | c.393C>G (p.Ala131=) c.111C>G (p.Ala37=) n.33C>G c.99C>G (p.Ala33=) n.600C>G | |
| 6 | g.35455891C>T | CA449942428 | FANCE | c.393C>T (p.Ala131=) c.111C>T (p.Ala37=) n.33C>T c.99C>T (p.Ala33=) n.600C>T | |
| 6 | g.35455892T>A | CA363772821 | FANCE | c.394T>A (p.Trp132Arg) c.112T>A (p.Trp38Arg) n.34T>A c.100T>A (p.Trp34Arg) n.601T>A | |
| 6 | g.35455892T>C | CA363772822 | FANCE | c.394T>C (p.Trp132Arg) c.112T>C (p.Trp38Arg) n.34T>C c.100T>C (p.Trp34Arg) n.601T>C | |
| 6 | g.35455892T>G | CA363772823 | FANCE | c.394T>G (p.Trp132Gly) c.112T>G (p.Trp38Gly) n.34T>G c.100T>G (p.Trp34Gly) n.601T>G | |
| 6 | g.35455893G>A | CA363772824 | FANCE | c.395G>A (p.Trp132Ter) c.113G>A (p.Trp38Ter) n.35G>A c.101G>A (p.Trp34Ter) n.602G>A | |
| 6 | g.35455893G>C | CA363772826 | FANCE | c.395G>C (p.Trp132Ser) c.113G>C (p.Trp38Ser) n.35G>C c.101G>C (p.Trp34Ser) n.602G>C | |
| 6 | g.35455893G>T | CA363772825 | FANCE | c.395G>T (p.Trp132Leu) c.113G>T (p.Trp38Leu) n.35G>T c.101G>T (p.Trp34Leu) n.602G>T | |
| 6 | g.35455894G>A | CA363772827 | FANCE | c.396G>A (p.Trp132Ter) c.114G>A (p.Trp38Ter) n.36G>A c.102G>A (p.Trp34Ter) n.603G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455894G>C | CA363772828 | FANCE | c.396G>C (p.Trp132Cys) c.114G>C (p.Trp38Cys) n.36G>C c.102G>C (p.Trp34Cys) n.603G>C | |
| 6 | g.35455894G= | CA1620905462 | FANCE | c.396G= (p.Trp132=) c.114G= (p.Trp38=) n.36G= c.102G= (p.Trp34=) n.603G= | |
| 6 | g.35455894G>T | CA137294524 | FANCE | c.396G>T (p.Trp132Cys) c.114G>T (p.Trp38Cys) n.36G>T c.102G>T (p.Trp34Cys) n.603G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35455895C>A | CA363772829 | FANCE | c.397C>A (p.Leu133Ile) c.115C>A (p.Leu39Ile) n.37C>A c.103C>A (p.Leu35Ile) n.604C>A | |
| 6 | g.35455895C= | CA1620905463 | FANCE | c.397C= (p.Leu133=) c.115C= (p.Leu39=) n.37C= c.103C= (p.Leu35=) n.604C= | |
| 6 | g.35455895C>G | CA363772830 | FANCE | c.397C>G (p.Leu133Val) c.115C>G (p.Leu39Val) n.37C>G c.103C>G (p.Leu35Val) n.604C>G | |
| 6 | g.35455895C>T | CA3771401 | FANCE | c.397C>T (p.Leu133Phe) c.115C>T (p.Leu39Phe) n.37C>T c.103C>T (p.Leu35Phe) n.604C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455896T>A | CA363772831 | FANCE | c.398T>A (p.Leu133His) c.116T>A (p.Leu39His) n.38T>A c.104T>A (p.Leu35His) n.605T>A | |
| 6 | g.35455896T>C | CA137294527 | FANCE | c.398T>C (p.Leu133Pro) c.116T>C (p.Leu39Pro) n.38T>C c.104T>C (p.Leu35Pro) n.605T>C | ClinVar dbSNP |
| 6 | g.35455896T>G | CA363772832 | FANCE | c.398T>G (p.Leu133Arg) c.116T>G (p.Leu39Arg) n.38T>G c.104T>G (p.Leu35Arg) n.605T>G | |
| 6 | g.35455896T= | CA1620905464 | FANCE | c.398T= (p.Leu133=) c.116T= (p.Leu39=) n.38T= c.104T= (p.Leu35=) n.605T= | |
| 6 | g.35455897C>A | CA449942433 | FANCE | c.399C>A (p.Leu133=) c.117C>A (p.Leu39=) n.39C>A c.105C>A (p.Leu35=) n.606C>A | |
| 6 | g.35455897C= | CA1620905465 | FANCE | c.399C= (p.Leu133=) c.117C= (p.Leu39=) n.39C= c.105C= (p.Leu35=) n.606C= | |
| 6 | g.35455897C>G | CA449942434 | FANCE | c.399C>G (p.Leu133=) c.117C>G (p.Leu39=) n.39C>G c.105C>G (p.Leu35=) n.606C>G | |
| 6 | g.35455897C>T | CA137294532 | FANCE | c.399C>T (p.Leu133=) c.117C>T (p.Leu39=) n.39C>T c.105C>T (p.Leu35=) n.606C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455898C>A | CA363772833 | FANCE | c.400C>A (p.Arg134Ser) c.118C>A (p.Arg40Ser) n.40C>A c.106C>A (p.Arg36Ser) n.607C>A | |
| 6 | g.35455898C= | CA1620905466 | FANCE | c.400C= (p.Arg134=) c.118C= (p.Arg40=) n.40C= c.106C= (p.Arg36=) n.607C= | |
| 6 | g.35455898C>G | CA363772834 | FANCE | c.400C>G (p.Arg134Gly) c.118C>G (p.Arg40Gly) n.40C>G c.106C>G (p.Arg36Gly) n.607C>G | dbSNP |
| 6 | g.35455898C>T | CA3771402 | FANCE | c.400C>T (p.Arg134Cys) c.118C>T (p.Arg40Cys) n.40C>T c.106C>T (p.Arg36Cys) n.607C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.35455899G>A | CA3771403 | FANCE | c.401G>A (p.Arg134His) c.119G>A (p.Arg40His) n.41G>A c.107G>A (p.Arg36His) n.608G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.35455899G>C | CA363772836 | FANCE | c.401G>C (p.Arg134Pro) c.119G>C (p.Arg40Pro) n.41G>C c.107G>C (p.Arg36Pro) n.608G>C | dbSNP |
| 6 | g.35455899G= | CA1620905467 | FANCE | c.401G= (p.Arg134=) c.119G= (p.Arg40=) n.41G= c.107G= (p.Arg36=) n.608G= | |
| 6 | g.35455899G>T | CA363772835 | FANCE | c.401G>T (p.Arg134Leu) c.119G>T (p.Arg40Leu) n.41G>T c.107G>T (p.Arg36Leu) n.608G>T | gnomAD v4 |
| 6 | g.35455900_35455906del | CA2678405599 | FANCE | c.402_408del (p.Ala135GlyfsTer?) c.120_126del (p.Ala41GlyfsTer?) n.42_48del c.108_114del (p.Ala37GlyfsTer?) n.609_615del | gnomAD v4 |
| 6 | g.35455900T>A | CA449942436 | FANCE | c.402T>A (p.Arg134=) c.120T>A (p.Arg40=) n.42T>A c.108T>A (p.Arg36=) n.609T>A | |
| 6 | g.35455900T>C | CA449942437 | FANCE | c.402T>C (p.Arg134=) c.120T>C (p.Arg40=) n.42T>C c.108T>C (p.Arg36=) n.609T>C | |
| 6 | g.35455900T>G | CA449942438 | FANCE | c.402T>G (p.Arg134=) c.120T>G (p.Arg40=) n.42T>G c.108T>G (p.Arg36=) n.609T>G | |
| 6 | g.35455901G>A | CA363772837 | FANCE | c.403G>A (p.Ala135Thr) c.121G>A (p.Ala41Thr) n.43G>A c.109G>A (p.Ala37Thr) n.610G>A | |
| 6 | g.35455901G>C | CA363772838 | FANCE | c.403G>C (p.Ala135Pro) c.121G>C (p.Ala41Pro) n.43G>C c.109G>C (p.Ala37Pro) n.610G>C | |
| 6 | g.35455901G= | CA1620905468 | FANCE | c.403G= (p.Ala135=) c.121G= (p.Ala41=) n.43G= c.109G= (p.Ala37=) n.610G= | |
| 6 | g.35455901G>T | CA363772839 | FANCE | c.403G>T (p.Ala135Ser) c.121G>T (p.Ala41Ser) n.43G>T c.109G>T (p.Ala37Ser) n.610G>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.35455902C>A | CA363772840 | FANCE | c.404C>A (p.Ala135Asp) c.122C>A (p.Ala41Asp) n.44C>A c.110C>A (p.Ala37Asp) n.611C>A | |
| 6 | g.35455902C>G | CA363772841 | FANCE | c.404C>G (p.Ala135Gly) c.122C>G (p.Ala41Gly) n.44C>G c.110C>G (p.Ala37Gly) n.611C>G | |
| 6 | g.35455902C>T | CA363772842 | FANCE | c.404C>T (p.Ala135Val) c.122C>T (p.Ala41Val) n.44C>T c.110C>T (p.Ala37Val) n.611C>T | dbSNP |
| 6 | g.35455903C>A | CA449942441 | FANCE | c.405C>A (p.Ala135=) c.123C>A (p.Ala41=) n.45C>A c.111C>A (p.Ala37=) n.612C>A | |
| 6 | g.35455903C= | CA1620905469 | FANCE | c.405C= (p.Ala135=) c.123C= (p.Ala41=) n.45C= c.111C= (p.Ala37=) n.612C= | |
| 6 | g.35455903C>G | CA449942442 | FANCE | c.405C>G (p.Ala135=) c.123C>G (p.Ala41=) n.45C>G c.111C>G (p.Ala37=) n.612C>G | |
| 6 | g.35455903C>T | CA449942443 | FANCE | c.405C>T (p.Ala135=) c.123C>T (p.Ala41=) n.45C>T c.111C>T (p.Ala37=) n.612C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.35455904C>A | CA363772844 | FANCE | c.406C>A (p.Leu136Met) c.124C>A (p.Leu42Met) n.46C>A c.112C>A (p.Leu38Met) n.613C>A | gnomAD v4 |
| 6 | g.35455904C>G | CA363772843 | FANCE | c.406C>G (p.Leu136Val) c.124C>G (p.Leu42Val) n.46C>G c.112C>G (p.Leu38Val) n.613C>G | |
| 6 | g.35455904C>T | CA449942445 | FANCE | c.406C>T (p.Leu136=) c.124C>T (p.Leu42=) n.46C>T c.112C>T (p.Leu38=) n.613C>T | |
| 6 | g.35455905T>A | CA363772845 | FANCE | c.407T>A (p.Leu136Gln) c.125T>A (p.Leu42Gln) n.47T>A c.113T>A (p.Leu38Gln) n.614T>A | |
| 6 | g.35455905T>C | CA363772846 | FANCE | c.407T>C (p.Leu136Pro) c.125T>C (p.Leu42Pro) n.47T>C c.113T>C (p.Leu38Pro) n.614T>C | |
| 6 | g.35455905T>G | CA363772847 | FANCE | c.407T>G (p.Leu136Arg) c.125T>G (p.Leu42Arg) n.47T>G c.113T>G (p.Leu38Arg) n.614T>G | |
| 6 | g.35455906G>A | CA449942450 | FANCE | c.408G>A (p.Leu136=) c.126G>A (p.Leu42=) n.48G>A c.114G>A (p.Leu38=) n.615G>A | |
| 6 | g.35455906G>C | CA449942449 | FANCE | c.408G>C (p.Leu136=) c.126G>C (p.Leu42=) n.48G>C c.114G>C (p.Leu38=) n.615G>C | |
| 6 | g.35455906G>T | CA449942448 | FANCE | c.408G>T (p.Leu136=) c.126G>T (p.Leu42=) n.48G>T c.114G>T (p.Leu38=) n.615G>T | |
| 6 | g.35455910del | CA2517514993 | FANCE | c.412del (p.Glu138AsnfsTer?) c.130del (p.Glu44AsnfsTer?) n.52del c.118del (p.Glu40AsnfsTer?) n.619del | dbSNP |
| 6 | g.35455907G>A | CA363772848 | FANCE | c.409G>A (p.Gly137Arg) c.127G>A (p.Gly43Arg) n.49G>A c.115G>A (p.Gly39Arg) n.616G>A | |
| 6 | g.35455907G>C | CA363772849 | FANCE | c.409G>C (p.Gly137Arg) c.127G>C (p.Gly43Arg) n.49G>C c.115G>C (p.Gly39Arg) n.616G>C | dbSNP |
| 6 | g.35455907G>T | CA363772850 | FANCE | c.409G>T (p.Gly137Trp) c.127G>T (p.Gly43Trp) n.49G>T c.115G>T (p.Gly39Trp) n.616G>T | |
| 6 | g.35455908G>A | CA363772851 | FANCE | c.410G>A (p.Gly137Glu) c.128G>A (p.Gly43Glu) n.50G>A c.116G>A (p.Gly39Glu) n.617G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455908G>C | CA363772853 | FANCE | c.410G>C (p.Gly137Ala) c.128G>C (p.Gly43Ala) n.50G>C c.116G>C (p.Gly39Ala) n.617G>C | |
| 6 | g.35455908G= | CA1620905470 | FANCE | c.410G= (p.Gly137=) c.128G= (p.Gly43=) n.50G= c.116G= (p.Gly39=) n.617G= | |
| 6 | g.35455908G>T | CA363772852 | FANCE | c.410G>T (p.Gly137Val) c.128G>T (p.Gly43Val) n.50G>T c.116G>T (p.Gly39Val) n.617G>T | |
| 6 | g.35455909G>A | CA449942452 | FANCE | c.411G>A (p.Gly137=) c.129G>A (p.Gly43=) n.51G>A c.117G>A (p.Gly39=) n.618G>A | COSMIC |
| 6 | g.35455909G>C | CA449942454 | FANCE | c.411G>C (p.Gly137=) c.129G>C (p.Gly43=) n.51G>C c.117G>C (p.Gly39=) n.618G>C | |
| 6 | g.35455909G>T | CA449942453 | FANCE | c.411G>T (p.Gly137=) c.129G>T (p.Gly43=) n.51G>T c.117G>T (p.Gly39=) n.618G>T | |
| 6 | g.35455910G>A | CA363772854 | FANCE | c.412G>A (p.Glu138Lys) c.130G>A (p.Glu44Lys) n.52G>A c.118G>A (p.Glu40Lys) n.619G>A | dbSNP |
| 6 | g.35455910G>C | CA363772855 | FANCE | c.412G>C (p.Glu138Gln) c.130G>C (p.Glu44Gln) n.52G>C c.118G>C (p.Glu40Gln) n.619G>C | |
| 6 | g.35455910G= | CA1620905471 | FANCE | c.412G= (p.Glu138=) c.130G= (p.Glu44=) n.52G= c.118G= (p.Glu40=) n.619G= | |
| 6 | g.35455910G>T | CA363772856 | FANCE | c.412G>T (p.Glu138Ter) c.130G>T (p.Glu44Ter) n.52G>T c.118G>T (p.Glu40Ter) n.619G>T | dbSNP gnomAD v2 |
| 6 | g.35455911A>C | CA363772857 | FANCE | c.413A>C (p.Glu138Ala) c.131A>C (p.Glu44Ala) n.53A>C c.119A>C (p.Glu40Ala) n.620A>C | gnomAD v4 |
| 6 | g.35455911A>G | CA363772858 | FANCE | c.413A>G (p.Glu138Gly) c.131A>G (p.Glu44Gly) n.53A>G c.119A>G (p.Glu40Gly) n.620A>G | ClinVar |
| 6 | g.35455911A>T | CA363772859 | FANCE | c.413A>T (p.Glu138Val) c.131A>T (p.Glu44Val) n.53A>T c.119A>T (p.Glu40Val) n.620A>T | |
| 6 | g.35455912A>C | CA363772860 | FANCE | c.414A>C (p.Glu138Asp) c.132A>C (p.Glu44Asp) n.54A>C c.120A>C (p.Glu40Asp) n.621A>C | |
| 6 | g.35455912A>G | CA449942456 | FANCE | c.414A>G (p.Glu138=) c.132A>G (p.Glu44=) n.54A>G c.120A>G (p.Glu40=) n.621A>G | gnomAD v4 |
| 6 | g.35455912A>T | CA363772861 | FANCE | c.414A>T (p.Glu138Asp) c.132A>T (p.Glu44Asp) n.54A>T c.120A>T (p.Glu40Asp) n.621A>T | COSMIC |
| 6 | g.35455913T>A | CA363772862 | FANCE | c.415T>A (p.Leu139Met) c.133T>A (p.Leu45Met) n.55T>A c.121T>A (p.Leu41Met) n.622T>A | |
| 6 | g.35455913T>C | CA3771404 | FANCE | c.415T>C (p.Leu139=) c.133T>C (p.Leu45=) n.55T>C c.121T>C (p.Leu41=) n.622T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455913T>G | CA363772863 | FANCE | c.415T>G (p.Leu139Val) c.133T>G (p.Leu45Val) n.55T>G c.121T>G (p.Leu41Val) n.622T>G | |
| 6 | g.35455913T= | CA1620905472 | FANCE | c.415T= (p.Leu139=) c.133T= (p.Leu45=) n.55T= c.121T= (p.Leu41=) n.622T= | |
| 6 | g.35455914del | CA913110452 | FANCE | c.416del (p.Leu139CysfsTer?) c.134del (p.Leu45CysfsTer?) n.56del c.122del (p.Leu41CysfsTer?) n.623del | |
| 6 | g.35455914T>A | CA363772864 | FANCE | c.416T>A (p.Leu139Ter) c.134T>A (p.Leu45Ter) n.56T>A c.122T>A (p.Leu41Ter) n.623T>A | |
| 6 | g.35455914T>C | CA363772866 | FANCE | c.416T>C (p.Leu139Ser) c.134T>C (p.Leu45Ser) n.56T>C c.122T>C (p.Leu41Ser) n.623T>C | |
| 6 | g.35455914T>G | CA363772865 | FANCE | c.416T>G (p.Leu139Trp) c.134T>G (p.Leu45Trp) n.56T>G c.122T>G (p.Leu41Trp) n.623T>G | |
| 6 | g.35455915G>A | CA3771405 | FANCE | c.417G>A (p.Leu139=) c.135G>A (p.Leu45=) n.57G>A c.123G>A (p.Leu41=) n.624G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35455915G>C | CA363772868 | FANCE | c.417G>C (p.Leu139Phe) c.135G>C (p.Leu45Phe) n.57G>C c.123G>C (p.Leu41Phe) n.624G>C | |
| 6 | g.35455915G= | CA1620905473 | FANCE | c.417G= (p.Leu139=) c.135G= (p.Leu45=) n.57G= c.123G= (p.Leu41=) n.624G= | |
| 6 | g.35455915G>T | CA363772867 | FANCE | c.417G>T (p.Leu139Phe) c.135G>T (p.Leu45Phe) n.57G>T c.123G>T (p.Leu41Phe) n.624G>T | |
| 6 | g.35455916C>A | CA363772869 | FANCE | c.418C>A (p.Leu140Met) c.136C>A (p.Leu46Met) n.58C>A c.124C>A (p.Leu42Met) n.625C>A | |
| 6 | g.35455916C>G | CA363772870 | FANCE | c.418C>G (p.Leu140Val) c.136C>G (p.Leu46Val) n.58C>G c.124C>G (p.Leu42Val) n.625C>G | |
| 6 | g.35455916C>T | CA449942458 | FANCE | c.418C>T (p.Leu140=) c.136C>T (p.Leu46=) n.58C>T c.124C>T (p.Leu42=) n.625C>T | dbSNP gnomAD v4 |
| 6 | g.35455917T>A | CA363772871 | FANCE | c.419T>A (p.Leu140Gln) c.137T>A (p.Leu46Gln) n.59T>A c.125T>A (p.Leu42Gln) n.626T>A | |
| 6 | g.35455917T>C | CA363772872 | FANCE | c.419T>C (p.Leu140Pro) c.137T>C (p.Leu46Pro) n.59T>C c.125T>C (p.Leu42Pro) n.626T>C | |
| 6 | g.35455917T>G | CA363772873 | FANCE | c.419T>G (p.Leu140Arg) c.137T>G (p.Leu46Arg) n.59T>G c.125T>G (p.Leu42Arg) n.626T>G | |
| 6 | g.35455918G>A | CA449942460 | FANCE | c.420G>A (p.Leu140=) c.138G>A (p.Leu46=) n.60G>A c.126G>A (p.Leu42=) n.627G>A | |
| 6 | g.35455918G>C | CA449942461 | FANCE | c.420G>C (p.Leu140=) c.138G>C (p.Leu46=) n.60G>C c.126G>C (p.Leu42=) n.627G>C | |
| 6 | g.35455918G>T | CA449942459 | FANCE | c.420G>T (p.Leu140=) c.138G>T (p.Leu46=) n.60G>T c.126G>T (p.Leu42=) n.627G>T | |
| 6 | g.35455919C>A | CA449942462 | FANCE | c.421C>A (p.Arg141=) c.139C>A (p.Arg47=) n.61C>A c.127C>A (p.Arg43=) n.628C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455919C= | CA1620905474 | FANCE | c.421C= (p.Arg141=) c.139C= (p.Arg47=) n.61C= c.127C= (p.Arg43=) n.628C= | |
| 6 | g.35455919C>G | CA363772874 | FANCE | c.421C>G (p.Arg141Gly) c.139C>G (p.Arg47Gly) n.61C>G c.127C>G (p.Arg43Gly) n.628C>G | dbSNP |
| 6 | g.35455919C>T | CA254531 | FANCE | c.421C>T (p.Arg141Ter) c.139C>T (p.Arg47Ter) n.61C>T c.127C>T (p.Arg43Ter) n.628C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455920G>A | CA137294560 | FANCE | c.422G>A (p.Arg141Gln) c.140G>A (p.Arg47Gln) n.62G>A c.128G>A (p.Arg43Gln) n.629G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.35455920G>C | CA363772875 | FANCE | c.422G>C (p.Arg141Pro) c.140G>C (p.Arg47Pro) n.62G>C c.128G>C (p.Arg43Pro) n.629G>C | |
| 6 | g.35455920G= | CA1620905475 | FANCE | c.422G= (p.Arg141=) c.140G= (p.Arg47=) n.62G= c.128G= (p.Arg43=) n.629G= | |
| 6 | g.35455920G>T | CA363772876 | FANCE | c.422G>T (p.Arg141Leu) c.140G>T (p.Arg47Leu) n.62G>T c.128G>T (p.Arg43Leu) n.629G>T | |
| 6 | g.35455921A>C | CA449942465 | FANCE | c.423A>C (p.Arg141=) c.141A>C (p.Arg47=) n.63A>C c.129A>C (p.Arg43=) n.630A>C | |
| 6 | g.35455921A>G | CA449942467 | FANCE | c.423A>G (p.Arg141=) c.141A>G (p.Arg47=) n.63A>G c.129A>G (p.Arg43=) n.630A>G | |
| 6 | g.35455921A>T | CA449942468 | FANCE | c.423A>T (p.Arg141=) c.141A>T (p.Arg47=) n.63A>T c.129A>T (p.Arg43=) n.630A>T | |
| 6 | g.35455922A>C | CA449942469 | FANCE | c.424A>C (p.Arg142=) c.142A>C (p.Arg48=) n.64A>C c.130A>C (p.Arg44=) n.631A>C | |
| 6 | g.35455922A>G | CA363772877 | FANCE | c.424A>G (p.Arg142Gly) c.142A>G (p.Arg48Gly) n.64A>G c.130A>G (p.Arg44Gly) n.631A>G | |
| 6 | g.35455922A>T | CA363772878 | FANCE | c.424A>T (p.Arg142Trp) c.142A>T (p.Arg48Trp) n.64A>T c.130A>T (p.Arg44Trp) n.631A>T | |
| 6 | g.35455923G>A | CA363772881 | FANCE | c.425G>A (p.Arg142Lys) c.143G>A (p.Arg48Lys) n.65G>A c.131G>A (p.Arg44Lys) n.632G>A | |
| 6 | g.35455923G>C | CA363772879 | FANCE | c.425G>C (p.Arg142Thr) c.143G>C (p.Arg48Thr) n.65G>C c.131G>C (p.Arg44Thr) n.632G>C | |
| 6 | g.35455923G>T | CA363772880 | FANCE | c.425G>T (p.Arg142Met) c.143G>T (p.Arg48Met) n.65G>T c.131G>T (p.Arg44Met) n.632G>T | gnomAD v4 |
| 6 | g.35455924G>A | CA137294566 | FANCE | c.426G>A (p.Arg142=) c.144G>A (p.Arg48=) n.66G>A c.132G>A (p.Arg44=) n.633G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.35455924G>C | CA3771406 | FANCE | c.426G>C (p.Arg142Ser) c.144G>C (p.Arg48Ser) n.66G>C c.132G>C (p.Arg44Ser) n.633G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455924G= | CA1620905476 | FANCE | c.426G= (p.Arg142=) c.144G= (p.Arg48=) n.66G= c.132G= (p.Arg44=) n.633G= | |
| 6 | g.35455924G>T | CA363772882 | FANCE | c.426G>T (p.Arg142Ser) c.144G>T (p.Arg48Ser) n.66G>T c.132G>T (p.Arg44Ser) n.633G>T | gnomAD v4 |
| 6 | g.35455925G>A | CA363772883 | FANCE | c.427G>A (p.Asp143Asn) c.145G>A (p.Asp49Asn) n.67G>A c.133G>A (p.Asp45Asn) n.634G>A | COSMIC |
| 6 | g.35455925G>C | CA3771407 | FANCE | c.427G>C (p.Asp143His) c.145G>C (p.Asp49His) n.67G>C c.133G>C (p.Asp45His) n.634G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35455925G= | CA1620905477 | FANCE | c.427G= (p.Asp143=) c.145G= (p.Asp49=) n.67G= c.133G= (p.Asp45=) n.634G= | |
| 6 | g.35455925G>T | CA363772884 | FANCE | c.427G>T (p.Asp143Tyr) c.145G>T (p.Asp49Tyr) n.67G>T c.133G>T (p.Asp45Tyr) n.634G>T | |
| 6 | g.35455926A>C | CA363772885 | FANCE | c.428A>C (p.Asp143Ala) c.146A>C (p.Asp49Ala) n.68A>C c.134A>C (p.Asp45Ala) n.635A>C | gnomAD v4 |
| 6 | g.35455926A>G | CA363772886 | FANCE | c.428A>G (p.Asp143Gly) c.146A>G (p.Asp49Gly) n.68A>G c.134A>G (p.Asp45Gly) n.635A>G | |
| 6 | g.35455926A>T | CA363772887 | FANCE | c.428A>T (p.Asp143Val) c.146A>T (p.Asp49Val) n.68A>T c.134A>T (p.Asp45Val) n.635A>T | |
| 6 | g.35455927T>A | CA363772888 | FANCE | c.429T>A (p.Asp143Glu) c.147T>A (p.Asp49Glu) n.69T>A c.135T>A (p.Asp45Glu) n.636T>A | |
| 6 | g.35455927T>C | CA449942473 | FANCE | c.429T>C (p.Asp143=) c.147T>C (p.Asp49=) n.69T>C c.135T>C (p.Asp45=) n.636T>C | |
| 6 | g.35455927T>G | CA363772889 | FANCE | c.429T>G (p.Asp143Glu) c.147T>G (p.Asp49Glu) n.69T>G c.135T>G (p.Asp45Glu) n.636T>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455927T= | CA1620905478 | FANCE | c.429T= (p.Asp143=) c.147T= (p.Asp49=) n.69T= c.135T= (p.Asp45=) n.636T= | |
| 6 | g.35455929del | CA2678405600 | FANCE | c.431del (p.Leu144TrpfsTer?) c.149del (p.Leu50TrpfsTer?) n.71del c.137del (p.Leu46TrpfsTer?) n.638del | gnomAD v4 |
| 6 | g.35455928T>A | CA363772890 | FANCE | c.430T>A (p.Leu144Met) c.148T>A (p.Leu50Met) n.70T>A c.136T>A (p.Leu46Met) n.637T>A | dbSNP |
| 6 | g.35455928T>C | CA449942475 | FANCE | c.430T>C (p.Leu144=) c.148T>C (p.Leu50=) n.70T>C c.136T>C (p.Leu46=) n.637T>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.35455928T>G | CA363772891 | FANCE | c.430T>G (p.Leu144Val) c.148T>G (p.Leu50Val) n.70T>G c.136T>G (p.Leu46Val) n.637T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455928T= | CA1620905479 | FANCE | c.430T= (p.Leu144=) c.148T= (p.Leu50=) n.70T= c.136T= (p.Leu46=) n.637T= | |
| 6 | g.35455929T>A | CA363772892 | FANCE | c.431T>A (p.Leu144Ter) c.149T>A (p.Leu50Ter) n.71T>A c.137T>A (p.Leu46Ter) n.638T>A | |
| 6 | g.35455929T>C | CA363772893 | FANCE | c.431T>C (p.Leu144Ser) c.149T>C (p.Leu50Ser) n.71T>C c.137T>C (p.Leu46Ser) n.638T>C | |
| 6 | g.35455929T>G | CA363772894 | FANCE | c.431T>G (p.Leu144Trp) c.149T>G (p.Leu50Trp) n.71T>G c.137T>G (p.Leu46Trp) n.638T>G | |
| 6 | g.35455929_35455930delinsTG | CA1620905480 | FANCE | c.431_432delinsTG (p.Leu144=) c.149_150delinsTG (p.Leu50=) n.71_72delinsTG c.137_138delinsTG (p.Leu46=) n.638_639delinsTG | |
| 6 | g.35455930G>A | CA3771408 | FANCE | c.432G>A (p.Leu144=) c.150G>A (p.Leu50=) n.72G>A c.138G>A (p.Leu46=) n.639G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455930G>C | CA363772895 | FANCE | c.432G>C (p.Leu144Phe) c.150G>C (p.Leu50Phe) n.72G>C c.138G>C (p.Leu46Phe) n.639G>C | |
| 6 | g.35455930G= | CA1620905481 | FANCE | c.432G= (p.Leu144=) c.150G= (p.Leu50=) n.72G= c.138G= (p.Leu46=) n.639G= | |
| 6 | g.35455930G>T | CA363772896 | FANCE | c.432G>T (p.Leu144Phe) c.150G>T (p.Leu50Phe) n.72G>T c.138G>T (p.Leu46Phe) n.639G>T | |
| 6 | g.35455934del | CA1139659494 | FANCE | c.436del (p.Val146TrpfsTer?) c.154del (p.Val52TrpfsTer?) n.76del c.142del (p.Val48TrpfsTer?) n.643del | ClinVar dbSNP |
| 6 | g.35455931G>A | CA363772897 | FANCE | c.433G>A (p.Gly145Arg) c.151G>A (p.Gly51Arg) n.73G>A c.139G>A (p.Gly47Arg) n.640G>A | dbSNP gnomAD v4 |
| 6 | g.35455931G>C | CA363772898 | FANCE | c.433G>C (p.Gly145Arg) c.151G>C (p.Gly51Arg) n.73G>C c.139G>C (p.Gly47Arg) n.640G>C | gnomAD v4 |
| 6 | g.35455931G= | CA1620905482 | FANCE | c.433G= (p.Gly145=) c.151G= (p.Gly51=) n.73G= c.139G= (p.Gly47=) n.640G= | |
| 6 | g.35455931G>T | CA363772899 | FANCE | c.433G>T (p.Gly145Trp) c.151G>T (p.Gly51Trp) n.73G>T c.139G>T (p.Gly47Trp) n.640G>T | dbSNP gnomAD v4 |
| 6 | g.35455932G>A | CA363772900 | FANCE | c.434G>A (p.Gly145Glu) c.152G>A (p.Gly51Glu) n.74G>A c.140G>A (p.Gly47Glu) n.641G>A | dbSNP |
| 6 | g.35455932G>C | CA363772901 | FANCE | c.434G>C (p.Gly145Ala) c.152G>C (p.Gly51Ala) n.74G>C c.140G>C (p.Gly47Ala) n.641G>C | |
| 6 | g.35455932G= | CA1620905483 | FANCE | c.434G= (p.Gly145=) c.152G= (p.Gly51=) n.74G= c.140G= (p.Gly47=) n.641G= | |
| 6 | g.35455932G>T | CA363772902 | FANCE | c.434G>T (p.Gly145Val) c.152G>T (p.Gly51Val) n.74G>T c.140G>T (p.Gly47Val) n.641G>T | |
| 6 | g.35455933G>A | CA449942482 | FANCE | c.435G>A (p.Gly145=) c.153G>A (p.Gly51=) n.75G>A c.141G>A (p.Gly47=) n.642G>A | dbSNP |
| 6 | g.35455933G>C | CA449942484 | FANCE | c.435G>C (p.Gly145=) c.153G>C (p.Gly51=) n.75G>C c.141G>C (p.Gly47=) n.642G>C | ClinVar |
| 6 | g.35455933G>T | CA449942486 | FANCE | c.435G>T (p.Gly145=) c.153G>T (p.Gly51=) n.75G>T c.141G>T (p.Gly47=) n.642G>T | gnomAD v4 |
| 6 | g.35455934G>A | CA363772904 | FANCE | c.436G>A (p.Val146Met) c.154G>A (p.Val52Met) n.76G>A c.142G>A (p.Val48Met) n.643G>A | dbSNP |
| 6 | g.35455934G>C | CA363772903 | FANCE | c.436G>C (p.Val146Leu) c.154G>C (p.Val52Leu) n.76G>C c.142G>C (p.Val48Leu) n.643G>C | |
| 6 | g.35455934G= | CA1620905484 | FANCE | c.436G= (p.Val146=) c.154G= (p.Val52=) n.76G= c.142G= (p.Val48=) n.643G= | |
| 6 | g.35455934G>T | CA3771409 | FANCE | c.436G>T (p.Val146Leu) c.154G>T (p.Val52Leu) n.76G>T c.142G>T (p.Val48Leu) n.643G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455935T>A | CA363772905 | FANCE | c.437T>A (p.Val146Glu) c.155T>A (p.Val52Glu) n.77T>A c.143T>A (p.Val48Glu) n.644T>A | dbSNP |
| 6 | g.35455935T>C | CA363772906 | FANCE | c.437T>C (p.Val146Ala) c.155T>C (p.Val52Ala) n.77T>C c.143T>C (p.Val48Ala) n.644T>C | |
| 6 | g.35455935T>G | CA363772907 | FANCE | c.437T>G (p.Val146Gly) c.155T>G (p.Val52Gly) n.77T>G c.143T>G (p.Val48Gly) n.644T>G | dbSNP |
| 6 | g.35455936G>A | CA449942487 | FANCE | c.438G>A (p.Val146=) c.156G>A (p.Val52=) n.78G>A c.144G>A (p.Val48=) n.645G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455936G>C | CA449942488 | FANCE | c.438G>C (p.Val146=) c.156G>C (p.Val52=) n.78G>C c.144G>C (p.Val48=) n.645G>C | |
| 6 | g.35455936G= | CA1620905485 | FANCE | c.438G= (p.Val146=) c.156G= (p.Val52=) n.78G= c.144G= (p.Val48=) n.645G= | |
| 6 | g.35455936G>T | CA449942489 | FANCE | c.438G>T (p.Val146=) c.156G>T (p.Val52=) n.78G>T c.144G>T (p.Val48=) n.645G>T | |
| 6 | g.35455939dup | CA2711469468 | FANCE | c.441dup (p.Thr148AspfsTer11) c.159dup (p.Thr54AspfsTer11) n.81dup c.147dup (p.Thr50AspfsTer11) n.648dup | dbSNP |
| 6 | g.35455937G>A | CA363772908 | FANCE | c.439G>A (p.Gly147Arg) c.157G>A (p.Gly53Arg) n.79G>A c.145G>A (p.Gly49Arg) n.646G>A | gnomAD v4 |
| 6 | g.35455937G>C | CA363772909 | FANCE | c.439G>C (p.Gly147Arg) c.157G>C (p.Gly53Arg) n.79G>C c.145G>C (p.Gly49Arg) n.646G>C | |
| 6 | g.35455937G>T | CA363772910 | FANCE | c.439G>T (p.Gly147Trp) c.157G>T (p.Gly53Trp) n.79G>T c.145G>T (p.Gly49Trp) n.646G>T | |
| 6 | g.35455938G>A | CA363772911 | FANCE | c.440G>A (p.Gly147Glu) c.158G>A (p.Gly53Glu) n.80G>A c.146G>A (p.Gly49Glu) n.647G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455938G>C | CA363772912 | FANCE | c.440G>C (p.Gly147Ala) c.158G>C (p.Gly53Ala) n.80G>C c.146G>C (p.Gly49Ala) n.647G>C | |
| 6 | g.35455938G= | CA1620905486 | FANCE | c.440G= (p.Gly147=) c.158G= (p.Gly53=) n.80G= c.146G= (p.Gly49=) n.647G= | |
| 6 | g.35455938G>T | CA363772913 | FANCE | c.440G>T (p.Gly147Val) c.158G>T (p.Gly53Val) n.80G>T c.146G>T (p.Gly49Val) n.647G>T | |
| 6 | g.35455939G>A | CA449942490 | FANCE | c.441G>A (p.Gly147=) c.159G>A (p.Gly53=) n.81G>A c.147G>A (p.Gly49=) n.648G>A | gnomAD v4 |
| 6 | g.35455939G>C | CA449942492 | FANCE | c.441G>C (p.Gly147=) c.159G>C (p.Gly53=) n.81G>C c.147G>C (p.Gly49=) n.648G>C | dbSNP |
| 6 | g.35455939G>T | CA449942491 | FANCE | c.441G>T (p.Gly147=) c.159G>T (p.Gly53=) n.81G>T c.147G>T (p.Gly49=) n.648G>T | |
| 6 | g.35455940A>C | CA363772914 | FANCE | c.442A>C (p.Thr148Pro) c.160A>C (p.Thr54Pro) n.82A>C c.148A>C (p.Thr50Pro) n.649A>C | |
| 6 | g.35455940A>G | CA363772915 | FANCE | c.442A>G (p.Thr148Ala) c.160A>G (p.Thr54Ala) n.82A>G c.148A>G (p.Thr50Ala) n.649A>G | |
| 6 | g.35455940A>T | CA363772916 | FANCE | c.442A>T (p.Thr148Ser) c.160A>T (p.Thr54Ser) n.82A>T c.148A>T (p.Thr50Ser) n.649A>T | dbSNP |
| 6 | g.35455941C>A | CA363772919 | FANCE | c.443C>A (p.Thr148Asn) c.161C>A (p.Thr54Asn) n.83C>A c.149C>A (p.Thr50Asn) n.650C>A | |
| 6 | g.35455941C>G | CA363772918 | FANCE | c.443C>G (p.Thr148Ser) c.161C>G (p.Thr54Ser) n.83C>G c.149C>G (p.Thr50Ser) n.650C>G | dbSNP |
| 6 | g.35455941C>T | CA363772917 | FANCE | c.443C>T (p.Thr148Ile) c.161C>T (p.Thr54Ile) n.83C>T c.149C>T (p.Thr50Ile) n.650C>T | gnomAD v4 |
| 6 | g.35455942C>A | CA449942494 | FANCE | c.444C>A (p.Thr148=) c.162C>A (p.Thr54=) n.84C>A c.150C>A (p.Thr50=) n.651C>A | |
| 6 | g.35455942C>G | CA449942495 | FANCE | c.444C>G (p.Thr148=) c.162C>G (p.Thr54=) n.84C>G c.150C>G (p.Thr50=) n.651C>G | ClinVar |
| 6 | g.35455942C>T | CA449942497 | FANCE | c.444C>T (p.Thr148=) c.162C>T (p.Thr54=) n.84C>T c.150C>T (p.Thr50=) n.651C>T | dbSNP |
| 6 | g.35455943T>A | CA363772920 | FANCE | c.445T>A (p.Ser149Thr) c.163T>A (p.Ser55Thr) n.85T>A c.151T>A (p.Ser51Thr) n.652T>A | |
| 6 | g.35455943T>C | CA363772922 | FANCE | c.445T>C (p.Ser149Pro) c.163T>C (p.Ser55Pro) n.85T>C c.151T>C (p.Ser51Pro) n.652T>C | dbSNP |
| 6 | g.35455943T>G | CA363772921 | FANCE | c.445T>G (p.Ser149Ala) c.163T>G (p.Ser55Ala) n.85T>G c.151T>G (p.Ser51Ala) n.652T>G | |
| 6 | g.35455944C>A | CA363772923 | FANCE | c.446C>A (p.Ser149Tyr) c.164C>A (p.Ser55Tyr) n.86C>A c.152C>A (p.Ser51Tyr) n.653C>A | |
| 6 | g.35455944C>G | CA363772925 | FANCE | c.446C>G (p.Ser149Cys) c.164C>G (p.Ser55Cys) n.86C>G c.152C>G (p.Ser51Cys) n.653C>G | |
| 6 | g.35455944C>T | CA363772924 | FANCE | c.446C>T (p.Ser149Phe) c.164C>T (p.Ser55Phe) n.86C>T c.152C>T (p.Ser51Phe) n.653C>T | gnomAD v4 |
| 6 | g.35455945C>A | CA449942500 | FANCE | c.447C>A (p.Ser149=) c.165C>A (p.Ser55=) n.87C>A c.153C>A (p.Ser51=) n.654C>A | |
| 6 | g.35455945C= | CA1620905487 | FANCE | c.447C= (p.Ser149=) c.165C= (p.Ser55=) n.87C= c.153C= (p.Ser51=) n.654C= | |
| 6 | g.35455945C>G | CA449942501 | FANCE | c.447C>G (p.Ser149=) c.165C>G (p.Ser55=) n.87C>G c.153C>G (p.Ser51=) n.654C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455945C>T | CA3771410 | FANCE | c.447C>T (p.Ser149=) c.165C>T (p.Ser55=) n.87C>T c.153C>T (p.Ser51=) n.654C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35455946A= | CA1620905488 | FANCE | c.448A= (p.Met150=) c.166A= (p.Met56=) n.88A= c.154A= (p.Met52=) n.655A= | |
| 6 | g.35455946A>C | CA363772927 | FANCE | c.448A>C (p.Met150Leu) c.166A>C (p.Met56Leu) n.88A>C c.154A>C (p.Met52Leu) n.655A>C | |
| 6 | g.35455946A>G | CA363772926 | FANCE | c.448A>G (p.Met150Val) c.166A>G (p.Met56Val) n.88A>G c.154A>G (p.Met52Val) n.655A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.35455946A>T | CA363772928 | FANCE | c.448A>T (p.Met150Leu) c.166A>T (p.Met56Leu) n.88A>T c.154A>T (p.Met52Leu) n.655A>T | |
| 6 | g.35455947T>A | CA363772929 | FANCE | c.449T>A (p.Met150Lys) c.167T>A (p.Met56Lys) n.89T>A c.155T>A (p.Met52Lys) n.656T>A | |
| 6 | g.35455947T>C | CA3771411 | FANCE | c.449T>C (p.Met150Thr) c.167T>C (p.Met56Thr) n.89T>C c.155T>C (p.Met52Thr) n.656T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.35455947T>G | CA363772930 | FANCE | c.449T>G (p.Met150Arg) c.167T>G (p.Met56Arg) n.89T>G c.155T>G (p.Met52Arg) n.656T>G | |
| 6 | g.35455947T= | CA1620905489 | FANCE | c.449T= (p.Met150=) c.167T= (p.Met56=) n.89T= c.155T= (p.Met52=) n.656T= | |
| 6 | g.35455948G>A | CA363772931 | FANCE | c.450G>A (p.Met150Ile) c.168G>A (p.Met56Ile) n.90G>A c.156G>A (p.Met52Ile) n.657G>A | dbSNP |
| 6 | g.35455948G>C | CA363772932 | FANCE | c.450G>C (p.Met150Ile) c.168G>C (p.Met56Ile) n.90G>C c.156G>C (p.Met52Ile) n.657G>C | |
| 6 | g.35455948G>T | CA363772933 | FANCE | c.450G>T (p.Met150Ile) c.168G>T (p.Met56Ile) n.90G>T c.156G>T (p.Met52Ile) n.657G>T | |
| 6 | g.35455949G>A | CA363772934 | FANCE | c.451G>A (p.Glu151Lys) c.169G>A (p.Glu57Lys) n.91G>A c.157G>A (p.Glu53Lys) n.658G>A | dbSNP |
| 6 | g.35455949G>C | CA363772935 | FANCE | c.451G>C (p.Glu151Gln) c.169G>C (p.Glu57Gln) n.91G>C c.157G>C (p.Glu53Gln) n.658G>C | |
| 6 | g.35455949G>T | CA363772936 | FANCE | c.451G>T (p.Glu151Ter) c.169G>T (p.Glu57Ter) n.91G>T c.157G>T (p.Glu53Ter) n.658G>T | |
| 6 | g.35455950A>C | CA363772937 | FANCE | c.452A>C (p.Glu151Ala) c.170A>C (p.Glu57Ala) n.92A>C c.158A>C (p.Glu53Ala) n.659A>C | dbSNP |
| 6 | g.35455950A>G | CA363772938 | FANCE | c.452A>G (p.Glu151Gly) c.170A>G (p.Glu57Gly) n.92A>G c.158A>G (p.Glu53Gly) n.659A>G | dbSNP |
| 6 | g.35455950A>T | CA363772939 | FANCE | c.452A>T (p.Glu151Val) c.170A>T (p.Glu57Val) n.92A>T c.158A>T (p.Glu53Val) n.659A>T | |
| 6 | g.35455951G>A | CA450123609 | FANCE | c.453G>A (p.Glu151=) c.171G>A (p.Glu57=) n.93G>A c.159G>A (p.Glu53=) n.660G>A | |
| 6 | g.35455951G>C | CA363772941 | FANCE | c.453G>C (p.Glu151Asp) c.171G>C (p.Glu57Asp) n.93G>C c.159G>C (p.Glu53Asp) n.660G>C | gnomAD v4 |
| 6 | g.35455951G>T | CA363772940 | FANCE | c.453G>T (p.Glu151Asp) c.171G>T (p.Glu57Asp) n.93G>T c.159G>T (p.Glu53Asp) n.660G>T | |
| 6 | g.35455952G>A | CA363772942 | FANCE | c.454G>A (p.Gly152Arg) c.172G>A (p.Gly58Arg) n.94G>A c.160G>A (p.Gly54Arg) n.661G>A | dbSNP |
| 6 | g.35455952G>C | CA363772943 | FANCE | c.454G>C (p.Gly152Arg) c.172G>C (p.Gly58Arg) n.94G>C c.160G>C (p.Gly54Arg) n.661G>C | |
| 6 | g.35455952G>T | CA363772944 | FANCE | c.454G>T (p.Gly152Ter) c.172G>T (p.Gly58Ter) n.94G>T c.160G>T (p.Gly54Ter) n.661G>T | |
| 6 | g.35455953G>A | CA363772945 | FANCE | c.455G>A (p.Gly152Glu) c.173G>A (p.Gly58Glu) n.95G>A c.161G>A (p.Gly54Glu) n.662G>A | |
| 6 | g.35455953G>C | CA363772946 | FANCE | c.455G>C (p.Gly152Ala) c.173G>C (p.Gly58Ala) n.95G>C c.161G>C (p.Gly54Ala) n.662G>C | |
| 6 | g.35455953G>T | CA363772947 | FANCE | c.455G>T (p.Gly152Val) c.173G>T (p.Gly58Val) n.95G>T c.161G>T (p.Gly54Val) n.662G>T |