| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89263911C>A | CA7722688 | FANCI | c.275C>A (p.Pro92His) c.17C>A (p.Pro6His) c.554C>A (p.Pro185His) c.33C>A n.129+16185C>A c.92C>A (p.Pro31His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263911C= | CA2194585655 | FANCI | c.275C= (p.Pro92=) c.17C= (p.Pro6=) c.554C= (p.Pro185=) c.33C= n.129+16185C= c.92C= (p.Pro31=) | |
| 15 | g.89263911C>G | CA393738888 | FANCI | c.275C>G (p.Pro92Arg) c.17C>G (p.Pro6Arg) c.554C>G (p.Pro185Arg) c.33C>G n.129+16185C>G c.92C>G (p.Pro31Arg) | |
| 15 | g.89263911C>T | CA393738889 | FANCI | c.275C>T (p.Pro92Leu) c.17C>T (p.Pro6Leu) c.554C>T (p.Pro185Leu) c.33C>T n.129+16185C>T c.92C>T (p.Pro31Leu) | dbSNP gnomAD v4 |
| 15 | g.89263912T>A | CA492065193 | FANCI | c.276T>A (p.Pro92=) c.18T>A (p.Pro6=) c.555T>A (p.Pro185=) c.34T>A n.129+16186T>A c.93T>A (p.Pro31=) | gnomAD v4 |
| 15 | g.89263912T>C | CA492065194 | FANCI | c.276T>C (p.Pro92=) c.18T>C (p.Pro6=) c.555T>C (p.Pro185=) c.34T>C n.129+16186T>C c.93T>C (p.Pro31=) | ClinVar gnomAD v4 |
| 15 | g.89263912T>G | CA492065195 | FANCI | c.276T>G (p.Pro92=) c.18T>G (p.Pro6=) c.555T>G (p.Pro185=) c.34T>G n.129+16186T>G c.93T>G (p.Pro31=) | |
| 15 | g.89263912_89263916delinsTCTGA | CA2194585657 | FANCI | c.276_280delinsTCTGA (p.Pro92=) c.18_22delinsTCTGA (p.Pro6=) c.555_559delinsTCTGA (p.Pro185=) c.34_38delinsTCTGA n.129+16186_129+16190delinsTCTGA c.93_97delinsTCTGA (p.Pro31=) | |
| 15 | g.89263913C>A | CA393738890 | FANCI | c.277C>A (p.Leu93Met) c.19C>A (p.Leu7Met) c.556C>A (p.Leu186Met) c.35C>A n.129+16187C>A c.94C>A (p.Leu32Met) | |
| 15 | g.89263913C= | CA2194585660 | FANCI | c.277C= (p.Leu93=) c.19C= (p.Leu7=) c.556C= (p.Leu186=) c.35C= n.129+16187C= c.94C= (p.Leu32=) | |
| 15 | g.89263913C>G | CA393738891 | FANCI | c.277C>G (p.Leu93Val) c.19C>G (p.Leu7Val) c.556C>G (p.Leu186Val) c.35C>G n.129+16187C>G c.94C>G (p.Leu32Val) | dbSNP |
| 15 | g.89263913C>T | CA492065196 | FANCI | c.277C>T (p.Leu93=) c.19C>T (p.Leu7=) c.556C>T (p.Leu186=) c.35C>T n.129+16187C>T c.94C>T (p.Leu32=) | |
| 15 | g.89263916_89263919del | CA716866155 | FANCI | c.280_283del (p.Thr94GlnfsTer12) c.22_25del (p.Thr8GlnfsTer12) c.559_562del (p.Thr187GlnfsTer12) c.38_41del n.129+16190_129+16193del c.97_100del (p.Thr33GlnfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89263914T>A | CA393738894 | FANCI | c.278T>A (p.Leu93Gln) c.20T>A (p.Leu7Gln) c.557T>A (p.Leu186Gln) c.36T>A n.129+16188T>A c.95T>A (p.Leu32Gln) | |
| 15 | g.89263914T>C | CA393738893 | FANCI | c.278T>C (p.Leu93Pro) c.20T>C (p.Leu7Pro) c.557T>C (p.Leu186Pro) c.36T>C n.129+16188T>C c.95T>C (p.Leu32Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263914T>G | CA393738892 | FANCI | c.278T>G (p.Leu93Arg) c.20T>G (p.Leu7Arg) c.557T>G (p.Leu186Arg) c.36T>G n.129+16188T>G c.95T>G (p.Leu32Arg) | |
| 15 | g.89263914T= | CA2194585665 | FANCI | c.278T= (p.Leu93=) c.20T= (p.Leu7=) c.557T= (p.Leu186=) c.36T= n.129+16188T= c.95T= (p.Leu32=) | |
| 15 | g.89263915G>A | CA492065201 | FANCI | c.279G>A (p.Leu93=) c.21G>A (p.Leu7=) c.558G>A (p.Leu186=) c.37G>A n.129+16189G>A c.96G>A (p.Leu32=) | |
| 15 | g.89263915G>C | CA492065203 | FANCI | c.279G>C (p.Leu93=) c.21G>C (p.Leu7=) c.558G>C (p.Leu186=) c.37G>C n.129+16189G>C c.96G>C (p.Leu32=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263915G= | CA2194585671 | FANCI | c.279G= (p.Leu93=) c.21G= (p.Leu7=) c.558G= (p.Leu186=) c.37G= n.129+16189G= c.96G= (p.Leu32=) | |
| 15 | g.89263915G>T | CA7722689 | FANCI | c.279G>T (p.Leu93=) c.21G>T (p.Leu7=) c.558G>T (p.Leu186=) c.37G>T n.129+16189G>T c.96G>T (p.Leu32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263916A= | CA2194585676 | FANCI | c.280A= (p.Thr94=) c.22A= (p.Thr8=) c.559A= (p.Thr187=) c.38A= n.129+16190A= c.97A= (p.Thr33=) | |
| 15 | g.89263916A>C | CA393738895 | FANCI | c.280A>C (p.Thr94Pro) c.22A>C (p.Thr8Pro) c.559A>C (p.Thr187Pro) c.38A>C n.129+16190A>C c.97A>C (p.Thr33Pro) | |
| 15 | g.89263916A>G | CA7722690 | FANCI | c.280A>G (p.Thr94Ala) c.22A>G (p.Thr8Ala) c.559A>G (p.Thr187Ala) c.38A>G n.129+16190A>G c.97A>G (p.Thr33Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263916A>T | CA393738896 | FANCI | c.280A>T (p.Thr94Ser) c.22A>T (p.Thr8Ser) c.559A>T (p.Thr187Ser) c.38A>T n.129+16190A>T c.97A>T (p.Thr33Ser) | |
| 15 | g.89263917C>A | CA393738897 | FANCI | c.281C>A (p.Thr94Asn) c.23C>A (p.Thr8Asn) c.560C>A (p.Thr187Asn) c.39C>A n.129+16191C>A c.98C>A (p.Thr33Asn) | |
| 15 | g.89263917C>G | CA393738898 | FANCI | c.281C>G (p.Thr94Ser) c.23C>G (p.Thr8Ser) c.560C>G (p.Thr187Ser) c.39C>G n.129+16191C>G c.98C>G (p.Thr33Ser) | ClinVar gnomAD v4 |
| 15 | g.89263917C>T | CA393738899 | FANCI | c.281C>T (p.Thr94Ile) c.23C>T (p.Thr8Ile) c.560C>T (p.Thr187Ile) c.39C>T n.129+16191C>T c.98C>T (p.Thr33Ile) | |
| 15 | g.89263918T>A | CA492065206 | FANCI | c.282T>A (p.Thr94=) c.24T>A (p.Thr8=) c.561T>A (p.Thr187=) c.40T>A n.129+16192T>A c.99T>A (p.Thr33=) | |
| 15 | g.89263918T>C | CA492065210 | FANCI | c.282T>C (p.Thr94=) c.24T>C (p.Thr8=) c.561T>C (p.Thr187=) c.40T>C n.129+16192T>C c.99T>C (p.Thr33=) | |
| 15 | g.89263918T>G | CA492065208 | FANCI | c.282T>G (p.Thr94=) c.24T>G (p.Thr8=) c.561T>G (p.Thr187=) c.40T>G n.129+16192T>G c.99T>G (p.Thr33=) | |
| 15 | g.89263919G>A | CA393738900 | FANCI | c.283G>A (p.Ala95Thr) c.25G>A (p.Ala9Thr) c.562G>A (p.Ala188Thr) c.41G>A n.129+16193G>A c.100G>A (p.Ala34Thr) | |
| 15 | g.89263919G>C | CA393738901 | FANCI | c.283G>C (p.Ala95Pro) c.25G>C (p.Ala9Pro) c.562G>C (p.Ala188Pro) c.41G>C n.129+16193G>C c.100G>C (p.Ala34Pro) | |
| 15 | g.89263919G>T | CA393738902 | FANCI | c.283G>T (p.Ala95Ser) c.25G>T (p.Ala9Ser) c.562G>T (p.Ala188Ser) c.41G>T n.129+16193G>T c.100G>T (p.Ala34Ser) | gnomAD v4 |
| 15 | g.89263920C>A | CA393738903 | FANCI | c.284C>A (p.Ala95Glu) c.26C>A (p.Ala9Glu) c.563C>A (p.Ala188Glu) c.42C>A n.129+16194C>A c.101C>A (p.Ala34Glu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263920C= | CA2194585680 | FANCI | c.284C= (p.Ala95=) c.26C= (p.Ala9=) c.563C= (p.Ala188=) c.42C= n.129+16194C= c.101C= (p.Ala34=) | |
| 15 | g.89263920C>G | CA393738904 | FANCI | c.284C>G (p.Ala95Gly) c.26C>G (p.Ala9Gly) c.563C>G (p.Ala188Gly) c.42C>G n.129+16194C>G c.101C>G (p.Ala34Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89263920C>T | CA393738905 | FANCI | c.284C>T (p.Ala95Val) c.26C>T (p.Ala9Val) c.563C>T (p.Ala188Val) c.42C>T n.129+16194C>T c.101C>T (p.Ala34Val) | |
| 15 | g.89263921A= | CA2194585685 | FANCI | c.285A= (p.Ala95=) c.27A= (p.Ala9=) c.564A= (p.Ala188=) c.43A= n.129+16195A= c.102A= (p.Ala34=) | |
| 15 | g.89263921A>C | CA492065215 | FANCI | c.285A>C (p.Ala95=) c.27A>C (p.Ala9=) c.564A>C (p.Ala188=) c.43A>C n.129+16195A>C c.102A>C (p.Ala34=) | |
| 15 | g.89263921A>G | CA492065216 | FANCI | c.285A>G (p.Ala95=) c.27A>G (p.Ala9=) c.564A>G (p.Ala188=) c.43A>G n.129+16195A>G c.102A>G (p.Ala34=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89263921A>T | CA492065217 | FANCI | c.285A>T (p.Ala95=) c.27A>T (p.Ala9=) c.564A>T (p.Ala188=) c.43A>T n.129+16195A>T c.102A>T (p.Ala34=) | |
| 15 | g.89263922G>A | CA393738908 | FANCI | c.286G>A (p.Glu96Lys) c.28G>A (p.Glu10Lys) c.565G>A (p.Glu189Lys) c.44G>A n.129+16196G>A c.103G>A (p.Glu35Lys) | ClinVar dbSNP |
| 15 | g.89263922G>C | CA393738906 | FANCI | c.286G>C (p.Glu96Gln) c.28G>C (p.Glu10Gln) c.565G>C (p.Glu189Gln) c.44G>C n.129+16196G>C c.103G>C (p.Glu35Gln) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263922G= | CA2194585687 | FANCI | c.286G= (p.Glu96=) c.28G= (p.Glu10=) c.565G= (p.Glu189=) c.44G= n.129+16196G= c.103G= (p.Glu35=) | |
| 15 | g.89263922G>T | CA393738907 | FANCI | c.286G>T (p.Glu96Ter) c.28G>T (p.Glu10Ter) c.565G>T (p.Glu189Ter) c.44G>T n.129+16196G>T c.103G>T (p.Glu35Ter) | |
| 15 | g.89263923A>C | CA393738909 | FANCI | c.287A>C (p.Glu96Ala) c.29A>C (p.Glu10Ala) c.566A>C (p.Glu189Ala) c.45A>C n.129+16197A>C c.104A>C (p.Glu35Ala) | |
| 15 | g.89263923A>G | CA393738910 | FANCI | c.287A>G (p.Glu96Gly) c.29A>G (p.Glu10Gly) c.566A>G (p.Glu189Gly) c.45A>G n.129+16197A>G c.104A>G (p.Glu35Gly) | |
| 15 | g.89263923A>T | CA393738911 | FANCI | c.287A>T (p.Glu96Val) c.29A>T (p.Glu10Val) c.566A>T (p.Glu189Val) c.45A>T n.129+16197A>T c.104A>T (p.Glu35Val) | |
| 15 | g.89263924A>C | CA393738912 | FANCI | c.288A>C (p.Glu96Asp) c.30A>C (p.Glu10Asp) c.567A>C (p.Glu189Asp) c.46A>C n.129+16198A>C c.105A>C (p.Glu35Asp) | |
| 15 | g.89263924A>G | CA492065220 | FANCI | c.288A>G (p.Glu96=) c.30A>G (p.Glu10=) c.567A>G (p.Glu189=) c.46A>G n.129+16198A>G c.105A>G (p.Glu35=) | |
| 15 | g.89263924A>T | CA393738913 | FANCI | c.288A>T (p.Glu96Asp) c.30A>T (p.Glu10Asp) c.567A>T (p.Glu189Asp) c.46A>T n.129+16198A>T c.105A>T (p.Glu35Asp) | |
| 15 | g.89263925G>A | CA393738914 | FANCI | c.289G>A (p.Glu97Lys) c.31G>A (p.Glu11Lys) c.568G>A (p.Glu190Lys) c.47G>A n.129+16199G>A c.106G>A (p.Glu36Lys) | gnomAD v4 |
| 15 | g.89263925G>C | CA393738915 | FANCI | c.289G>C (p.Glu97Gln) c.31G>C (p.Glu11Gln) c.568G>C (p.Glu190Gln) c.47G>C n.129+16199G>C c.106G>C (p.Glu36Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263925G= | CA2194585691 | FANCI | c.289G= (p.Glu97=) c.31G= (p.Glu11=) c.568G= (p.Glu190=) c.47G= n.129+16199G= c.106G= (p.Glu36=) | |
| 15 | g.89263925G>T | CA393738916 | FANCI | c.289G>T (p.Glu97Ter) c.31G>T (p.Glu11Ter) c.568G>T (p.Glu190Ter) c.47G>T n.129+16199G>T c.106G>T (p.Glu36Ter) | |
| 15 | g.89263926A>C | CA393738917 | FANCI | c.290A>C (p.Glu97Ala) c.32A>C (p.Glu11Ala) c.569A>C (p.Glu190Ala) c.48A>C n.129+16200A>C c.107A>C (p.Glu36Ala) | |
| 15 | g.89263926A>G | CA393738918 | FANCI | c.290A>G (p.Glu97Gly) c.32A>G (p.Glu11Gly) c.569A>G (p.Glu190Gly) c.48A>G n.129+16200A>G c.107A>G (p.Glu36Gly) | |
| 15 | g.89263926A>T | CA393738919 | FANCI | c.290A>T (p.Glu97Val) c.32A>T (p.Glu11Val) c.569A>T (p.Glu190Val) c.48A>T n.129+16200A>T c.107A>T (p.Glu36Val) | |
| 15 | g.89263927G>A | CA7722691 | FANCI | c.291G>A (p.Glu97=) c.33G>A (p.Glu11=) c.570G>A (p.Glu190=) c.49G>A n.129+16201G>A c.108G>A (p.Glu36=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.89263927G>C | CA393738921 | FANCI | c.291G>C (p.Glu97Asp) c.33G>C (p.Glu11Asp) c.570G>C (p.Glu190Asp) c.49G>C n.129+16201G>C c.108G>C (p.Glu36Asp) | |
| 15 | g.89263927G= | CA2194585694 | FANCI | c.291G= (p.Glu97=) c.33G= (p.Glu11=) c.570G= (p.Glu190=) c.49G= n.129+16201G= c.108G= (p.Glu36=) | |
| 15 | g.89263927G>T | CA393738920 | FANCI | c.291G>T (p.Glu97Asp) c.33G>T (p.Glu11Asp) c.570G>T (p.Glu190Asp) c.49G>T n.129+16201G>T c.108G>T (p.Glu36Asp) | |
| 15 | g.89263928G>A | CA393738922 | FANCI | c.292G>A (p.Val98Met) c.34G>A (p.Val12Met) c.571G>A (p.Val191Met) c.50G>A n.129+16202G>A c.109G>A (p.Val37Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89263928G>C | CA393738924 | FANCI | c.292G>C (p.Val98Leu) c.34G>C (p.Val12Leu) c.571G>C (p.Val191Leu) c.50G>C n.129+16202G>C c.109G>C (p.Val37Leu) | |
| 15 | g.89263928G= | CA2194585703 | FANCI | c.292G= (p.Val98=) c.34G= (p.Val12=) c.571G= (p.Val191=) c.50G= n.129+16202G= c.109G= (p.Val37=) | |
| 15 | g.89263928G>T | CA393738923 | FANCI | c.292G>T (p.Val98Leu) c.34G>T (p.Val12Leu) c.571G>T (p.Val191Leu) c.50G>T n.129+16202G>T c.109G>T (p.Val37Leu) | COSMIC COSMIC |
| 15 | g.89263929T>A | CA393738926 | FANCI | c.293T>A (p.Val98Glu) c.35T>A (p.Val12Glu) c.572T>A (p.Val191Glu) c.51T>A n.129+16203T>A c.110T>A (p.Val37Glu) | |
| 15 | g.89263929T>C | CA393738928 | FANCI | c.293T>C (p.Val98Ala) c.35T>C (p.Val12Ala) c.572T>C (p.Val191Ala) c.51T>C n.129+16203T>C c.110T>C (p.Val37Ala) | dbSNP |
| 15 | g.89263929T>G | CA393738929 | FANCI | c.293T>G (p.Val98Gly) c.35T>G (p.Val12Gly) c.572T>G (p.Val191Gly) c.51T>G n.129+16203T>G c.110T>G (p.Val37Gly) | |
| 15 | g.89263930G>A | CA492065225 | FANCI | c.294G>A (p.Val98=) c.36G>A (p.Val12=) c.573G>A (p.Val191=) c.52G>A n.129+16204G>A c.111G>A (p.Val37=) | ClinVar |
| 15 | g.89263930G>C | CA492065226 | FANCI | c.294G>C (p.Val98=) c.36G>C (p.Val12=) c.573G>C (p.Val191=) c.52G>C n.129+16204G>C c.111G>C (p.Val37=) | |
| 15 | g.89263930G>T | CA492065227 | FANCI | c.294G>T (p.Val98=) c.36G>T (p.Val12=) c.573G>T (p.Val191=) c.52G>T n.129+16204G>T c.111G>T (p.Val37=) | |
| 15 | g.89263931G>A | CA393738931 | FANCI | c.295G>A (p.Glu99Lys) c.37G>A (p.Glu13Lys) c.574G>A (p.Glu192Lys) c.53G>A n.129+16205G>A c.112G>A (p.Glu38Lys) | |
| 15 | g.89263931G>C | CA393738932 | FANCI | c.295G>C (p.Glu99Gln) c.37G>C (p.Glu13Gln) c.574G>C (p.Glu192Gln) c.53G>C n.129+16205G>C c.112G>C (p.Glu38Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89263931G= | CA2194585706 | FANCI | c.295G= (p.Glu99=) c.37G= (p.Glu13=) c.574G= (p.Glu192=) c.53G= n.129+16205G= c.112G= (p.Glu38=) | |
| 15 | g.89263931G>T | CA393738934 | FANCI | c.295G>T (p.Glu99Ter) c.37G>T (p.Glu13Ter) c.574G>T (p.Glu192Ter) c.53G>T n.129+16205G>T c.112G>T (p.Glu38Ter) | |
| 15 | g.89263932A>C | CA393738939 | FANCI | c.296A>C (p.Glu99Ala) c.38A>C (p.Glu13Ala) c.575A>C (p.Glu192Ala) c.54A>C n.129+16206A>C c.113A>C (p.Glu38Ala) | |
| 15 | g.89263932A>G | CA393738936 | FANCI | c.296A>G (p.Glu99Gly) c.38A>G (p.Glu13Gly) c.575A>G (p.Glu192Gly) c.54A>G n.129+16206A>G c.113A>G (p.Glu38Gly) | |
| 15 | g.89263932A>T | CA393738938 | FANCI | c.296A>T (p.Glu99Val) c.38A>T (p.Glu13Val) c.575A>T (p.Glu192Val) c.54A>T n.129+16206A>T c.113A>T (p.Glu38Val) | |
| 15 | g.89263933A>C | CA393738941 | FANCI | c.297A>C (p.Glu99Asp) c.39A>C (p.Glu13Asp) c.576A>C (p.Glu192Asp) c.55A>C n.129+16207A>C c.114A>C (p.Glu38Asp) | |
| 15 | g.89263933A>G | CA492065229 | FANCI | c.297A>G (p.Glu99=) c.39A>G (p.Glu13=) c.576A>G (p.Glu192=) c.55A>G n.129+16207A>G c.114A>G (p.Glu38=) | ClinVar gnomAD v4 |
| 15 | g.89263933A>T | CA393738942 | FANCI | c.297A>T (p.Glu99Asp) c.39A>T (p.Glu13Asp) c.576A>T (p.Glu192Asp) c.55A>T n.129+16207A>T c.114A>T (p.Glu38Asp) | |
| 15 | g.89263934T>A | CA393738944 | FANCI | c.298T>A (p.Phe100Ile) c.40T>A (p.Phe14Ile) c.577T>A (p.Phe193Ile) c.56T>A n.129+16208T>A c.115T>A (p.Phe39Ile) | |
| 15 | g.89263934T>C | CA393738945 | FANCI | c.298T>C (p.Phe100Leu) c.40T>C (p.Phe14Leu) c.577T>C (p.Phe193Leu) c.56T>C n.129+16208T>C c.115T>C (p.Phe39Leu) | |
| 15 | g.89263934T>G | CA393738946 | FANCI | c.298T>G (p.Phe100Val) c.40T>G (p.Phe14Val) c.577T>G (p.Phe193Val) c.56T>G n.129+16208T>G c.115T>G (p.Phe39Val) | |
| 15 | g.89263935T>A | CA393738951 | FANCI | c.299T>A (p.Phe100Tyr) c.41T>A (p.Phe14Tyr) c.578T>A (p.Phe193Tyr) c.57T>A n.129+16209T>A c.116T>A (p.Phe39Tyr) | |
| 15 | g.89263935T>C | CA393738948 | FANCI | c.299T>C (p.Phe100Ser) c.41T>C (p.Phe14Ser) c.578T>C (p.Phe193Ser) c.57T>C n.129+16209T>C c.116T>C (p.Phe39Ser) | |
| 15 | g.89263935T>G | CA393738950 | FANCI | c.299T>G (p.Phe100Cys) c.41T>G (p.Phe14Cys) c.578T>G (p.Phe193Cys) c.57T>G n.129+16209T>G c.116T>G (p.Phe39Cys) | |
| 15 | g.89263936T>A | CA393738952 | FANCI | c.300T>A (p.Phe100Leu) c.42T>A (p.Phe14Leu) c.579T>A (p.Phe193Leu) c.58T>A n.129+16210T>A c.117T>A (p.Phe39Leu) | |
| 15 | g.89263936T>C | CA7722692 | FANCI | c.300T>C (p.Phe100=) c.42T>C (p.Phe14=) c.579T>C (p.Phe193=) c.58T>C n.129+16210T>C c.117T>C (p.Phe39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263936T>G | CA393738955 | FANCI | c.300T>G (p.Phe100Leu) c.42T>G (p.Phe14Leu) c.579T>G (p.Phe193Leu) c.58T>G n.129+16210T>G c.117T>G (p.Phe39Leu) | |
| 15 | g.89263936T= | CA2194585710 | FANCI | c.300T= (p.Phe100=) c.42T= (p.Phe14=) c.579T= (p.Phe193=) c.58T= n.129+16210T= c.117T= (p.Phe39=) | |
| 15 | g.89263937G>A | CA393738956 | FANCI | c.301G>A (p.Val101Met) c.43G>A (p.Val15Met) c.580G>A (p.Val194Met) c.59G>A n.129+16211G>A c.118G>A (p.Val40Met) | gnomAD v4 |
| 15 | g.89263937G>C | CA393738958 | FANCI | c.301G>C (p.Val101Leu) c.43G>C (p.Val15Leu) c.580G>C (p.Val194Leu) c.59G>C n.129+16211G>C c.118G>C (p.Val40Leu) | |
| 15 | g.89263937G>T | CA393738960 | FANCI | c.301G>T (p.Val101Leu) c.43G>T (p.Val15Leu) c.580G>T (p.Val194Leu) c.59G>T n.129+16211G>T c.118G>T (p.Val40Leu) | |
| 15 | g.89263938T>A | CA393738962 | FANCI | c.302T>A (p.Val101Glu) c.44T>A (p.Val15Glu) c.581T>A (p.Val194Glu) c.60T>A n.129+16212T>A c.119T>A (p.Val40Glu) | |
| 15 | g.89263938T>C | CA393738963 | FANCI | c.302T>C (p.Val101Ala) c.44T>C (p.Val15Ala) c.581T>C (p.Val194Ala) c.60T>C n.129+16212T>C c.119T>C (p.Val40Ala) | |
| 15 | g.89263938T>G | CA393738965 | FANCI | c.302T>G (p.Val101Gly) c.44T>G (p.Val15Gly) c.581T>G (p.Val194Gly) c.60T>G n.129+16212T>G c.119T>G (p.Val40Gly) | |
| 15 | g.89263939G>A | CA492065231 | FANCI | c.303G>A (p.Val101=) c.45G>A (p.Val15=) c.582G>A (p.Val194=) c.61G>A n.129+16213G>A c.120G>A (p.Val40=) | |
| 15 | g.89263939G>C | CA492065232 | FANCI | c.303G>C (p.Val101=) c.45G>C (p.Val15=) c.582G>C (p.Val194=) c.61G>C n.129+16213G>C c.120G>C (p.Val40=) | |
| 15 | g.89263939G>T | CA492065234 | FANCI | c.303G>T (p.Val101=) c.45G>T (p.Val15=) c.582G>T (p.Val194=) c.61G>T n.129+16213G>T c.120G>T (p.Val40=) | dbSNP |
| 15 | g.89263940G>A | CA393738966 | FANCI | c.304G>A (p.Val102Met) c.46G>A (p.Val16Met) c.583G>A (p.Val195Met) c.62G>A n.129+16214G>A c.121G>A (p.Val41Met) | gnomAD v4 |
| 15 | g.89263940G>C | CA393738968 | FANCI | c.304G>C (p.Val102Leu) c.46G>C (p.Val16Leu) c.583G>C (p.Val195Leu) c.62G>C n.129+16214G>C c.121G>C (p.Val41Leu) | |
| 15 | g.89263940G>T | CA393738970 | FANCI | c.304G>T (p.Val102Leu) c.46G>T (p.Val16Leu) c.583G>T (p.Val195Leu) c.62G>T n.129+16214G>T c.121G>T (p.Val41Leu) | |
| 15 | g.89263941T>A | CA393738971 | FANCI | c.305T>A (p.Val102Glu) c.47T>A (p.Val16Glu) c.584T>A (p.Val195Glu) c.63T>A n.129+16215T>A c.122T>A (p.Val41Glu) | |
| 15 | g.89263941T>C | CA393738974 | FANCI | c.305T>C (p.Val102Ala) c.47T>C (p.Val16Ala) c.584T>C (p.Val195Ala) c.63T>C n.129+16215T>C c.122T>C (p.Val41Ala) | |
| 15 | g.89263941T>G | CA393738973 | FANCI | c.305T>G (p.Val102Gly) c.47T>G (p.Val16Gly) c.584T>G (p.Val195Gly) c.63T>G n.129+16215T>G c.122T>G (p.Val41Gly) | |
| 15 | g.89263942G>A | CA492065236 | FANCI | c.306G>A (p.Val102=) c.48G>A (p.Val16=) c.585G>A (p.Val195=) c.64G>A n.129+16216G>A c.123G>A (p.Val41=) | |
| 15 | g.89263942G>C | CA492065238 | FANCI | c.306G>C (p.Val102=) c.48G>C (p.Val16=) c.585G>C (p.Val195=) c.64G>C n.129+16216G>C c.123G>C (p.Val41=) | |
| 15 | g.89263942G>T | CA492065239 | FANCI | c.306G>T (p.Val102=) c.48G>T (p.Val16=) c.585G>T (p.Val195=) c.64G>T n.129+16216G>T c.123G>T (p.Val41=) | |
| 15 | g.89263943G>A | CA393738976 | FANCI | c.307G>A (p.Glu103Lys) c.49G>A (p.Glu17Lys) c.586G>A (p.Glu196Lys) c.65G>A n.129+16217G>A c.124G>A (p.Glu42Lys) | |
| 15 | g.89263943G>C | CA393738978 | FANCI | c.307G>C (p.Glu103Gln) c.49G>C (p.Glu17Gln) c.586G>C (p.Glu196Gln) c.65G>C n.129+16217G>C c.124G>C (p.Glu42Gln) | |
| 15 | g.89263943G>T | CA393738979 | FANCI | c.307G>T (p.Glu103Ter) c.49G>T (p.Glu17Ter) c.586G>T (p.Glu196Ter) c.65G>T n.129+16217G>T c.124G>T (p.Glu42Ter) | |
| 15 | g.89263944A= | CA2194585714 | FANCI | c.308A= (p.Glu103=) c.50A= (p.Glu17=) c.587A= (p.Glu196=) c.66A= n.129+16218A= c.125A= (p.Glu42=) | |
| 15 | g.89263944A>C | CA7722693 | FANCI | c.308A>C (p.Glu103Ala) c.50A>C (p.Glu17Ala) c.587A>C (p.Glu196Ala) c.66A>C n.129+16218A>C c.125A>C (p.Glu42Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263944A>G | CA393738982 | FANCI | c.308A>G (p.Glu103Gly) c.50A>G (p.Glu17Gly) c.587A>G (p.Glu196Gly) c.66A>G n.129+16218A>G c.125A>G (p.Glu42Gly) | |
| 15 | g.89263944A>T | CA393738983 | FANCI | c.308A>T (p.Glu103Val) c.50A>T (p.Glu17Val) c.587A>T (p.Glu196Val) c.66A>T n.129+16218A>T c.125A>T (p.Glu42Val) | |
| 15 | g.89263945A>C | CA393738985 | FANCI | c.309A>C (p.Glu103Asp) c.51A>C (p.Glu17Asp) c.588A>C (p.Glu196Asp) c.67A>C n.129+16219A>C c.126A>C (p.Glu42Asp) | |
| 15 | g.89263945A>G | CA492065241 | FANCI | c.309A>G (p.Glu103=) c.51A>G (p.Glu17=) c.588A>G (p.Glu196=) c.67A>G n.129+16219A>G c.126A>G (p.Glu42=) | |
| 15 | g.89263945A>T | CA393738988 | FANCI | c.309A>T (p.Glu103Asp) c.51A>T (p.Glu17Asp) c.588A>T (p.Glu196Asp) c.67A>T n.129+16219A>T c.126A>T (p.Glu42Asp) | |
| 15 | g.89263946A>C | CA393738989 | FANCI | c.310A>C (p.Lys104Gln) c.52A>C (p.Lys18Gln) c.589A>C (p.Lys197Gln) c.68A>C n.129+16220A>C c.127A>C (p.Lys43Gln) | |
| 15 | g.89263946A>G | CA393738990 | FANCI | c.310A>G (p.Lys104Glu) c.52A>G (p.Lys18Glu) c.589A>G (p.Lys197Glu) c.68A>G n.129+16220A>G c.127A>G (p.Lys43Glu) | |
| 15 | g.89263946A>T | CA393738992 | FANCI | c.310A>T (p.Lys104Ter) c.52A>T (p.Lys18Ter) c.589A>T (p.Lys197Ter) c.68A>T n.129+16220A>T c.127A>T (p.Lys43Ter) | |
| 15 | g.89263947A>C | CA393738997 | FANCI | c.311A>C (p.Lys104Thr) c.53A>C (p.Lys18Thr) c.590A>C (p.Lys197Thr) c.69A>C n.129+16221A>C c.128A>C (p.Lys43Thr) | |
| 15 | g.89263947A>G | CA393738996 | FANCI | c.311A>G (p.Lys104Arg) c.53A>G (p.Lys18Arg) c.590A>G (p.Lys197Arg) c.69A>G n.129+16221A>G c.128A>G (p.Lys43Arg) | |
| 15 | g.89263947A>T | CA393738994 | FANCI | c.311A>T (p.Lys104Ile) c.53A>T (p.Lys18Ile) c.590A>T (p.Lys197Ile) c.69A>T n.129+16221A>T c.128A>T (p.Lys43Ile) | |
| 15 | g.89263948A>C | CA393738998 | FANCI | c.312A>C (p.Lys104Asn) c.54A>C (p.Lys18Asn) c.591A>C (p.Lys197Asn) c.70A>C n.129+16222A>C c.129A>C (p.Lys43Asn) | |
| 15 | g.89263948A>G | CA492065246 | FANCI | c.312A>G (p.Lys104=) c.54A>G (p.Lys18=) c.591A>G (p.Lys197=) c.70A>G n.129+16222A>G c.129A>G (p.Lys43=) | |
| 15 | g.89263948A>T | CA393738999 | FANCI | c.312A>T (p.Lys104Asn) c.54A>T (p.Lys18Asn) c.591A>T (p.Lys197Asn) c.70A>T n.129+16222A>T c.129A>T (p.Lys43Asn) | |
| 15 | g.89263949G>A | CA393739000 | FANCI | c.313G>A (p.Ala105Thr) c.55G>A (p.Ala19Thr) c.592G>A (p.Ala198Thr) c.71G>A n.129+16223G>A c.130G>A (p.Ala44Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89263949G>C | CA393739002 | FANCI | c.313G>C (p.Ala105Pro) c.55G>C (p.Ala19Pro) c.592G>C (p.Ala198Pro) c.71G>C n.129+16223G>C c.130G>C (p.Ala44Pro) | |
| 15 | g.89263949G= | CA2194585716 | FANCI | c.313G= (p.Ala105=) c.55G= (p.Ala19=) c.592G= (p.Ala198=) c.71G= n.129+16223G= c.130G= (p.Ala44=) | |
| 15 | g.89263949G>T | CA393739004 | FANCI | c.313G>T (p.Ala105Ser) c.55G>T (p.Ala19Ser) c.592G>T (p.Ala198Ser) c.71G>T n.129+16223G>T c.130G>T (p.Ala44Ser) | |
| 15 | g.89263950C>A | CA393739005 | FANCI | c.314C>A (p.Ala105Glu) c.56C>A (p.Ala19Glu) c.593C>A (p.Ala198Glu) c.72C>A n.129+16224C>A c.131C>A (p.Ala44Glu) | |
| 15 | g.89263950C>G | CA393739007 | FANCI | c.314C>G (p.Ala105Gly) c.56C>G (p.Ala19Gly) c.593C>G (p.Ala198Gly) c.72C>G n.129+16224C>G c.131C>G (p.Ala44Gly) | |
| 15 | g.89263950C>T | CA393739008 | FANCI | c.314C>T (p.Ala105Val) c.56C>T (p.Ala19Val) c.593C>T (p.Ala198Val) c.72C>T n.129+16224C>T c.131C>T (p.Ala44Val) | gnomAD v4 |
| 15 | g.89263951A= | CA2194585718 | FANCI | c.315A= (p.Ala105=) c.57A= (p.Ala19=) c.594A= (p.Ala198=) c.73A= n.129+16225A= c.132A= (p.Ala44=) | |
| 15 | g.89263951A>C | CA492065248 | FANCI | c.315A>C (p.Ala105=) c.57A>C (p.Ala19=) c.594A>C (p.Ala198=) c.73A>C n.129+16225A>C c.132A>C (p.Ala44=) | |
| 15 | g.89263951A>G | CA7722694 | FANCI | c.315A>G (p.Ala105=) c.57A>G (p.Ala19=) c.594A>G (p.Ala198=) c.73A>G n.129+16225A>G c.132A>G (p.Ala44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263951A>T | CA492065250 | FANCI | c.315A>T (p.Ala105=) c.57A>T (p.Ala19=) c.594A>T (p.Ala198=) c.73A>T n.129+16225A>T c.132A>T (p.Ala44=) | |
| 15 | g.89263952T>A | CA393739011 | FANCI | c.316T>A (p.Leu106Met) c.58T>A (p.Leu20Met) c.595T>A (p.Leu199Met) c.74T>A n.129+16226T>A c.133T>A (p.Leu45Met) | |
| 15 | g.89263952T>C | CA7722695 | FANCI | c.316T>C (p.Leu106=) c.58T>C (p.Leu20=) c.595T>C (p.Leu199=) c.74T>C n.129+16226T>C c.133T>C (p.Leu45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263952T>G | CA393739013 | FANCI | c.316T>G (p.Leu106Val) c.58T>G (p.Leu20Val) c.595T>G (p.Leu199Val) c.74T>G n.129+16226T>G c.133T>G (p.Leu45Val) | |
| 15 | g.89263952T= | CA2194585723 | FANCI | c.316T= (p.Leu106=) c.58T= (p.Leu20=) c.595T= (p.Leu199=) c.74T= n.129+16226T= c.133T= (p.Leu45=) | |
| 15 | g.89263953T>A | CA393739018 | FANCI | c.317T>A (p.Leu106Ter) c.59T>A (p.Leu20Ter) c.596T>A (p.Leu199Ter) c.75T>A n.129+16227T>A c.134T>A (p.Leu45Ter) | |
| 15 | g.89263953T>C | CA393739016 | FANCI | c.317T>C (p.Leu106Ser) c.59T>C (p.Leu20Ser) c.596T>C (p.Leu199Ser) c.75T>C n.129+16227T>C c.134T>C (p.Leu45Ser) | |
| 15 | g.89263953T>G | CA393739014 | FANCI | c.317T>G (p.Leu106Trp) c.59T>G (p.Leu20Trp) c.596T>G (p.Leu199Trp) c.75T>G n.129+16227T>G c.134T>G (p.Leu45Trp) | |
| 15 | g.89263954G>A | CA492065252 | FANCI | c.318G>A (p.Leu106=) c.60G>A (p.Leu20=) c.597G>A (p.Leu199=) c.76G>A n.129+16228G>A c.135G>A (p.Leu45=) | dbSNP |
| 15 | g.89263954G>C | CA393739019 | FANCI | c.318G>C (p.Leu106Phe) c.60G>C (p.Leu20Phe) c.597G>C (p.Leu199Phe) c.76G>C n.129+16228G>C c.135G>C (p.Leu45Phe) | |
| 15 | g.89263954G= | CA2194585727 | FANCI | c.318G= (p.Leu106=) c.60G= (p.Leu20=) c.597G= (p.Leu199=) c.76G= n.129+16228G= c.135G= (p.Leu45=) | |
| 15 | g.89263954G>T | CA393739020 | FANCI | c.318G>T (p.Leu106Phe) c.60G>T (p.Leu20Phe) c.597G>T (p.Leu199Phe) c.76G>T n.129+16228G>T c.135G>T (p.Leu45Phe) | dbSNP |
| 15 | g.89263955A>C | CA393739022 | FANCI | c.319A>C (p.Ser107Arg) c.61A>C (p.Ser21Arg) c.598A>C (p.Ser200Arg) c.77A>C n.129+16229A>C c.136A>C (p.Ser46Arg) | |
| 15 | g.89263955A>G | CA393739024 | FANCI | c.319A>G (p.Ser107Gly) c.61A>G (p.Ser21Gly) c.598A>G (p.Ser200Gly) c.77A>G n.129+16229A>G c.136A>G (p.Ser46Gly) | |
| 15 | g.89263955A>T | CA393739025 | FANCI | c.319A>T (p.Ser107Cys) c.61A>T (p.Ser21Cys) c.598A>T (p.Ser200Cys) c.77A>T n.129+16229A>T c.136A>T (p.Ser46Cys) | |
| 15 | g.89263956G>A | CA393739026 | FANCI | c.320G>A (p.Ser107Asn) c.62G>A (p.Ser21Asn) c.599G>A (p.Ser200Asn) c.78G>A n.129+16230G>A c.137G>A (p.Ser46Asn) | |
| 15 | g.89263956G>C | CA7722696 | FANCI | c.320G>C (p.Ser107Thr) c.62G>C (p.Ser21Thr) c.599G>C (p.Ser200Thr) c.78G>C n.129+16230G>C c.137G>C (p.Ser46Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263956G= | CA2194585729 | FANCI | c.320G= (p.Ser107=) c.62G= (p.Ser21=) c.599G= (p.Ser200=) c.78G= n.129+16230G= c.137G= (p.Ser46=) | |
| 15 | g.89263956G>T | CA274538993 | FANCI | c.320G>T (p.Ser107Ile) c.62G>T (p.Ser21Ile) c.599G>T (p.Ser200Ile) c.78G>T n.129+16230G>T c.137G>T (p.Ser46Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89263957C>A | CA393739028 | FANCI | c.321C>A (p.Ser107Arg) c.63C>A (p.Ser21Arg) c.600C>A (p.Ser200Arg) c.79C>A n.129+16231C>A c.138C>A (p.Ser46Arg) | |
| 15 | g.89263957C>G | CA393739029 | FANCI | c.321C>G (p.Ser107Arg) c.63C>G (p.Ser21Arg) c.600C>G (p.Ser200Arg) c.79C>G n.129+16231C>G c.138C>G (p.Ser46Arg) | |
| 15 | g.89263957C>T | CA492065256 | FANCI | c.321C>T (p.Ser107=) c.63C>T (p.Ser21=) c.600C>T (p.Ser200=) c.79C>T n.129+16231C>T c.138C>T (p.Ser46=) | |
| 15 | g.89263958A= | CA2194585731 | FANCI | c.322A= (p.Met108=) c.64A= (p.Met22=) c.601A= (p.Met201=) c.80A= n.129+16232A= c.139A= (p.Met47=) | |
| 15 | g.89263958A>C | CA393739031 | FANCI | c.322A>C (p.Met108Leu) c.64A>C (p.Met22Leu) c.601A>C (p.Met201Leu) c.80A>C n.129+16232A>C c.139A>C (p.Met47Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263958A>G | CA7722697 | FANCI | c.322A>G (p.Met108Val) c.64A>G (p.Met22Val) c.601A>G (p.Met201Val) c.80A>G n.129+16232A>G c.139A>G (p.Met47Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263958A>T | CA393739033 | FANCI | c.322A>T (p.Met108Leu) c.64A>T (p.Met22Leu) c.601A>T (p.Met201Leu) c.80A>T n.129+16232A>T c.139A>T (p.Met47Leu) | gnomAD v4 |
| 15 | g.89263959T>A | CA393739038 | FANCI | c.323T>A (p.Met108Lys) c.65T>A (p.Met22Lys) c.602T>A (p.Met201Lys) c.81T>A n.129+16233T>A c.140T>A (p.Met47Lys) | |
| 15 | g.89263959T>C | CA393739037 | FANCI | c.323T>C (p.Met108Thr) c.65T>C (p.Met22Thr) c.602T>C (p.Met201Thr) c.81T>C n.129+16233T>C c.140T>C (p.Met47Thr) | gnomAD v4 |
| 15 | g.89263959T>G | CA393739035 | FANCI | c.323T>G (p.Met108Arg) c.65T>G (p.Met22Arg) c.602T>G (p.Met201Arg) c.81T>G n.129+16233T>G c.140T>G (p.Met47Arg) | |
| 15 | g.89263960G>A | CA393739040 | FANCI | c.324G>A (p.Met108Ile) c.66G>A (p.Met22Ile) c.603G>A (p.Met201Ile) c.82G>A n.129+16234G>A c.141G>A (p.Met47Ile) | ClinVar gnomAD v4 |
| 15 | g.89263960G>C | CA393739041 | FANCI | c.324G>C (p.Met108Ile) c.66G>C (p.Met22Ile) c.603G>C (p.Met201Ile) c.82G>C n.129+16234G>C c.141G>C (p.Met47Ile) | |
| 15 | g.89263960G>T | CA393739043 | FANCI | c.324G>T (p.Met108Ile) c.66G>T (p.Met22Ile) c.603G>T (p.Met201Ile) c.82G>T n.129+16234G>T c.141G>T (p.Met47Ile) | |
| 15 | g.89263961T>A | CA393739045 | FANCI | c.325T>A (p.Phe109Ile) c.67T>A (p.Phe23Ile) c.604T>A (p.Phe202Ile) c.83T>A n.129+16235T>A c.142T>A (p.Phe48Ile) | |
| 15 | g.89263961T>C | CA393739046 | FANCI | c.325T>C (p.Phe109Leu) c.67T>C (p.Phe23Leu) c.604T>C (p.Phe202Leu) c.83T>C n.129+16235T>C c.142T>C (p.Phe48Leu) | COSMIC COSMIC |
| 15 | g.89263961T>G | CA393739048 | FANCI | c.325T>G (p.Phe109Val) c.67T>G (p.Phe23Val) c.604T>G (p.Phe202Val) c.83T>G n.129+16235T>G c.142T>G (p.Phe48Val) | |
| 15 | g.89263962T>A | CA393739050 | FANCI | c.326T>A (p.Phe109Tyr) c.68T>A (p.Phe23Tyr) c.605T>A (p.Phe202Tyr) c.84T>A n.129+16236T>A c.143T>A (p.Phe48Tyr) | |
| 15 | g.89263962T>C | CA393739051 | FANCI | c.326T>C (p.Phe109Ser) c.68T>C (p.Phe23Ser) c.605T>C (p.Phe202Ser) c.84T>C n.129+16236T>C c.143T>C (p.Phe48Ser) | |
| 15 | g.89263962T>G | CA393739053 | FANCI | c.326T>G (p.Phe109Cys) c.68T>G (p.Phe23Cys) c.605T>G (p.Phe202Cys) c.84T>G n.129+16236T>G c.143T>G (p.Phe48Cys) | |
| 15 | g.89263963C>A | CA393739054 | FANCI | c.327C>A (p.Phe109Leu) c.69C>A (p.Phe23Leu) c.606C>A (p.Phe202Leu) c.85C>A n.129+16237C>A c.144C>A (p.Phe48Leu) | |
| 15 | g.89263963C= | CA2194585735 | FANCI | c.327C= (p.Phe109=) c.69C= (p.Phe23=) c.606C= (p.Phe202=) c.85C= n.129+16237C= c.144C= (p.Phe48=) | |
| 15 | g.89263963C>G | CA393739057 | FANCI | c.327C>G (p.Phe109Leu) c.69C>G (p.Phe23Leu) c.606C>G (p.Phe202Leu) c.85C>G n.129+16237C>G c.144C>G (p.Phe48Leu) | |
| 15 | g.89263963C>T | CA10647449 | FANCI | c.327C>T (p.Phe109=) c.69C>T (p.Phe23=) c.606C>T (p.Phe202=) c.85C>T n.129+16237C>T c.144C>T (p.Phe48=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263964T>A | CA393739061 | FANCI | c.328T>A (p.Ser110Thr) c.70T>A (p.Ser24Thr) c.607T>A (p.Ser203Thr) c.86T>A n.129+16238T>A c.145T>A (p.Ser49Thr) | |
| 15 | g.89263964T>C | CA393739063 | FANCI | c.328T>C (p.Ser110Pro) c.70T>C (p.Ser24Pro) c.607T>C (p.Ser203Pro) c.86T>C n.129+16238T>C c.145T>C (p.Ser49Pro) | |
| 15 | g.89263964T>G | CA393739059 | FANCI | c.328T>G (p.Ser110Ala) c.70T>G (p.Ser24Ala) c.607T>G (p.Ser203Ala) c.86T>G n.129+16238T>G c.145T>G (p.Ser49Ala) | |
| 15 | g.89263965C>A | CA393739064 | FANCI | c.329C>A (p.Ser110Tyr) c.71C>A (p.Ser24Tyr) c.608C>A (p.Ser203Tyr) c.87C>A n.129+16239C>A c.146C>A (p.Ser49Tyr) | |
| 15 | g.89263965C>G | CA393739065 | FANCI | c.329C>G (p.Ser110Cys) c.71C>G (p.Ser24Cys) c.608C>G (p.Ser203Cys) c.87C>G n.129+16239C>G c.146C>G (p.Ser49Cys) | |
| 15 | g.89263965C>T | CA393739067 | FANCI | c.329C>T (p.Ser110Phe) c.71C>T (p.Ser24Phe) c.608C>T (p.Ser203Phe) c.87C>T n.129+16239C>T c.146C>T (p.Ser49Phe) | gnomAD v4 |
| 15 | g.89263966C>A | CA492065259 | FANCI | c.330C>A (p.Ser110=) c.72C>A (p.Ser24=) c.609C>A (p.Ser203=) c.88C>A n.129+16240C>A c.147C>A (p.Ser49=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263966C= | CA2194585739 | FANCI | c.330C= (p.Ser110=) c.72C= (p.Ser24=) c.609C= (p.Ser203=) c.88C= n.129+16240C= c.147C= (p.Ser49=) | |
| 15 | g.89263966C>G | CA492065260 | FANCI | c.330C>G (p.Ser110=) c.72C>G (p.Ser24=) c.609C>G (p.Ser203=) c.88C>G n.129+16240C>G c.147C>G (p.Ser49=) | |
| 15 | g.89263966C>T | CA7722698 | FANCI | c.330C>T (p.Ser110=) c.72C>T (p.Ser24=) c.609C>T (p.Ser203=) c.88C>T n.129+16240C>T c.147C>T (p.Ser49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263967A= | CA2194585743 | FANCI | c.331A= (p.Lys111=) c.73A= (p.Lys25=) c.610A= (p.Lys204=) c.89A= n.129+16241A= c.148A= (p.Lys50=) | |
| 15 | g.89263967A>C | CA7722699 | FANCI | c.331A>C (p.Lys111Gln) c.73A>C (p.Lys25Gln) c.610A>C (p.Lys204Gln) c.89A>C n.129+16241A>C c.148A>C (p.Lys50Gln) | dbSNP ExAC gnomAD v2 |
| 15 | g.89263967A>G | CA393739070 | FANCI | c.331A>G (p.Lys111Glu) c.73A>G (p.Lys25Glu) c.610A>G (p.Lys204Glu) c.89A>G n.129+16241A>G c.148A>G (p.Lys50Glu) | |
| 15 | g.89263967A>T | CA393739071 | FANCI | c.331A>T (p.Lys111Ter) c.73A>T (p.Lys25Ter) c.610A>T (p.Lys204Ter) c.89A>T n.129+16241A>T c.148A>T (p.Lys50Ter) | |
| 15 | g.89263968A= | CA2194585745 | FANCI | c.332A= (p.Lys111=) c.74A= (p.Lys25=) c.611A= (p.Lys204=) c.90A= n.129+16242A= c.149A= (p.Lys50=) | |
| 15 | g.89263968A>C | CA393739072 | FANCI | c.332A>C (p.Lys111Thr) c.74A>C (p.Lys25Thr) c.611A>C (p.Lys204Thr) c.90A>C n.129+16242A>C c.149A>C (p.Lys50Thr) | |
| 15 | g.89263968A>G | CA274539003 | FANCI | c.332A>G (p.Lys111Arg) c.74A>G (p.Lys25Arg) c.611A>G (p.Lys204Arg) c.90A>G n.129+16242A>G c.149A>G (p.Lys50Arg) | dbSNP |
| 15 | g.89263968A>T | CA393739074 | FANCI | c.332A>T (p.Lys111Met) c.74A>T (p.Lys25Met) c.611A>T (p.Lys204Met) c.90A>T n.129+16242A>T c.149A>T (p.Lys50Met) | |
| 15 | g.89263969G>A | CA492065264 | FANCI | c.333G>A (p.Lys111=) c.75G>A (p.Lys25=) c.612G>A (p.Lys204=) c.91G>A n.129+16243G>A c.150G>A (p.Lys50=) | |
| 15 | g.89263969G>C | CA393739076 | FANCI | c.333G>C (p.Lys111Asn) c.75G>C (p.Lys25Asn) c.612G>C (p.Lys204Asn) c.91G>C n.129+16243G>C c.150G>C (p.Lys50Asn) | |
| 15 | g.89263969G>T | CA393739077 | FANCI | c.333G>T (p.Lys111Asn) c.75G>T (p.Lys25Asn) c.612G>T (p.Lys204Asn) c.91G>T n.129+16243G>T c.150G>T (p.Lys50Asn) | |
| 15 | g.89263970A>C | CA393739081 | FANCI | c.334A>C (p.Met112Leu) c.76A>C (p.Met26Leu) c.613A>C (p.Met205Leu) c.92A>C n.129+16244A>C c.151A>C (p.Met51Leu) | |
| 15 | g.89263970A>G | CA393739082 | FANCI | c.334A>G (p.Met112Val) c.76A>G (p.Met26Val) c.613A>G (p.Met205Val) c.92A>G n.129+16244A>G c.151A>G (p.Met51Val) | gnomAD v4 |
| 15 | g.89263970A>T | CA393739079 | FANCI | c.334A>T (p.Met112Leu) c.76A>T (p.Met26Leu) c.613A>T (p.Met205Leu) c.92A>T n.129+16244A>T c.151A>T (p.Met51Leu) | |
| 15 | g.89263971T>A | CA393739084 | FANCI | c.335T>A (p.Met112Lys) c.77T>A (p.Met26Lys) c.614T>A (p.Met205Lys) c.93T>A n.129+16245T>A c.152T>A (p.Met51Lys) | |
| 15 | g.89263971T>C | CA393739086 | FANCI | c.335T>C (p.Met112Thr) c.77T>C (p.Met26Thr) c.614T>C (p.Met205Thr) c.93T>C n.129+16245T>C c.152T>C (p.Met51Thr) | |
| 15 | g.89263971T>G | CA7722700 | FANCI | c.335T>G (p.Met112Arg) c.77T>G (p.Met26Arg) c.614T>G (p.Met205Arg) c.93T>G n.129+16245T>G c.152T>G (p.Met51Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263971T= | CA2194585748 | FANCI | c.335T= (p.Met112=) c.77T= (p.Met26=) c.614T= (p.Met205=) c.93T= n.129+16245T= c.152T= (p.Met51=) | |
| 15 | g.89263972G>A | CA393739088 | FANCI | c.336G>A (p.Met112Ile) c.78G>A (p.Met26Ile) c.615G>A (p.Met205Ile) c.94G>A n.129+16246G>A c.153G>A (p.Met51Ile) | gnomAD v4 |
| 15 | g.89263972G>C | CA393739090 | FANCI | c.336G>C (p.Met112Ile) c.78G>C (p.Met26Ile) c.615G>C (p.Met205Ile) c.94G>C n.129+16246G>C c.153G>C (p.Met51Ile) | ClinVar |
| 15 | g.89263972G>T | CA393739092 | FANCI | c.336G>T (p.Met112Ile) c.78G>T (p.Met26Ile) c.615G>T (p.Met205Ile) c.94G>T n.129+16246G>T c.153G>T (p.Met51Ile) | |
| 15 | g.89263973A>C | CA393739095 | FANCI | c.337A>C (p.Asn113His) c.79A>C (p.Asn27His) c.616A>C (p.Asn206His) c.95A>C n.129+16247A>C c.154A>C (p.Asn52His) | |
| 15 | g.89263973A>G | CA393739093 | FANCI | c.337A>G (p.Asn113Asp) c.79A>G (p.Asn27Asp) c.616A>G (p.Asn206Asp) c.95A>G n.129+16247A>G c.154A>G (p.Asn52Asp) | gnomAD v4 |
| 15 | g.89263973A>T | CA393739094 | FANCI | c.337A>T (p.Asn113Tyr) c.79A>T (p.Asn27Tyr) c.616A>T (p.Asn206Tyr) c.95A>T n.129+16247A>T c.154A>T (p.Asn52Tyr) | gnomAD v4 |
| 15 | g.89263974A>C | CA393739096 | FANCI | c.338A>C (p.Asn113Thr) c.80A>C (p.Asn27Thr) c.617A>C (p.Asn206Thr) c.96A>C n.129+16248A>C c.155A>C (p.Asn52Thr) | |
| 15 | g.89263974A>G | CA393739098 | FANCI | c.338A>G (p.Asn113Ser) c.80A>G (p.Asn27Ser) c.617A>G (p.Asn206Ser) c.96A>G n.129+16248A>G c.155A>G (p.Asn52Ser) | |
| 15 | g.89263974A>T | CA393739099 | FANCI | c.338A>T (p.Asn113Ile) c.80A>T (p.Asn27Ile) c.617A>T (p.Asn206Ile) c.96A>T n.129+16248A>T c.155A>T (p.Asn52Ile) | |
| 15 | g.89263975T>A | CA393739101 | FANCI | c.339T>A (p.Asn113Lys) c.81T>A (p.Asn27Lys) c.618T>A (p.Asn206Lys) c.97T>A n.129+16249T>A c.156T>A (p.Asn52Lys) | |
| 15 | g.89263975T>C | CA492065280 | FANCI | c.339T>C (p.Asn113=) c.81T>C (p.Asn27=) c.618T>C (p.Asn206=) c.97T>C n.129+16249T>C c.156T>C (p.Asn52=) | |
| 15 | g.89263975T>G | CA393739102 | FANCI | c.339T>G (p.Asn113Lys) c.81T>G (p.Asn27Lys) c.618T>G (p.Asn206Lys) c.97T>G n.129+16249T>G c.156T>G (p.Asn52Lys) | |
| 15 | g.89263976C>A | CA393739106 | FANCI | c.340C>A (p.Leu114Ile) c.82C>A (p.Leu28Ile) c.619C>A (p.Leu207Ile) c.98C>A n.129+16250C>A c.157C>A (p.Leu53Ile) | |
| 15 | g.89263976C= | CA2194585751 | FANCI | c.340C= (p.Leu114=) c.82C= (p.Leu28=) c.619C= (p.Leu207=) c.98C= n.129+16250C= c.157C= (p.Leu53=) | |
| 15 | g.89263976C>G | CA393739104 | FANCI | c.340C>G (p.Leu114Val) c.82C>G (p.Leu28Val) c.619C>G (p.Leu207Val) c.98C>G n.129+16250C>G c.157C>G (p.Leu53Val) | gnomAD v4 |
| 15 | g.89263976C>T | CA7722701 | FANCI | c.340C>T (p.Leu114Phe) c.82C>T (p.Leu28Phe) c.619C>T (p.Leu207Phe) c.98C>T n.129+16250C>T c.157C>T (p.Leu53Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263977T>A | CA7722702 | FANCI | c.341T>A (p.Leu114His) c.83T>A (p.Leu28His) c.620T>A (p.Leu207His) c.99T>A n.129+16251T>A c.158T>A (p.Leu53His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263977T>C | CA393739110 | FANCI | c.341T>C (p.Leu114Pro) c.83T>C (p.Leu28Pro) c.620T>C (p.Leu207Pro) c.99T>C n.129+16251T>C c.158T>C (p.Leu53Pro) | |
| 15 | g.89263977T>G | CA393739108 | FANCI | c.341T>G (p.Leu114Arg) c.83T>G (p.Leu28Arg) c.620T>G (p.Leu207Arg) c.99T>G n.129+16251T>G c.158T>G (p.Leu53Arg) | |
| 15 | g.89263977T= | CA2194585755 | FANCI | c.341T= (p.Leu114=) c.83T= (p.Leu28=) c.620T= (p.Leu207=) c.99T= n.129+16251T= c.158T= (p.Leu53=) | |
| 15 | g.89263978T>A | CA492065296 | FANCI | c.342T>A (p.Leu114=) c.84T>A (p.Leu28=) c.621T>A (p.Leu207=) c.100T>A n.129+16252T>A c.159T>A (p.Leu53=) | |
| 15 | g.89263978T>C | CA492065294 | FANCI | c.342T>C (p.Leu114=) c.84T>C (p.Leu28=) c.621T>C (p.Leu207=) c.100T>C n.129+16252T>C c.159T>C (p.Leu53=) | |
| 15 | g.89263978T>G | CA492065292 | FANCI | c.342T>G (p.Leu114=) c.84T>G (p.Leu28=) c.621T>G (p.Leu207=) c.100T>G n.129+16252T>G c.159T>G (p.Leu53=) | |
| 15 | g.89263979C>A | CA393739112 | FANCI | c.343C>A (p.Gln115Lys) c.85C>A (p.Gln29Lys) c.622C>A (p.Gln208Lys) c.101C>A n.129+16253C>A c.160C>A (p.Gln54Lys) | |
| 15 | g.89263979C>G | CA393739115 | FANCI | c.343C>G (p.Gln115Glu) c.85C>G (p.Gln29Glu) c.622C>G (p.Gln208Glu) c.101C>G n.129+16253C>G c.160C>G (p.Gln54Glu) | COSMIC COSMIC |
| 15 | g.89263979C>T | CA393739113 | FANCI | c.343C>T (p.Gln115Ter) c.85C>T (p.Gln29Ter) c.622C>T (p.Gln208Ter) c.101C>T n.129+16253C>T c.160C>T (p.Gln54Ter) | |
| 15 | g.89263980A= | CA2194585758 | FANCI | c.344A= (p.Gln115=) c.86A= (p.Gln29=) c.623A= (p.Gln208=) c.102A= n.129+16254A= c.161A= (p.Gln54=) | |
| 15 | g.89263980A>C | CA393739116 | FANCI | c.344A>C (p.Gln115Pro) c.86A>C (p.Gln29Pro) c.623A>C (p.Gln208Pro) c.102A>C n.129+16254A>C c.161A>C (p.Gln54Pro) | gnomAD v4 |
| 15 | g.89263980A>G | CA274539027 | FANCI | c.344A>G (p.Gln115Arg) c.86A>G (p.Gln29Arg) c.623A>G (p.Gln208Arg) c.102A>G n.129+16254A>G c.161A>G (p.Gln54Arg) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263980A>T | CA393739118 | FANCI | c.344A>T (p.Gln115Leu) c.86A>T (p.Gln29Leu) c.623A>T (p.Gln208Leu) c.102A>T n.129+16254A>T c.161A>T (p.Gln54Leu) | |
| 15 | g.89263981A= | CA2194585760 | FANCI | c.345A= (p.Gln115=) c.87A= (p.Gln29=) c.624A= (p.Gln208=) c.103A= n.129+16255A= c.162A= (p.Gln54=) | |
| 15 | g.89263981A>C | CA393739120 | FANCI | c.345A>C (p.Gln115His) c.87A>C (p.Gln29His) c.624A>C (p.Gln208His) c.103A>C n.129+16255A>C c.162A>C (p.Gln54His) | |
| 15 | g.89263981A>G | CA492065306 | FANCI | c.345A>G (p.Gln115=) c.87A>G (p.Gln29=) c.624A>G (p.Gln208=) c.103A>G n.129+16255A>G c.162A>G (p.Gln54=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263981A>T | CA393739122 | FANCI | c.345A>T (p.Gln115His) c.87A>T (p.Gln29His) c.624A>T (p.Gln208His) c.103A>T n.129+16255A>T c.162A>T (p.Gln54His) | |
| 15 | g.89263982G>A | CA393739123 | FANCI | c.346G>A (p.Glu116Lys) c.88G>A (p.Glu30Lys) c.625G>A (p.Glu209Lys) c.104G>A n.129+16256G>A c.163G>A (p.Glu55Lys) | COSMIC COSMIC |
| 15 | g.89263982G>C | CA7722703 | FANCI | c.346G>C (p.Glu116Gln) c.88G>C (p.Glu30Gln) c.625G>C (p.Glu209Gln) c.104G>C n.129+16256G>C c.163G>C (p.Glu55Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263982G= | CA2194585764 | FANCI | c.346G= (p.Glu116=) c.88G= (p.Glu30=) c.625G= (p.Glu209=) c.104G= n.129+16256G= c.163G= (p.Glu55=) | |
| 15 | g.89263982G>T | CA393739125 | FANCI | c.346G>T (p.Glu116Ter) c.88G>T (p.Glu30Ter) c.625G>T (p.Glu209Ter) c.104G>T n.129+16256G>T c.163G>T (p.Glu55Ter) | |
| 15 | g.89263983A>C | CA393739126 | FANCI | c.347A>C (p.Glu116Ala) c.89A>C (p.Glu30Ala) c.626A>C (p.Glu209Ala) c.105A>C n.129+16257A>C c.164A>C (p.Glu55Ala) | |
| 15 | g.89263983A>G | CA393739127 | FANCI | c.347A>G (p.Glu116Gly) c.89A>G (p.Glu30Gly) c.626A>G (p.Glu209Gly) c.105A>G n.129+16257A>G c.164A>G (p.Glu55Gly) | |
| 15 | g.89263983A>T | CA393739128 | FANCI | c.347A>T (p.Glu116Val) c.89A>T (p.Glu30Val) c.626A>T (p.Glu209Val) c.105A>T n.129+16257A>T c.164A>T (p.Glu55Val) | |
| 15 | g.89263984A>C | CA393739129 | FANCI | c.348A>C (p.Glu116Asp) c.90A>C (p.Glu30Asp) c.627A>C (p.Glu209Asp) c.106A>C n.129+16258A>C c.165A>C (p.Glu55Asp) | |
| 15 | g.89263984A>G | CA492065320 | FANCI | c.348A>G (p.Glu116=) c.90A>G (p.Glu30=) c.627A>G (p.Glu209=) c.106A>G n.129+16258A>G c.165A>G (p.Glu55=) | |
| 15 | g.89263984A>T | CA393739131 | FANCI | c.348A>T (p.Glu116Asp) c.90A>T (p.Glu30Asp) c.627A>T (p.Glu209Asp) c.106A>T n.129+16258A>T c.165A>T (p.Glu55Asp) | |
| 15 | g.89263985A= | CA2194585766 | FANCI | c.349A= (p.Ile117=) c.91A= (p.Ile31=) c.628A= (p.Ile210=) c.107A= n.129+16259A= c.166A= (p.Ile56=) | |
| 15 | g.89263985A>C | CA393739134 | FANCI | c.349A>C (p.Ile117Leu) c.91A>C (p.Ile31Leu) c.628A>C (p.Ile210Leu) c.107A>C n.129+16259A>C c.166A>C (p.Ile56Leu) | |
| 15 | g.89263985A>G | CA7722704 | FANCI | c.349A>G (p.Ile117Val) c.91A>G (p.Ile31Val) c.628A>G (p.Ile210Val) c.107A>G n.129+16259A>G c.166A>G (p.Ile56Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263985A>T | CA393739132 | FANCI | c.349A>T (p.Ile117Leu) c.91A>T (p.Ile31Leu) c.628A>T (p.Ile210Leu) c.107A>T n.129+16259A>T c.166A>T (p.Ile56Leu) | |
| 15 | g.89263986T>A | CA393739135 | FANCI | c.350T>A (p.Ile117Lys) c.92T>A (p.Ile31Lys) c.629T>A (p.Ile210Lys) c.108T>A n.129+16260T>A c.167T>A (p.Ile56Lys) | |
| 15 | g.89263986T>C | CA393739137 | FANCI | c.350T>C (p.Ile117Thr) c.92T>C (p.Ile31Thr) c.629T>C (p.Ile210Thr) c.108T>C n.129+16260T>C c.167T>C (p.Ile56Thr) | COSMIC COSMIC |
| 15 | g.89263986T>G | CA393739139 | FANCI | c.350T>G (p.Ile117Arg) c.92T>G (p.Ile31Arg) c.629T>G (p.Ile210Arg) c.108T>G n.129+16260T>G c.167T>G (p.Ile56Arg) | |
| 15 | g.89263987A>C | CA492065331 | FANCI | c.351A>C (p.Ile117=) c.93A>C (p.Ile31=) c.630A>C (p.Ile210=) c.109A>C n.129+16261A>C c.168A>C (p.Ile56=) | |
| 15 | g.89263987A>G | CA393739140 | FANCI | c.351A>G (p.Ile117Met) c.93A>G (p.Ile31Met) c.630A>G (p.Ile210Met) c.109A>G n.129+16261A>G c.168A>G (p.Ile56Met) | |
| 15 | g.89263987A>T | CA492065335 | FANCI | c.351A>T (p.Ile117=) c.93A>T (p.Ile31=) c.630A>T (p.Ile210=) c.109A>T n.129+16261A>T c.168A>T (p.Ile56=) | |
| 15 | g.89263987dup | CA2739269646 | FANCI | c.351dup (p.Pro118ThrfsTer?) c.93dup (p.Pro32ThrfsTer?) c.630dup (p.Pro211ThrfsTer?) c.109dup n.129+16261dup c.168dup (p.Pro57ThrfsTer?) | ClinVar |
| 15 | g.89263988C>A | CA393739142 | FANCI | c.352C>A (p.Pro118Thr) c.94C>A (p.Pro32Thr) c.631C>A (p.Pro211Thr) c.110C>A n.129+16262C>A c.169C>A (p.Pro57Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89263988C= | CA2194585769 | FANCI | c.352C= (p.Pro118=) c.94C= (p.Pro32=) c.631C= (p.Pro211=) c.110C= n.129+16262C= c.169C= (p.Pro57=) | |
| 15 | g.89263988C>G | CA393739144 | FANCI | c.352C>G (p.Pro118Ala) c.94C>G (p.Pro32Ala) c.631C>G (p.Pro211Ala) c.110C>G n.129+16262C>G c.169C>G (p.Pro57Ala) | |
| 15 | g.89263988C>T | CA393739145 | FANCI | c.352C>T (p.Pro118Ser) c.94C>T (p.Pro32Ser) c.631C>T (p.Pro211Ser) c.110C>T n.129+16262C>T c.169C>T (p.Pro57Ser) | dbSNP |
| 15 | g.89263989del | CA2580090175 | FANCI | c.353del (p.Pro118HisfsTer24) c.95del (p.Pro32HisfsTer24) c.632del (p.Pro211HisfsTer24) c.111del c.632del (p.Pro211HisfsTer?) n.129+16263del c.170del (p.Pro57HisfsTer24) | ClinVar |
| 15 | g.89263989C>A | CA393739146 | FANCI | c.353C>A (p.Pro118Gln) c.95C>A (p.Pro32Gln) c.632C>A (p.Pro211Gln) c.111C>A n.129+16263C>A c.170C>A (p.Pro57Gln) | |
| 15 | g.89263989C>G | CA393739148 | FANCI | c.353C>G (p.Pro118Arg) c.95C>G (p.Pro32Arg) c.632C>G (p.Pro211Arg) c.111C>G n.129+16263C>G c.170C>G (p.Pro57Arg) | |
| 15 | g.89263989C>T | CA393739149 | FANCI | c.353C>T (p.Pro118Leu) c.95C>T (p.Pro32Leu) c.632C>T (p.Pro211Leu) c.111C>T n.129+16263C>T c.170C>T (p.Pro57Leu) | |
| 15 | g.89263990A= | CA2194585771 | FANCI | c.354A= (p.Pro118=) c.96A= (p.Pro32=) c.633A= (p.Pro211=) c.112A= n.129+16264A= c.171A= (p.Pro57=) | |
| 15 | g.89263990A>C | CA492065347 | FANCI | c.354A>C (p.Pro118=) c.96A>C (p.Pro32=) c.633A>C (p.Pro211=) c.112A>C n.129+16264A>C c.171A>C (p.Pro57=) | |
| 15 | g.89263990A>G | CA492065353 | FANCI | c.354A>G (p.Pro118=) c.96A>G (p.Pro32=) c.633A>G (p.Pro211=) c.112A>G n.129+16264A>G c.171A>G (p.Pro57=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263990A>T | CA492065350 | FANCI | c.354A>T (p.Pro118=) c.96A>T (p.Pro32=) c.633A>T (p.Pro211=) c.112A>T n.129+16264A>T c.171A>T (p.Pro57=) | dbSNP |
| 15 | g.89263991C>A | CA393739151 | FANCI | c.355C>A (p.Pro119Thr) c.97C>A (p.Pro33Thr) c.634C>A (p.Pro212Thr) c.113C>A n.129+16265C>A c.172C>A (p.Pro58Thr) | |
| 15 | g.89263991C>G | CA393739153 | FANCI | c.355C>G (p.Pro119Ala) c.97C>G (p.Pro33Ala) c.634C>G (p.Pro212Ala) c.113C>G n.129+16265C>G c.172C>G (p.Pro58Ala) | |
| 15 | g.89263991C>T | CA393739154 | FANCI | c.355C>T (p.Pro119Ser) c.97C>T (p.Pro33Ser) c.634C>T (p.Pro212Ser) c.113C>T n.129+16265C>T c.172C>T (p.Pro58Ser) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263992C>A | CA393739157 | FANCI | c.356C>A (p.Pro119His) c.98C>A (p.Pro33His) c.635C>A (p.Pro212His) c.114C>A n.129+16266C>A c.173C>A (p.Pro58His) | COSMIC COSMIC |
| 15 | g.89263992C= | CA2194585775 | FANCI | c.356C= (p.Pro119=) c.98C= (p.Pro33=) c.635C= (p.Pro212=) c.114C= n.129+16266C= c.173C= (p.Pro58=) | |
| 15 | g.89263992C>G | CA274539034 | FANCI | c.356C>G (p.Pro119Arg) c.98C>G (p.Pro33Arg) c.635C>G (p.Pro212Arg) c.114C>G n.129+16266C>G c.173C>G (p.Pro58Arg) | dbSNP gnomAD v4 |
| 15 | g.89263992C>T | CA393739155 | FANCI | c.356C>T (p.Pro119Leu) c.98C>T (p.Pro33Leu) c.635C>T (p.Pro212Leu) c.114C>T n.129+16266C>T c.173C>T (p.Pro58Leu) | |
| 15 | g.89263993T>A | CA492065368 | FANCI | c.357T>A (p.Pro119=) c.99T>A (p.Pro33=) c.636T>A (p.Pro212=) c.115T>A n.129+16267T>A c.174T>A (p.Pro58=) | |
| 15 | g.89263993T>C | CA492065369 | FANCI | c.357T>C (p.Pro119=) c.99T>C (p.Pro33=) c.636T>C (p.Pro212=) c.115T>C n.129+16267T>C c.174T>C (p.Pro58=) | |
| 15 | g.89263993T>G | CA492065371 | FANCI | c.357T>G (p.Pro119=) c.99T>G (p.Pro33=) c.636T>G (p.Pro212=) c.115T>G n.129+16267T>G c.174T>G (p.Pro58=) | |
| 15 | g.89263994T>A | CA393739158 | FANCI | c.358T>A (p.Leu120Met) c.100T>A (p.Leu34Met) c.637T>A (p.Leu213Met) c.116T>A n.129+16268T>A c.175T>A (p.Leu59Met) | |
| 15 | g.89263994T>C | CA492065376 | FANCI | c.358T>C (p.Leu120=) c.100T>C (p.Leu34=) c.637T>C (p.Leu213=) c.116T>C n.129+16268T>C c.175T>C (p.Leu59=) | |
| 15 | g.89263994T>G | CA393739159 | FANCI | c.358T>G (p.Leu120Val) c.100T>G (p.Leu34Val) c.637T>G (p.Leu213Val) c.116T>G n.129+16268T>G c.175T>G (p.Leu59Val) | |
| 15 | g.89263995T>A | CA393739161 | FANCI | c.359T>A (p.Leu120Ter) c.101T>A (p.Leu34Ter) c.638T>A (p.Leu213Ter) c.117T>A n.129+16269T>A c.176T>A (p.Leu59Ter) | |
| 15 | g.89263995T>C | CA393739163 | FANCI | c.359T>C (p.Leu120Ser) c.101T>C (p.Leu34Ser) c.638T>C (p.Leu213Ser) c.117T>C n.129+16269T>C c.176T>C (p.Leu59Ser) | |
| 15 | g.89263995T>G | CA393739164 | FANCI | c.359T>G (p.Leu120Trp) c.101T>G (p.Leu34Trp) c.638T>G (p.Leu213Trp) c.117T>G n.129+16269T>G c.176T>G (p.Leu59Trp) | |
| 15 | g.89263996G>A | CA492065385 | FANCI | c.360G>A (p.Leu120=) c.102G>A (p.Leu34=) c.639G>A (p.Leu213=) c.118G>A n.129+16270G>A c.177G>A (p.Leu59=) | |
| 15 | g.89263996G>C | CA393739165 | FANCI | c.360G>C (p.Leu120Phe) c.102G>C (p.Leu34Phe) c.639G>C (p.Leu213Phe) c.118G>C n.129+16270G>C c.177G>C (p.Leu59Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89263996G= | CA2194585779 | FANCI | c.360G= (p.Leu120=) c.102G= (p.Leu34=) c.639G= (p.Leu213=) c.118G= n.129+16270G= c.177G= (p.Leu59=) | |
| 15 | g.89263996G>T | CA393739167 | FANCI | c.360G>T (p.Leu120Phe) c.102G>T (p.Leu34Phe) c.639G>T (p.Leu213Phe) c.118G>T n.129+16270G>T c.177G>T (p.Leu59Phe) | |
| 15 | g.89263997G>A | CA393739169 | FANCI | c.361G>A (p.Val121Ile) c.103G>A (p.Val35Ile) c.640G>A (p.Val214Ile) c.119G>A n.129+16271G>A c.178G>A (p.Val60Ile) | gnomAD v4 |
| 15 | g.89263997G>C | CA393739171 | FANCI | c.361G>C (p.Val121Leu) c.103G>C (p.Val35Leu) c.640G>C (p.Val214Leu) c.119G>C n.129+16271G>C c.178G>C (p.Val60Leu) | gnomAD v4 |
| 15 | g.89263997G>T | CA393739172 | FANCI | c.361G>T (p.Val121Phe) c.103G>T (p.Val35Phe) c.640G>T (p.Val214Phe) c.119G>T n.129+16271G>T c.178G>T (p.Val60Phe) | |
| 15 | g.89263998T>A | CA393739174 | FANCI | c.362T>A (p.Val121Asp) c.104T>A (p.Val35Asp) c.641T>A (p.Val214Asp) c.120T>A n.129+16272T>A c.179T>A (p.Val60Asp) | |
| 15 | g.89263998T>C | CA7722705 | FANCI | c.362T>C (p.Val121Ala) c.104T>C (p.Val35Ala) c.641T>C (p.Val214Ala) c.120T>C n.129+16272T>C c.179T>C (p.Val60Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89263998T>G | CA393739176 | FANCI | c.362T>G (p.Val121Gly) c.104T>G (p.Val35Gly) c.641T>G (p.Val214Gly) c.120T>G n.129+16272T>G c.179T>G (p.Val60Gly) | |
| 15 | g.89263998T= | CA2194585783 | FANCI | c.362T= (p.Val121=) c.104T= (p.Val35=) c.641T= (p.Val214=) c.120T= n.129+16272T= c.179T= (p.Val60=) | |
| 15 | g.89263999C>A | CA492065404 | FANCI | c.363C>A (p.Val121=) c.105C>A (p.Val35=) c.642C>A (p.Val214=) c.121C>A n.129+16273C>A c.180C>A (p.Val60=) | |
| 15 | g.89263999C= | CA2194585788 | FANCI | c.363C= (p.Val121=) c.105C= (p.Val35=) c.642C= (p.Val214=) c.121C= n.129+16273C= c.180C= (p.Val60=) | |
| 15 | g.89263999C>G | CA492065407 | FANCI | c.363C>G (p.Val121=) c.105C>G (p.Val35=) c.642C>G (p.Val214=) c.121C>G n.129+16273C>G c.180C>G (p.Val60=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89263999C>T | CA492065402 | FANCI | c.363C>T (p.Val121=) c.105C>T (p.Val35=) c.642C>T (p.Val214=) c.121C>T n.129+16273C>T c.180C>T (p.Val60=) | |
| 15 | g.89264000T>A | CA393739178 | FANCI | c.364T>A (p.Tyr122Asn) c.106T>A (p.Tyr36Asn) c.643T>A (p.Tyr215Asn) c.122T>A n.129+16274T>A c.181T>A (p.Tyr61Asn) | |
| 15 | g.89264000T>C | CA393739181 | FANCI | c.364T>C (p.Tyr122His) c.106T>C (p.Tyr36His) c.643T>C (p.Tyr215His) c.122T>C n.129+16274T>C c.181T>C (p.Tyr61His) | |
| 15 | g.89264000T>G | CA393739180 | FANCI | c.364T>G (p.Tyr122Asp) c.106T>G (p.Tyr36Asp) c.643T>G (p.Tyr215Asp) c.122T>G n.129+16274T>G c.181T>G (p.Tyr61Asp) | |
| 15 | g.89264001A= | CA2194585791 | FANCI | c.365A= (p.Tyr122=) c.107A= (p.Tyr36=) c.644A= (p.Tyr215=) c.123A= n.129+16275A= c.182A= (p.Tyr61=) | |
| 15 | g.89264001A>C | CA393739183 | FANCI | c.365A>C (p.Tyr122Ser) c.107A>C (p.Tyr36Ser) c.644A>C (p.Tyr215Ser) c.123A>C n.129+16275A>C c.182A>C (p.Tyr61Ser) | |
| 15 | g.89264001A>G | CA7722706 | FANCI | c.365A>G (p.Tyr122Cys) c.107A>G (p.Tyr36Cys) c.644A>G (p.Tyr215Cys) c.123A>G n.129+16275A>G c.182A>G (p.Tyr61Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89264001A>T | CA393739185 | FANCI | c.365A>T (p.Tyr122Phe) c.107A>T (p.Tyr36Phe) c.644A>T (p.Tyr215Phe) c.123A>T n.129+16275A>T c.182A>T (p.Tyr61Phe) | |
| 15 | g.89264002T>A | CA393739186 | FANCI | c.366T>A (p.Tyr122Ter) c.108T>A (p.Tyr36Ter) c.645T>A (p.Tyr215Ter) c.124T>A n.129+16276T>A c.183T>A (p.Tyr61Ter) | |
| 15 | g.89264002T>C | CA492065421 | FANCI | c.366T>C (p.Tyr122=) c.108T>C (p.Tyr36=) c.645T>C (p.Tyr215=) c.124T>C n.129+16276T>C c.183T>C (p.Tyr61=) | gnomAD v4 |
| 15 | g.89264002T>G | CA393739188 | FANCI | c.366T>G (p.Tyr122Ter) c.108T>G (p.Tyr36Ter) c.645T>G (p.Tyr215Ter) c.124T>G n.129+16276T>G c.183T>G (p.Tyr61Ter) | |
| 15 | g.89264003C>A | CA393739190 | FANCI | c.367C>A (p.Gln123Lys) c.109C>A (p.Gln37Lys) c.646C>A (p.Gln216Lys) c.125C>A c.646C>A n.129+16277C>A c.184C>A (p.Gln62Lys) | gnomAD v4 |
| 15 | g.89264003C= | CA2194585795 | FANCI | c.367C= (p.Gln123=) c.109C= (p.Gln37=) c.646C= (p.Gln216=) c.125C= c.646C= n.129+16277C= c.184C= (p.Gln62=) | |
| 15 | g.89264003C>G | CA393739191 | FANCI | c.367C>G (p.Gln123Glu) c.109C>G (p.Gln37Glu) c.646C>G (p.Gln216Glu) c.125C>G c.646C>G n.129+16277C>G c.184C>G (p.Gln62Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89264003C>T | CA393739193 | FANCI | c.367C>T (p.Gln123Ter) c.109C>T (p.Gln37Ter) c.646C>T (p.Gln216Ter) c.125C>T c.646C>T n.129+16277C>T c.184C>T (p.Gln62Ter) | |
| 15 | g.89264004A>C | CA393739195 | FANCI | c.368A>C (p.Gln123Pro) c.110A>C (p.Gln37Pro) c.647A>C (p.Gln216Pro) c.126A>C c.647A>C n.129+16278A>C c.185A>C (p.Gln62Pro) | |
| 15 | g.89264004A>G | CA393739196 | FANCI | c.368A>G (p.Gln123Arg) c.110A>G (p.Gln37Arg) c.647A>G (p.Gln216Arg) c.126A>G c.647A>G n.129+16278A>G c.185A>G (p.Gln62Arg) | |
| 15 | g.89264004A>T | CA393739198 | FANCI | c.368A>T (p.Gln123Leu) c.110A>T (p.Gln37Leu) c.647A>T (p.Gln216Leu) c.126A>T c.647A>T n.129+16278A>T c.185A>T (p.Gln62Leu) | |
| 15 | g.89264005G>A | CA492065437 | FANCI | c.369G>A (p.Gln123=) c.111G>A (p.Gln37=) c.648G>A (p.Gln216=) c.127G>A n.129+16279G>A c.186G>A (p.Gln62=) | |
| 15 | g.89264005G>C | CA393739201 | FANCI | c.369G>C (p.Gln123His) c.111G>C (p.Gln37His) c.648G>C (p.Gln216His) c.127G>C n.129+16279G>C c.186G>C (p.Gln62His) | gnomAD v4 |
| 15 | g.89264005G= | CA2194585797 | FANCI | c.369G= (p.Gln123=) c.111G= (p.Gln37=) c.648G= (p.Gln216=) c.127G= n.129+16279G= c.186G= (p.Gln62=) | |
| 15 | g.89264005G>T | CA393739199 | FANCI | c.369G>T (p.Gln123His) c.111G>T (p.Gln37His) c.648G>T (p.Gln216His) c.127G>T n.129+16279G>T c.186G>T (p.Gln62His) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89264006C>A | CA393739203 | FANCI | c.370C>A (p.Leu124Ile) c.112C>A (p.Leu38Ile) c.649C>A (p.Leu217Ile) c.128C>A n.129+16280C>A c.187C>A (p.Leu63Ile) | |
| 15 | g.89264006C= | CA2194585802 | FANCI | c.370C= (p.Leu124=) c.112C= (p.Leu38=) c.649C= (p.Leu217=) c.128C= n.129+16280C= c.187C= (p.Leu63=) | |
| 15 | g.89264006C>G | CA393739205 | FANCI | c.370C>G (p.Leu124Val) c.112C>G (p.Leu38Val) c.649C>G (p.Leu217Val) c.128C>G n.129+16280C>G c.187C>G (p.Leu63Val) | |
| 15 | g.89264006C>T | CA393739206 | FANCI | c.370C>T (p.Leu124Phe) c.112C>T (p.Leu38Phe) c.649C>T (p.Leu217Phe) c.128C>T n.129+16280C>T c.187C>T (p.Leu63Phe) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89264007T>A | CA393739207 | FANCI | c.371T>A (p.Leu124His) c.113T>A (p.Leu38His) c.650T>A (p.Leu217His) c.129T>A n.129+16281T>A c.188T>A (p.Leu63His) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89264007T>C | CA393739209 | FANCI | c.371T>C (p.Leu124Pro) c.113T>C (p.Leu38Pro) c.650T>C (p.Leu217Pro) c.129T>C n.129+16281T>C c.188T>C (p.Leu63Pro) | |
| 15 | g.89264007T>G | CA393739211 | FANCI | c.371T>G (p.Leu124Arg) c.113T>G (p.Leu38Arg) c.650T>G (p.Leu217Arg) c.129T>G n.129+16281T>G c.188T>G (p.Leu63Arg) | |
| 15 | g.89264007T= | CA2194585806 | FANCI | c.371T= (p.Leu124=) c.113T= (p.Leu38=) c.650T= (p.Leu217=) c.129T= n.129+16281T= c.188T= (p.Leu63=) | |
| 15 | g.89264007_89264008del | CA2630246348 | FANCI | c.371_372del (p.Leu124ProfsTer25) c.113_114del (p.Leu38ProfsTer25) c.650_651del (p.Leu217ProfsTer25) c.129_130del c.650_651del (p.Leu217ProfsTer?) n.129+16281_129+16282del c.188_189del (p.Leu63ProfsTer25) | gnomAD v4 |
| 15 | g.89264008T>A | CA492065454 | FANCI | c.372T>A (p.Leu124=) c.114T>A (p.Leu38=) c.651T>A (p.Leu217=) c.130T>A n.129+16282T>A c.189T>A (p.Leu63=) | |
| 15 | g.89264008T>C | CA492065456 | FANCI | c.372T>C (p.Leu124=) c.114T>C (p.Leu38=) c.651T>C (p.Leu217=) c.130T>C n.129+16282T>C c.189T>C (p.Leu63=) | |
| 15 | g.89264008T>G | CA7722707 | FANCI | c.372T>G (p.Leu124=) c.114T>G (p.Leu38=) c.651T>G (p.Leu217=) c.130T>G n.129+16282T>G c.189T>G (p.Leu63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89264008T= | CA2194585809 | FANCI | c.372T= (p.Leu124=) c.114T= (p.Leu38=) c.651T= (p.Leu217=) c.130T= n.129+16282T= c.189T= (p.Leu63=) | |
| 15 | g.89264009C>A | CA393739213 | FANCI | c.373C>A (p.Leu125Met) c.115C>A (p.Leu39Met) c.652C>A (p.Leu218Met) c.131C>A n.129+16283C>A c.190C>A (p.Leu64Met) | |
| 15 | g.89264009C>G | CA393739212 | FANCI | c.373C>G (p.Leu125Val) c.115C>G (p.Leu39Val) c.652C>G (p.Leu218Val) c.131C>G n.129+16283C>G c.190C>G (p.Leu64Val) | |
| 15 | g.89264009C>T | CA492065460 | FANCI | c.373C>T (p.Leu125=) c.115C>T (p.Leu39=) c.652C>T (p.Leu218=) c.131C>T n.129+16283C>T c.190C>T (p.Leu64=) | |
| 15 | g.89264010T>A | CA393739215 | FANCI | c.374T>A (p.Leu125Gln) c.116T>A (p.Leu39Gln) c.653T>A (p.Leu218Gln) c.132T>A n.129+16284T>A c.191T>A (p.Leu64Gln) | |
| 15 | g.89264010T>C | CA393739217 | FANCI | c.374T>C (p.Leu125Pro) c.116T>C (p.Leu39Pro) c.653T>C (p.Leu218Pro) c.132T>C n.129+16284T>C c.191T>C (p.Leu64Pro) | |
| 15 | g.89264010T>G | CA393739218 | FANCI | c.374T>G (p.Leu125Arg) c.116T>G (p.Leu39Arg) c.653T>G (p.Leu218Arg) c.132T>G n.129+16284T>G c.191T>G (p.Leu64Arg) | |
| 15 | g.89264011_89264013del | CA2630246351 | FANCI | c.375_377del (p.Val126del) c.117_119del (p.Val40del) c.654_656del (p.Val219del) c.133_135del n.129+16285_129+16287del c.192_194del (p.Val65del) | gnomAD v4 |
| 15 | g.89264011G>A | CA492065472 | FANCI | c.375G>A (p.Leu125=) c.117G>A (p.Leu39=) c.654G>A (p.Leu218=) c.133G>A n.129+16285G>A c.192G>A (p.Leu64=) | ClinVar |
| 15 | g.89264011G>C | CA492065473 | FANCI | c.375G>C (p.Leu125=) c.117G>C (p.Leu39=) c.654G>C (p.Leu218=) c.133G>C n.129+16285G>C c.192G>C (p.Leu64=) | |
| 15 | g.89264011G>T | CA492065475 | FANCI | c.375G>T (p.Leu125=) c.117G>T (p.Leu39=) c.654G>T (p.Leu218=) c.133G>T n.129+16285G>T c.192G>T (p.Leu64=) |