UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89805285_89812400del | CA916081864 | FANCA | c.284-1328_705del n.119-1328_540del n.327-1328_748del c.315-1328_736del c.284-1328_*49del c.119-1298_570del c.141-1328_562del c.119-1328_540del c.284-1328_609del c.197-1328_618del n.866-1328_1287del c.-869-1328_-448del | ClinVar |
| 16 | g.89805989_89815112del | CA1139664979 | FANCA | c.190-494_597-592del n.25-494_432-592del n.233-494_640-592del c.25-494_628-592del c.190-494_523-592del c.25-494_462-592del c.25-472_454-592del c.25-494_432-592del c.190-494_501-592del c.103-494_510-592del n.772-494_1179-592del c.-963-494_-556-592del | ClinVar |
| 16 | g.89807755_89816658del | CA1139664980 | FANCA | c.-41_596+541del n.3_639+541del c.-41_523-2361del c.-41_500+541del | ClinVar |
| 16 | g.89809030_89816657del | CA1139664981 | FANCA | c.-42_523-663del n.2_566-663del c.-42_522+1677del c.-42_427-663del | ClinVar |
| 16 | g.89809185_89816657del | CA1139664982 | FANCA | c.-41_523-817del n.3_566-817del c.-41_522+1523del c.-41_427-817del | ClinVar |
| 16 | g.89809195_89816657del | CA1139664983 | FANCA | c.-42_523-828del n.2_566-828del c.-42_522+1512del c.-42_427-828del | ClinVar |
| 16 | g.89810705_89811070delinsACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTGCCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAG | CA2241938791 | FANCA | c.285_522+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.120_357+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.328_565+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.316_553+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.150_387+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.142_379+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.120_357+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.285_426+224delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.284-13_*163+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.198_435+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.867_1104+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.278_517delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.-868_-631+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT | |
| 16 | g.89810709_89811073del | CA1139664984 | FANCA | c.285_522+1del n.120_357+1del n.328_565+1del c.316_553+1del c.150_387+1del c.142_379+1del c.120_357+1del c.285_426+223del c.284-13_*163+1del c.198_435+1del n.867_1104+1del n.278_516del c.-868_-631+1del | ClinVar dbSNP |
| 16 | g.89810967C>A | CA397480929 | FANCA | c.388G>T (p.Glu130Ter) n.223G>T n.431G>T c.419G>T (n.419G>T) c.253G>T (n.253G>T) c.245G>T (n.245G>T) c.223G>T (p.Glu75Ter) c.*29G>T (n.*29G>T) c.301G>T (p.Glu101Ter) n.970G>T n.381G>T c.-765G>T (n.-765G>T) | |
| 16 | g.89810967C= | CA2241938976 | FANCA | c.388G= (p.Glu130=) n.223G= n.431G= c.419G= (n.419G=) c.253G= (n.253G=) c.245G= (n.245G=) c.223G= (p.Glu75=) c.*29G= (n.*29G=) c.301G= (p.Glu101=) n.970G= n.381G= c.-765G= (n.-765G=) | |
| 16 | g.89810967C>G | CA397480928 | FANCA | c.388G>C (p.Glu130Gln) n.223G>C n.431G>C c.419G>C (n.419G>C) c.253G>C (n.253G>C) c.245G>C (n.245G>C) c.223G>C (p.Glu75Gln) c.*29G>C (n.*29G>C) c.301G>C (p.Glu101Gln) n.970G>C n.381G>C c.-765G>C (n.-765G>C) | |
| 16 | g.89810967C>T | CA397480927 | FANCA | c.388G>A (p.Glu130Lys) n.223G>A n.431G>A c.419G>A (n.419G>A) c.253G>A (n.253G>A) c.245G>A (n.245G>A) c.223G>A (p.Glu75Lys) c.*29G>A (n.*29G>A) c.301G>A (p.Glu101Lys) n.970G>A n.381G>A c.-765G>A (n.-765G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810968C>A | CA497379355 | FANCA | c.387G>T (p.Ala129=) n.222G>T n.430G>T c.418G>T (n.418G>T) c.252G>T (n.252G>T) c.244G>T (n.244G>T) c.222G>T (p.Ala74=) c.*28G>T (n.*28G>T) c.300G>T (p.Ala100=) n.969G>T n.380G>T c.-766G>T (n.-766G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810968C= | CA2241938977 | FANCA | c.387G= (p.Ala129=) n.222G= n.430G= c.418G= (n.418G=) c.252G= (n.252G=) c.244G= (n.244G=) c.222G= (p.Ala74=) c.*28G= (n.*28G=) c.300G= (p.Ala100=) n.969G= n.380G= c.-766G= (n.-766G=) | |
| 16 | g.89810968C>G | CA497379356 | FANCA | c.387G>C (p.Ala129=) n.222G>C n.430G>C c.418G>C (n.418G>C) c.252G>C (n.252G>C) c.244G>C (n.244G>C) c.222G>C (p.Ala74=) c.*28G>C (n.*28G>C) c.300G>C (p.Ala100=) n.969G>C n.380G>C c.-766G>C (n.-766G>C) | |
| 16 | g.89810968C>T | CA497379357 | FANCA | c.387G>A (p.Ala129=) n.222G>A n.430G>A c.418G>A (n.418G>A) c.252G>A (n.252G>A) c.244G>A (n.244G>A) c.222G>A (p.Ala74=) c.*28G>A (n.*28G>A) c.300G>A (p.Ala100=) n.969G>A n.380G>A c.-766G>A (n.-766G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810969G>A | CA8253042 | FANCA | c.386C>T (p.Ala129Val) n.221C>T n.429C>T c.417C>T (n.417C>T) c.251C>T (n.251C>T) c.243C>T (n.243C>T) c.221C>T (p.Ala74Val) c.*27C>T (n.*27C>T) c.299C>T (p.Ala100Val) n.968C>T n.379C>T c.-767C>T (n.-767C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810969G>C | CA397480930 | FANCA | c.386C>G (p.Ala129Gly) n.221C>G n.429C>G c.417C>G (n.417C>G) c.251C>G (n.251C>G) c.243C>G (n.243C>G) c.221C>G (p.Ala74Gly) c.*27C>G (n.*27C>G) c.299C>G (p.Ala100Gly) n.968C>G n.379C>G c.-767C>G (n.-767C>G) | ClinVar |
| 16 | g.89810969G= | CA2241938978 | FANCA | c.386C= (p.Ala129=) n.221C= n.429C= c.417C= (n.417C=) c.251C= (n.251C=) c.243C= (n.243C=) c.221C= (p.Ala74=) c.*27C= (n.*27C=) c.299C= (p.Ala100=) n.968C= n.379C= c.-767C= (n.-767C=) | |
| 16 | g.89810969G>T | CA397480931 | FANCA | c.386C>A (p.Ala129Glu) n.221C>A n.429C>A c.417C>A (n.417C>A) c.251C>A (n.251C>A) c.243C>A (n.243C>A) c.221C>A (p.Ala74Glu) c.*27C>A (n.*27C>A) c.299C>A (p.Ala100Glu) n.968C>A n.379C>A c.-767C>A (n.-767C>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89810970C>A | CA8253043 | FANCA | c.385G>T (p.Ala129Ser) n.220G>T n.428G>T c.416G>T (n.416G>T) c.250G>T (n.250G>T) c.242G>T (n.242G>T) c.220G>T (p.Ala74Ser) c.*26G>T (n.*26G>T) c.298G>T (p.Ala100Ser) n.967G>T n.378G>T c.-768G>T (n.-768G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810970C= | CA2241938979 | FANCA | c.385G= (p.Ala129=) n.220G= n.428G= c.416G= (n.416G=) c.250G= (n.250G=) c.242G= (n.242G=) c.220G= (p.Ala74=) c.*26G= (n.*26G=) c.298G= (p.Ala100=) n.967G= n.378G= c.-768G= (n.-768G=) | |
| 16 | g.89810970C>G | CA397480932 | FANCA | c.385G>C (p.Ala129Pro) n.220G>C n.428G>C c.416G>C (n.416G>C) c.250G>C (n.250G>C) c.242G>C (n.242G>C) c.220G>C (p.Ala74Pro) c.*26G>C (n.*26G>C) c.298G>C (p.Ala100Pro) n.967G>C n.378G>C c.-768G>C (n.-768G>C) | |
| 16 | g.89810970C>T | CA397480933 | FANCA | c.385G>A (p.Ala129Thr) n.220G>A n.428G>A c.416G>A (n.416G>A) c.250G>A (n.250G>A) c.242G>A (n.242G>A) c.220G>A (p.Ala74Thr) c.*26G>A (n.*26G>A) c.298G>A (p.Ala100Thr) n.967G>A n.378G>A c.-768G>A (n.-768G>A) | ClinVar dbSNP |
| 16 | g.89810971T>A | CA497379358 | FANCA | c.384A>T (p.Pro128=) n.219A>T n.427A>T c.415A>T (n.415A>T) c.249A>T (n.249A>T) c.241A>T (n.241A>T) c.219A>T (p.Pro73=) c.*25A>T (n.*25A>T) c.297A>T (p.Pro99=) n.966A>T n.377A>T c.-769A>T (n.-769A>T) | |
| 16 | g.89810971T>C | CA497379359 | FANCA | c.384A>G (p.Pro128=) n.219A>G n.427A>G c.415A>G (n.415A>G) c.249A>G (n.249A>G) c.241A>G (n.241A>G) c.219A>G (p.Pro73=) c.*25A>G (n.*25A>G) c.297A>G (p.Pro99=) n.966A>G n.377A>G c.-769A>G (n.-769A>G) | |
| 16 | g.89810971T>G | CA497379360 | FANCA | c.384A>C (p.Pro128=) n.219A>C n.427A>C c.415A>C (n.415A>C) c.249A>C (n.249A>C) c.241A>C (n.241A>C) c.219A>C (p.Pro73=) c.*25A>C (n.*25A>C) c.297A>C (p.Pro99=) n.966A>C n.377A>C c.-769A>C (n.-769A>C) | |
| 16 | g.89810972G>A | CA397480934 | FANCA | c.383C>T (p.Pro128Leu) n.218C>T n.426C>T c.414C>T (n.414C>T) c.248C>T (n.248C>T) c.240C>T (n.240C>T) c.218C>T (p.Pro73Leu) c.*24C>T (n.*24C>T) c.296C>T (p.Pro99Leu) n.965C>T n.376C>T c.-770C>T (n.-770C>T) | dbSNP |
| 16 | g.89810972G>C | CA397480936 | FANCA | c.383C>G (p.Pro128Arg) n.218C>G n.426C>G c.414C>G (n.414C>G) c.248C>G (n.248C>G) c.240C>G (n.240C>G) c.218C>G (p.Pro73Arg) c.*24C>G (n.*24C>G) c.296C>G (p.Pro99Arg) n.965C>G n.376C>G c.-770C>G (n.-770C>G) | |
| 16 | g.89810972G>T | CA397480935 | FANCA | c.383C>A (p.Pro128Gln) n.218C>A n.426C>A c.414C>A (n.414C>A) c.248C>A (n.248C>A) c.240C>A (n.240C>A) c.218C>A (p.Pro73Gln) c.*24C>A (n.*24C>A) c.296C>A (p.Pro99Gln) n.965C>A n.376C>A c.-770C>A (n.-770C>A) | |
| 16 | g.89810973G>A | CA8253044 | FANCA | c.382C>T (p.Pro128Ser) n.217C>T n.425C>T c.413C>T (n.413C>T) c.247C>T (n.247C>T) c.239C>T (n.239C>T) c.217C>T (p.Pro73Ser) c.*23C>T (n.*23C>T) c.295C>T (p.Pro99Ser) n.964C>T n.375C>T c.-771C>T (n.-771C>T) | dbSNP ExAC gnomAD v2 COSMIC |
| 16 | g.89810973G>C | CA397480937 | FANCA | c.382C>G (p.Pro128Ala) n.217C>G n.425C>G c.413C>G (n.413C>G) c.247C>G (n.247C>G) c.239C>G (n.239C>G) c.217C>G (p.Pro73Ala) c.*23C>G (n.*23C>G) c.295C>G (p.Pro99Ala) n.964C>G n.375C>G c.-771C>G (n.-771C>G) | |
| 16 | g.89810973G= | CA2241938980 | FANCA | c.382C= (p.Pro128=) n.217C= n.425C= c.413C= (n.413C=) c.247C= (n.247C=) c.239C= (n.239C=) c.217C= (p.Pro73=) c.*23C= (n.*23C=) c.295C= (p.Pro99=) n.964C= n.375C= c.-771C= (n.-771C=) | |
| 16 | g.89810973G>T | CA397480938 | FANCA | c.382C>A (p.Pro128Thr) n.217C>A n.425C>A c.413C>A (n.413C>A) c.247C>A (n.247C>A) c.239C>A (n.239C>A) c.217C>A (p.Pro73Thr) c.*23C>A (n.*23C>A) c.295C>A (p.Pro99Thr) n.964C>A n.375C>A c.-771C>A (n.-771C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810974A= | CA2241938981 | FANCA | c.381T= (p.Ala127=) n.216T= n.424T= c.412T= (n.412T=) c.246T= (n.246T=) c.238T= (n.238T=) c.216T= (p.Ala72=) c.*22T= (n.*22T=) c.294T= (p.Ala98=) n.963T= n.374T= c.-772T= (n.-772T=) | |
| 16 | g.89810974A>C | CA497379363 | FANCA | c.381T>G (p.Ala127=) n.216T>G n.424T>G c.412T>G (n.412T>G) c.246T>G (n.246T>G) c.238T>G (n.238T>G) c.216T>G (p.Ala72=) c.*22T>G (n.*22T>G) c.294T>G (p.Ala98=) n.963T>G n.374T>G c.-772T>G (n.-772T>G) | |
| 16 | g.89810974A>G | CA8253045 | FANCA | c.381T>C (p.Ala127=) n.216T>C n.424T>C c.412T>C (n.412T>C) c.246T>C (n.246T>C) c.238T>C (n.238T>C) c.216T>C (p.Ala72=) c.*22T>C (n.*22T>C) c.294T>C (p.Ala98=) n.963T>C n.374T>C c.-772T>C (n.-772T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89810974A>T | CA497379364 | FANCA | c.381T>A (p.Ala127=) n.216T>A n.424T>A c.412T>A (n.412T>A) c.246T>A (n.246T>A) c.238T>A (n.238T>A) c.216T>A (p.Ala72=) c.*22T>A (n.*22T>A) c.294T>A (p.Ala98=) n.963T>A n.374T>A c.-772T>A (n.-772T>A) | |
| 16 | g.89810975G>A | CA397480939 | FANCA | c.380C>T (p.Ala127Val) n.215C>T n.423C>T c.411C>T (n.411C>T) c.245C>T (n.245C>T) c.237C>T (n.237C>T) c.215C>T (p.Ala72Val) c.*21C>T (n.*21C>T) c.293C>T (p.Ala98Val) n.962C>T n.373C>T c.-773C>T (n.-773C>T) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89810975G>C | CA397480940 | FANCA | c.380C>G (p.Ala127Gly) n.215C>G n.423C>G c.411C>G (n.411C>G) c.245C>G (n.245C>G) c.237C>G (n.237C>G) c.215C>G (p.Ala72Gly) c.*21C>G (n.*21C>G) c.293C>G (p.Ala98Gly) n.962C>G n.373C>G c.-773C>G (n.-773C>G) | |
| 16 | g.89810975G>T | CA397480941 | FANCA | c.380C>A (p.Ala127Asp) n.215C>A n.423C>A c.411C>A (n.411C>A) c.245C>A (n.245C>A) c.237C>A (n.237C>A) c.215C>A (p.Ala72Asp) c.*21C>A (n.*21C>A) c.293C>A (p.Ala98Asp) n.962C>A n.373C>A c.-773C>A (n.-773C>A) | |
| 16 | g.89810976C>A | CA397480942 | FANCA | c.379G>T (p.Ala127Ser) n.214G>T n.422G>T c.410G>T (n.410G>T) c.244G>T (n.244G>T) c.236G>T (n.236G>T) c.214G>T (p.Ala72Ser) c.*20G>T (n.*20G>T) c.292G>T (p.Ala98Ser) n.961G>T n.372G>T c.-774G>T (n.-774G>T) | |
| 16 | g.89810976C>G | CA397480943 | FANCA | c.379G>C (p.Ala127Pro) n.214G>C n.422G>C c.410G>C (n.410G>C) c.244G>C (n.244G>C) c.236G>C (n.236G>C) c.214G>C (p.Ala72Pro) c.*20G>C (n.*20G>C) c.292G>C (p.Ala98Pro) n.961G>C n.372G>C c.-774G>C (n.-774G>C) | |
| 16 | g.89810976C>T | CA397480944 | FANCA | c.379G>A (p.Ala127Thr) n.214G>A n.422G>A c.410G>A (n.410G>A) c.244G>A (n.244G>A) c.236G>A (n.236G>A) c.214G>A (p.Ala72Thr) c.*20G>A (n.*20G>A) c.292G>A (p.Ala98Thr) n.961G>A n.372G>A c.-774G>A (n.-774G>A) | dbSNP gnomAD v4 |
| 16 | g.89810977C>A | CA497379367 | FANCA | c.378G>T (p.Thr126=) n.213G>T n.421G>T c.409G>T (n.409G>T) c.243G>T (n.243G>T) c.235G>T (n.235G>T) c.213G>T (p.Thr71=) c.*19G>T (n.*19G>T) c.291G>T (p.Thr97=) n.960G>T n.371G>T c.-775G>T (n.-775G>T) | |
| 16 | g.89810977C= | CA2241938982 | FANCA | c.378G= (p.Thr126=) n.213G= n.421G= c.409G= (n.409G=) c.243G= (n.243G=) c.235G= (n.235G=) c.213G= (p.Thr71=) c.*19G= (n.*19G=) c.291G= (p.Thr97=) n.960G= n.371G= c.-775G= (n.-775G=) | |
| 16 | g.89810977C>G | CA497379368 | FANCA | c.378G>C (p.Thr126=) n.213G>C n.421G>C c.409G>C (n.409G>C) c.243G>C (n.243G>C) c.235G>C (n.235G>C) c.213G>C (p.Thr71=) c.*19G>C (n.*19G>C) c.291G>C (p.Thr97=) n.960G>C n.371G>C c.-775G>C (n.-775G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810977C>T | CA8253046 | FANCA | c.378G>A (p.Thr126=) n.213G>A n.421G>A c.409G>A (n.409G>A) c.243G>A (n.243G>A) c.235G>A (n.235G>A) c.213G>A (p.Thr71=) c.*19G>A (n.*19G>A) c.291G>A (p.Thr97=) n.960G>A n.371G>A c.-775G>A (n.-775G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810978G>A | CA8253048 | FANCA | c.377C>T (p.Thr126Met) n.212C>T n.420C>T c.408C>T (n.408C>T) c.242C>T (n.242C>T) c.234C>T (n.234C>T) c.212C>T (p.Thr71Met) c.*18C>T (n.*18C>T) c.290C>T (p.Thr97Met) n.959C>T n.370C>T c.-776C>T (n.-776C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810978G>C | CA8253047 | FANCA | c.377C>G (p.Thr126Arg) n.212C>G n.420C>G c.408C>G (n.408C>G) c.242C>G (n.242C>G) c.234C>G (n.234C>G) c.212C>G (p.Thr71Arg) c.*18C>G (n.*18C>G) c.290C>G (p.Thr97Arg) n.959C>G n.370C>G c.-776C>G (n.-776C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |