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 |
|---|---|---|---|---|---|
| 19 | g.48966322G>A | CA406756750 | FTL | c.291G>A (p.Met97Ile) c.801G>A (p.Met267Ile) | dbSNP gnomAD v4 |
| 19 | g.48966322G>C | CA406756751 | FTL | c.291G>C (p.Met97Ile) c.801G>C (p.Met267Ile) | |
| 19 | g.48966322G= | CA2340161739 | FTL | c.291G= (p.Met97=) c.801G= (p.Met267=) | |
| 19 | g.48966322G>T | CA406756752 | FTL | c.291G>T (p.Met97Ile) c.801G>T (p.Met267Ile) | |
| 19 | g.48966323A= | CA2340161740 | FTL | c.292A= (p.Lys98=) c.802A= (p.Lys268=) | |
| 19 | g.48966323A>C | CA406756757 | FTL | c.292A>C (p.Lys98Gln) c.802A>C (p.Lys268Gln) | |
| 19 | g.48966323A>G | CA406756756 | FTL | c.292A>G (p.Lys98Glu) c.802A>G (p.Lys268Glu) | dbSNP |
| 19 | g.48966323A>T | CA406756754 | FTL | c.292A>T (p.Lys98Ter) c.802A>T (p.Lys268Ter) | |
| 19 | g.48966324A= | CA2340161741 | FTL | c.293A= (p.Lys98=) c.803A= (p.Lys268=) | |
| 19 | g.48966324A>C | CA406756758 | FTL | c.293A>C (p.Lys98Thr) c.803A>C (p.Lys268Thr) | |
| 19 | g.48966324A>G | CA406756760 | FTL | c.293A>G (p.Lys98Arg) c.803A>G (p.Lys268Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966324A>T | CA406756762 | FTL | c.293A>T (p.Lys98Ile) c.803A>T (p.Lys268Ile) | gnomAD v4 |
| 19 | g.48966325A>C | CA406756763 | FTL | c.294A>C (p.Lys98Asn) c.804A>C (p.Lys268Asn) | |
| 19 | g.48966325A>G | CA508078024 | FTL | c.294A>G (p.Lys98=) c.804A>G (p.Lys268=) | |
| 19 | g.48966325A>T | CA406756764 | FTL | c.294A>T (p.Lys98Asn) c.804A>T (p.Lys268Asn) | |
| 19 | g.48966326G>A | CA406756766 | FTL | c.295G>A (p.Ala99Thr) c.805G>A (p.Ala269Thr) | |
| 19 | g.48966326G>C | CA406756768 | FTL | c.295G>C (p.Ala99Pro) c.805G>C (p.Ala269Pro) | |
| 19 | g.48966326G>T | CA406756769 | FTL | c.295G>T (p.Ala99Ser) c.805G>T (p.Ala269Ser) | |
| 19 | g.48966327C>A | CA406756770 | FTL | c.296C>A (p.Ala99Asp) c.806C>A (p.Ala269Asp) | |
| 19 | g.48966327C= | CA2340161742 | FTL | c.296C= (p.Ala99=) c.806C= (p.Ala269=) | |
| 19 | g.48966327C>G | CA406756772 | FTL | c.296C>G (p.Ala99Gly) c.806C>G (p.Ala269Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966327C>T | CA406756774 | FTL | c.296C>T (p.Ala99Val) c.806C>T (p.Ala269Val) | |
| 19 | g.48966328T>A | CA508078026 | FTL | c.297T>A (p.Ala99=) c.807T>A (p.Ala269=) | |
| 19 | g.48966328T>C | CA508078030 | FTL | c.297T>C (p.Ala99=) c.807T>C (p.Ala269=) | |
| 19 | g.48966328T>G | CA309376494 | FTL | c.297T>G (p.Ala99=) c.807T>G (p.Ala269=) | dbSNP |
| 19 | g.48966328T= | CA2340161743 | FTL | c.297T= (p.Ala99=) c.807T= (p.Ala269=) | |
| 19 | g.48966329G>A | CA406756780 | FTL | c.298G>A (p.Ala100Thr) c.808G>A (p.Ala270Thr) | |
| 19 | g.48966329G>C | CA406756778 | FTL | c.298G>C (p.Ala100Pro) c.808G>C (p.Ala270Pro) | |
| 19 | g.48966329G>T | CA406756776 | FTL | c.298G>T (p.Ala100Ser) c.808G>T (p.Ala270Ser) | |
| 19 | g.48966330C>A | CA406756783 | FTL | c.299C>A (p.Ala100Asp) c.809C>A (p.Ala270Asp) | |
| 19 | g.48966330C= | CA2340161744 | FTL | c.299C= (p.Ala100=) c.809C= (p.Ala270=) | |
| 19 | g.48966330C>G | CA406756781 | FTL | c.299C>G (p.Ala100Gly) c.809C>G (p.Ala270Gly) | |
| 19 | g.48966330C>T | CA406756782 | FTL | c.299C>T (p.Ala100Val) c.809C>T (p.Ala270Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966331C>A | CA508078033 | FTL | c.300C>A (p.Ala100=) c.810C>A (p.Ala270=) | gnomAD v4 |
| 19 | g.48966331C>G | CA508078032 | FTL | c.300C>G (p.Ala100=) c.810C>G (p.Ala270=) | |
| 19 | g.48966331C>T | CA508078031 | FTL | c.300C>T (p.Ala100=) c.810C>T (p.Ala270=) | |
| 19 | g.48966332A= | CA2340161745 | FTL | c.301A= (p.Met101=) c.811A= (p.Met271=) | |
| 19 | g.48966332A>C | CA406756786 | FTL | c.301A>C (p.Met101Leu) c.811A>C (p.Met271Leu) | |
| 19 | g.48966332A>G | CA406756788 | FTL | c.301A>G (p.Met101Val) c.811A>G (p.Met271Val) | |
| 19 | g.48966332A>T | CA406756789 | FTL | c.301A>T (p.Met101Leu) c.811A>T (p.Met271Leu) | dbSNP |
| 19 | g.48966333T>A | CA406756794 | FTL | c.302T>A (p.Met101Lys) c.812T>A (p.Met271Lys) | |
| 19 | g.48966333T>C | CA9562535 | FTL | c.302T>C (p.Met101Thr) c.812T>C (p.Met271Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48966333T>G | CA406756791 | FTL | c.302T>G (p.Met101Arg) c.812T>G (p.Met271Arg) | |
| 19 | g.48966333T= | CA2340161746 | FTL | c.302T= (p.Met101=) c.812T= (p.Met271=) | |
| 19 | g.48966334G>A | CA406756795 | FTL | c.303G>A (p.Met101Ile) c.813G>A (p.Met271Ile) | |
| 19 | g.48966334G>C | CA406756796 | FTL | c.303G>C (p.Met101Ile) c.813G>C (p.Met271Ile) | |
| 19 | g.48966334G>T | CA406756798 | FTL | c.303G>T (p.Met101Ile) c.813G>T (p.Met271Ile) | |
| 19 | g.48966335G>A | CA406756800 | FTL | c.304G>A (p.Ala102Thr) c.814G>A (p.Ala272Thr) | |
| 19 | g.48966335G>C | CA406756802 | FTL | c.304G>C (p.Ala102Pro) c.814G>C (p.Ala272Pro) | |
| 19 | g.48966335G>T | CA406756803 | FTL | c.304G>T (p.Ala102Ser) c.814G>T (p.Ala272Ser) | |
| 19 | g.48966336C>A | CA406756805 | FTL | c.305C>A (p.Ala102Asp) c.815C>A (p.Ala272Asp) | |
| 19 | g.48966336C>G | CA406756809 | FTL | c.305C>G (p.Ala102Gly) c.815C>G (p.Ala272Gly) | |
| 19 | g.48966336C>T | CA406756807 | FTL | c.305C>T (p.Ala102Val) c.815C>T (p.Ala272Val) | gnomAD v4 |
| 19 | g.48966337C>A | CA508078036 | FTL | c.306C>A (p.Ala102=) c.816C>A (p.Ala272=) | gnomAD v4 |
| 19 | g.48966337C= | CA2340161747 | FTL | c.306C= (p.Ala102=) c.816C= (p.Ala272=) | |
| 19 | g.48966337C>G | CA508078037 | FTL | c.306C>G (p.Ala102=) c.816C>G (p.Ala272=) | |
| 19 | g.48966337C>T | CA508078039 | FTL | c.306C>T (p.Ala102=) c.816C>T (p.Ala272=) | dbSNP |
| 19 | g.48966338C>A | CA406756810 | FTL | c.307C>A (p.Leu103Met) c.817C>A (p.Leu273Met) | dbSNP |
| 19 | g.48966338C= | CA2340161748 | FTL | c.307C= (p.Leu103=) c.817C= (p.Leu273=) | |
| 19 | g.48966338C>G | CA406756812 | FTL | c.307C>G (p.Leu103Val) c.817C>G (p.Leu273Val) | gnomAD v4 |
| 19 | g.48966338C>T | CA508078040 | FTL | c.307C>T (p.Leu103=) c.817C>T (p.Leu273=) | |
| 19 | g.48966339T>A | CA406756814 | FTL | c.308T>A (p.Leu103Gln) c.818T>A (p.Leu273Gln) | |
| 19 | g.48966339T>C | CA406756815 | FTL | c.308T>C (p.Leu103Pro) c.818T>C (p.Leu273Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966339T>G | CA406756817 | FTL | c.308T>G (p.Leu103Arg) c.818T>G (p.Leu273Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48966339T= | CA2340161749 | FTL | c.308T= (p.Leu103=) c.818T= (p.Leu273=) | |
| 19 | g.48966340G>A | CA508078041 | FTL | c.309G>A (p.Leu103=) c.819G>A (p.Leu273=) | |
| 19 | g.48966340G>C | CA508078042 | FTL | c.309G>C (p.Leu103=) c.819G>C (p.Leu273=) | |
| 19 | g.48966340G>T | CA508078044 | FTL | c.309G>T (p.Leu103=) c.819G>T (p.Leu273=) | |
| 19 | g.48966341G>A | CA406756819 | FTL | c.310G>A (p.Glu104Lys) c.820G>A (p.Glu274Lys) | gnomAD v4 |
| 19 | g.48966341G>C | CA309376503 | FTL | c.310G>C (p.Glu104Gln) c.820G>C (p.Glu274Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966341G= | CA2340161750 | FTL | c.310G= (p.Glu104=) c.820G= (p.Glu274=) | |
| 19 | g.48966341G>T | CA149683 | FTL | c.310G>T (p.Glu104Ter) c.820G>T (p.Glu274Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48966342A= | CA2340161751 | FTL | c.311A= (p.Glu104=) c.821A= (p.Glu274=) | |
| 19 | g.48966342A>C | CA406756822 | FTL | c.311A>C (p.Glu104Ala) c.821A>C (p.Glu274Ala) | |
| 19 | g.48966342A>G | CA406756824 | FTL | c.311A>G (p.Glu104Gly) c.821A>G (p.Glu274Gly) | ClinVar dbSNP |
| 19 | g.48966342A>T | CA406756825 | FTL | c.311A>T (p.Glu104Val) c.821A>T (p.Glu274Val) | |
| 19 | g.48966343G>A | CA9562536 | FTL | c.312G>A (p.Glu104=) c.822G>A (p.Glu274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966343G>C | CA406756829 | FTL | c.312G>C (p.Glu104Asp) c.822G>C (p.Glu274Asp) | |
| 19 | g.48966343G= | CA2340161753 | FTL | c.312G= (p.Glu104=) c.822G= (p.Glu274=) | |
| 19 | g.48966343G>T | CA406756827 | FTL | c.312G>T (p.Glu104Asp) c.822G>T (p.Glu274Asp) | COSMIC |
| 19 | g.48966343dup | CA2340161752 | FTL | c.312dup (p.Lys105GlufsTer24) c.822dup (p.Lys275GlufsTer24) | dbSNP |
| 19 | g.48966344A>C | CA406756831 | FTL | c.313A>C (p.Lys105Gln) c.823A>C (p.Lys275Gln) | |
| 19 | g.48966344A>G | CA406756833 | FTL | c.313A>G (p.Lys105Glu) c.823A>G (p.Lys275Glu) | |
| 19 | g.48966344A>T | CA406756832 | FTL | c.313A>T (p.Lys105Ter) c.823A>T (p.Lys275Ter) | |
| 19 | g.48966345A= | CA2340161754 | FTL | c.314A= (p.Lys105=) c.824A= (p.Lys275=) | |
| 19 | g.48966345A>C | CA406756835 | FTL | c.314A>C (p.Lys105Thr) c.824A>C (p.Lys275Thr) | dbSNP gnomAD v2 |
| 19 | g.48966345A>G | CA406756837 | FTL | c.314A>G (p.Lys105Arg) c.824A>G (p.Lys275Arg) | |
| 19 | g.48966345A>T | CA406756839 | FTL | c.314A>T (p.Lys105Ile) c.824A>T (p.Lys275Ile) | |
| 19 | g.48966346A= | CA2340161755 | FTL | c.315A= (p.Lys105=) c.825A= (p.Lys275=) | |
| 19 | g.48966346A>C | CA406756840 | FTL | c.315A>C (p.Lys105Asn) c.825A>C (p.Lys275Asn) | |
| 19 | g.48966346A>G | CA309376513 | FTL | c.315A>G (p.Lys105=) c.825A>G (p.Lys275=) | dbSNP gnomAD v4 |
| 19 | g.48966346A>T | CA406756843 | FTL | c.315A>T (p.Lys105Asn) c.825A>T (p.Lys275Asn) | |
| 19 | g.48966347A>C | CA406756845 | FTL | c.316A>C (p.Lys106Gln) c.826A>C (p.Lys276Gln) | |
| 19 | g.48966347A>G | CA406756846 | FTL | c.316A>G (p.Lys106Glu) c.826A>G (p.Lys276Glu) | |
| 19 | g.48966347A>T | CA406756848 | FTL | c.316A>T (p.Lys106Ter) c.826A>T (p.Lys276Ter) | |
| 19 | g.48966348A>C | CA406756849 | FTL | c.317A>C (p.Lys106Thr) c.827A>C (p.Lys276Thr) | |
| 19 | g.48966348A>G | CA406756851 | FTL | c.317A>G (p.Lys106Arg) c.827A>G (p.Lys276Arg) | |
| 19 | g.48966348A>T | CA406756853 | FTL | c.317A>T (p.Lys106Met) c.827A>T (p.Lys276Met) | |
| 19 | g.48966349G>A | CA508078052 | FTL | c.318G>A (p.Lys106=) c.828G>A (p.Lys276=) | |
| 19 | g.48966349G>C | CA406756854 | FTL | c.318G>C (p.Lys106Asn) c.828G>C (p.Lys276Asn) | dbSNP |
| 19 | g.48966349G= | CA2340161756 | FTL | c.318G= (p.Lys106=) c.828G= (p.Lys276=) | |
| 19 | g.48966349G>T | CA406756855 | FTL | c.318G>T (p.Lys106Asn) c.828G>T (p.Lys276Asn) | |
| 19 | g.48966350C>A | CA406756857 | FTL | c.319C>A (p.Leu107Met) c.829C>A (p.Leu277Met) | |
| 19 | g.48966350C= | CA2340161757 | FTL | c.319C= (p.Leu107=) c.829C= (p.Leu277=) | |
| 19 | g.48966350C>G | CA406756859 | FTL | c.319C>G (p.Leu107Val) c.829C>G (p.Leu277Val) | |
| 19 | g.48966350C>T | CA9562537 | FTL | c.319C>T (p.Leu107=) c.829C>T (p.Leu277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966351T>A | CA406756861 | FTL | c.320T>A (p.Leu107Gln) c.830T>A (p.Leu277Gln) | |
| 19 | g.48966351T>C | CA406756862 | FTL | c.320T>C (p.Leu107Pro) c.830T>C (p.Leu277Pro) | |
| 19 | g.48966351T>G | CA406756863 | FTL | c.320T>G (p.Leu107Arg) c.830T>G (p.Leu277Arg) | ClinVar |
| 19 | g.48966352G>A | CA508078056 | FTL | c.321G>A (p.Leu107=) c.831G>A (p.Leu277=) | |
| 19 | g.48966352G>C | CA508078057 | FTL | c.321G>C (p.Leu107=) c.831G>C (p.Leu277=) | |
| 19 | g.48966352G= | CA2340161758 | FTL | c.321G= (p.Leu107=) c.831G= (p.Leu277=) | |
| 19 | g.48966352G>T | CA309376529 | FTL | c.321G>T (p.Leu107=) c.831G>T (p.Leu277=) | dbSNP COSMIC |
| 19 | g.48966353A>C | CA406756865 | FTL | c.322A>C (p.Asn108His) c.832A>C (p.Asn278His) | |
| 19 | g.48966353A>G | CA406756867 | FTL | c.322A>G (p.Asn108Asp) c.832A>G (p.Asn278Asp) | |
| 19 | g.48966353A>T | CA406756869 | FTL | c.322A>T (p.Asn108Tyr) c.832A>T (p.Asn278Tyr) | |
| 19 | g.48966354A>C | CA406756872 | FTL | c.323A>C (p.Asn108Thr) c.833A>C (p.Asn278Thr) | |
| 19 | g.48966354A>G | CA406756874 | FTL | c.323A>G (p.Asn108Ser) c.833A>G (p.Asn278Ser) | |
| 19 | g.48966354A>T | CA406756870 | FTL | c.323A>T (p.Asn108Ile) c.833A>T (p.Asn278Ile) | |
| 19 | g.48966355C>A | CA406756876 | FTL | c.324C>A (p.Asn108Lys) c.834C>A (p.Asn278Lys) | |
| 19 | g.48966355C= | CA2340161759 | FTL | c.324C= (p.Asn108=) c.834C= (p.Asn278=) | |
| 19 | g.48966355C>G | CA406756877 | FTL | c.324C>G (p.Asn108Lys) c.834C>G (p.Asn278Lys) | |
| 19 | g.48966355C>T | CA9562538 | FTL | c.324C>T (p.Asn108=) c.834C>T (p.Asn278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48966356C>A | CA406756880 | FTL | c.325C>A (p.Gln109Lys) c.835C>A (p.Gln279Lys) | |
| 19 | g.48966356C= | CA2340161761 | FTL | c.325C= (p.Gln109=) c.835C= (p.Gln279=) | |
| 19 | g.48966356C>G | CA406756882 | FTL | c.325C>G (p.Gln109Glu) c.835C>G (p.Gln279Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48966356C>T | CA406756883 | FTL | c.325C>T (p.Gln109Ter) c.835C>T (p.Gln279Ter) | |
| 19 | g.48966356_48966359delinsCAGG | CA2340161760 | FTL | c.325_328delinsCAGG (p.Gln109=) c.835_838delinsCAGG (p.Gln279=) | |
| 19 | g.48966357A>C | CA406756885 | FTL | c.326A>C (p.Gln109Pro) c.836A>C (p.Gln279Pro) | |
| 19 | g.48966357A>G | CA406756887 | FTL | c.326A>G (p.Gln109Arg) c.836A>G (p.Gln279Arg) | |
| 19 | g.48966357A>T | CA406756889 | FTL | c.326A>T (p.Gln109Leu) c.836A>T (p.Gln279Leu) | |
| 19 | g.48966357_48966359del | CA883053230 | FTL | c.326_328del (p.Gln109_Ala110delinsPro) c.836_838del (p.Gln279_Ala280delinsPro) | dbSNP |
| 19 | g.48966358G>A | CA508078062 | FTL | c.327G>A (p.Gln109=) c.837G>A (p.Gln279=) | |
| 19 | g.48966358G>C | CA406756890 | FTL | c.327G>C (p.Gln109His) c.837G>C (p.Gln279His) | |
| 19 | g.48966358G>T | CA406756892 | FTL | c.327G>T (p.Gln109His) c.837G>T (p.Gln279His) | |
| 19 | g.48966359G>A | CA406756896 | FTL | c.328G>A (p.Ala110Thr) c.838G>A (p.Ala280Thr) | |
| 19 | g.48966359G>C | CA406756898 | FTL | c.328G>C (p.Ala110Pro) c.838G>C (p.Ala280Pro) | |
| 19 | g.48966359G>T | CA406756894 | FTL | c.328G>T (p.Ala110Ser) c.838G>T (p.Ala280Ser) | |
| 19 | g.48966360C>A | CA406756899 | FTL | c.329C>A (p.Ala110Asp) c.839C>A (p.Ala280Asp) | |
| 19 | g.48966360C>G | CA309376531 | FTL | c.329C>G (p.Ala110Gly) c.839C>G (p.Ala280Gly) | |
| 19 | g.48966360C>T | CA406756900 | FTL | c.329C>T (p.Ala110Val) c.839C>T (p.Ala280Val) | |
| 19 | g.48966361C>A | CA508078066 | FTL | c.330C>A (p.Ala110=) c.840C>A (p.Ala280=) | |
| 19 | g.48966361C>G | CA508078067 | FTL | c.330C>G (p.Ala110=) c.840C>G (p.Ala280=) | |
| 19 | g.48966361C>T | CA508078068 | FTL | c.330C>T (p.Ala110=) c.840C>T (p.Ala280=) | gnomAD v4 |
| 19 | g.48966362C>A | CA406756901 | FTL | c.331C>A (p.Leu111Ile) c.841C>A (p.Leu281Ile) | |
| 19 | g.48966362C= | CA2340161762 | FTL | c.331C= (p.Leu111=) c.841C= (p.Leu281=) | |
| 19 | g.48966362C>G | CA406756903 | FTL | c.331C>G (p.Leu111Val) c.841C>G (p.Leu281Val) | |
| 19 | g.48966362C>T | CA309376535 | FTL | c.331C>T (p.Leu111Phe) c.841C>T (p.Leu281Phe) | dbSNP gnomAD v4 |
| 19 | g.48966363T>A | CA9562539 | FTL | c.332T>A (p.Leu111His) c.842T>A (p.Leu281His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966363T>C | CA309376544 | FTL | c.332T>C (p.Leu111Pro) c.842T>C (p.Leu281Pro) | dbSNP |
| 19 | g.48966363T>G | CA406756904 | FTL | c.332T>G (p.Leu111Arg) c.842T>G (p.Leu281Arg) | dbSNP |
| 19 | g.48966363T= | CA2340161763 | FTL | c.332T= (p.Leu111=) c.842T= (p.Leu281=) | |
| 19 | g.48966364T>A | CA508078075 | FTL | c.333T>A (p.Leu111=) c.843T>A (p.Leu281=) | |
| 19 | g.48966364T>C | CA508078073 | FTL | c.333T>C (p.Leu111=) c.843T>C (p.Leu281=) | dbSNP |
| 19 | g.48966364T>G | CA508078074 | FTL | c.333T>G (p.Leu111=) c.843T>G (p.Leu281=) | |
| 19 | g.48966364T= | CA2340161764 | FTL | c.333T= (p.Leu111=) c.843T= (p.Leu281=) | |
| 19 | g.48966365T>A | CA406756905 | FTL | c.334T>A (p.Leu112Met) c.844T>A (p.Leu282Met) | |
| 19 | g.48966365T>C | CA508078077 | FTL | c.334T>C (p.Leu112=) c.844T>C (p.Leu282=) | |
| 19 | g.48966365T>G | CA406756907 | FTL | c.334T>G (p.Leu112Val) c.844T>G (p.Leu282Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48966365T= | CA2340161765 | FTL | c.334T= (p.Leu112=) c.844T= (p.Leu282=) | |
| 19 | g.48966366T>A | CA406756909 | FTL | c.335T>A (p.Leu112Ter) c.845T>A (p.Leu282Ter) | |
| 19 | g.48966366T>C | CA406756910 | FTL | c.335T>C (p.Leu112Ser) c.845T>C (p.Leu282Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48966366T>G | CA406756912 | FTL | c.335T>G (p.Leu112Trp) c.845T>G (p.Leu282Trp) | |
| 19 | g.48966366T= | CA2340161766 | FTL | c.335T= (p.Leu112=) c.845T= (p.Leu282=) | |
| 19 | g.48966367G>A | CA508078078 | FTL | c.336G>A (p.Leu112=) c.846G>A (p.Leu282=) | ClinVar dbSNP gnomAD v2 |
| 19 | g.48966367G>C | CA406756916 | FTL | c.336G>C (p.Leu112Phe) c.846G>C (p.Leu282Phe) | |
| 19 | g.48966367G= | CA2340161767 | FTL | c.336G= (p.Leu112=) c.846G= (p.Leu282=) | |
| 19 | g.48966367G>T | CA406756914 | FTL | c.336G>T (p.Leu112Phe) c.846G>T (p.Leu282Phe) | |
| 19 | g.48966368G>A | CA406756917 | FTL | c.337G>A (p.Asp113Asn) c.847G>A (p.Asp283Asn) | |
| 19 | g.48966368G>C | CA406756921 | FTL | c.337G>C (p.Asp113His) c.847G>C (p.Asp283His) | |
| 19 | g.48966368G>T | CA406756919 | FTL | c.337G>T (p.Asp113Tyr) c.847G>T (p.Asp283Tyr) | |
| 19 | g.48966369A>C | CA406756922 | FTL | c.338A>C (p.Asp113Ala) c.848A>C (p.Asp283Ala) | |
| 19 | g.48966369A>G | CA406756926 | FTL | c.338A>G (p.Asp113Gly) c.848A>G (p.Asp283Gly) | |
| 19 | g.48966369A>T | CA406756924 | FTL | c.338A>T (p.Asp113Val) c.848A>T (p.Asp283Val) | |
| 19 | g.48966370T>A | CA406756928 | FTL | c.339T>A (p.Asp113Glu) c.849T>A (p.Asp283Glu) | dbSNP gnomAD v2 |
| 19 | g.48966370T>C | CA508078084 | FTL | c.339T>C (p.Asp113=) c.849T>C (p.Asp283=) | |
| 19 | g.48966370T>G | CA406756929 | FTL | c.339T>G (p.Asp113Glu) c.849T>G (p.Asp283Glu) | |
| 19 | g.48966370T= | CA2340161768 | FTL | c.339T= (p.Asp113=) c.849T= (p.Asp283=) | |
| 19 | g.48966371C>A | CA406756931 | FTL | c.340C>A (p.Leu114Ile) c.850C>A (p.Leu284Ile) | |
| 19 | g.48966371C>G | CA406756932 | FTL | c.340C>G (p.Leu114Val) c.850C>G (p.Leu284Val) | |
| 19 | g.48966371C>T | CA406756934 | FTL | c.340C>T (p.Leu114Phe) c.850C>T (p.Leu284Phe) | |
| 19 | g.48966372T>A | CA406756936 | FTL | c.341T>A (p.Leu114His) c.851T>A (p.Leu284His) | |
| 19 | g.48966372T>C | CA406756937 | FTL | c.341T>C (p.Leu114Pro) c.851T>C (p.Leu284Pro) | |
| 19 | g.48966372T>G | CA406756939 | FTL | c.341T>G (p.Leu114Arg) c.851T>G (p.Leu284Arg) | |
| 19 | g.48966373T>A | CA508078086 | FTL | c.342T>A (p.Leu114=) c.852T>A (p.Leu284=) | |
| 19 | g.48966373T>C | CA508078088 | FTL | c.342T>C (p.Leu114=) c.852T>C (p.Leu284=) | |
| 19 | g.48966373T>G | CA508078090 | FTL | c.342T>G (p.Leu114=) c.852T>G (p.Leu284=) | |
| 19 | g.48966374C>A | CA406756940 | FTL | c.343C>A (p.His115Asn) c.853C>A (p.His285Asn) | |
| 19 | g.48966374C>G | CA406756942 | FTL | c.343C>G (p.His115Asp) c.853C>G (p.His285Asp) | |
| 19 | g.48966374C>T | CA406756944 | FTL | c.343C>T (p.His115Tyr) c.853C>T (p.His285Tyr) | |
| 19 | g.48966375A>C | CA406756949 | FTL | c.344A>C (p.His115Pro) c.854A>C (p.His285Pro) | |
| 19 | g.48966375A>G | CA406756946 | FTL | c.344A>G (p.His115Arg) c.854A>G (p.His285Arg) | gnomAD v4 |
| 19 | g.48966375A>T | CA406756947 | FTL | c.344A>T (p.His115Leu) c.854A>T (p.His285Leu) | |
| 19 | g.48966376T>A | CA406756951 | FTL | c.345T>A (p.His115Gln) c.855T>A (p.His285Gln) | |
| 19 | g.48966376T>C | CA508078093 | FTL | c.345T>C (p.His115=) c.855T>C (p.His285=) | |
| 19 | g.48966376T>G | CA406756953 | FTL | c.345T>G (p.His115Gln) c.855T>G (p.His285Gln) | |
| 19 | g.48966377G>A | CA406756955 | FTL | c.346G>A (p.Ala116Thr) c.856G>A (p.Ala286Thr) | |
| 19 | g.48966377G>C | CA406756956 | FTL | c.346G>C (p.Ala116Pro) c.856G>C (p.Ala286Pro) | |
| 19 | g.48966377G>T | CA406756957 | FTL | c.346G>T (p.Ala116Ser) c.856G>T (p.Ala286Ser) | |
| 19 | g.48966378C>A | CA406756959 | FTL | c.347C>A (p.Ala116Asp) c.857C>A (p.Ala286Asp) | gnomAD v4 |
| 19 | g.48966378C>G | CA406756961 | FTL | c.347C>G (p.Ala116Gly) c.857C>G (p.Ala286Gly) | |
| 19 | g.48966378C>T | CA406756963 | FTL | c.347C>T (p.Ala116Val) c.857C>T (p.Ala286Val) | |
| 19 | g.48966379C>A | CA508078097 | FTL | c.348C>A (p.Ala116=) c.858C>A (p.Ala286=) | |
| 19 | g.48966379C>G | CA508078098 | FTL | c.348C>G (p.Ala116=) c.858C>G (p.Ala286=) | |
| 19 | g.48966379C>T | CA508078100 | FTL | c.348C>T (p.Ala116=) c.858C>T (p.Ala286=) | dbSNP gnomAD v4 |
| 19 | g.48966380C>A | CA406756964 | FTL | c.349C>A (p.Leu117Met) c.859C>A (p.Leu287Met) | |
| 19 | g.48966380C>G | CA406756966 | FTL | c.349C>G (p.Leu117Val) c.859C>G (p.Leu287Val) | |
| 19 | g.48966380C>T | CA508078102 | FTL | c.349C>T (p.Leu117=) c.859C>T (p.Leu287=) | |
| 19 | g.48966381T>A | CA406756970 | FTL | c.350T>A (p.Leu117Gln) c.860T>A (p.Leu287Gln) | |
| 19 | g.48966381T>C | CA309376551 | FTL | c.350T>C (p.Leu117Pro) c.860T>C (p.Leu287Pro) | |
| 19 | g.48966381T>G | CA406756968 | FTL | c.350T>G (p.Leu117Arg) c.860T>G (p.Leu287Arg) | |
| 19 | g.48966382G>A | CA508078106 | FTL | c.351G>A (p.Leu117=) c.861G>A (p.Leu287=) | |
| 19 | g.48966382G>C | CA508078107 | FTL | c.351G>C (p.Leu117=) c.861G>C (p.Leu287=) | |
| 19 | g.48966382G>T | CA508078110 | FTL | c.351G>T (p.Leu117=) c.861G>T (p.Leu287=) | |
| 19 | g.48966383G>A | CA406756972 | FTL | c.352G>A (p.Gly118Ser) c.862G>A (p.Gly288Ser) | |
| 19 | g.48966383G>C | CA406756974 | FTL | c.352G>C (p.Gly118Arg) c.862G>C (p.Gly288Arg) | |
| 19 | g.48966383G>T | CA406756976 | FTL | c.352G>T (p.Gly118Cys) c.862G>T (p.Gly288Cys) | |
| 19 | g.48966384G>A | CA406756977 | FTL | c.353G>A (p.Gly118Asp) c.863G>A (p.Gly288Asp) | gnomAD v4 |
| 19 | g.48966384G>C | CA406756978 | FTL | c.353G>C (p.Gly118Ala) c.863G>C (p.Gly288Ala) | |
| 19 | g.48966384G>T | CA406756980 | FTL | c.353G>T (p.Gly118Val) c.863G>T (p.Gly288Val) | |
| 19 | g.48966385T>A | CA508078117 | FTL | c.354T>A (p.Gly118=) c.864T>A (p.Gly288=) | |
| 19 | g.48966385T>C | CA508078112 | FTL | c.354T>C (p.Gly118=) c.864T>C (p.Gly288=) | |
| 19 | g.48966385T>G | CA508078116 | FTL | c.354T>G (p.Gly118=) c.864T>G (p.Gly288=) | |
| 19 | g.48966386T>A | CA406756982 | FTL | c.355T>A (p.Ser119Thr) c.865T>A (p.Ser289Thr) | |
| 19 | g.48966386T>C | CA406756984 | FTL | c.355T>C (p.Ser119Pro) c.865T>C (p.Ser289Pro) | dbSNP |
| 19 | g.48966386T>G | CA406756985 | FTL | c.355T>G (p.Ser119Ala) c.865T>G (p.Ser289Ala) | |
| 19 | g.48966387C>A | CA406756987 | FTL | c.356C>A (p.Ser119Tyr) c.866C>A (p.Ser289Tyr) | |
| 19 | g.48966387C>G | CA406756989 | FTL | c.356C>G (p.Ser119Cys) c.866C>G (p.Ser289Cys) | |
| 19 | g.48966387C>T | CA406756991 | FTL | c.356C>T (p.Ser119Phe) c.866C>T (p.Ser289Phe) | |
| 19 | g.48966388T>A | CA508078125 | FTL | c.357T>A (p.Ser119=) c.867T>A (p.Ser289=) | |
| 19 | g.48966388T>C | CA508078126 | FTL | c.357T>C (p.Ser119=) c.867T>C (p.Ser289=) | |
| 19 | g.48966388T>G | CA508078127 | FTL | c.357T>G (p.Ser119=) c.867T>G (p.Ser289=) | |
| 19 | g.48966389_48966412del | CA2573054805 | FTL | c.358_375+6del c.868_885+6del | ClinVar dbSNP |
| 19 | g.48966389G>A | CA406756994 | FTL | c.358G>A (p.Ala120Thr) c.868G>A (p.Ala290Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966389G>C | CA406756996 | FTL | c.358G>C (p.Ala120Pro) c.868G>C (p.Ala290Pro) | |
| 19 | g.48966389G= | CA2340161769 | FTL | c.358G= (p.Ala120=) c.868G= (p.Ala290=) | |
| 19 | g.48966389G>T | CA406756992 | FTL | c.358G>T (p.Ala120Ser) c.868G>T (p.Ala290Ser) | |
| 19 | g.48966390C>A | CA406756998 | FTL | c.359C>A (p.Ala120Asp) c.869C>A (p.Ala290Asp) | |
| 19 | g.48966390C= | CA2340161770 | FTL | c.359C= (p.Ala120=) c.869C= (p.Ala290=) | |
| 19 | g.48966390C>G | CA309376559 | FTL | c.359C>G (p.Ala120Gly) c.869C>G (p.Ala290Gly) | |
| 19 | g.48966390C>T | CA406756999 | FTL | c.359C>T (p.Ala120Val) c.869C>T (p.Ala290Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966391C>A | CA508078134 | FTL | c.360C>A (p.Ala120=) c.870C>A (p.Ala290=) | gnomAD v4 |
| 19 | g.48966391C>G | CA508078136 | FTL | c.360C>G (p.Ala120=) c.870C>G (p.Ala290=) | gnomAD v4 |
| 19 | g.48966391C>T | CA508078138 | FTL | c.360C>T (p.Ala120=) c.870C>T (p.Ala290=) | gnomAD v4 |
| 19 | g.48966392C>A | CA406757000 | FTL | c.361C>A (p.Arg121Ser) c.871C>A (p.Arg291Ser) | |
| 19 | g.48966392C= | CA2340161771 | FTL | c.361C= (p.Arg121=) c.871C= (p.Arg291=) | |
| 19 | g.48966392C>G | CA406757002 | FTL | c.361C>G (p.Arg121Gly) c.871C>G (p.Arg291Gly) | |
| 19 | g.48966392C>T | CA9562540 | FTL | c.361C>T (p.Arg121Cys) c.871C>T (p.Arg291Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966393G>A | CA9562541 | FTL | c.362G>A (p.Arg121His) c.872G>A (p.Arg291His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.48966393G>C | CA406757007 | FTL | c.362G>C (p.Arg121Pro) c.872G>C (p.Arg291Pro) | |
| 19 | g.48966393G= | CA2340161772 | FTL | c.362G= (p.Arg121=) c.872G= (p.Arg291=) | |
| 19 | g.48966393G>T | CA406757005 | FTL | c.362G>T (p.Arg121Leu) c.872G>T (p.Arg291Leu) | dbSNP |
| 19 | g.48966394C>A | CA508078149 | FTL | c.363C>A (p.Arg121=) c.873C>A (p.Arg291=) | |
| 19 | g.48966394C= | CA2340161773 | FTL | c.363C= (p.Arg121=) c.873C= (p.Arg291=) | |
| 19 | g.48966394C>G | CA508078155 | FTL | c.363C>G (p.Arg121=) c.873C>G (p.Arg291=) | |
| 19 | g.48966394C>T | CA9562542 | FTL | c.363C>T (p.Arg121=) c.873C>T (p.Arg291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48966395A>C | CA406757009 | FTL | c.364A>C (p.Thr122Pro) c.874A>C (p.Thr292Pro) | |
| 19 | g.48966395A>G | CA406757011 | FTL | c.364A>G (p.Thr122Ala) c.874A>G (p.Thr292Ala) | |
| 19 | g.48966395A>T | CA406757013 | FTL | c.364A>T (p.Thr122Ser) c.874A>T (p.Thr292Ser) | |
| 19 | g.48966396C>A | CA406757017 | FTL | c.365C>A (p.Thr122Lys) c.875C>A (p.Thr292Lys) | |
| 19 | g.48966396C= | CA2340161774 | FTL | c.365C= (p.Thr122=) c.875C= (p.Thr292=) | |
| 19 | g.48966396C>G | CA309376613 | FTL | c.365C>G (p.Thr122Arg) c.875C>G (p.Thr292Arg) | dbSNP |
| 19 | g.48966396C>T | CA406757015 | FTL | c.365C>T (p.Thr122Met) c.875C>T (p.Thr292Met) | gnomAD v4 |
| 19 | g.48966397G>A | CA9562543 | FTL | c.366G>A (p.Thr122=) c.876G>A (p.Thr292=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966397G>C | CA508078171 | FTL | c.366G>C (p.Thr122=) c.876G>C (p.Thr292=) | |
| 19 | g.48966397G= | CA2340161775 | FTL | c.366G= (p.Thr122=) c.876G= (p.Thr292=) | |
| 19 | g.48966397G>T | CA508078175 | FTL | c.366G>T (p.Thr122=) c.876G>T (p.Thr292=) | |
| 19 | g.48966398G>A | CA406757023 | FTL | c.367G>A (p.Asp123Asn) c.877G>A (p.Asp293Asn) | |
| 19 | g.48966398G>C | CA406757020 | FTL | c.367G>C (p.Asp123His) c.877G>C (p.Asp293His) | |
| 19 | g.48966398G>T | CA406757022 | FTL | c.367G>T (p.Asp123Tyr) c.877G>T (p.Asp293Tyr) | |
| 19 | g.48966399A>C | CA406757025 | FTL | c.368A>C (p.Asp123Ala) c.878A>C (p.Asp293Ala) | |
| 19 | g.48966399A>G | CA406757026 | FTL | c.368A>G (p.Asp123Gly) c.878A>G (p.Asp293Gly) | |
| 19 | g.48966399A>T | CA406757028 | FTL | c.368A>T (p.Asp123Val) c.878A>T (p.Asp293Val) | |
| 19 | g.48966399_48966403delinsACCCC | CA2340161776 | FTL | c.368_372delinsACCCC (p.Asp123=) c.878_882delinsACCCC (p.Asp293=) | |
| 19 | g.48966403_48966416dup | CA2739289548 | FTL | c.372_375+10dup c.882_885+10dup | |
| 19 | g.48966400C>A | CA406757030 | FTL | c.369C>A (p.Asp123Glu) c.879C>A (p.Asp293Glu) | |
| 19 | g.48966400C= | CA2340161778 | FTL | c.369C= (p.Asp123=) c.879C= (p.Asp293=) | |
| 19 | g.48966400C>G | CA406757031 | FTL | c.369C>G (p.Asp123Glu) c.879C>G (p.Asp293Glu) | |
| 19 | g.48966400C>T | CA9562544 | FTL | c.369C>T (p.Asp123=) c.879C>T (p.Asp293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966404del | CA2340161777 | FTL | c.373del (p.His125IlefsTer11) c.883del (p.His295IlefsTer11) | dbSNP |
| 19 | g.48966401_48966404del | CA658658825 | FTL | c.370_373del (p.Pro124IlefsTer11) c.880_883del (p.Pro294IlefsTer11) | ClinVar dbSNP |
| 19 | g.48966401C>A | CA406757033 | FTL | c.370C>A (p.Pro124Thr) c.880C>A (p.Pro294Thr) | |
| 19 | g.48966401C>G | CA406757035 | FTL | c.370C>G (p.Pro124Ala) c.880C>G (p.Pro294Ala) | |
| 19 | g.48966401C>T | CA406757036 | FTL | c.370C>T (p.Pro124Ser) c.880C>T (p.Pro294Ser) | gnomAD v4 |
| 19 | g.48966402C>A | CA406757041 | FTL | c.371C>A (p.Pro124His) c.881C>A (p.Pro294His) | |
| 19 | g.48966402C>G | CA406757039 | FTL | c.371C>G (p.Pro124Arg) c.881C>G (p.Pro294Arg) | |
| 19 | g.48966402C>T | CA406757038 | FTL | c.371C>T (p.Pro124Leu) c.881C>T (p.Pro294Leu) | |
| 19 | g.48966403C>A | CA508078194 | FTL | c.372C>A (p.Pro124=) c.882C>A (p.Pro294=) | |
| 19 | g.48966403C= | CA2340161779 | FTL | c.372C= (p.Pro124=) c.882C= (p.Pro294=) | |
| 19 | g.48966403C>G | CA508078196 | FTL | c.372C>G (p.Pro124=) c.882C>G (p.Pro294=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48966403C>T | CA508078197 | FTL | c.372C>T (p.Pro124=) c.882C>T (p.Pro294=) | |
| 19 | g.48966404C>A | CA406757042 | FTL | c.373C>A (p.His125Asn) c.883C>A (p.His295Asn) | COSMIC |
| 19 | g.48966404C>G | CA406757044 | FTL | c.373C>G (p.His125Asp) c.883C>G (p.His295Asp) | |
| 19 | g.48966404C>T | CA406757045 | FTL | c.373C>T (p.His125Tyr) c.883C>T (p.His295Tyr) | gnomAD v4 |
| 19 | g.48966405A>C | CA406757047 | FTL | c.374A>C (p.His125Pro) c.884A>C (p.His295Pro) | |
| 19 | g.48966405A>G | CA309376625 | FTL | c.374A>G (p.His125Arg) c.884A>G (p.His295Arg) | gnomAD v4 |
| 19 | g.48966405A>T | CA406757049 | FTL | c.374A>T (p.His125Leu) c.884A>T (p.His295Leu) | |
| 19 | g.48966406T>A | CA406757051 | FTL | c.375T>A (p.His125Gln) c.885T>A (p.His295Gln) | |
| 19 | g.48966406T>C | CA9562545 | FTL | c.375T>C (p.His125=) c.885T>C (p.His295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966406T>G | CA406757052 | FTL | c.375T>G (p.His125Gln) c.885T>G (p.His295Gln) | |
| 19 | g.48966406T= | CA2340161780 | FTL | c.375T= (p.His125=) c.885T= (p.His295=) | |
| 19 | g.48966406_48966407insCTCT | CA2814670110 | FTL | c.375_375+1insCTCT (p.Cys127SerfsTer3) c.885_885+1insCTCT (p.Cys297SerfsTer3) | |
| 19 | g.48966406_48966407insCTCTGTGACTTCCTGGA | CA2586288382 | FTL | c.375_375+1insCTCTGTGACTTCCTGGA (n.375_375+1insCTCTGTGACTTCCTGGA) c.885_885+1insCTCTGTGACTTCCTGGA (n.885_885+1insCTCTGTGACTTCCTGGA) | dbSNP gnomAD v4 |
| 19 | g.48966407G>A | CA406757054 | FTL | c.375+1G>A (n.375+1G>A) c.885+1G>A (n.885+1G>A) | |
| 19 | g.48966407G>C | CA309376642 | FTL | c.375+1G>C (n.375+1G>C) c.885+1G>C (n.885+1G>C) | dbSNP |
| 19 | g.48966407G= | CA2340161781 | FTL | c.375+1G= (n.375+1G=) c.885+1G= (n.885+1G=) | |
| 19 | g.48966407G>T | CA406757057 | FTL | c.375+1G>T (n.375+1G>T) c.885+1G>T (n.885+1G>T) | |
| 19 | g.48966407_48966582del | CA645607033 | FTL | c.375+1_376-1del (n.375+1_376-1del) c.885+1_886-1del (n.885+1_886-1del) | COSMIC |
| 19 | g.48966408T>A | CA406757059 | FTL | c.375+2T>A (n.375+2T>A) c.885+2T>A (n.885+2T>A) | gnomAD v4 |
| 19 | g.48966408T>C | CA406757061 | FTL | c.375+2T>C (n.375+2T>C) c.885+2T>C (n.885+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48966408T>G | CA406757058 | FTL | c.375+2T>G (n.375+2T>G) c.885+2T>G (n.885+2T>G) | |
| 19 | g.48966408T= | CA2340161782 | FTL | c.375+2T= (n.375+2T=) c.885+2T= (n.885+2T=) | |
| 19 | g.48966408dup | CA2586288383 | FTL | c.375+2dup (n.375+2dup) c.885+2dup (n.885+2dup) | gnomAD v4 |
| 19 | g.48966408_48966409insGACTTCCTGGAG | CA2814670111 | FTL | c.375+2_375+3insGACTTCCTGGAG (n.375+2_375+3insGACTTCCTGGAG) c.885+2_885+3insGACTTCCTGGAG (n.885+2_885+3insGACTTCCTGGAG) | |
| 19 | g.48966409A= | CA2340161783 | FTL | c.375+3A= (n.375+3A=) c.885+3A= (n.885+3A=) | |
| 19 | g.48966409A>C | CA309376648 | FTL | c.375+3A>C (n.375+3A>C) c.885+3A>C (n.885+3A>C) | dbSNP |
| 19 | g.48966409A>G | CA2576844659 | FTL | c.375+3A>G (n.375+3A>G) c.885+3A>G (n.885+3A>G) | |
| 19 | g.48966410C= | CA2340161784 | FTL | c.375+4C= (n.375+4C=) c.885+4C= (n.885+4C=) | |
| 19 | g.48966410C>T | CA9562546 | FTL | c.375+4C>T (n.375+4C>T) c.885+4C>T (n.885+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966411G>A | CA9562547 | FTL | c.375+5G>A (n.375+5G>A) c.885+5G>A (n.885+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966411G= | CA2340161785 | FTL | c.375+5G= (n.375+5G=) c.885+5G= (n.885+5G=) | |
| 19 | g.48966413A= | CA2340161786 | FTL | c.375+7A= (n.375+7A=) c.885+7A= (n.885+7A=) | |
| 19 | g.48966413A>G | CA309376649 | FTL | c.375+7A>G (n.375+7A>G) c.885+7A>G (n.885+7A>G) | dbSNP |
| 19 | g.48966414C>G | CA2586288385 | FTL | c.375+8C>G (n.375+8C>G) c.885+8C>G (n.885+8C>G) | gnomAD v4 |
| 19 | g.48966416del | CA2586288384 | FTL | c.375+10del (n.375+10del) c.885+10del (n.885+10del) | gnomAD v4 |
| 19 | g.48966415C>A | CA633607498 | FTL | c.375+9C>A (n.375+9C>A) c.885+9C>A (n.885+9C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48966415C= | CA2340161787 | FTL | c.375+9C= (n.375+9C=) c.885+9C= (n.885+9C=) | |
| 19 | g.48966416C>A | CA309376651 | FTL | c.375+10C>A (n.375+10C>A) c.885+10C>A (n.885+10C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966416C= | CA2340161788 | FTL | c.375+10C= (n.375+10C=) c.885+10C= (n.885+10C=) | |
| 19 | g.48966416C>G | CA633607499 | FTL | c.375+10C>G (n.375+10C>G) c.885+10C>G (n.885+10C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966416C>T | CA9562548 | FTL | c.375+10C>T (n.375+10C>T) c.885+10C>T (n.885+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966417G>A | CA9562549 | FTL | c.375+11G>A (n.375+11G>A) c.885+11G>A (n.885+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.48966417G= | CA2340161789 | FTL | c.375+11G= (n.375+11G=) c.885+11G= (n.885+11G=) | |
| 19 | g.48966417G>T | CA633607501 | FTL | c.375+11G>T (n.375+11G>T) c.885+11G>T (n.885+11G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966418C>T | CA2586288386 | FTL | c.375+12C>T (n.375+12C>T) c.885+12C>T (n.885+12C>T) | gnomAD v4 |
| 19 | g.48966421C>A | CA2576844660 | FTL | c.375+15C>A (n.375+15C>A) c.885+15C>A (n.885+15C>A) | ClinVar gnomAD v4 |
| 19 | g.48966421C= | CA2340161790 | FTL | c.375+15C= (n.375+15C=) c.885+15C= (n.885+15C=) | |
| 19 | g.48966421C>T | CA633607502 | FTL | c.375+15C>T (n.375+15C>T) c.885+15C>T (n.885+15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48966422A= | CA2340161791 | FTL | c.375+16A= (n.375+16A=) c.885+16A= (n.885+16A=) | |
| 19 | g.48966422A>G | CA996658171 | FTL | c.375+16A>G (n.375+16A>G) c.885+16A>G (n.885+16A>G) | dbSNP gnomAD v3 gnomAD v4 |