WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72108617G>A | CA10639357 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G>A (p.Val157Met) c.450G>A (p.Ser150=) c.568G>A (p.Val190Met) c.447G>A (p.Ser149=) c.*287G>A (n.*287G>A) c.64-1012C>T (n.64-1012C>T) c.319-1012C>T (n.319-1012C>T) c.448G>A (p.Val150Met) c.793G>A (p.Val265Met) c.*202C>T (n.*202C>T) n.826C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72108617G>C | CA381723542 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G>C (p.Val157Leu) c.450G>C (p.Ser150=) c.568G>C (p.Val190Leu) c.447G>C (p.Ser149=) c.*287G>C (n.*287G>C) c.64-1012C>G (n.64-1012C>G) c.319-1012C>G (n.319-1012C>G) c.448G>C (p.Val150Leu) c.793G>C (p.Val265Leu) c.*202C>G (n.*202C>G) n.826C>G | |
| 11 | g.72108617G= | CA1981841022 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G= (p.Val157=) c.450G= (p.Ser150=) c.568G= (p.Val190=) c.447G= (p.Ser149=) c.*287G= (n.*287G=) c.64-1012C= (n.64-1012C=) c.319-1012C= (n.319-1012C=) c.448G= (p.Val150=) c.793G= (p.Val265=) c.*202C= (n.*202C=) n.826C= | |
| 11 | g.72108617G>T | CA381723538 | ANAPC15,LRRC51,LRTOMT,TOMT | c.469G>T (p.Val157Leu) c.450G>T (p.Ser150=) c.568G>T (p.Val190Leu) c.447G>T (p.Ser149=) c.*287G>T (n.*287G>T) c.64-1012C>A (n.64-1012C>A) c.319-1012C>A (n.319-1012C>A) c.448G>T (p.Val150Leu) c.793G>T (p.Val265Leu) c.*202C>A (n.*202C>A) n.826C>A | gnomAD v4 |
| 11 | g.72108618_72108620del | CA2574912156 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470_472del (p.Val157del) c.451_453del (p.Trp151del) c.569_571del (p.Val190del) c.448_450del (p.Trp150del) c.*288_*290del (n.*288_*290del) c.64-1014_64-1012del (n.64-1014_64-1012del) c.319-1014_319-1012del (n.319-1014_319-1012del) c.449_451del (p.Val150del) c.794_796del (p.Val265del) c.*200_*202del (n.*200_*202del) n.824_826del | |
| 11 | g.72108618T>A | CA381723543 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T>A (p.Val157Glu) c.451T>A (p.Trp151Arg) c.569T>A (p.Val190Glu) c.448T>A (p.Trp150Arg) c.*288T>A (n.*288T>A) c.64-1013A>T (n.64-1013A>T) c.319-1013A>T (n.319-1013A>T) c.449T>A (p.Val150Glu) c.794T>A (p.Val265Glu) c.*201A>T (n.*201A>T) n.825A>T | |
| 11 | g.72108618T>C | CA381723549 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T>C (p.Val157Ala) c.451T>C (p.Trp151Arg) c.569T>C (p.Val190Ala) c.448T>C (p.Trp150Arg) c.*288T>C (n.*288T>C) c.64-1013A>G (n.64-1013A>G) c.319-1013A>G (n.319-1013A>G) c.449T>C (p.Val150Ala) c.794T>C (p.Val265Ala) c.*201A>G (n.*201A>G) n.825A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.72108618T>G | CA381723545 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T>G (p.Val157Gly) c.451T>G (p.Trp151Gly) c.569T>G (p.Val190Gly) c.448T>G (p.Trp150Gly) c.*288T>G (n.*288T>G) c.64-1013A>C (n.64-1013A>C) c.319-1013A>C (n.319-1013A>C) c.449T>G (p.Val150Gly) c.794T>G (p.Val265Gly) c.*201A>C (n.*201A>C) n.825A>C | |
| 11 | g.72108618T= | CA1981841023 | ANAPC15,LRRC51,LRTOMT,TOMT | c.470T= (p.Val157=) c.451T= (p.Trp151=) c.569T= (p.Val190=) c.448T= (p.Trp150=) c.*288T= (n.*288T=) c.64-1013A= (n.64-1013A=) c.319-1013A= (n.319-1013A=) c.449T= (p.Val150=) c.794T= (p.Val265=) c.*201A= (n.*201A=) n.825A= | |
| 11 | g.72108619G>A | CA381723554 | ANAPC15,LRRC51,LRTOMT,TOMT | c.471G>A (p.Val157=) c.452G>A (p.Trp151Ter) c.570G>A (p.Val190=) c.449G>A (p.Trp150Ter) c.*289G>A (n.*289G>A) c.64-1014C>T (n.64-1014C>T) c.319-1014C>T (n.319-1014C>T) c.450G>A (p.Val150=) c.795G>A (p.Val265=) c.*200C>T (n.*200C>T) n.824C>T | gnomAD v4 |
| 11 | g.72108619G>C | CA381723556 | ANAPC15,LRRC51,LRTOMT,TOMT | c.471G>C (p.Val157=) c.452G>C (p.Trp151Ser) c.570G>C (p.Val190=) c.449G>C (p.Trp150Ser) c.*289G>C (n.*289G>C) c.64-1014C>G (n.64-1014C>G) c.319-1014C>G (n.319-1014C>G) c.450G>C (p.Val150=) c.795G>C (p.Val265=) c.*200C>G (n.*200C>G) n.824C>G | |
| 11 | g.72108619G>T | CA381723560 | ANAPC15,LRRC51,LRTOMT,TOMT | c.471G>T (p.Val157=) c.452G>T (p.Trp151Leu) c.570G>T (p.Val190=) c.449G>T (p.Trp150Leu) c.*289G>T (n.*289G>T) c.64-1014C>A (n.64-1014C>A) c.319-1014C>A (n.319-1014C>A) c.450G>T (p.Val150=) c.795G>T (p.Val265=) c.*200C>A (n.*200C>A) n.824C>A | gnomAD v4 |
| 11 | g.72108620G>A | CA381723564 | ANAPC15,LRRC51,LRTOMT,TOMT | c.472G>A (p.Gly158Ser) c.453G>A (p.Trp151Ter) c.571G>A (p.Gly191Ser) c.450G>A (p.Trp150Ter) c.*290G>A (n.*290G>A) c.64-1015C>T (n.64-1015C>T) c.319-1015C>T (n.319-1015C>T) c.451G>A (p.Gly151Ser) c.796G>A (p.Gly266Ser) c.*199C>T (n.*199C>T) n.823C>T | |
| 11 | g.72108620G>C | CA381723567 | ANAPC15,LRRC51,LRTOMT,TOMT | c.472G>C (p.Gly158Arg) c.453G>C (p.Trp151Cys) c.571G>C (p.Gly191Arg) c.450G>C (p.Trp150Cys) c.*290G>C (n.*290G>C) c.64-1015C>G (n.64-1015C>G) c.319-1015C>G (n.319-1015C>G) c.451G>C (p.Gly151Arg) c.796G>C (p.Gly266Arg) c.*199C>G (n.*199C>G) n.823C>G | |
| 11 | g.72108620G>T | CA381723570 | ANAPC15,LRRC51,LRTOMT,TOMT | c.472G>T (p.Gly158Cys) c.453G>T (p.Trp151Cys) c.571G>T (p.Gly191Cys) c.450G>T (p.Trp150Cys) c.*290G>T (n.*290G>T) c.64-1015C>A (n.64-1015C>A) c.319-1015C>A (n.319-1015C>A) c.451G>T (p.Gly151Cys) c.796G>T (p.Gly266Cys) c.*199C>A (n.*199C>A) n.823C>A | gnomAD v4 |
| 11 | g.72108621G>A | CA381723576 | ANAPC15,LRRC51,LRTOMT,TOMT | c.473G>A (p.Gly158Asp) c.454G>A (p.Ala152Thr) c.572G>A (p.Gly191Asp) c.451G>A (p.Ala151Thr) c.*291G>A (n.*291G>A) c.64-1016C>T (n.64-1016C>T) c.319-1016C>T (n.319-1016C>T) c.452G>A (p.Gly151Asp) c.797G>A (p.Gly266Asp) c.*198C>T (n.*198C>T) n.822C>T | gnomAD v4 |
| 11 | g.72108621G>C | CA381723578 | ANAPC15,LRRC51,LRTOMT,TOMT | c.473G>C (p.Gly158Ala) c.454G>C (p.Ala152Pro) c.572G>C (p.Gly191Ala) c.451G>C (p.Ala151Pro) c.*291G>C (n.*291G>C) c.64-1016C>G (n.64-1016C>G) c.319-1016C>G (n.319-1016C>G) c.452G>C (p.Gly151Ala) c.797G>C (p.Gly266Ala) c.*198C>G (n.*198C>G) n.822C>G | |
| 11 | g.72108621G>T | CA381723585 | ANAPC15,LRRC51,LRTOMT,TOMT | c.473G>T (p.Gly158Val) c.454G>T (p.Ala152Ser) c.572G>T (p.Gly191Val) c.451G>T (p.Ala151Ser) c.*291G>T (n.*291G>T) c.64-1016C>A (n.64-1016C>A) c.319-1016C>A (n.319-1016C>A) c.452G>T (p.Gly151Val) c.797G>T (p.Gly266Val) c.*198C>A (n.*198C>A) n.822C>A | gnomAD v4 |
| 11 | g.72108622C>A | CA381723594 | ANAPC15,LRRC51,LRTOMT,TOMT | c.474C>A (p.Gly158=) c.455C>A (p.Ala152Glu) c.573C>A (p.Gly191=) c.452C>A (p.Ala151Glu) c.*292C>A (n.*292C>A) c.64-1017G>T (n.64-1017G>T) c.319-1017G>T (n.319-1017G>T) c.453C>A (p.Gly151=) c.798C>A (p.Gly266=) c.*197G>T (n.*197G>T) n.821G>T | gnomAD v4 |
| 11 | g.72108622C>G | CA381723602 | ANAPC15,LRRC51,LRTOMT,TOMT | c.474C>G (p.Gly158=) c.455C>G (p.Ala152Gly) c.573C>G (p.Gly191=) c.452C>G (p.Ala151Gly) c.*292C>G (n.*292C>G) c.64-1017G>C (n.64-1017G>C) c.319-1017G>C (n.319-1017G>C) c.453C>G (p.Gly151=) c.798C>G (p.Gly266=) c.*197G>C (n.*197G>C) n.821G>C | |
| 11 | g.72108622C>T | CA381723608 | ANAPC15,LRRC51,LRTOMT,TOMT | c.474C>T (p.Gly158=) c.455C>T (p.Ala152Val) c.573C>T (p.Gly191=) c.452C>T (p.Ala151Val) c.*292C>T (n.*292C>T) c.64-1017G>A (n.64-1017G>A) c.319-1017G>A (n.319-1017G>A) c.453C>T (p.Gly151=) c.798C>T (p.Gly266=) c.*197G>A (n.*197G>A) n.821G>A | gnomAD v4 |
| 11 | g.72108623A>C | CA381723619 | ANAPC15,LRRC51,LRTOMT,TOMT | c.475A>C (p.Ser159Arg) c.456A>C (p.Ala152=) c.574A>C (p.Ser192Arg) c.453A>C (p.Ala151=) c.*293A>C (n.*293A>C) c.64-1018T>G (n.64-1018T>G) c.319-1018T>G (n.319-1018T>G) c.454A>C (p.Ser152Arg) c.799A>C (p.Ser267Arg) c.*196T>G (n.*196T>G) n.820T>G | |
| 11 | g.72108623A>G | CA381723621 | ANAPC15,LRRC51,LRTOMT,TOMT | c.475A>G (p.Ser159Gly) c.456A>G (p.Ala152=) c.574A>G (p.Ser192Gly) c.453A>G (p.Ala151=) c.*293A>G (n.*293A>G) c.64-1018T>C (n.64-1018T>C) c.319-1018T>C (n.319-1018T>C) c.454A>G (p.Ser152Gly) c.799A>G (p.Ser267Gly) c.*196T>C (n.*196T>C) n.820T>C | |
| 11 | g.72108623A>T | CA381723620 | ANAPC15,LRRC51,LRTOMT,TOMT | c.475A>T (p.Ser159Cys) c.456A>T (p.Ala152=) c.574A>T (p.Ser192Cys) c.453A>T (p.Ala151=) c.*293A>T (n.*293A>T) c.64-1018T>A (n.64-1018T>A) c.319-1018T>A (n.319-1018T>A) c.454A>T (p.Ser152Cys) c.799A>T (p.Ser267Cys) c.*196T>A (n.*196T>A) n.820T>A | |
| 11 | g.72108624G>A | CA381723626 | ANAPC15,LRRC51,LRTOMT,TOMT | c.476G>A (p.Ser159Asn) c.457G>A (p.Ala153Thr) c.575G>A (p.Ser192Asn) c.454G>A (p.Ala152Thr) c.*294G>A (n.*294G>A) c.64-1019C>T (n.64-1019C>T) c.319-1019C>T (n.319-1019C>T) c.455G>A (p.Ser152Asn) c.800G>A (p.Ser267Asn) c.*195C>T (n.*195C>T) n.819C>T | gnomAD v4 |
| 11 | g.72108624G>C | CA381723650 | ANAPC15,LRRC51,LRTOMT,TOMT | c.476G>C (p.Ser159Thr) c.457G>C (p.Ala153Pro) c.575G>C (p.Ser192Thr) c.454G>C (p.Ala152Pro) c.*294G>C (n.*294G>C) c.64-1019C>G (n.64-1019C>G) c.319-1019C>G (n.319-1019C>G) c.455G>C (p.Ser152Thr) c.800G>C (p.Ser267Thr) c.*195C>G (n.*195C>G) n.819C>G | |
| 11 | g.72108624G>T | CA381723654 | ANAPC15,LRRC51,LRTOMT,TOMT | c.476G>T (p.Ser159Ile) c.457G>T (p.Ala153Ser) c.575G>T (p.Ser192Ile) c.454G>T (p.Ala152Ser) c.*294G>T (n.*294G>T) c.64-1019C>A (n.64-1019C>A) c.319-1019C>A (n.319-1019C>A) c.455G>T (p.Ser152Ile) c.800G>T (p.Ser267Ile) c.*195C>A (n.*195C>A) n.819C>A | gnomAD v4 |
| 11 | g.72108625C>A | CA381723661 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C>A (p.Ser159Arg) c.458C>A (p.Ala153Asp) c.576C>A (p.Ser192Arg) c.455C>A (p.Ala152Asp) c.*295C>A (n.*295C>A) c.64-1020G>T (n.64-1020G>T) c.319-1020G>T (n.319-1020G>T) c.456C>A (p.Ser152Arg) c.801C>A (p.Ser267Arg) c.*194G>T (n.*194G>T) n.818G>T | |
| 11 | g.72108625C= | CA1981841024 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C= (p.Ser159=) c.458C= (p.Ala153=) c.576C= (p.Ser192=) c.455C= (p.Ala152=) c.*295C= (n.*295C=) c.64-1020G= (n.64-1020G=) c.319-1020G= (n.319-1020G=) c.456C= (p.Ser152=) c.801C= (p.Ser267=) c.*194G= (n.*194G=) n.818G= | |
| 11 | g.72108625C>G | CA381723679 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C>G (p.Ser159Arg) c.458C>G (p.Ala153Gly) c.576C>G (p.Ser192Arg) c.455C>G (p.Ala152Gly) c.*295C>G (n.*295C>G) c.64-1020G>C (n.64-1020G>C) c.319-1020G>C (n.319-1020G>C) c.456C>G (p.Ser152Arg) c.801C>G (p.Ser267Arg) c.*194G>C (n.*194G>C) n.818G>C | |
| 11 | g.72108625C>T | CA224375550 | ANAPC15,LRRC51,LRTOMT,TOMT | c.477C>T (p.Ser159=) c.458C>T (p.Ala153Val) c.576C>T (p.Ser192=) c.455C>T (p.Ala152Val) c.*295C>T (n.*295C>T) c.64-1020G>A (n.64-1020G>A) c.319-1020G>A (n.319-1020G>A) c.456C>T (p.Ser152=) c.801C>T (p.Ser267=) c.*194G>A (n.*194G>A) n.818G>A | dbSNP gnomAD v4 |
| 11 | g.72108626T>A | CA381723696 | ANAPC15,LRRC51,LRTOMT,TOMT | c.478T>A (p.Ser160Thr) c.459T>A (p.Ala153=) c.577T>A (p.Ser193Thr) c.456T>A (p.Ala152=) c.*296T>A (n.*296T>A) c.64-1021A>T (n.64-1021A>T) c.319-1021A>T (n.319-1021A>T) c.457T>A (p.Ser153Thr) c.802T>A (p.Ser268Thr) c.*193A>T (n.*193A>T) n.817A>T | |
| 11 | g.72108626T>C | CA381723700 | ANAPC15,LRRC51,LRTOMT,TOMT | c.478T>C (p.Ser160Pro) c.459T>C (p.Ala153=) c.577T>C (p.Ser193Pro) c.456T>C (p.Ala152=) c.*296T>C (n.*296T>C) c.64-1021A>G (n.64-1021A>G) c.319-1021A>G (n.319-1021A>G) c.457T>C (p.Ser153Pro) c.802T>C (p.Ser268Pro) c.*193A>G (n.*193A>G) n.817A>G | gnomAD v4 |
| 11 | g.72108626T>G | CA381723705 | ANAPC15,LRRC51,LRTOMT,TOMT | c.478T>G (p.Ser160Ala) c.459T>G (p.Ala153=) c.577T>G (p.Ser193Ala) c.456T>G (p.Ala152=) c.*296T>G (n.*296T>G) c.64-1021A>C (n.64-1021A>C) c.319-1021A>C (n.319-1021A>C) c.457T>G (p.Ser153Ala) c.802T>G (p.Ser268Ala) c.*193A>C (n.*193A>C) n.817A>C | |
| 11 | g.72108627C>A | CA381723719 | ANAPC15,LRRC51,LRTOMT,TOMT | c.479C>A (p.Ser160Ter) c.460C>A (p.Gln154Lys) c.578C>A (p.Ser193Ter) c.457C>A (p.Gln153Lys) c.*297C>A (n.*297C>A) c.64-1022G>T (n.64-1022G>T) c.319-1022G>T (n.319-1022G>T) c.458C>A (p.Ser153Ter) c.803C>A (p.Ser268Ter) c.*192G>T (n.*192G>T) n.816G>T | |
| 11 | g.72108627C>G | CA381723728 | ANAPC15,LRRC51,LRTOMT,TOMT | c.479C>G (p.Ser160Ter) c.460C>G (p.Gln154Glu) c.578C>G (p.Ser193Ter) c.457C>G (p.Gln153Glu) c.*297C>G (n.*297C>G) c.64-1022G>C (n.64-1022G>C) c.319-1022G>C (n.319-1022G>C) c.458C>G (p.Ser153Ter) c.803C>G (p.Ser268Ter) c.*192G>C (n.*192G>C) n.816G>C | |
| 11 | g.72108627C>T | CA381723715 | ANAPC15,LRRC51,LRTOMT,TOMT | c.479C>T (p.Ser160Leu) c.460C>T (p.Gln154Ter) c.578C>T (p.Ser193Leu) c.457C>T (p.Gln153Ter) c.*297C>T (n.*297C>T) c.64-1022G>A (n.64-1022G>A) c.319-1022G>A (n.319-1022G>A) c.458C>T (p.Ser153Leu) c.803C>T (p.Ser268Leu) c.*192G>A (n.*192G>A) n.816G>A | |
| 11 | g.72108628A>C | CA381723750 | ANAPC15,LRRC51,LRTOMT,TOMT | c.480A>C (p.Ser160=) c.461A>C (p.Gln154Pro) c.579A>C (p.Ser193=) c.458A>C (p.Gln153Pro) c.*298A>C (n.*298A>C) c.64-1023T>G (n.64-1023T>G) c.319-1023T>G (n.319-1023T>G) c.459A>C (p.Ser153=) c.804A>C (p.Ser268=) c.*191T>G (n.*191T>G) n.815T>G | gnomAD v4 |
| 11 | g.72108628A>G | CA381723755 | ANAPC15,LRRC51,LRTOMT,TOMT | c.480A>G (p.Ser160=) c.461A>G (p.Gln154Arg) c.579A>G (p.Ser193=) c.458A>G (p.Gln153Arg) c.*298A>G (n.*298A>G) c.64-1023T>C (n.64-1023T>C) c.319-1023T>C (n.319-1023T>C) c.459A>G (p.Ser153=) c.804A>G (p.Ser268=) c.*191T>C (n.*191T>C) n.815T>C | |
| 11 | g.72108628A>T | CA381723757 | ANAPC15,LRRC51,LRTOMT,TOMT | c.480A>T (p.Ser160=) c.461A>T (p.Gln154Leu) c.579A>T (p.Ser193=) c.458A>T (p.Gln153Leu) c.*298A>T (n.*298A>T) c.64-1023T>A (n.64-1023T>A) c.319-1023T>A (n.319-1023T>A) c.459A>T (p.Ser153=) c.804A>T (p.Ser268=) c.*191T>A (n.*191T>A) n.815T>A | |
| 11 | g.72108629G>A | CA381723771 | ANAPC15,LRRC51,LRTOMT,TOMT | c.481G>A (p.Glu161Lys) c.462G>A (p.Gln154=) c.580G>A (p.Glu194Lys) c.459G>A (p.Gln153=) c.*299G>A (n.*299G>A) c.64-1024C>T (n.64-1024C>T) c.319-1024C>T (n.319-1024C>T) c.460G>A (p.Glu154Lys) c.805G>A (p.Glu269Lys) c.*190C>T (n.*190C>T) n.814C>T | gnomAD v4 |
| 11 | g.72108629G>C | CA381723778 | ANAPC15,LRRC51,LRTOMT,TOMT | c.481G>C (p.Glu161Gln) c.462G>C (p.Gln154His) c.580G>C (p.Glu194Gln) c.459G>C (p.Gln153His) c.*299G>C (n.*299G>C) c.64-1024C>G (n.64-1024C>G) c.319-1024C>G (n.319-1024C>G) c.460G>C (p.Glu154Gln) c.805G>C (p.Glu269Gln) c.*190C>G (n.*190C>G) n.814C>G | |
| 11 | g.72108629G>T | CA381723783 | ANAPC15,LRRC51,LRTOMT,TOMT | c.481G>T (p.Glu161Ter) c.462G>T (p.Gln154His) c.580G>T (p.Glu194Ter) c.459G>T (p.Gln153His) c.*299G>T (n.*299G>T) c.64-1024C>A (n.64-1024C>A) c.319-1024C>A (n.319-1024C>A) c.460G>T (p.Glu154Ter) c.805G>T (p.Glu269Ter) c.*190C>A (n.*190C>A) n.814C>A | gnomAD v4 |
| 11 | g.72108630A>C | CA381723792 | ANAPC15,LRRC51,LRTOMT,TOMT | c.482A>C (p.Glu161Ala) c.463A>C (p.Arg155=) c.581A>C (p.Glu194Ala) c.460A>C (p.Arg154=) c.*300A>C (n.*300A>C) c.64-1025T>G (n.64-1025T>G) c.319-1025T>G (n.319-1025T>G) c.461A>C (p.Glu154Ala) c.806A>C (p.Glu269Ala) c.*189T>G (n.*189T>G) n.813T>G | |
| 11 | g.72108630A>G | CA381723794 | ANAPC15,LRRC51,LRTOMT,TOMT | c.482A>G (p.Glu161Gly) c.463A>G (p.Arg155Gly) c.581A>G (p.Glu194Gly) c.460A>G (p.Arg154Gly) c.*300A>G (n.*300A>G) c.64-1025T>C (n.64-1025T>C) c.319-1025T>C (n.319-1025T>C) c.461A>G (p.Glu154Gly) c.806A>G (p.Glu269Gly) c.*189T>C (n.*189T>C) n.813T>C | |
| 11 | g.72108630A>T | CA381723795 | ANAPC15,LRRC51,LRTOMT,TOMT | c.482A>T (p.Glu161Val) c.463A>T (p.Arg155Trp) c.581A>T (p.Glu194Val) c.460A>T (p.Arg154Trp) c.*300A>T (n.*300A>T) c.64-1025T>A (n.64-1025T>A) c.319-1025T>A (n.319-1025T>A) c.461A>T (p.Glu154Val) c.806A>T (p.Glu269Val) c.*189T>A (n.*189T>A) n.813T>A | |
| 11 | g.72108631G>A | CA381723799 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G>A (p.Glu161=) c.464G>A (p.Arg155Lys) c.582G>A (p.Glu194=) c.461G>A (p.Arg154Lys) c.*301G>A (n.*301G>A) c.64-1026C>T (n.64-1026C>T) c.319-1026C>T (n.319-1026C>T) c.462G>A (p.Glu154=) c.807G>A (p.Glu269=) c.*188C>T (n.*188C>T) n.812C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72108631G>C | CA381723807 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G>C (p.Glu161Asp) c.464G>C (p.Arg155Thr) c.582G>C (p.Glu194Asp) c.461G>C (p.Arg154Thr) c.*301G>C (n.*301G>C) c.64-1026C>G (n.64-1026C>G) c.319-1026C>G (n.319-1026C>G) c.462G>C (p.Glu154Asp) c.807G>C (p.Glu269Asp) c.*188C>G (n.*188C>G) n.812C>G | |
| 11 | g.72108631G= | CA1981841025 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G= (p.Glu161=) c.464G= (p.Arg155=) c.582G= (p.Glu194=) c.461G= (p.Arg154=) c.*301G= (n.*301G=) c.64-1026C= (n.64-1026C=) c.319-1026C= (n.319-1026C=) c.462G= (p.Glu154=) c.807G= (p.Glu269=) c.*188C= (n.*188C=) n.812C= | |
| 11 | g.72108631G>T | CA381723811 | ANAPC15,LRRC51,LRTOMT,TOMT | c.483G>T (p.Glu161Asp) c.464G>T (p.Arg155Met) c.582G>T (p.Glu194Asp) c.461G>T (p.Arg154Met) c.*301G>T (n.*301G>T) c.64-1026C>A (n.64-1026C>A) c.319-1026C>A (n.319-1026C>A) c.462G>T (p.Glu154Asp) c.807G>T (p.Glu269Asp) c.*188C>A (n.*188C>A) n.812C>A | gnomAD v4 |