Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.45293169A= | CA2408185371 | UPK3A | c.572-12A= (n.572-12A=) c.209-12A= (n.209-12A=) c.578-12A= (n.578-12A=) c.215-12A= (n.215-12A=) | |
22 | g.45293169A>T | CA2408185372 | UPK3A | c.572-12A>T (n.572-12A>T) c.209-12A>T (n.209-12A>T) c.578-12A>T (n.578-12A>T) c.215-12A>T (n.215-12A>T) | dbSNP |
22 | g.45293171C>T | CA2577748620 | UPK3A | c.572-10C>T (n.572-10C>T) c.209-10C>T (n.209-10C>T) c.578-10C>T (n.578-10C>T) c.215-10C>T (n.215-10C>T) | gnomAD v4 |
22 | g.45293172C>A | CA639614105 | UPK3A | c.572-9C>A (n.572-9C>A) c.209-9C>A (n.209-9C>A) c.578-9C>A (n.578-9C>A) c.215-9C>A (n.215-9C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293172C= | CA2408185373 | UPK3A | c.572-9C= (n.572-9C=) c.209-9C= (n.209-9C=) c.578-9C= (n.578-9C=) c.215-9C= (n.215-9C=) | |
22 | g.45293173C>A | CA645614209 | UPK3A | c.572-8C>A (n.572-8C>A) c.209-8C>A (n.209-8C>A) c.578-8C>A (n.578-8C>A) c.215-8C>A (n.215-8C>A) | COSMIC |
22 | g.45293175C>A | CA2657267247 | UPK3A | c.572-6C>A (n.572-6C>A) c.209-6C>A (n.209-6C>A) c.578-6C>A (n.578-6C>A) c.215-6C>A (n.215-6C>A) | gnomAD v4 |
22 | g.45293175C= | CA2408185375 | UPK3A | c.572-6C= (n.572-6C=) c.209-6C= (n.209-6C=) c.578-6C= (n.578-6C=) c.215-6C= (n.215-6C=) | |
22 | g.45293175C>T | CA10284474 | UPK3A | c.572-6C>T (n.572-6C>T) c.209-6C>T (n.209-6C>T) c.578-6C>T (n.578-6C>T) c.215-6C>T (n.215-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293175_45293177delinsCCA | CA2408185374 | UPK3A | c.572-6_572-4delinsCCA (n.572-6_572-4delinsCCA) c.209-6_209-4delinsCCA (n.209-6_209-4delinsCCA) c.578-6_578-4delinsCCA (n.578-6_578-4delinsCCA) c.215-6_215-4delinsCCA (n.215-6_215-4delinsCCA) | |
22 | g.45293176C= | CA2408185376 | UPK3A | c.572-5C= (n.572-5C=) c.209-5C= (n.209-5C=) c.578-5C= (n.578-5C=) c.215-5C= (n.215-5C=) | |
22 | g.45293176C>T | CA10284475 | UPK3A | c.572-5C>T (n.572-5C>T) c.209-5C>T (n.209-5C>T) c.578-5C>T (n.578-5C>T) c.215-5C>T (n.215-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293178_45293179del | CA753582952 | UPK3A | c.572-3_572-2del (n.572-3_572-2del) c.209-3_209-2del (n.209-3_209-2del) c.578-3_578-2del (n.578-3_578-2del) c.215-3_215-2del (n.215-3_215-2del) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293178C>T | CA2577748621 | UPK3A | c.572-3C>T (n.572-3C>T) c.209-3C>T (n.209-3C>T) c.578-3C>T (n.578-3C>T) c.215-3C>T (n.215-3C>T) | gnomAD v4 |
22 | g.45293179A>C | CA411878934 | UPK3A | c.572-2A>C (n.572-2A>C) c.209-2A>C (n.209-2A>C) c.578-2A>C (n.578-2A>C) c.215-2A>C (n.215-2A>C) | |
22 | g.45293179A>G | CA411878937 | UPK3A | c.572-2A>G (n.572-2A>G) c.209-2A>G (n.209-2A>G) c.578-2A>G (n.578-2A>G) c.215-2A>G (n.215-2A>G) | |
22 | g.45293179A>T | CA411878940 | UPK3A | c.572-2A>T (n.572-2A>T) c.209-2A>T (n.209-2A>T) c.578-2A>T (n.578-2A>T) c.215-2A>T (n.215-2A>T) | |
22 | g.45293180G>A | CA10284476 | UPK3A | c.572-1G>A (n.572-1G>A) c.209-1G>A (n.209-1G>A) c.578-1G>A (n.578-1G>A) c.215-1G>A (n.215-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293180G>C | CA411878947 | UPK3A | c.572-1G>C (n.572-1G>C) c.209-1G>C (n.209-1G>C) c.578-1G>C (n.578-1G>C) c.215-1G>C (n.215-1G>C) | |
22 | g.45293180G= | CA2408185377 | UPK3A | c.572-1G= (n.572-1G=) c.209-1G= (n.209-1G=) c.578-1G= (n.578-1G=) c.215-1G= (n.215-1G=) | |
22 | g.45293180G>T | CA411878944 | UPK3A | c.572-1G>T (n.572-1G>T) c.209-1G>T (n.209-1G>T) c.578-1G>T (n.578-1G>T) c.215-1G>T (n.215-1G>T) | |
22 | g.45293181T>A | CA411878954 | UPK3A | c.572T>A (p.Leu191His) c.209T>A (p.Val70Asp) c.578T>A (p.Leu193His) c.215T>A (p.Val72Asp) | |
22 | g.45293181T>C | CA411878950 | UPK3A | c.572T>C (p.Leu191Pro) c.209T>C (p.Val70Ala) c.578T>C (p.Leu193Pro) c.215T>C (p.Val72Ala) | gnomAD v4 |
22 | g.45293181T>G | CA411878953 | UPK3A | c.572T>G (p.Leu191Arg) c.209T>G (p.Val70Gly) c.578T>G (p.Leu193Arg) c.215T>G (p.Val72Gly) | |
22 | g.45293182C>A | CA514882663 | UPK3A | c.573C>A (p.Leu191=) c.210C>A (p.Val70=) c.579C>A (p.Leu193=) c.216C>A (p.Val72=) | |
22 | g.45293182C>G | CA514882664 | UPK3A | c.573C>G (p.Leu191=) c.210C>G (p.Val70=) c.579C>G (p.Leu193=) c.216C>G (p.Val72=) | |
22 | g.45293182C>T | CA514882665 | UPK3A | c.573C>T (p.Leu191=) c.210C>T (p.Val70=) c.579C>T (p.Leu193=) c.216C>T (p.Val72=) | |
22 | g.45293183A>C | CA411878957 | UPK3A | c.574A>C (p.Thr192Pro) c.211A>C (p.Thr71Pro) c.580A>C (p.Thr194Pro) c.217A>C (p.Thr73Pro) | |
22 | g.45293183A>G | CA411878960 | UPK3A | c.574A>G (p.Thr192Ala) c.211A>G (p.Thr71Ala) c.580A>G (p.Thr194Ala) c.217A>G (p.Thr73Ala) | |
22 | g.45293183A>T | CA411878962 | UPK3A | c.574A>T (p.Thr192Ser) c.211A>T (p.Thr71Ser) c.580A>T (p.Thr194Ser) c.217A>T (p.Thr73Ser) | |
22 | g.45293184C>A | CA411878970 | UPK3A | c.575C>A (p.Thr192Asn) c.212C>A (p.Thr71Asn) c.581C>A (p.Thr194Asn) c.218C>A (p.Thr73Asn) | |
22 | g.45293184C>G | CA411878968 | UPK3A | c.575C>G (p.Thr192Ser) c.212C>G (p.Thr71Ser) c.581C>G (p.Thr194Ser) c.218C>G (p.Thr73Ser) | |
22 | g.45293184C>T | CA411878965 | UPK3A | c.575C>T (p.Thr192Ile) c.212C>T (p.Thr71Ile) c.581C>T (p.Thr194Ile) c.218C>T (p.Thr73Ile) | gnomAD v4 |
22 | g.45293185C>A | CA514882666 | UPK3A | c.576C>A (p.Thr192=) c.213C>A (p.Thr71=) c.582C>A (p.Thr194=) c.219C>A (p.Thr73=) | |
22 | g.45293185C= | CA2408185378 | UPK3A | c.576C= (p.Thr192=) c.213C= (p.Thr71=) c.582C= (p.Thr194=) c.219C= (p.Thr73=) | |
22 | g.45293185C>G | CA514882667 | UPK3A | c.576C>G (p.Thr192=) c.213C>G (p.Thr71=) c.582C>G (p.Thr194=) c.219C>G (p.Thr73=) | dbSNP |
22 | g.45293185C>T | CA514882668 | UPK3A | c.576C>T (p.Thr192=) c.213C>T (p.Thr71=) c.582C>T (p.Thr194=) c.219C>T (p.Thr73=) | |
22 | g.45293186C>A | CA411878973 | UPK3A | c.577C>A (p.Pro193Thr) c.214C>A (p.Pro72Thr) c.583C>A (p.Pro195Thr) c.220C>A (p.Pro74Thr) | |
22 | g.45293186C>G | CA411878975 | UPK3A | c.577C>G (p.Pro193Ala) c.214C>G (p.Pro72Ala) c.583C>G (p.Pro195Ala) c.220C>G (p.Pro74Ala) | |
22 | g.45293186C>T | CA411878978 | UPK3A | c.577C>T (p.Pro193Ser) c.214C>T (p.Pro72Ser) c.583C>T (p.Pro195Ser) c.220C>T (p.Pro74Ser) | |
22 | g.45293187C>A | CA411878980 | UPK3A | c.578C>A (p.Pro193Gln) c.215C>A (p.Pro72Gln) c.584C>A (p.Pro195Gln) c.221C>A (p.Pro74Gln) | |
22 | g.45293187C= | CA2408185379 | UPK3A | c.578C= (p.Pro193=) c.215C= (p.Pro72=) c.584C= (p.Pro195=) c.221C= (p.Pro74=) | |
22 | g.45293187C>G | CA411878983 | UPK3A | c.578C>G (p.Pro193Arg) c.215C>G (p.Pro72Arg) c.584C>G (p.Pro195Arg) c.221C>G (p.Pro74Arg) | |
22 | g.45293187C>T | CA10284477 | UPK3A | c.578C>T (p.Pro193Leu) c.215C>T (p.Pro72Leu) c.584C>T (p.Pro195Leu) c.221C>T (p.Pro74Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293188A>C | CA514882669 | UPK3A | c.579A>C (p.Pro193=) c.216A>C (p.Pro72=) c.585A>C (p.Pro195=) c.222A>C (p.Pro74=) | gnomAD v4 |
22 | g.45293188A>G | CA514882670 | UPK3A | c.579A>G (p.Pro193=) c.216A>G (p.Pro72=) c.585A>G (p.Pro195=) c.222A>G (p.Pro74=) | |
22 | g.45293188A>T | CA514882671 | UPK3A | c.579A>T (p.Pro193=) c.216A>T (p.Pro72=) c.585A>T (p.Pro195=) c.222A>T (p.Pro74=) | |
22 | g.45293189T>A | CA411878993 | UPK3A | c.580T>A (p.Tyr194Asn) c.217T>A (p.Tyr73Asn) c.586T>A (p.Tyr196Asn) c.223T>A (p.Tyr75Asn) | |
22 | g.45293189T>C | CA411878989 | UPK3A | c.580T>C (p.Tyr194His) c.217T>C (p.Tyr73His) c.586T>C (p.Tyr196His) c.223T>C (p.Tyr75His) | |
22 | g.45293189T>G | CA411878991 | UPK3A | c.580T>G (p.Tyr194Asp) c.217T>G (p.Tyr73Asp) c.586T>G (p.Tyr196Asp) c.223T>G (p.Tyr75Asp) | |
22 | g.45293190A>C | CA411878995 | UPK3A | c.581A>C (p.Tyr194Ser) c.218A>C (p.Tyr73Ser) c.587A>C (p.Tyr196Ser) c.224A>C (p.Tyr75Ser) | |
22 | g.45293190A>G | CA411878998 | UPK3A | c.581A>G (p.Tyr194Cys) c.218A>G (p.Tyr73Cys) c.587A>G (p.Tyr196Cys) c.224A>G (p.Tyr75Cys) | |
22 | g.45293190A>T | CA411878999 | UPK3A | c.581A>T (p.Tyr194Phe) c.218A>T (p.Tyr73Phe) c.587A>T (p.Tyr196Phe) c.224A>T (p.Tyr75Phe) | |
22 | g.45293191C>A | CA411879003 | UPK3A | c.582C>A (p.Tyr194Ter) c.219C>A (p.Tyr73Ter) c.588C>A (p.Tyr196Ter) c.225C>A (p.Tyr75Ter) | |
22 | g.45293191C>G | CA411879006 | UPK3A | c.582C>G (p.Tyr194Ter) c.219C>G (p.Tyr73Ter) c.588C>G (p.Tyr196Ter) c.225C>G (p.Tyr75Ter) | |
22 | g.45293191C>T | CA514882673 | UPK3A | c.582C>T (p.Tyr194=) c.219C>T (p.Tyr73=) c.588C>T (p.Tyr196=) c.225C>T (p.Tyr75=) | gnomAD v4 |
22 | g.45293192T>A | CA411879007 | UPK3A | c.583T>A (p.Ser195Thr) c.220T>A (p.Ser74Thr) c.589T>A (p.Ser197Thr) c.226T>A (p.Ser76Thr) | |
22 | g.45293192T>C | CA411879008 | UPK3A | c.583T>C (p.Ser195Pro) c.220T>C (p.Ser74Pro) c.589T>C (p.Ser197Pro) c.226T>C (p.Ser76Pro) | |
22 | g.45293192T>G | CA411879009 | UPK3A | c.583T>G (p.Ser195Ala) c.220T>G (p.Ser74Ala) c.589T>G (p.Ser197Ala) c.226T>G (p.Ser76Ala) | |
22 | g.45293193C>A | CA411879011 | UPK3A | c.584C>A (p.Ser195Ter) c.221C>A (p.Ser74Ter) c.590C>A (p.Ser197Ter) c.227C>A (p.Ser76Ter) | |
22 | g.45293193C= | CA2408185380 | UPK3A | c.584C= (p.Ser195=) c.221C= (p.Ser74=) c.590C= (p.Ser197=) c.227C= (p.Ser76=) | |
22 | g.45293193C>G | CA411879012 | UPK3A | c.584C>G (p.Ser195Trp) c.221C>G (p.Ser74Trp) c.590C>G (p.Ser197Trp) c.227C>G (p.Ser76Trp) | gnomAD v4 |
22 | g.45293193C>T | CA10284478 | UPK3A | c.584C>T (p.Ser195Leu) c.221C>T (p.Ser74Leu) c.590C>T (p.Ser197Leu) c.227C>T (p.Ser76Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293194G>A | CA10284479 | UPK3A | c.585G>A (p.Ser195=) c.222G>A (p.Ser74=) c.591G>A (p.Ser197=) c.228G>A (p.Ser76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293194G>C | CA514882674 | UPK3A | c.585G>C (p.Ser195=) c.222G>C (p.Ser74=) c.591G>C (p.Ser197=) c.228G>C (p.Ser76=) | |
22 | g.45293194G= | CA2408185381 | UPK3A | c.585G= (p.Ser195=) c.222G= (p.Ser74=) c.591G= (p.Ser197=) c.228G= (p.Ser76=) | |
22 | g.45293194G>T | CA514882675 | UPK3A | c.585G>T (p.Ser195=) c.222G>T (p.Ser74=) c.591G>T (p.Ser197=) c.228G>T (p.Ser76=) | |
22 | g.45293195A>C | CA411879017 | UPK3A | c.586A>C (p.Thr196Pro) c.223A>C (p.Thr75Pro) c.592A>C (p.Thr198Pro) c.229A>C (p.Thr77Pro) | |
22 | g.45293195A>G | CA411879020 | UPK3A | c.586A>G (p.Thr196Ala) c.223A>G (p.Thr75Ala) c.592A>G (p.Thr198Ala) c.229A>G (p.Thr77Ala) | |
22 | g.45293195A>T | CA411879018 | UPK3A | c.586A>T (p.Thr196Ser) c.223A>T (p.Thr75Ser) c.592A>T (p.Thr198Ser) c.229A>T (p.Thr77Ser) | |
22 | g.45293196C>A | CA411879021 | UPK3A | c.587C>A (p.Thr196Lys) c.224C>A (p.Thr75Lys) c.593C>A (p.Thr198Lys) c.230C>A (p.Thr77Lys) | gnomAD v4 |
22 | g.45293196C= | CA2408185382 | UPK3A | c.587C= (p.Thr196=) c.224C= (p.Thr75=) c.593C= (p.Thr198=) c.230C= (p.Thr77=) | |
22 | g.45293196C>G | CA411879024 | UPK3A | c.587C>G (p.Thr196Arg) c.224C>G (p.Thr75Arg) c.593C>G (p.Thr198Arg) c.230C>G (p.Thr77Arg) | dbSNP gnomAD v4 |
22 | g.45293196C>T | CA10284480 | UPK3A | c.587C>T (p.Thr196Met) c.224C>T (p.Thr75Met) c.593C>T (p.Thr198Met) c.230C>T (p.Thr77Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293197G>A | CA10284481 | UPK3A | c.588G>A (p.Thr196=) c.225G>A (p.Thr75=) c.594G>A (p.Thr198=) c.231G>A (p.Thr77=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293197G>C | CA514882676 | UPK3A | c.588G>C (p.Thr196=) c.225G>C (p.Thr75=) c.594G>C (p.Thr198=) c.231G>C (p.Thr77=) | |
22 | g.45293197G= | CA2408185383 | UPK3A | c.588G= (p.Thr196=) c.225G= (p.Thr75=) c.594G= (p.Thr198=) c.231G= (p.Thr77=) | |
22 | g.45293197G>T | CA514882677 | UPK3A | c.588G>T (p.Thr196=) c.225G>T (p.Thr75=) c.594G>T (p.Thr198=) c.231G>T (p.Thr77=) | |
22 | g.45293198A>C | CA411879029 | UPK3A | c.589A>C (p.Ile197Leu) c.226A>C (p.Ile76Leu) c.595A>C (p.Ile199Leu) c.232A>C (p.Ile78Leu) | |
22 | g.45293198A>G | CA411879030 | UPK3A | c.589A>G (p.Ile197Val) c.226A>G (p.Ile76Val) c.595A>G (p.Ile199Val) c.232A>G (p.Ile78Val) | |
22 | g.45293198A>T | CA411879033 | UPK3A | c.589A>T (p.Ile197Phe) c.226A>T (p.Ile76Phe) c.595A>T (p.Ile199Phe) c.232A>T (p.Ile78Phe) | |
22 | g.45293198_45293199insAGAAGATAGCATCCTTAATGTGAACAGCTTT | CA2657267248 | UPK3A | c.589_590insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile197LysfsTer8) c.226_227insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile76LysfsTer8) c.595_596insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile199LysfsTer8) c.232_233insAGAAGATAGCATCCTTAATGTGAACAGCTTT (p.Ile78LysfsTer8) | gnomAD v4 |
22 | g.45293199T>A | CA411879037 | UPK3A | c.590T>A (p.Ile197Asn) c.227T>A (p.Ile76Asn) c.596T>A (p.Ile199Asn) c.233T>A (p.Ile78Asn) | |
22 | g.45293199T>C | CA411879039 | UPK3A | c.590T>C (p.Ile197Thr) c.227T>C (p.Ile76Thr) c.596T>C (p.Ile199Thr) c.233T>C (p.Ile78Thr) | |
22 | g.45293199T>G | CA411879041 | UPK3A | c.590T>G (p.Ile197Ser) c.227T>G (p.Ile76Ser) c.596T>G (p.Ile199Ser) c.233T>G (p.Ile78Ser) | |
22 | g.45293200C>A | CA514882678 | UPK3A | c.591C>A (p.Ile197=) c.228C>A (p.Ile76=) c.597C>A (p.Ile199=) c.234C>A (p.Ile78=) | dbSNP gnomAD v2 |
22 | g.45293200C= | CA2408185384 | UPK3A | c.591C= (p.Ile197=) c.228C= (p.Ile76=) c.597C= (p.Ile199=) c.234C= (p.Ile78=) | |
22 | g.45293200C>G | CA411879043 | UPK3A | c.591C>G (p.Ile197Met) c.228C>G (p.Ile76Met) c.597C>G (p.Ile199Met) c.234C>G (p.Ile78Met) | gnomAD v4 |
22 | g.45293200C>T | CA514882679 | UPK3A | c.591C>T (p.Ile197=) c.228C>T (p.Ile76=) c.597C>T (p.Ile199=) c.234C>T (p.Ile78=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293201G>A | CA411879052 | UPK3A | c.592G>A (p.Asp198Asn) c.229G>A (p.Asp77Asn) c.598G>A (p.Asp200Asn) c.235G>A (p.Asp79Asn) | dbSNP gnomAD v4 |
22 | g.45293201G>C | CA411879049 | UPK3A | c.592G>C (p.Asp198His) c.229G>C (p.Asp77His) c.598G>C (p.Asp200His) c.235G>C (p.Asp79His) | |
22 | g.45293201G= | CA2408185385 | UPK3A | c.592G= (p.Asp198=) c.229G= (p.Asp77=) c.598G= (p.Asp200=) c.235G= (p.Asp79=) | |
22 | g.45293201G>T | CA411879046 | UPK3A | c.592G>T (p.Asp198Tyr) c.229G>T (p.Asp77Tyr) c.598G>T (p.Asp200Tyr) c.235G>T (p.Asp79Tyr) | |
22 | g.45293202A>C | CA411879054 | UPK3A | c.593A>C (p.Asp198Ala) c.230A>C (p.Asp77Ala) c.599A>C (p.Asp200Ala) c.236A>C (p.Asp79Ala) | |
22 | g.45293202A>G | CA411879057 | UPK3A | c.593A>G (p.Asp198Gly) c.230A>G (p.Asp77Gly) c.599A>G (p.Asp200Gly) c.236A>G (p.Asp79Gly) | |
22 | g.45293202A>T | CA411879060 | UPK3A | c.593A>T (p.Asp198Val) c.230A>T (p.Asp77Val) c.599A>T (p.Asp200Val) c.236A>T (p.Asp79Val) | |
22 | g.45293203C>A | CA325067174 | UPK3A | c.594C>A (p.Asp198Glu) c.231C>A (p.Asp77Glu) c.600C>A (p.Asp200Glu) c.237C>A (p.Asp79Glu) | dbSNP gnomAD v4 |
22 | g.45293203C= | CA2408185386 | UPK3A | c.594C= (p.Asp198=) c.231C= (p.Asp77=) c.600C= (p.Asp200=) c.237C= (p.Asp79=) | |
22 | g.45293203C>G | CA411879064 | UPK3A | c.594C>G (p.Asp198Glu) c.231C>G (p.Asp77Glu) c.600C>G (p.Asp200Glu) c.237C>G (p.Asp79Glu) | |
22 | g.45293203C>T | CA514882680 | UPK3A | c.594C>T (p.Asp198=) c.231C>T (p.Asp77=) c.600C>T (p.Asp200=) c.237C>T (p.Asp79=) | gnomAD v4 |
22 | g.45293204A= | CA2408185387 | UPK3A | c.595A= (p.Thr199=) c.232A= (p.Thr78=) c.601A= (p.Thr201=) c.238A= (p.Thr80=) | |
22 | g.45293204A>C | CA411879067 | UPK3A | c.595A>C (p.Thr199Pro) c.232A>C (p.Thr78Pro) c.601A>C (p.Thr201Pro) c.238A>C (p.Thr80Pro) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293204A>G | CA411879070 | UPK3A | c.595A>G (p.Thr199Ala) c.232A>G (p.Thr78Ala) c.601A>G (p.Thr201Ala) c.238A>G (p.Thr80Ala) | |
22 | g.45293204A>T | CA411879072 | UPK3A | c.595A>T (p.Thr199Ser) c.232A>T (p.Thr78Ser) c.601A>T (p.Thr201Ser) c.238A>T (p.Thr80Ser) | |
22 | g.45293205C>A | CA411879074 | UPK3A | c.596C>A (p.Thr199Lys) c.233C>A (p.Thr78Lys) c.602C>A (p.Thr201Lys) c.239C>A (p.Thr80Lys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293205C= | CA2408185388 | UPK3A | c.596C= (p.Thr199=) c.233C= (p.Thr78=) c.602C= (p.Thr201=) c.239C= (p.Thr80=) | |
22 | g.45293205C>G | CA325067185 | UPK3A | c.596C>G (p.Thr199Arg) c.233C>G (p.Thr78Arg) c.602C>G (p.Thr201Arg) c.239C>G (p.Thr80Arg) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293205C>T | CA10284482 | UPK3A | c.596C>T (p.Thr199Met) c.233C>T (p.Thr78Met) c.602C>T (p.Thr201Met) c.239C>T (p.Thr80Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293206G>A | CA10284483 | UPK3A | c.597G>A (p.Thr199=) c.234G>A (p.Thr78=) c.603G>A (p.Thr201=) c.240G>A (p.Thr80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293206G>C | CA514882681 | UPK3A | c.597G>C (p.Thr199=) c.234G>C (p.Thr78=) c.603G>C (p.Thr201=) c.240G>C (p.Thr80=) | |
22 | g.45293206G= | CA2408185389 | UPK3A | c.597G= (p.Thr199=) c.234G= (p.Thr78=) c.603G= (p.Thr201=) c.240G= (p.Thr80=) | |
22 | g.45293206G>T | CA514882682 | UPK3A | c.597G>T (p.Thr199=) c.234G>T (p.Thr78=) c.603G>T (p.Thr201=) c.240G>T (p.Thr80=) | |
22 | g.45293207T>A | CA411879083 | UPK3A | c.598T>A (p.Trp200Arg) c.235T>A (p.Trp79Arg) c.604T>A (p.Trp202Arg) c.241T>A (p.Trp81Arg) | |
22 | g.45293207T>C | CA411879087 | UPK3A | c.598T>C (p.Trp200Arg) c.235T>C (p.Trp79Arg) c.604T>C (p.Trp202Arg) c.241T>C (p.Trp81Arg) | gnomAD v4 |
22 | g.45293207T>G | CA411879082 | UPK3A | c.598T>G (p.Trp200Gly) c.235T>G (p.Trp79Gly) c.604T>G (p.Trp202Gly) c.241T>G (p.Trp81Gly) | |
22 | g.45293208G>A | CA411879094 | UPK3A | c.599G>A (p.Trp200Ter) c.236G>A (p.Trp79Ter) c.605G>A (p.Trp202Ter) c.242G>A (p.Trp81Ter) | |
22 | g.45293208G>C | CA411879089 | UPK3A | c.599G>C (p.Trp200Ser) c.236G>C (p.Trp79Ser) c.605G>C (p.Trp202Ser) c.242G>C (p.Trp81Ser) | |
22 | g.45293208G>T | CA411879092 | UPK3A | c.599G>T (p.Trp200Leu) c.236G>T (p.Trp79Leu) c.605G>T (p.Trp202Leu) c.242G>T (p.Trp81Leu) | |
22 | g.45293209G>A | CA411879097 | UPK3A | c.600G>A (p.Trp200Ter) c.237G>A (p.Trp79Ter) c.606G>A (p.Trp202Ter) c.243G>A (p.Trp81Ter) | |
22 | g.45293209G>C | CA411879098 | UPK3A | c.600G>C (p.Trp200Cys) c.237G>C (p.Trp79Cys) c.606G>C (p.Trp202Cys) c.243G>C (p.Trp81Cys) | |
22 | g.45293209G>T | CA411879101 | UPK3A | c.600G>T (p.Trp200Cys) c.237G>T (p.Trp79Cys) c.606G>T (p.Trp202Cys) c.243G>T (p.Trp81Cys) | |
22 | g.45293210C>A | CA411879105 | UPK3A | c.601C>A (p.Pro201Thr) c.238C>A (p.Pro80Thr) c.607C>A (p.Pro203Thr) c.244C>A (p.Pro82Thr) | |
22 | g.45293210C>G | CA411879107 | UPK3A | c.601C>G (p.Pro201Ala) c.238C>G (p.Pro80Ala) c.607C>G (p.Pro203Ala) c.244C>G (p.Pro82Ala) | |
22 | g.45293210C>T | CA411879110 | UPK3A | c.601C>T (p.Pro201Ser) c.238C>T (p.Pro80Ser) c.607C>T (p.Pro203Ser) c.244C>T (p.Pro82Ser) | gnomAD v4 COSMIC |
22 | g.45293211C>A | CA411879113 | UPK3A | c.602C>A (p.Pro201Gln) c.239C>A (p.Pro80Gln) c.608C>A (p.Pro203Gln) c.245C>A (p.Pro82Gln) | |
22 | g.45293211C= | CA2408185391 | UPK3A | c.602C= (p.Pro201=) c.239C= (p.Pro80=) c.608C= (p.Pro203=) c.245C= (p.Pro82=) | |
22 | g.45293211C>G | CA411879115 | UPK3A | c.602C>G (p.Pro201Arg) c.239C>G (p.Pro80Arg) c.608C>G (p.Pro203Arg) c.245C>G (p.Pro82Arg) | |
22 | g.45293211C>T | CA411879117 | UPK3A | c.602C>T (p.Pro201Leu) c.239C>T (p.Pro80Leu) c.608C>T (p.Pro203Leu) c.245C>T (p.Pro82Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293211_45293213delinsCAG | CA2408185390 | UPK3A | c.602_604delinsCAG (p.Pro201=) c.239_241delinsCAG (p.Pro80=) c.608_610delinsCAG (p.Pro203=) c.245_247delinsCAG (p.Pro82=) | |
22 | g.45293212A>C | CA514882690 | UPK3A | c.603A>C (p.Pro201=) c.240A>C (p.Pro80=) c.609A>C (p.Pro203=) c.246A>C (p.Pro82=) | |
22 | g.45293212A>G | CA514882689 | UPK3A | c.603A>G (p.Pro201=) c.240A>G (p.Pro80=) c.609A>G (p.Pro203=) c.246A>G (p.Pro82=) | |
22 | g.45293212A>T | CA514882687 | UPK3A | c.603A>T (p.Pro201=) c.240A>T (p.Pro80=) c.609A>T (p.Pro203=) c.246A>T (p.Pro82=) | |
22 | g.45293212_45293213del | CA514882688 | UPK3A | c.603_604del (p.Gly202ProfsTer?) c.240_241del (p.Gly81ProfsTer?) c.609_610del (p.Gly204ProfsTer?) c.246_247del (p.Gly83ProfsTer?) | dbSNP |
22 | g.45293213G>A | CA411879128 | UPK3A | c.604G>A (p.Gly202Ser) c.241G>A (p.Gly81Ser) c.610G>A (p.Gly204Ser) c.247G>A (p.Gly83Ser) | |
22 | g.45293213G>C | CA411879125 | UPK3A | c.604G>C (p.Gly202Arg) c.241G>C (p.Gly81Arg) c.610G>C (p.Gly204Arg) c.247G>C (p.Gly83Arg) | |
22 | g.45293213G>T | CA411879120 | UPK3A | c.604G>T (p.Gly202Cys) c.241G>T (p.Gly81Cys) c.610G>T (p.Gly204Cys) c.247G>T (p.Gly83Cys) | |
22 | g.45293213_45293214del | CA411879123 | UPK3A | c.604_605del (p.Gly202ProfsTer?) c.241_242del (p.Gly81ProfsTer?) c.610_611del (p.Gly204ProfsTer?) c.247_248del (p.Gly83ProfsTer?) | |
22 | g.45293214G>A | CA114597 | UPK3A | c.605G>A (p.Gly202Asp) c.242G>A (p.Gly81Asp) c.611G>A (p.Gly204Asp) c.248G>A (p.Gly83Asp) | ClinVar dbSNP |
22 | g.45293214G>C | CA411879130 | UPK3A | c.605G>C (p.Gly202Ala) c.242G>C (p.Gly81Ala) c.611G>C (p.Gly204Ala) c.248G>C (p.Gly83Ala) | |
22 | g.45293214G= | CA2408185392 | UPK3A | c.605G= (p.Gly202=) c.242G= (p.Gly81=) c.611G= (p.Gly204=) c.248G= (p.Gly83=) | |
22 | g.45293214G>T | CA411879133 | UPK3A | c.605G>T (p.Gly202Val) c.242G>T (p.Gly81Val) c.611G>T (p.Gly204Val) c.248G>T (p.Gly83Val) | |
22 | g.45293215C>A | CA514882692 | UPK3A | c.606C>A (p.Gly202=) c.243C>A (p.Gly81=) c.612C>A (p.Gly204=) c.249C>A (p.Gly83=) | |
22 | g.45293215C= | CA2408185393 | UPK3A | c.606C= (p.Gly202=) c.243C= (p.Gly81=) c.612C= (p.Gly204=) c.249C= (p.Gly83=) | |
22 | g.45293215C>G | CA514882693 | UPK3A | c.606C>G (p.Gly202=) c.243C>G (p.Gly81=) c.612C>G (p.Gly204=) c.249C>G (p.Gly83=) | |
22 | g.45293215C>T | CA514882695 | UPK3A | c.606C>T (p.Gly202=) c.243C>T (p.Gly81=) c.612C>T (p.Gly204=) c.249C>T (p.Gly83=) | dbSNP |
22 | g.45293216C>A | CA10284485 | UPK3A | c.607C>A (p.Arg203=) c.244C>A (p.Arg82=) c.613C>A (p.Arg205=) c.250C>A (p.Arg84=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293216C= | CA2408185394 | UPK3A | c.607C= (p.Arg203=) c.244C= (p.Arg82=) c.613C= (p.Arg205=) c.250C= (p.Arg84=) | |
22 | g.45293216C>G | CA411879137 | UPK3A | c.607C>G (p.Arg203Gly) c.244C>G (p.Arg82Gly) c.613C>G (p.Arg205Gly) c.250C>G (p.Arg84Gly) | gnomAD v4 |
22 | g.45293216C>T | CA10284484 | UPK3A | c.607C>T (p.Arg203Trp) c.244C>T (p.Arg82Trp) c.613C>T (p.Arg205Trp) c.250C>T (p.Arg84Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293217G>A | CA325067272 | UPK3A | c.608G>A (p.Arg203Gln) c.245G>A (p.Arg82Gln) c.614G>A (p.Arg205Gln) c.251G>A (p.Arg84Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293217G>C | CA411879143 | UPK3A | c.608G>C (p.Arg203Pro) c.245G>C (p.Arg82Pro) c.614G>C (p.Arg205Pro) c.251G>C (p.Arg84Pro) | |
22 | g.45293217G= | CA2408185395 | UPK3A | c.608G= (p.Arg203=) c.245G= (p.Arg82=) c.614G= (p.Arg205=) c.251G= (p.Arg84=) | |
22 | g.45293217G>T | CA411879146 | UPK3A | c.608G>T (p.Arg203Leu) c.245G>T (p.Arg82Leu) c.614G>T (p.Arg205Leu) c.251G>T (p.Arg84Leu) | |
22 | g.45293218G>A | CA514882697 | UPK3A | c.609G>A (p.Arg203=) c.246G>A (p.Arg82=) c.615G>A (p.Arg205=) c.252G>A (p.Arg84=) | |
22 | g.45293218G>C | CA514882698 | UPK3A | c.609G>C (p.Arg203=) c.246G>C (p.Arg82=) c.615G>C (p.Arg205=) c.252G>C (p.Arg84=) | |
22 | g.45293218G>T | CA514882699 | UPK3A | c.609G>T (p.Arg203=) c.246G>T (p.Arg82=) c.615G>T (p.Arg205=) c.252G>T (p.Arg84=) | |
22 | g.45293219C>A | CA10284487 | UPK3A | c.610C>A (p.Arg204=) c.247C>A (p.Arg83=) c.616C>A (p.Arg206=) c.253C>A (p.Arg85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293219C= | CA2408185396 | UPK3A | c.610C= (p.Arg204=) c.247C= (p.Arg83=) c.616C= (p.Arg206=) c.253C= (p.Arg85=) | |
22 | g.45293219C>G | CA411879150 | UPK3A | c.610C>G (p.Arg204Gly) c.247C>G (p.Arg83Gly) c.616C>G (p.Arg206Gly) c.253C>G (p.Arg85Gly) | gnomAD v4 |
22 | g.45293219C>T | CA10284486 | UPK3A | c.610C>T (p.Arg204Trp) c.247C>T (p.Arg83Trp) c.616C>T (p.Arg206Trp) c.253C>T (p.Arg85Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.45293220G>A | CA10284488 | UPK3A | c.611G>A (p.Arg204Gln) c.248G>A (p.Arg83Gln) c.617G>A (p.Arg206Gln) c.254G>A (p.Arg85Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293220G>C | CA411879158 | UPK3A | c.611G>C (p.Arg204Pro) c.248G>C (p.Arg83Pro) c.617G>C (p.Arg206Pro) c.254G>C (p.Arg85Pro) | |
22 | g.45293220G= | CA2408185397 | UPK3A | c.611G= (p.Arg204=) c.248G= (p.Arg83=) c.617G= (p.Arg206=) c.254G= (p.Arg85=) | |
22 | g.45293220G>T | CA411879154 | UPK3A | c.611G>T (p.Arg204Leu) c.248G>T (p.Arg83Leu) c.617G>T (p.Arg206Leu) c.254G>T (p.Arg85Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293221G>A | CA10284489 | UPK3A | c.612G>A (p.Arg204=) c.249G>A (p.Arg83=) c.618G>A (p.Arg206=) c.255G>A (p.Arg85=) | dbSNP ExAC gnomAD v2 |
22 | g.45293221G>C | CA514882703 | UPK3A | c.612G>C (p.Arg204=) c.249G>C (p.Arg83=) c.618G>C (p.Arg206=) c.255G>C (p.Arg85=) | |
22 | g.45293221G= | CA2408185398 | UPK3A | c.612G= (p.Arg204=) c.249G= (p.Arg83=) c.618G= (p.Arg206=) c.255G= (p.Arg85=) | |
22 | g.45293221G>T | CA514882704 | UPK3A | c.612G>T (p.Arg204=) c.249G>T (p.Arg83=) c.618G>T (p.Arg206=) c.255G>T (p.Arg85=) | |
22 | g.45293222A>C | CA411879164 | UPK3A | c.613A>C (p.Ser205Arg) c.250A>C (p.Ser84Arg) c.619A>C (p.Ser207Arg) c.256A>C (p.Ser86Arg) | |
22 | g.45293222A>G | CA411879167 | UPK3A | c.613A>G (p.Ser205Gly) c.250A>G (p.Ser84Gly) c.619A>G (p.Ser207Gly) c.256A>G (p.Ser86Gly) | gnomAD v4 |
22 | g.45293222A>T | CA411879169 | UPK3A | c.613A>T (p.Ser205Cys) c.250A>T (p.Ser84Cys) c.619A>T (p.Ser207Cys) c.256A>T (p.Ser86Cys) | |
22 | g.45293223G>A | CA411879173 | UPK3A | c.614G>A (p.Ser205Asn) c.251G>A (p.Ser84Asn) c.620G>A (p.Ser207Asn) c.257G>A (p.Ser86Asn) | |
22 | g.45293223G>C | CA411879175 | UPK3A | c.614G>C (p.Ser205Thr) c.251G>C (p.Ser84Thr) c.620G>C (p.Ser207Thr) c.257G>C (p.Ser86Thr) | |
22 | g.45293223G= | CA2408185399 | UPK3A | c.614G= (p.Ser205=) c.251G= (p.Ser84=) c.620G= (p.Ser207=) c.257G= (p.Ser86=) | |
22 | g.45293223G>T | CA411879179 | UPK3A | c.614G>T (p.Ser205Ile) c.251G>T (p.Ser84Ile) c.620G>T (p.Ser207Ile) c.257G>T (p.Ser86Ile) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293223_45293251delinsGCGGAGGCATGATCGTCATCACTTCCATC | CA2408185400 | UPK3A | c.614_642delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser205=) c.251_279delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser84=) c.620_648delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser207=) c.257_285delinsGCGGAGGCATGATCGTCATCACTTCCATC (p.Ser86=) | |
22 | g.45293224C>A | CA411879182 | UPK3A | c.615C>A (p.Ser205Arg) c.252C>A (p.Ser84Arg) c.621C>A (p.Ser207Arg) c.258C>A (p.Ser86Arg) | |
22 | g.45293224C= | CA2408185402 | UPK3A | c.615C= (p.Ser205=) c.252C= (p.Ser84=) c.621C= (p.Ser207=) c.258C= (p.Ser86=) | |
22 | g.45293224C>G | CA411879184 | UPK3A | c.615C>G (p.Ser205Arg) c.252C>G (p.Ser84Arg) c.621C>G (p.Ser207Arg) c.258C>G (p.Ser86Arg) | |
22 | g.45293224C>T | CA10284490 | UPK3A | c.615C>T (p.Ser205=) c.252C>T (p.Ser84=) c.621C>T (p.Ser207=) c.258C>T (p.Ser86=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.45293224_45293231del | CA1026219332 | UPK3A | c.615_622del (p.Gly206AspfsTer?) c.252_259del (p.Gly85AspfsTer?) c.621_628del (p.Gly208AspfsTer?) c.258_265del (p.Gly87AspfsTer?) | gnomAD v3 gnomAD v4 |
22 | g.45293225_45293252del | CA2408185401 | UPK3A | c.616_643del (p.Gly206TrpfsTer?) c.253_280del (p.Gly85TrpfsTer?) c.622_649del (p.Gly208TrpfsTer?) c.259_286del (p.Gly87TrpfsTer?) | dbSNP |
22 | g.45293225G>A | CA10284491 | UPK3A | c.616G>A (p.Gly206Arg) c.253G>A (p.Gly85Arg) c.622G>A (p.Gly208Arg) c.259G>A (p.Gly87Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293225G>C | CA411879189 | UPK3A | c.616G>C (p.Gly206Arg) c.253G>C (p.Gly85Arg) c.622G>C (p.Gly208Arg) c.259G>C (p.Gly87Arg) | |
22 | g.45293225G= | CA2408185403 | UPK3A | c.616G= (p.Gly206=) c.253G= (p.Gly85=) c.622G= (p.Gly208=) c.259G= (p.Gly87=) | |
22 | g.45293225G>T | CA411879191 | UPK3A | c.616G>T (p.Gly206Ter) c.253G>T (p.Gly85Ter) c.622G>T (p.Gly208Ter) c.259G>T (p.Gly87Ter) | |
22 | g.45293226G>A | CA411879195 | UPK3A | c.617G>A (p.Gly206Glu) c.254G>A (p.Gly85Glu) c.623G>A (p.Gly208Glu) c.260G>A (p.Gly87Glu) | |
22 | g.45293226G>C | CA411879198 | UPK3A | c.617G>C (p.Gly206Ala) c.254G>C (p.Gly85Ala) c.623G>C (p.Gly208Ala) c.260G>C (p.Gly87Ala) | |
22 | g.45293226G= | CA2408185404 | UPK3A | c.617G= (p.Gly206=) c.254G= (p.Gly85=) c.623G= (p.Gly208=) c.260G= (p.Gly87=) | |
22 | g.45293226G>T | CA10284492 | UPK3A | c.617G>T (p.Gly206Val) c.254G>T (p.Gly85Val) c.623G>T (p.Gly208Val) c.260G>T (p.Gly87Val) | dbSNP ExAC gnomAD v2 |
22 | g.45293227A>C | CA514882706 | UPK3A | c.618A>C (p.Gly206=) c.255A>C (p.Gly85=) c.624A>C (p.Gly208=) c.261A>C (p.Gly87=) | |
22 | g.45293227A>G | CA514882707 | UPK3A | c.618A>G (p.Gly206=) c.255A>G (p.Gly85=) c.624A>G (p.Gly208=) c.261A>G (p.Gly87=) | gnomAD v4 |
22 | g.45293227A>T | CA514882709 | UPK3A | c.618A>T (p.Gly206=) c.255A>T (p.Gly85=) c.624A>T (p.Gly208=) c.261A>T (p.Gly87=) | |
22 | g.45293228G>A | CA411879201 | UPK3A | c.619G>A (p.Gly207Ser) c.256G>A (p.Gly86Ser) c.625G>A (p.Gly209Ser) c.262G>A (p.Gly88Ser) | gnomAD v4 |
22 | g.45293228G>C | CA411879203 | UPK3A | c.619G>C (p.Gly207Arg) c.256G>C (p.Gly86Arg) c.625G>C (p.Gly209Arg) c.262G>C (p.Gly88Arg) | |
22 | g.45293228G>T | CA411879205 | UPK3A | c.619G>T (p.Gly207Cys) c.256G>T (p.Gly86Cys) c.625G>T (p.Gly209Cys) c.262G>T (p.Gly88Cys) | |
22 | g.45293229G>A | CA325067327 | UPK3A | c.620G>A (p.Gly207Asp) c.257G>A (p.Gly86Asp) c.626G>A (p.Gly209Asp) c.263G>A (p.Gly88Asp) | dbSNP |
22 | g.45293229G>C | CA411879209 | UPK3A | c.620G>C (p.Gly207Ala) c.257G>C (p.Gly86Ala) c.626G>C (p.Gly209Ala) c.263G>C (p.Gly88Ala) | |
22 | g.45293229G= | CA2408185405 | UPK3A | c.620G= (p.Gly207=) c.257G= (p.Gly86=) c.626G= (p.Gly209=) c.263G= (p.Gly88=) | |
22 | g.45293229G>T | CA411879212 | UPK3A | c.620G>T (p.Gly207Val) c.257G>T (p.Gly86Val) c.626G>T (p.Gly209Val) c.263G>T (p.Gly88Val) | |
22 | g.45293230C>A | CA514882710 | UPK3A | c.621C>A (p.Gly207=) c.258C>A (p.Gly86=) c.627C>A (p.Gly209=) c.264C>A (p.Gly88=) | |
22 | g.45293230C>G | CA514882711 | UPK3A | c.621C>G (p.Gly207=) c.258C>G (p.Gly86=) c.627C>G (p.Gly209=) c.264C>G (p.Gly88=) | |
22 | g.45293230C>T | CA514882713 | UPK3A | c.621C>T (p.Gly207=) c.258C>T (p.Gly86=) c.627C>T (p.Gly209=) c.264C>T (p.Gly88=) | gnomAD v4 |
22 | g.45293231A= | CA2408185406 | UPK3A | c.622A= (p.Met208=) c.259A= (p.Met87=) c.628A= (p.Met210=) c.265A= (p.Met89=) | |
22 | g.45293231A>C | CA325067330 | UPK3A | c.622A>C (p.Met208Leu) c.259A>C (p.Met87Leu) c.628A>C (p.Met210Leu) c.265A>C (p.Met89Leu) | dbSNP gnomAD v4 |
22 | g.45293231A>G | CA10284493 | UPK3A | c.622A>G (p.Met208Val) c.259A>G (p.Met87Val) c.628A>G (p.Met210Val) c.265A>G (p.Met89Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293231A>T | CA411879217 | UPK3A | c.622A>T (p.Met208Leu) c.259A>T (p.Met87Leu) c.628A>T (p.Met210Leu) c.265A>T (p.Met89Leu) | |
22 | g.45293232T>A | CA411879221 | UPK3A | c.623T>A (p.Met208Lys) c.260T>A (p.Met87Lys) c.629T>A (p.Met210Lys) c.266T>A (p.Met89Lys) | |
22 | g.45293232T>C | CA411879224 | UPK3A | c.623T>C (p.Met208Thr) c.260T>C (p.Met87Thr) c.629T>C (p.Met210Thr) c.266T>C (p.Met89Thr) | dbSNP |
22 | g.45293232T>G | CA411879227 | UPK3A | c.623T>G (p.Met208Arg) c.260T>G (p.Met87Arg) c.629T>G (p.Met210Arg) c.266T>G (p.Met89Arg) | |
22 | g.45293232T= | CA2408185407 | UPK3A | c.623T= (p.Met208=) c.260T= (p.Met87=) c.629T= (p.Met210=) c.266T= (p.Met89=) | |
22 | g.45293233G>A | CA411879229 | UPK3A | c.624G>A (p.Met208Ile) c.261G>A (p.Met87Ile) c.630G>A (p.Met210Ile) c.267G>A (p.Met89Ile) | |
22 | g.45293233G>C | CA411879231 | UPK3A | c.624G>C (p.Met208Ile) c.261G>C (p.Met87Ile) c.630G>C (p.Met210Ile) c.267G>C (p.Met89Ile) | |
22 | g.45293233G>T | CA411879233 | UPK3A | c.624G>T (p.Met208Ile) c.261G>T (p.Met87Ile) c.630G>T (p.Met210Ile) c.267G>T (p.Met89Ile) | |
22 | g.45293233_45293252del | CA1026219336 | UPK3A | c.624_643del (p.Met208IlefsTer27) c.261_280del (p.Met87IlefsTer27) c.630_649del (p.Met210IlefsTer27) c.267_286del (p.Met89IlefsTer27) | gnomAD v3 gnomAD v4 |
22 | g.45293234A>C | CA411879239 | UPK3A | c.625A>C (p.Ile209Leu) c.262A>C (p.Ile88Leu) c.631A>C (p.Ile211Leu) c.268A>C (p.Ile90Leu) | |
22 | g.45293234A>G | CA411879240 | UPK3A | c.625A>G (p.Ile209Val) c.262A>G (p.Ile88Val) c.631A>G (p.Ile211Val) c.268A>G (p.Ile90Val) | |
22 | g.45293234A>T | CA411879236 | UPK3A | c.625A>T (p.Ile209Phe) c.262A>T (p.Ile88Phe) c.631A>T (p.Ile211Phe) c.268A>T (p.Ile90Phe) | gnomAD v4 |
22 | g.45293235T>A | CA411879246 | UPK3A | c.626T>A (p.Ile209Asn) c.263T>A (p.Ile88Asn) c.632T>A (p.Ile211Asn) c.269T>A (p.Ile90Asn) | |
22 | g.45293235T>C | CA411879243 | UPK3A | c.626T>C (p.Ile209Thr) c.263T>C (p.Ile88Thr) c.632T>C (p.Ile211Thr) c.269T>C (p.Ile90Thr) | gnomAD v4 |
22 | g.45293235T>G | CA411879248 | UPK3A | c.626T>G (p.Ile209Ser) c.263T>G (p.Ile88Ser) c.632T>G (p.Ile211Ser) c.269T>G (p.Ile90Ser) | |
22 | g.45293236C>A | CA514882715 | UPK3A | c.627C>A (p.Ile209=) c.264C>A (p.Ile88=) c.633C>A (p.Ile211=) c.270C>A (p.Ile90=) | |
22 | g.45293236C= | CA2408185408 | UPK3A | c.627C= (p.Ile209=) c.264C= (p.Ile88=) c.633C= (p.Ile211=) c.270C= (p.Ile90=) | |
22 | g.45293236C>G | CA10284495 | UPK3A | c.627C>G (p.Ile209Met) c.264C>G (p.Ile88Met) c.633C>G (p.Ile211Met) c.270C>G (p.Ile90Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293236C>T | CA10284494 | UPK3A | c.627C>T (p.Ile209=) c.264C>T (p.Ile88=) c.633C>T (p.Ile211=) c.270C>T (p.Ile90=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.45293237G>A | CA10284496 | UPK3A | c.628G>A (p.Val210Ile) c.265G>A (p.Val89Ile) c.634G>A (p.Val212Ile) c.271G>A (p.Val91Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293237G>C | CA411879255 | UPK3A | c.628G>C (p.Val210Leu) c.265G>C (p.Val89Leu) c.634G>C (p.Val212Leu) c.271G>C (p.Val91Leu) | |
22 | g.45293237G= | CA2408185409 | UPK3A | c.628G= (p.Val210=) c.265G= (p.Val89=) c.634G= (p.Val212=) c.271G= (p.Val91=) | |
22 | g.45293237G>T | CA411879256 | UPK3A | c.628G>T (p.Val210Phe) c.265G>T (p.Val89Phe) c.634G>T (p.Val212Phe) c.271G>T (p.Val91Phe) | gnomAD v4 |
22 | g.45293238T>A | CA411879259 | UPK3A | c.629T>A (p.Val210Asp) c.266T>A (p.Val89Asp) c.635T>A (p.Val212Asp) c.272T>A (p.Val91Asp) | |
22 | g.45293238T>C | CA10284497 | UPK3A | c.629T>C (p.Val210Ala) c.266T>C (p.Val89Ala) c.635T>C (p.Val212Ala) c.272T>C (p.Val91Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293238T>G | CA411879262 | UPK3A | c.629T>G (p.Val210Gly) c.266T>G (p.Val89Gly) c.635T>G (p.Val212Gly) c.272T>G (p.Val91Gly) | |
22 | g.45293238T= | CA2408185410 | UPK3A | c.629T= (p.Val210=) c.266T= (p.Val89=) c.635T= (p.Val212=) c.272T= (p.Val91=) | |
22 | g.45293239C>A | CA514882716 | UPK3A | c.630C>A (p.Val210=) c.267C>A (p.Val89=) c.636C>A (p.Val212=) c.273C>A (p.Val91=) | |
22 | g.45293239C= | CA2408185411 | UPK3A | c.630C= (p.Val210=) c.267C= (p.Val89=) c.636C= (p.Val212=) c.273C= (p.Val91=) | |
22 | g.45293239C>G | CA514882717 | UPK3A | c.630C>G (p.Val210=) c.267C>G (p.Val89=) c.636C>G (p.Val212=) c.273C>G (p.Val91=) | |
22 | g.45293239C>T | CA514882718 | UPK3A | c.630C>T (p.Val210=) c.267C>T (p.Val89=) c.636C>T (p.Val212=) c.273C>T (p.Val91=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293240A= | CA2408185412 | UPK3A | c.631A= (p.Ile211=) c.268A= (p.Ile90=) c.637A= (p.Ile213=) c.274A= (p.Ile92=) | |
22 | g.45293240A>C | CA411879265 | UPK3A | c.631A>C (p.Ile211Leu) c.268A>C (p.Ile90Leu) c.637A>C (p.Ile213Leu) c.274A>C (p.Ile92Leu) | dbSNP |
22 | g.45293240A>G | CA411879269 | UPK3A | c.631A>G (p.Ile211Val) c.268A>G (p.Ile90Val) c.637A>G (p.Ile213Val) c.274A>G (p.Ile92Val) | dbSNP |
22 | g.45293240A>T | CA411879267 | UPK3A | c.631A>T (p.Ile211Phe) c.268A>T (p.Ile90Phe) c.637A>T (p.Ile213Phe) c.274A>T (p.Ile92Phe) | gnomAD v4 |
22 | g.45293241T>A | CA411879272 | UPK3A | c.632T>A (p.Ile211Asn) c.269T>A (p.Ile90Asn) c.638T>A (p.Ile213Asn) c.275T>A (p.Ile92Asn) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293241T>C | CA411879275 | UPK3A | c.632T>C (p.Ile211Thr) c.269T>C (p.Ile90Thr) c.638T>C (p.Ile213Thr) c.275T>C (p.Ile92Thr) | |
22 | g.45293241T>G | CA411879277 | UPK3A | c.632T>G (p.Ile211Ser) c.269T>G (p.Ile90Ser) c.638T>G (p.Ile213Ser) c.275T>G (p.Ile92Ser) | |
22 | g.45293241T= | CA2408185413 | UPK3A | c.632T= (p.Ile211=) c.269T= (p.Ile90=) c.638T= (p.Ile213=) c.275T= (p.Ile92=) | |
22 | g.45293242C>A | CA514882719 | UPK3A | c.633C>A (p.Ile211=) c.270C>A (p.Ile90=) c.639C>A (p.Ile213=) c.276C>A (p.Ile92=) | |
22 | g.45293242C>G | CA411879280 | UPK3A | c.633C>G (p.Ile211Met) c.270C>G (p.Ile90Met) c.639C>G (p.Ile213Met) c.276C>G (p.Ile92Met) | |
22 | g.45293242C>T | CA514882720 | UPK3A | c.633C>T (p.Ile211=) c.270C>T (p.Ile90=) c.639C>T (p.Ile213=) c.276C>T (p.Ile92=) | |
22 | g.45293243A= | CA2408185414 | UPK3A | c.634A= (p.Thr212=) c.271A= (p.Thr91=) c.640A= (p.Thr214=) c.277A= (p.Thr93=) | |
22 | g.45293243A>C | CA411879283 | UPK3A | c.634A>C (p.Thr212Pro) c.271A>C (p.Thr91Pro) c.640A>C (p.Thr214Pro) c.277A>C (p.Thr93Pro) | |
22 | g.45293243A>G | CA10284498 | UPK3A | c.634A>G (p.Thr212Ala) c.271A>G (p.Thr91Ala) c.640A>G (p.Thr214Ala) c.277A>G (p.Thr93Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.45293243A>T | CA411879286 | UPK3A | c.634A>T (p.Thr212Ser) c.271A>T (p.Thr91Ser) c.640A>T (p.Thr214Ser) c.277A>T (p.Thr93Ser) | |
22 | g.45293244C>A | CA411879288 | UPK3A | c.635C>A (p.Thr212Asn) c.272C>A (p.Thr91Asn) c.641C>A (p.Thr214Asn) c.278C>A (p.Thr93Asn) | COSMIC |
22 | g.45293244C= | CA2408185415 | UPK3A | c.635C= (p.Thr212=) c.272C= (p.Thr91=) c.641C= (p.Thr214=) c.278C= (p.Thr93=) | |
22 | g.45293244C>G | CA411879291 | UPK3A | c.635C>G (p.Thr212Ser) c.272C>G (p.Thr91Ser) c.641C>G (p.Thr214Ser) c.278C>G (p.Thr93Ser) | |
22 | g.45293244C>T | CA411879294 | UPK3A | c.635C>T (p.Thr212Ile) c.272C>T (p.Thr91Ile) c.641C>T (p.Thr214Ile) c.278C>T (p.Thr93Ile) | dbSNP |
22 | g.45293245T>A | CA514882721 | UPK3A | c.636T>A (p.Thr212=) c.273T>A (p.Thr91=) c.642T>A (p.Thr214=) c.279T>A (p.Thr93=) | |
22 | g.45293245T>C | CA514882722 | UPK3A | c.636T>C (p.Thr212=) c.273T>C (p.Thr91=) c.642T>C (p.Thr214=) c.279T>C (p.Thr93=) | |
22 | g.45293245T>G | CA514882723 | UPK3A | c.636T>G (p.Thr212=) c.273T>G (p.Thr91=) c.642T>G (p.Thr214=) c.279T>G (p.Thr93=) | |
22 | g.45293246T>A | CA411879296 | UPK3A | c.637T>A (p.Ser213Thr) c.274T>A (p.Ser92Thr) c.643T>A (p.Ser215Thr) c.280T>A (p.Ser94Thr) | |
22 | g.45293246T>C | CA411879299 | UPK3A | c.637T>C (p.Ser213Pro) c.274T>C (p.Ser92Pro) c.643T>C (p.Ser215Pro) c.280T>C (p.Ser94Pro) | |
22 | g.45293246T>G | CA411879303 | UPK3A | c.637T>G (p.Ser213Ala) c.274T>G (p.Ser92Ala) c.643T>G (p.Ser215Ala) c.280T>G (p.Ser94Ala) | |
22 | g.45293247C>A | CA411879306 | UPK3A | c.638C>A (p.Ser213Tyr) c.275C>A (p.Ser92Tyr) c.644C>A (p.Ser215Tyr) c.281C>A (p.Ser94Tyr) | |
22 | g.45293247C= | CA2408185416 | UPK3A | c.638C= (p.Ser213=) c.275C= (p.Ser92=) c.644C= (p.Ser215=) c.281C= (p.Ser94=) | |
22 | g.45293247C>G | CA411879309 | UPK3A | c.638C>G (p.Ser213Cys) c.275C>G (p.Ser92Cys) c.644C>G (p.Ser215Cys) c.281C>G (p.Ser94Cys) | |
22 | g.45293247C>T | CA411879311 | UPK3A | c.638C>T (p.Ser213Phe) c.275C>T (p.Ser92Phe) c.644C>T (p.Ser215Phe) c.281C>T (p.Ser94Phe) | dbSNP gnomAD v4 |
22 | g.45293248C>A | CA514882724 | UPK3A | c.639C>A (p.Ser213=) c.276C>A (p.Ser92=) c.645C>A (p.Ser215=) c.282C>A (p.Ser94=) | |
22 | g.45293248C>G | CA514882725 | UPK3A | c.639C>G (p.Ser213=) c.276C>G (p.Ser92=) c.645C>G (p.Ser215=) c.282C>G (p.Ser94=) | |
22 | g.45293248C>T | CA514882726 | UPK3A | c.639C>T (p.Ser213=) c.276C>T (p.Ser92=) c.645C>T (p.Ser215=) c.282C>T (p.Ser94=) | |
22 | g.45293249A>C | CA411879314 | UPK3A | c.640A>C (p.Ile214Leu) c.277A>C (p.Ile93Leu) c.646A>C (p.Ile216Leu) c.283A>C (p.Ile95Leu) | |
22 | g.45293249A>G | CA411879316 | UPK3A | c.640A>G (p.Ile214Val) c.277A>G (p.Ile93Val) c.646A>G (p.Ile216Val) c.283A>G (p.Ile95Val) | gnomAD v4 |
22 | g.45293249A>T | CA411879319 | UPK3A | c.640A>T (p.Ile214Phe) c.277A>T (p.Ile93Phe) c.646A>T (p.Ile216Phe) c.283A>T (p.Ile95Phe) | |
22 | g.45293250T>A | CA411879321 | UPK3A | c.641T>A (p.Ile214Asn) c.278T>A (p.Ile93Asn) c.647T>A (p.Ile216Asn) c.284T>A (p.Ile95Asn) | |
22 | g.45293250T>C | CA411879326 | UPK3A | c.641T>C (p.Ile214Thr) c.278T>C (p.Ile93Thr) c.647T>C (p.Ile216Thr) c.284T>C (p.Ile95Thr) | |
22 | g.45293250T>G | CA411879322 | UPK3A | c.641T>G (p.Ile214Ser) c.278T>G (p.Ile93Ser) c.647T>G (p.Ile216Ser) c.284T>G (p.Ile95Ser) | |
22 | g.45293251C>A | CA514882727 | UPK3A | c.642C>A (p.Ile214=) c.279C>A (p.Ile93=) c.648C>A (p.Ile216=) c.285C>A (p.Ile95=) | |
22 | g.45293251C>G | CA411879329 | UPK3A | c.642C>G (p.Ile214Met) c.279C>G (p.Ile93Met) c.648C>G (p.Ile216Met) c.285C>G (p.Ile95Met) | |
22 | g.45293251C>T | CA514882728 | UPK3A | c.642C>T (p.Ile214=) c.279C>T (p.Ile93=) c.648C>T (p.Ile216=) c.285C>T (p.Ile95=) | |
22 | g.45293252C>A | CA411879331 | UPK3A | c.643C>A (p.Leu215Met) c.280C>A (p.Leu94Met) c.649C>A (p.Leu217Met) c.286C>A (p.Leu96Met) | |
22 | g.45293252C= | CA2408185417 | UPK3A | c.643C= (p.Leu215=) c.280C= (p.Leu94=) c.649C= (p.Leu217=) c.286C= (p.Leu96=) | |
22 | g.45293252C>G | CA411879342 | UPK3A | c.643C>G (p.Leu215Val) c.280C>G (p.Leu94Val) c.649C>G (p.Leu217Val) c.286C>G (p.Leu96Val) | |
22 | g.45293252C>T | CA514882729 | UPK3A | c.643C>T (p.Leu215=) c.280C>T (p.Leu94=) c.649C>T (p.Leu217=) c.286C>T (p.Leu96=) | dbSNP |
22 | g.45293253T>A | CA411879346 | UPK3A | c.644T>A (p.Leu215Gln) c.281T>A (p.Leu94Gln) c.650T>A (p.Leu217Gln) c.287T>A (p.Leu96Gln) | |
22 | g.45293253T>C | CA411879354 | UPK3A | c.644T>C (p.Leu215Pro) c.281T>C (p.Leu94Pro) c.650T>C (p.Leu217Pro) c.287T>C (p.Leu96Pro) | |
22 | g.45293253T>G | CA411879359 | UPK3A | c.644T>G (p.Leu215Arg) c.281T>G (p.Leu94Arg) c.650T>G (p.Leu217Arg) c.287T>G (p.Leu96Arg) | |
22 | g.45293254G>A | CA514882730 | UPK3A | c.645G>A (p.Leu215=) c.282G>A (p.Leu94=) c.651G>A (p.Leu217=) c.288G>A (p.Leu96=) | dbSNP gnomAD v4 |
22 | g.45293254G>C | CA514882731 | UPK3A | c.645G>C (p.Leu215=) c.282G>C (p.Leu94=) c.651G>C (p.Leu217=) c.288G>C (p.Leu96=) | |
22 | g.45293254G= | CA2408185418 | UPK3A | c.645G= (p.Leu215=) c.282G= (p.Leu94=) c.651G= (p.Leu217=) c.288G= (p.Leu96=) | |
22 | g.45293254G>T | CA514882732 | UPK3A | c.645G>T (p.Leu215=) c.282G>T (p.Leu94=) c.651G>T (p.Leu217=) c.288G>T (p.Leu96=) | |
22 | g.45293255G>A | CA411879362 | UPK3A | c.646G>A (p.Gly216Ser) c.283G>A (p.Gly95Ser) c.652G>A (p.Gly218Ser) c.289G>A (p.Gly97Ser) | |
22 | g.45293255G>C | CA411879364 | UPK3A | c.646G>C (p.Gly216Arg) c.283G>C (p.Gly95Arg) c.652G>C (p.Gly218Arg) c.289G>C (p.Gly97Arg) | |
22 | g.45293255G>T | CA411879366 | UPK3A | c.646G>T (p.Gly216Cys) c.283G>T (p.Gly95Cys) c.652G>T (p.Gly218Cys) c.289G>T (p.Gly97Cys) | gnomAD v4 |
22 | g.45293256G>A | CA411879370 | UPK3A | c.647G>A (p.Gly216Asp) c.284G>A (p.Gly95Asp) c.653G>A (p.Gly218Asp) c.290G>A (p.Gly97Asp) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293256G>C | CA411879372 | UPK3A | c.647G>C (p.Gly216Ala) c.284G>C (p.Gly95Ala) c.653G>C (p.Gly218Ala) c.290G>C (p.Gly97Ala) | |
22 | g.45293256G= | CA2408185419 | UPK3A | c.647G= (p.Gly216=) c.284G= (p.Gly95=) c.653G= (p.Gly218=) c.290G= (p.Gly97=) | |
22 | g.45293256G>T | CA411879373 | UPK3A | c.647G>T (p.Gly216Val) c.284G>T (p.Gly95Val) c.653G>T (p.Gly218Val) c.290G>T (p.Gly97Val) | |
22 | g.45293257C>A | CA514882733 | UPK3A | c.648C>A (p.Gly216=) c.285C>A (p.Gly95=) c.654C>A (p.Gly218=) c.291C>A (p.Gly97=) | |
22 | g.45293257C>G | CA514882734 | UPK3A | c.648C>G (p.Gly216=) c.285C>G (p.Gly95=) c.654C>G (p.Gly218=) c.291C>G (p.Gly97=) | |
22 | g.45293257C>T | CA514882735 | UPK3A | c.648C>T (p.Gly216=) c.285C>T (p.Gly95=) c.654C>T (p.Gly218=) c.291C>T (p.Gly97=) | |
22 | g.45293258T>A | CA411879379 | UPK3A | c.649T>A (p.Ser217Thr) c.286T>A (p.Ser96Thr) c.655T>A (p.Ser219Thr) c.292T>A (p.Ser98Thr) | |
22 | g.45293258T>C | CA411879375 | UPK3A | c.649T>C (p.Ser217Pro) c.286T>C (p.Ser96Pro) c.655T>C (p.Ser219Pro) c.292T>C (p.Ser98Pro) | |
22 | g.45293258T>G | CA411879376 | UPK3A | c.649T>G (p.Ser217Ala) c.286T>G (p.Ser96Ala) c.655T>G (p.Ser219Ala) c.292T>G (p.Ser98Ala) | |
22 | g.45293259C>A | CA411879382 | UPK3A | c.650C>A (p.Ser217Tyr) c.287C>A (p.Ser96Tyr) c.656C>A (p.Ser219Tyr) c.293C>A (p.Ser98Tyr) | |
22 | g.45293259C= | CA2408185420 | UPK3A | c.650C= (p.Ser217=) c.287C= (p.Ser96=) c.656C= (p.Ser219=) c.293C= (p.Ser98=) | |
22 | g.45293259C>G | CA411879385 | UPK3A | c.650C>G (p.Ser217Cys) c.287C>G (p.Ser96Cys) c.656C>G (p.Ser219Cys) c.293C>G (p.Ser98Cys) | |
22 | g.45293259C>T | CA325067372 | UPK3A | c.650C>T (p.Ser217Phe) c.287C>T (p.Ser96Phe) c.656C>T (p.Ser219Phe) c.293C>T (p.Ser98Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293260C>A | CA514882736 | UPK3A | c.651C>A (p.Ser217=) c.288C>A (p.Ser96=) c.657C>A (p.Ser219=) c.294C>A (p.Ser98=) | |
22 | g.45293260C>G | CA514882738 | UPK3A | c.651C>G (p.Ser217=) c.288C>G (p.Ser96=) c.657C>G (p.Ser219=) c.294C>G (p.Ser98=) | |
22 | g.45293260C>T | CA514882737 | UPK3A | c.651C>T (p.Ser217=) c.288C>T (p.Ser96=) c.657C>T (p.Ser219=) c.294C>T (p.Ser98=) | |
22 | g.45293261C>A | CA411879388 | UPK3A | c.652C>A (p.Leu218Met) c.289C>A (p.Leu97Met) c.658C>A (p.Leu220Met) c.295C>A (p.Leu99Met) | |
22 | g.45293261C>G | CA411879389 | UPK3A | c.652C>G (p.Leu218Val) c.289C>G (p.Leu97Val) c.658C>G (p.Leu220Val) c.295C>G (p.Leu99Val) | |
22 | g.45293261C>T | CA514882739 | UPK3A | c.652C>T (p.Leu218=) c.289C>T (p.Leu97=) c.658C>T (p.Leu220=) c.295C>T (p.Leu99=) | gnomAD v4 |
22 | g.45293262T>A | CA411879392 | UPK3A | c.653T>A (p.Leu218Gln) c.290T>A (p.Leu97Gln) c.659T>A (p.Leu220Gln) c.296T>A (p.Leu99Gln) | |
22 | g.45293262T>C | CA411879394 | UPK3A | c.653T>C (p.Leu218Pro) c.290T>C (p.Leu97Pro) c.659T>C (p.Leu220Pro) c.296T>C (p.Leu99Pro) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.45293262T>G | CA411879396 | UPK3A | c.653T>G (p.Leu218Arg) c.290T>G (p.Leu97Arg) c.659T>G (p.Leu220Arg) c.296T>G (p.Leu99Arg) | |
22 | g.45293262T= | CA2408185421 | UPK3A | c.653T= (p.Leu218=) c.290T= (p.Leu97=) c.659T= (p.Leu220=) c.296T= (p.Leu99=) | |
22 | g.45293263G>A | CA514882742 | UPK3A | c.654G>A (p.Leu218=) c.291G>A (p.Leu97=) c.660G>A (p.Leu220=) c.297G>A (p.Leu99=) | |
22 | g.45293263G>C | CA514882741 | UPK3A | c.654G>C (p.Leu218=) c.291G>C (p.Leu97=) c.660G>C (p.Leu220=) c.297G>C (p.Leu99=) | |
22 | g.45293263G>T | CA514882740 | UPK3A | c.654G>T (p.Leu218=) c.291G>T (p.Leu97=) c.660G>T (p.Leu220=) c.297G>T (p.Leu99=) | |
22 | g.45293264C>A | CA411879398 | UPK3A | c.655C>A (p.Pro219Thr) c.292C>A (p.Pro98Thr) c.661C>A (p.Pro221Thr) c.298C>A (p.Pro100Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.45293264C= | CA2408185422 | UPK3A | c.655C= (p.Pro219=) c.292C= (p.Pro98=) c.661C= (p.Pro221=) c.298C= (p.Pro100=) | |
22 | g.45293264C>G | CA411879400 | UPK3A | c.655C>G (p.Pro219Ala) c.292C>G (p.Pro98Ala) c.661C>G (p.Pro221Ala) c.298C>G (p.Pro100Ala) | |
22 | g.45293264C>T | CA411879402 | UPK3A | c.655C>T (p.Pro219Ser) c.292C>T (p.Pro98Ser) c.661C>T (p.Pro221Ser) c.298C>T (p.Pro100Ser) | dbSNP |
22 | g.45293265C>A | CA411879408 | UPK3A | c.656C>A (p.Pro219His) c.293C>A (p.Pro98His) c.662C>A (p.Pro221His) c.299C>A (p.Pro100His) | |
22 | g.45293265C= | CA2408185423 | UPK3A | c.656C= (p.Pro219=) c.293C= (p.Pro98=) c.662C= (p.Pro221=) c.299C= (p.Pro100=) | |
22 | g.45293265C>G | CA411879406 | UPK3A | c.656C>G (p.Pro219Arg) c.293C>G (p.Pro98Arg) c.662C>G (p.Pro221Arg) c.299C>G (p.Pro100Arg) | |
22 | g.45293265C>T | CA411879404 | UPK3A | c.656C>T (p.Pro219Leu) c.293C>T (p.Pro98Leu) c.662C>T (p.Pro221Leu) c.299C>T (p.Pro100Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.45293266C>A | CA514882743 | UPK3A | c.657C>A (p.Pro219=) c.294C>A (p.Pro98=) c.663C>A (p.Pro221=) c.300C>A (p.Pro100=) | |
22 | g.45293266C>G | CA514882745 | UPK3A | c.657C>G (p.Pro219=) c.294C>G (p.Pro98=) c.663C>G (p.Pro221=) c.300C>G (p.Pro100=) | |
22 | g.45293266C>T | CA514882744 | UPK3A | c.657C>T (p.Pro219=) c.294C>T (p.Pro98=) c.663C>T (p.Pro221=) c.300C>T (p.Pro100=) | |
22 | g.45293267T>A | CA411879410 | UPK3A | c.658T>A (p.Phe220Ile) c.295T>A (p.Phe99Ile) c.664T>A (p.Phe222Ile) c.301T>A (p.Phe101Ile) | |
22 | g.45293267T>C | CA411879412 | UPK3A | c.658T>C (p.Phe220Leu) c.295T>C (p.Phe99Leu) c.664T>C (p.Phe222Leu) c.301T>C (p.Phe101Leu) | dbSNP |
22 | g.45293267T>G | CA411879414 | UPK3A | c.658T>G (p.Phe220Val) c.295T>G (p.Phe99Val) c.664T>G (p.Phe222Val) c.301T>G (p.Phe101Val) | |
22 | g.45293267T= | CA2408185424 | UPK3A | c.658T= (p.Phe220=) c.295T= (p.Phe99=) c.664T= (p.Phe222=) c.301T= (p.Phe101=) | |
22 | g.45293268del | CA2657267249 | UPK3A | c.659del (p.Phe220SerfsTer?) c.296del (p.Phe99SerfsTer?) c.665del (p.Phe222SerfsTer?) c.302del (p.Phe101SerfsTer?) | gnomAD v4 |
22 | g.45293268T>A | CA411879416 | UPK3A | c.659T>A (p.Phe220Tyr) c.296T>A (p.Phe99Tyr) c.665T>A (p.Phe222Tyr) c.302T>A (p.Phe101Tyr) | gnomAD v4 |
22 | g.45293268T>C | CA411879418 | UPK3A | c.659T>C (p.Phe220Ser) c.296T>C (p.Phe99Ser) c.665T>C (p.Phe222Ser) c.302T>C (p.Phe101Ser) | gnomAD v4 |
22 | g.45293268T>G | CA411879420 | UPK3A | c.659T>G (p.Phe220Cys) c.296T>G (p.Phe99Cys) c.665T>G (p.Phe222Cys) c.302T>G (p.Phe101Cys) | |
22 | g.45293269C>A | CA411879421 | UPK3A | c.660C>A (p.Phe220Leu) c.297C>A (p.Phe99Leu) c.666C>A (p.Phe222Leu) c.303C>A (p.Phe101Leu) | |
22 | g.45293269C>G | CA411879423 | UPK3A | c.660C>G (p.Phe220Leu) c.297C>G (p.Phe99Leu) c.666C>G (p.Phe222Leu) c.303C>G (p.Phe101Leu) | |
22 | g.45293269C>T | CA514882746 | UPK3A | c.660C>T (p.Phe220=) c.297C>T (p.Phe99=) c.666C>T (p.Phe222=) c.303C>T (p.Phe101=) | gnomAD v4 COSMIC |