Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.23573483G>A | CA124367 | IGLL1 | c.425C>T (p.Pro142Leu) c.*54C>T (n.*54C>T) c.428C>T (p.Pro143Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573483G>C | CA410898772 | IGLL1 | c.425C>G (p.Pro142Arg) c.*54C>G (n.*54C>G) c.428C>G (p.Pro143Arg) | gnomAD v4 |
22 | g.23573483G= | CA2397855945 | IGLL1 | c.425C= (p.Pro142=) c.*54C= (n.*54C=) c.428C= (p.Pro143=) | |
22 | g.23573483G>T | CA410898773 | IGLL1 | c.425C>A (p.Pro142Gln) c.*54C>A (n.*54C>A) c.428C>A (p.Pro143Gln) | |
22 | g.23573484G>A | CA410898774 | IGLL1 | c.424C>T (p.Pro142Ser) c.*53C>T (n.*53C>T) c.427C>T (p.Pro143Ser) | |
22 | g.23573484G>C | CA410898776 | IGLL1 | c.424C>G (p.Pro142Ala) c.*53C>G (n.*53C>G) c.427C>G (p.Pro143Ala) | dbSNP |
22 | g.23573484G= | CA2397855946 | IGLL1 | c.424C= (p.Pro142=) c.*53C= (n.*53C=) c.427C= (p.Pro143=) | |
22 | g.23573484G>T | CA410898775 | IGLL1 | c.424C>A (p.Pro142Thr) c.*53C>A (n.*53C>A) c.427C>A (p.Pro143Thr) | |
22 | g.23573485A= | CA2397855947 | IGLL1 | c.423T= (p.Tyr141=) c.*52T= (n.*52T=) c.426T= (p.Tyr142=) | |
22 | g.23573485A>C | CA410898777 | IGLL1 | c.423T>G (p.Tyr141Ter) c.*52T>G (n.*52T>G) c.426T>G (p.Tyr142Ter) | |
22 | g.23573485A>G | CA10143279 | IGLL1 | c.423T>C (p.Tyr141=) c.*52T>C (n.*52T>C) c.426T>C (p.Tyr142=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573485A>T | CA410898778 | IGLL1 | c.423T>A (p.Tyr141Ter) c.*52T>A (n.*52T>A) c.426T>A (p.Tyr142Ter) | |
22 | g.23573486T>A | CA410898779 | IGLL1 | c.422A>T (p.Tyr141Phe) c.*51A>T (n.*51A>T) c.425A>T (p.Tyr142Phe) | |
22 | g.23573486T>C | CA410898780 | IGLL1 | c.422A>G (p.Tyr141Cys) c.*51A>G (n.*51A>G) c.425A>G (p.Tyr142Cys) | |
22 | g.23573486T>G | CA410898781 | IGLL1 | c.422A>C (p.Tyr141Ser) c.*51A>C (n.*51A>C) c.425A>C (p.Tyr142Ser) | |
22 | g.23573486_23573487delinsTA | CA2397855948 | IGLL1 | c.421_422delinsTA (p.Tyr141=) c.*50_*51delinsTA (n.*50_*51delinsTA) c.424_425delinsTA (p.Tyr142=) | |
22 | g.23573487A>C | CA410898782 | IGLL1 | c.421T>G (p.Tyr141Asp) c.*50T>G (n.*50T>G) c.424T>G (p.Tyr142Asp) | |
22 | g.23573487A>G | CA410898783 | IGLL1 | c.421T>C (p.Tyr141His) c.*50T>C (n.*50T>C) c.424T>C (p.Tyr142His) | |
22 | g.23573487A>T | CA410898784 | IGLL1 | c.421T>A (p.Tyr141Asn) c.*50T>A (n.*50T>A) c.424T>A (p.Tyr142Asn) | |
22 | g.23573490del | CA10143280 | IGLL1 | c.421del (p.Tyr141IlefsTer5) c.*50del (n.*50del) c.424del (p.Tyr142IlefsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573488A= | CA2397855949 | IGLL1 | c.420T= (p.Phe140=) c.*49T= (n.*49T=) c.423T= (p.Phe141=) | |
22 | g.23573488A>C | CA410898785 | IGLL1 | c.420T>G (p.Phe140Leu) c.*49T>G (n.*49T>G) c.423T>G (p.Phe141Leu) | |
22 | g.23573488A>G | CA10143281 | IGLL1 | c.420T>C (p.Phe140=) c.*49T>C (n.*49T>C) c.423T>C (p.Phe141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573488A>T | CA410898786 | IGLL1 | c.420T>A (p.Phe140Leu) c.*49T>A (n.*49T>A) c.423T>A (p.Phe141Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573489A>C | CA410898788 | IGLL1 | c.419T>G (p.Phe140Cys) c.*48T>G (n.*48T>G) c.422T>G (p.Phe141Cys) | |
22 | g.23573489A>G | CA410898789 | IGLL1 | c.419T>C (p.Phe140Ser) c.*48T>C (n.*48T>C) c.422T>C (p.Phe141Ser) | |
22 | g.23573489A>T | CA410898787 | IGLL1 | c.419T>A (p.Phe140Tyr) c.*48T>A (n.*48T>A) c.422T>A (p.Phe141Tyr) | |
22 | g.23573490A= | CA2397855950 | IGLL1 | c.418T= (p.Phe140=) c.*47T= (n.*47T=) c.421T= (p.Phe141=) | |
22 | g.23573490A>C | CA410898790 | IGLL1 | c.418T>G (p.Phe140Val) c.*47T>G (n.*47T>G) c.421T>G (p.Phe141Val) | |
22 | g.23573490A>G | CA410898791 | IGLL1 | c.418T>C (p.Phe140Leu) c.*47T>C (n.*47T>C) c.421T>C (p.Phe141Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.23573490A>T | CA410898792 | IGLL1 | c.418T>A (p.Phe140Ile) c.*47T>A (n.*47T>A) c.421T>A (p.Phe141Ile) | |
22 | g.23573490_23573493delinsGTT | CA2740094790 | IGLL1 | c.415_418delinsAAC (p.Asp139AsnfsTer7) c.*44_*47delinsAAC (n.*44_*47delinsAAC) c.418_421delinsAAC (p.Asp140AsnfsTer7) | ClinVar |
22 | g.23573491G>A | CA513685896 | IGLL1 | c.417C>T (p.Asp139=) c.*46C>T (n.*46C>T) c.420C>T (p.Asp140=) | |
22 | g.23573491G>C | CA410898793 | IGLL1 | c.417C>G (p.Asp139Glu) c.*46C>G (n.*46C>G) c.420C>G (p.Asp140Glu) | |
22 | g.23573491G>T | CA410898794 | IGLL1 | c.417C>A (p.Asp139Glu) c.*46C>A (n.*46C>A) c.420C>A (p.Asp140Glu) | |
22 | g.23573492T>A | CA410898797 | IGLL1 | c.416A>T (p.Asp139Val) c.*45A>T (n.*45A>T) c.419A>T (p.Asp140Val) | |
22 | g.23573492T>C | CA410898795 | IGLL1 | c.416A>G (p.Asp139Gly) c.*45A>G (n.*45A>G) c.419A>G (p.Asp140Gly) | |
22 | g.23573492T>G | CA410898796 | IGLL1 | c.416A>C (p.Asp139Ala) c.*45A>C (n.*45A>C) c.419A>C (p.Asp140Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573492T= | CA2397855951 | IGLL1 | c.416A= (p.Asp139=) c.*45A= (n.*45A=) c.419A= (p.Asp140=) | |
22 | g.23573493C>A | CA410898798 | IGLL1 | c.415G>T (p.Asp139Tyr) c.*44G>T (n.*44G>T) c.418G>T (p.Asp140Tyr) | gnomAD v4 |
22 | g.23573493C= | CA2397855952 | IGLL1 | c.415G= (p.Asp139=) c.*44G= (n.*44G=) c.418G= (p.Asp140=) | |
22 | g.23573493C>G | CA410898799 | IGLL1 | c.415G>C (p.Asp139His) c.*44G>C (n.*44G>C) c.418G>C (p.Asp140His) | |
22 | g.23573493C>T | CA10143282 | IGLL1 | c.415G>A (p.Asp139Asn) c.*44G>A (n.*44G>A) c.418G>A (p.Asp140Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573494A>C | CA410898800 | IGLL1 | c.414T>G (p.Asn138Lys) c.*43T>G (n.*43T>G) c.417T>G (p.Asn139Lys) | |
22 | g.23573494A>G | CA513685903 | IGLL1 | c.414T>C (p.Asn138=) c.*43T>C (n.*43T>C) c.417T>C (p.Asn139=) | |
22 | g.23573494A>T | CA410898801 | IGLL1 | c.414T>A (p.Asn138Lys) c.*43T>A (n.*43T>A) c.417T>A (p.Asn139Lys) | |
22 | g.23573495T>A | CA410898802 | IGLL1 | c.413A>T (p.Asn138Ile) c.*42A>T (n.*42A>T) c.416A>T (p.Asn139Ile) | |
22 | g.23573495T>C | CA410898804 | IGLL1 | c.413A>G (p.Asn138Ser) c.*42A>G (n.*42A>G) c.416A>G (p.Asn139Ser) | ClinVar dbSNP gnomAD v4 |
22 | g.23573495T>G | CA410898803 | IGLL1 | c.413A>C (p.Asn138Thr) c.*42A>C (n.*42A>C) c.416A>C (p.Asn139Thr) | |
22 | g.23573495T= | CA2397855953 | IGLL1 | c.413A= (p.Asn138=) c.*42A= (n.*42A=) c.416A= (p.Asn139=) |