Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.23573383G>A | CA513685792 | IGLL1 | c.525C>T (p.Ala175=) c.*154C>T (n.*154C>T) c.528C>T (p.Ala176=) | ClinVar dbSNP |
22 | g.23573383G>C | CA513685793 | IGLL1 | c.525C>G (p.Ala175=) c.*154C>G (n.*154C>G) c.528C>G (p.Ala176=) | |
22 | g.23573383G>T | CA513685794 | IGLL1 | c.525C>A (p.Ala175=) c.*154C>A (n.*154C>A) c.528C>A (p.Ala176=) | |
22 | g.23573384G>A | CA410898568 | IGLL1 | c.524C>T (p.Ala175Val) c.*153C>T (n.*153C>T) c.527C>T (p.Ala176Val) | |
22 | g.23573384G>C | CA410898569 | IGLL1 | c.524C>G (p.Ala175Gly) c.*153C>G (n.*153C>G) c.527C>G (p.Ala176Gly) | |
22 | g.23573384G>T | CA410898570 | IGLL1 | c.524C>A (p.Ala175Asp) c.*153C>A (n.*153C>A) c.527C>A (p.Ala176Asp) | |
22 | g.23573385C>A | CA410898571 | IGLL1 | c.523G>T (p.Ala175Ser) c.*152G>T (n.*152G>T) c.526G>T (p.Ala176Ser) | |
22 | g.23573385C>G | CA410898572 | IGLL1 | c.523G>C (p.Ala175Pro) c.*152G>C (n.*152G>C) c.526G>C (p.Ala176Pro) | |
22 | g.23573385C>T | CA410898573 | IGLL1 | c.523G>A (p.Ala175Thr) c.*152G>A (n.*152G>A) c.526G>A (p.Ala176Thr) | gnomAD v4 |
22 | g.23573386C>A | CA513685795 | IGLL1 | c.522G>T (p.Ala174=) c.*151G>T (n.*151G>T) c.525G>T (p.Ala175=) | |
22 | g.23573386C= | CA2397855882 | IGLL1 | c.522G= (p.Ala174=) c.*151G= (n.*151G=) c.525G= (p.Ala175=) | |
22 | g.23573386C>G | CA513685796 | IGLL1 | c.522G>C (p.Ala174=) c.*151G>C (n.*151G>C) c.525G>C (p.Ala175=) | |
22 | g.23573386C>T | CA10143240 | IGLL1 | c.522G>A (p.Ala174=) c.*151G>A (n.*151G>A) c.525G>A (p.Ala175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573388_23573389dup | CA2577661762 | IGLL1 | c.521_522dup (p.Ala175ArgfsTer6) c.*150_*151dup (n.*150_*151dup) c.524_525dup (p.Ala176ArgfsTer6) | |
22 | g.23573387G>A | CA10143241 | IGLL1 | c.521C>T (p.Ala174Val) c.*150C>T (n.*150C>T) c.524C>T (p.Ala175Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573387G>C | CA410898574 | IGLL1 | c.521C>G (p.Ala174Gly) c.*150C>G (n.*150C>G) c.524C>G (p.Ala175Gly) | |
22 | g.23573387G= | CA2397855884 | IGLL1 | c.521C= (p.Ala174=) c.*150C= (n.*150C=) c.524C= (p.Ala175=) | |
22 | g.23573387G>T | CA10143242 | IGLL1 | c.521C>A (p.Ala174Glu) c.*150C>A (n.*150C>A) c.524C>A (p.Ala175Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.23573387delinsAT | CA2580615261 | IGLL1 | c.521delinsAT (p.Ala174AspfsTer?) c.*150delinsAT (n.*150delinsAT) c.524delinsAT (p.Ala175AspfsTer?) | ClinVar |
22 | g.23573387_23573388delinsAT | CA658799498 | IGLL1 | c.520_521delinsAT (p.Ala174Met) c.*149_*150delinsAT (n.*149_*150delinsAT) c.523_524delinsAT (p.Ala175Met) | ClinVar dbSNP |
22 | g.23573387_23573388delinsGC | CA2397855883 | IGLL1 | c.520_521delinsGC (p.Ala174=) c.*149_*150delinsGC (n.*149_*150delinsGC) c.523_524delinsGC (p.Ala175=) | |
22 | g.23573388C>A | CA10143244 | IGLL1 | c.520G>T (p.Ala174Ser) c.*149G>T (n.*149G>T) c.523G>T (p.Ala175Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573388C= | CA2397855885 | IGLL1 | c.520G= (p.Ala174=) c.*149G= (n.*149G=) c.523G= (p.Ala175=) | |
22 | g.23573388C>G | CA410898575 | IGLL1 | c.520G>C (p.Ala174Pro) c.*149G>C (n.*149G>C) c.523G>C (p.Ala175Pro) | gnomAD v4 |
22 | g.23573388C>T | CA10143243 | IGLL1 | c.520G>A (p.Ala174Thr) c.*149G>A (n.*149G>A) c.523G>A (p.Ala175Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573389G>A | CA513685797 | IGLL1 | c.519C>T (p.Tyr173=) c.*148C>T (n.*148C>T) c.522C>T (p.Tyr174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.23573389G>C | CA410898576 | IGLL1 | c.519C>G (p.Tyr173Ter) c.*148C>G (n.*148C>G) c.522C>G (p.Tyr174Ter) | gnomAD v4 |
22 | g.23573389G= | CA2397855886 | IGLL1 | c.519C= (p.Tyr173=) c.*148C= (n.*148C=) c.522C= (p.Tyr174=) | |
22 | g.23573389G>T | CA410898577 | IGLL1 | c.519C>A (p.Tyr173Ter) c.*148C>A (n.*148C>A) c.522C>A (p.Tyr174Ter) | |
22 | g.23573390T>A | CA410898578 | IGLL1 | c.518A>T (p.Tyr173Phe) c.*147A>T (n.*147A>T) c.521A>T (p.Tyr174Phe) | |
22 | g.23573390T>C | CA410898579 | IGLL1 | c.518A>G (p.Tyr173Cys) c.*147A>G (n.*147A>G) c.521A>G (p.Tyr174Cys) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573390T>G | CA410898580 | IGLL1 | c.518A>C (p.Tyr173Ser) c.*147A>C (n.*147A>C) c.521A>C (p.Tyr174Ser) | |
22 | g.23573390T= | CA2397855887 | IGLL1 | c.518A= (p.Tyr173=) c.*147A= (n.*147A=) c.521A= (p.Tyr174=) | |
22 | g.23573391A= | CA2397855888 | IGLL1 | c.517T= (p.Tyr173=) c.*146T= (n.*146T=) c.520T= (p.Tyr174=) | |
22 | g.23573391A>C | CA410898581 | IGLL1 | c.517T>G (p.Tyr173Asp) c.*146T>G (n.*146T>G) c.520T>G (p.Tyr174Asp) | |
22 | g.23573391A>G | CA410898582 | IGLL1 | c.517T>C (p.Tyr173His) c.*146T>C (n.*146T>C) c.520T>C (p.Tyr174His) | |
22 | g.23573391A>T | CA410898583 | IGLL1 | c.517T>A (p.Tyr173Asn) c.*146T>A (n.*146T>A) c.520T>A (p.Tyr174Asn) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.23573392C>A | CA410898584 | IGLL1 | c.516G>T (p.Lys172Asn) c.*145G>T (n.*145G>T) c.519G>T (p.Lys173Asn) | |
22 | g.23573392C= | CA2397855890 | IGLL1 | c.516G= (p.Lys172=) c.*145G= (n.*145G=) c.519G= (p.Lys173=) | |
22 | g.23573392C>G | CA410898585 | IGLL1 | c.516G>C (p.Lys172Asn) c.*145G>C (n.*145G>C) c.519G>C (p.Lys173Asn) | |
22 | g.23573392C>T | CA513685798 | IGLL1 | c.516G>A (p.Lys172=) c.*145G>A (n.*145G>A) c.519G>A (p.Lys173=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.23573392_23573395delinsCTTG | CA2397855889 | IGLL1 | c.513_516delinsCAAG (p.Asn171=) c.*142_*145delinsCAAG (n.*142_*145delinsCAAG) c.516_519delinsCAAG (p.Asn172=) | |
22 | g.23573393T>A | CA410898587 | IGLL1 | c.515A>T (p.Lys172Met) c.*144A>T (n.*144A>T) c.518A>T (p.Lys173Met) | |
22 | g.23573393T>C | CA410898588 | IGLL1 | c.515A>G (p.Lys172Arg) c.*144A>G (n.*144A>G) c.518A>G (p.Lys173Arg) | ClinVar |
22 | g.23573393T>G | CA410898586 | IGLL1 | c.515A>C (p.Lys172Thr) c.*144A>C (n.*144A>C) c.518A>C (p.Lys173Thr) | |
22 | g.23573399_23573401del | CA10143245 | IGLL1 | c.513_515del (p.Asn171del) c.*142_*144del (n.*142_*144del) c.516_518del (p.Asn172del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.23573394T>A | CA410898591 | IGLL1 | c.514A>T (p.Lys172Ter) c.*143A>T (n.*143A>T) c.517A>T (p.Lys173Ter) | |
22 | g.23573394T>C | CA410898589 | IGLL1 | c.514A>G (p.Lys172Glu) c.*143A>G (n.*143A>G) c.517A>G (p.Lys173Glu) | |
22 | g.23573394T>G | CA410898590 | IGLL1 | c.514A>C (p.Lys172Gln) c.*143A>C (n.*143A>C) c.517A>C (p.Lys173Gln) | |
22 | g.23573395G>A | CA513685799 | IGLL1 | c.513C>T (p.Asn171=) c.*142C>T (n.*142C>T) c.516C>T (p.Asn172=) |