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 |
|---|---|---|---|---|---|
| 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=) | |
| 22 | g.23573395G>C | CA10143246 | IGLL1 | c.513C>G (p.Asn171Lys) c.*142C>G (n.*142C>G) c.516C>G (p.Asn172Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573395G= | CA2397855892 | IGLL1 | c.513C= (p.Asn171=) c.*142C= (n.*142C=) c.516C= (p.Asn172=) | |
| 22 | g.23573395G>T | CA410898592 | IGLL1 | c.513C>A (p.Asn171Lys) c.*142C>A (n.*142C>A) c.516C>A (p.Asn172Lys) | gnomAD v4 |
| 22 | g.23573395_23573396delinsGT | CA2397855891 | IGLL1 | c.512_513delinsAC (p.Asn171=) c.*141_*142delinsAC (n.*141_*142delinsAC) c.515_516delinsAC (p.Asn172=) | |
| 22 | g.23573396T>A | CA410898593 | IGLL1 | c.512A>T (p.Asn171Ile) c.*141A>T (n.*141A>T) c.515A>T (p.Asn172Ile) | |
| 22 | g.23573396T>C | CA10143248 | IGLL1 | c.512A>G (p.Asn171Ser) c.*141A>G (n.*141A>G) c.515A>G (p.Asn172Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573396T>G | CA410898594 | IGLL1 | c.512A>C (p.Asn171Thr) c.*141A>C (n.*141A>C) c.515A>C (p.Asn172Thr) | |
| 22 | g.23573396T= | CA2397855893 | IGLL1 | c.512A= (p.Asn171=) c.*141A= (n.*141A=) c.515A= (p.Asn172=) | |
| 22 | g.23573397del | CA10143247 | IGLL1 | c.512del (p.Asn171ThrfsTer9) c.*141del (n.*141del) c.515del (p.Asn172ThrfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573397T>A | CA410898595 | IGLL1 | c.511A>T (p.Asn171Tyr) c.*140A>T (n.*140A>T) c.514A>T (p.Asn172Tyr) | |
| 22 | g.23573397T>C | CA410898596 | IGLL1 | c.511A>G (p.Asn171Asp) c.*140A>G (n.*140A>G) c.514A>G (p.Asn172Asp) | |
| 22 | g.23573397T>G | CA410898597 | IGLL1 | c.511A>C (p.Asn171His) c.*140A>C (n.*140A>C) c.514A>C (p.Asn172His) | |
| 22 | g.23573398G>A | CA513685800 | IGLL1 | c.510C>T (p.Asn170=) c.*139C>T (n.*139C>T) c.513C>T (p.Asn171=) | |
| 22 | g.23573398G>C | CA410898598 | IGLL1 | c.510C>G (p.Asn170Lys) c.*139C>G (n.*139C>G) c.513C>G (p.Asn171Lys) | |
| 22 | g.23573398G>T | CA410898599 | IGLL1 | c.510C>A (p.Asn170Lys) c.*139C>A (n.*139C>A) c.513C>A (p.Asn171Lys) | |
| 22 | g.23573399T>A | CA410898602 | IGLL1 | c.509A>T (p.Asn170Ile) c.*138A>T (n.*138A>T) c.512A>T (p.Asn171Ile) | |
| 22 | g.23573399T>C | CA410898600 | IGLL1 | c.509A>G (p.Asn170Ser) c.*138A>G (n.*138A>G) c.512A>G (p.Asn171Ser) | |
| 22 | g.23573399T>G | CA410898601 | IGLL1 | c.509A>C (p.Asn170Thr) c.*138A>C (n.*138A>C) c.512A>C (p.Asn171Thr) | |
| 22 | g.23573400T>A | CA410898603 | IGLL1 | c.508A>T (p.Asn170Tyr) c.*137A>T (n.*137A>T) c.511A>T (p.Asn171Tyr) | |
| 22 | g.23573400T>C | CA410898604 | IGLL1 | c.508A>G (p.Asn170Asp) c.*137A>G (n.*137A>G) c.511A>G (p.Asn171Asp) | gnomAD v4 |
| 22 | g.23573400T>G | CA410898605 | IGLL1 | c.508A>C (p.Asn170His) c.*137A>C (n.*137A>C) c.511A>C (p.Asn171His) | |
| 22 | g.23573401G>A | CA10143249 | IGLL1 | c.507C>T (p.Ser169=) c.*136C>T (n.*136C>T) c.510C>T (p.Ser170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573401G>C | CA410898606 | IGLL1 | c.507C>G (p.Ser169Arg) c.*136C>G (n.*136C>G) c.510C>G (p.Ser170Arg) | |
| 22 | g.23573401G= | CA2397855894 | IGLL1 | c.507C= (p.Ser169=) c.*136C= (n.*136C=) c.510C= (p.Ser170=) | |
| 22 | g.23573401G>T | CA410898607 | IGLL1 | c.507C>A (p.Ser169Arg) c.*136C>A (n.*136C>A) c.510C>A (p.Ser170Arg) | |
| 22 | g.23573401_23573403delinsGCT | CA2397855895 | IGLL1 | c.505_507delinsAGC (p.Ser169=) c.*134_*136delinsAGC (n.*134_*136delinsAGC) c.508_510delinsAGC (p.Ser170=) | |
| 22 | g.23573402C>A | CA410898608 | IGLL1 | c.506G>T (p.Ser169Ile) c.*135G>T (n.*135G>T) c.509G>T (p.Ser170Ile) | |
| 22 | g.23573402C= | CA2397855896 | IGLL1 | c.506G= (p.Ser169=) c.*135G= (n.*135G=) c.509G= (p.Ser170=) | |
| 22 | g.23573402C>G | CA410898609 | IGLL1 | c.506G>C (p.Ser169Thr) c.*135G>C (n.*135G>C) c.509G>C (p.Ser170Thr) | |
| 22 | g.23573402C>T | CA410898610 | IGLL1 | c.506G>A (p.Ser169Asn) c.*135G>A (n.*135G>A) c.509G>A (p.Ser170Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573404_23573405del | CA1024476287 | IGLL1 | c.505_506del (p.Ser169GlnfsTer?) c.*134_*135del (n.*134_*135del) c.508_509del (p.Ser170GlnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573403T>A | CA410898611 | IGLL1 | c.505A>T (p.Ser169Cys) c.*134A>T (n.*134A>T) c.508A>T (p.Ser170Cys) | |
| 22 | g.23573403T>C | CA410898612 | IGLL1 | c.505A>G (p.Ser169Gly) c.*134A>G (n.*134A>G) c.508A>G (p.Ser170Gly) | |
| 22 | g.23573403T>G | CA410898613 | IGLL1 | c.505A>C (p.Ser169Arg) c.*134A>C (n.*134A>C) c.508A>C (p.Ser170Arg) | |
| 22 | g.23573404C>A | CA410898615 | IGLL1 | c.504G>T (p.Gln168His) c.*133G>T (n.*133G>T) c.507G>T (p.Gln169His) | |
| 22 | g.23573404C= | CA2397855897 | IGLL1 | c.504G= (p.Gln168=) c.*133G= (n.*133G=) c.507G= (p.Gln169=) | |
| 22 | g.23573404C>G | CA410898614 | IGLL1 | c.504G>C (p.Gln168His) c.*133G>C (n.*133G>C) c.507G>C (p.Gln169His) | gnomAD v4 |
| 22 | g.23573404C>T | CA10143250 | IGLL1 | c.504G>A (p.Gln168=) c.*133G>A (n.*133G>A) c.507G>A (p.Gln169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573404_23573408delinsCTGTT | CA2397855898 | IGLL1 | c.500_504delinsAACAG (p.Lys167=) c.*129_*133delinsAACAG (n.*129_*133delinsAACAG) c.503_507delinsAACAG (p.Lys168=) | |
| 22 | g.23573405T>A | CA410898616 | IGLL1 | c.503A>T (p.Gln168Leu) c.*132A>T (n.*132A>T) c.506A>T (p.Gln169Leu) | |
| 22 | g.23573405T>C | CA410898617 | IGLL1 | c.503A>G (p.Gln168Arg) c.*132A>G (n.*132A>G) c.506A>G (p.Gln169Arg) | |
| 22 | g.23573405T>G | CA410898618 | IGLL1 | c.503A>C (p.Gln168Pro) c.*132A>C (n.*132A>C) c.506A>C (p.Gln169Pro) | |
| 22 | g.23573407_23573410del | CA751804856 | IGLL1 | c.500_503del (p.Lys167ArgfsTer12) c.*129_*132del (n.*129_*132del) c.503_506del (p.Lys168ArgfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573406G>A | CA410898619 | IGLL1 | c.502C>T (p.Gln168Ter) c.*131C>T (n.*131C>T) c.505C>T (p.Gln169Ter) | gnomAD v4 |
| 22 | g.23573406G>C | CA410898620 | IGLL1 | c.502C>G (p.Gln168Glu) c.*131C>G (n.*131C>G) c.505C>G (p.Gln169Glu) | gnomAD v4 |
| 22 | g.23573406G= | CA2397855899 | IGLL1 | c.502C= (p.Gln168=) c.*131C= (n.*131C=) c.505C= (p.Gln169=) | |
| 22 | g.23573406G>T | CA410898621 | IGLL1 | c.502C>A (p.Gln168Lys) c.*131C>A (n.*131C>A) c.505C>A (p.Gln169Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573407T>A | CA410898623 | IGLL1 | c.501A>T (p.Lys167Asn) c.*130A>T (n.*130A>T) c.504A>T (p.Lys168Asn) | |
| 22 | g.23573407T>C | CA513685801 | IGLL1 | c.501A>G (p.Lys167=) c.*130A>G (n.*130A>G) c.504A>G (p.Lys168=) | |
| 22 | g.23573407T>G | CA410898622 | IGLL1 | c.501A>C (p.Lys167Asn) c.*130A>C (n.*130A>C) c.504A>C (p.Lys168Asn) | |
| 22 | g.23573408T>A | CA410898624 | IGLL1 | c.500A>T (p.Lys167Ile) c.*129A>T (n.*129A>T) c.503A>T (p.Lys168Ile) | |
| 22 | g.23573408T>C | CA322555856 | IGLL1 | c.500A>G (p.Lys167Arg) c.*129A>G (n.*129A>G) c.503A>G (p.Lys168Arg) | dbSNP |
| 22 | g.23573408T>G | CA410898625 | IGLL1 | c.500A>C (p.Lys167Thr) c.*129A>C (n.*129A>C) c.503A>C (p.Lys168Thr) | |
| 22 | g.23573408T= | CA2397855900 | IGLL1 | c.500A= (p.Lys167=) c.*129A= (n.*129A=) c.503A= (p.Lys168=) | |
| 22 | g.23573409T>A | CA410898626 | IGLL1 | c.499A>T (p.Lys167Ter) c.*128A>T (n.*128A>T) c.502A>T (p.Lys168Ter) | |
| 22 | g.23573409T>C | CA410898627 | IGLL1 | c.499A>G (p.Lys167Glu) c.*128A>G (n.*128A>G) c.502A>G (p.Lys168Glu) | |
| 22 | g.23573409T>G | CA410898628 | IGLL1 | c.499A>C (p.Lys167Gln) c.*128A>C (n.*128A>C) c.502A>C (p.Lys168Gln) | |
| 22 | g.23573410G>A | CA513685802 | IGLL1 | c.498C>T (p.Ser166=) c.*127C>T (n.*127C>T) c.501C>T (p.Ser167=) | |
| 22 | g.23573410G>C | CA513685803 | IGLL1 | c.498C>G (p.Ser166=) c.*127C>G (n.*127C>G) c.501C>G (p.Ser167=) | |
| 22 | g.23573410G>T | CA513685804 | IGLL1 | c.498C>A (p.Ser166=) c.*127C>A (n.*127C>A) c.501C>A (p.Ser167=) | |
| 22 | g.23573411G>A | CA410898629 | IGLL1 | c.497C>T (p.Ser166Phe) c.*126C>T (n.*126C>T) c.500C>T (p.Ser167Phe) | gnomAD v4 |
| 22 | g.23573411G>C | CA410898631 | IGLL1 | c.497C>G (p.Ser166Cys) c.*126C>G (n.*126C>G) c.500C>G (p.Ser167Cys) | ClinVar |
| 22 | g.23573411G>T | CA410898630 | IGLL1 | c.497C>A (p.Ser166Tyr) c.*126C>A (n.*126C>A) c.500C>A (p.Ser167Tyr) | |
| 22 | g.23573412A>C | CA410898632 | IGLL1 | c.496T>G (p.Ser166Ala) c.*125T>G (n.*125T>G) c.499T>G (p.Ser167Ala) | |
| 22 | g.23573412A>G | CA410898633 | IGLL1 | c.496T>C (p.Ser166Pro) c.*125T>C (n.*125T>C) c.499T>C (p.Ser167Pro) | |
| 22 | g.23573412A>T | CA410898634 | IGLL1 | c.496T>A (p.Ser166Thr) c.*125T>A (n.*125T>A) c.499T>A (p.Ser167Thr) | |
| 22 | g.23573413G>A | CA10143251 | IGLL1 | c.495C>T (p.Pro165=) c.*124C>T (n.*124C>T) c.498C>T (p.Pro166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.23573413G>C | CA513685806 | IGLL1 | c.495C>G (p.Pro165=) c.*124C>G (n.*124C>G) c.498C>G (p.Pro166=) | |
| 22 | g.23573413G= | CA2397855901 | IGLL1 | c.495C= (p.Pro165=) c.*124C= (n.*124C=) c.498C= (p.Pro166=) | |
| 22 | g.23573413G>T | CA513685805 | IGLL1 | c.495C>A (p.Pro165=) c.*124C>A (n.*124C>A) c.498C>A (p.Pro166=) | |
| 22 | g.23573414G>A | CA410898635 | IGLL1 | c.494C>T (p.Pro165Leu) c.*123C>T (n.*123C>T) c.497C>T (p.Pro166Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.23573414G>C | CA322555859 | IGLL1 | c.494C>G (p.Pro165Arg) c.*123C>G (n.*123C>G) c.497C>G (p.Pro166Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573414G= | CA2397855902 | IGLL1 | c.494C= (p.Pro165=) c.*123C= (n.*123C=) c.497C= (p.Pro166=) | |
| 22 | g.23573414G>T | CA410898636 | IGLL1 | c.494C>A (p.Pro165His) c.*123C>A (n.*123C>A) c.497C>A (p.Pro166His) | |
| 22 | g.23573415G>A | CA410898637 | IGLL1 | c.493C>T (p.Pro165Ser) c.*122C>T (n.*122C>T) c.496C>T (p.Pro166Ser) | |
| 22 | g.23573415G>C | CA410898638 | IGLL1 | c.493C>G (p.Pro165Ala) c.*122C>G (n.*122C>G) c.496C>G (p.Pro166Ala) | |
| 22 | g.23573415G= | CA2397855903 | IGLL1 | c.493C= (p.Pro165=) c.*122C= (n.*122C=) c.496C= (p.Pro166=) | |
| 22 | g.23573415G>T | CA410898639 | IGLL1 | c.493C>A (p.Pro165Thr) c.*122C>A (n.*122C>A) c.496C>A (p.Pro166Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573416C>A | CA513685807 | IGLL1 | c.492G>T (p.Thr164=) c.*121G>T (n.*121G>T) c.495G>T (p.Thr165=) | |
| 22 | g.23573416C= | CA2397855904 | IGLL1 | c.492G= (p.Thr164=) c.*121G= (n.*121G=) c.495G= (p.Thr165=) | |
| 22 | g.23573416C>G | CA513685808 | IGLL1 | c.492G>C (p.Thr164=) c.*121G>C (n.*121G>C) c.495G>C (p.Thr165=) | |
| 22 | g.23573416C>T | CA10143252 | IGLL1 | c.492G>A (p.Thr164=) c.*121G>A (n.*121G>A) c.495G>A (p.Thr165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573417G>A | CA10143253 | IGLL1 | c.491C>T (p.Thr164Met) c.*120C>T (n.*120C>T) c.494C>T (p.Thr165Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573417G>C | CA410898641 | IGLL1 | c.491C>G (p.Thr164Arg) c.*120C>G (n.*120C>G) c.494C>G (p.Thr165Arg) | gnomAD v4 |
| 22 | g.23573417G= | CA2397855905 | IGLL1 | c.491C= (p.Thr164=) c.*120C= (n.*120C=) c.494C= (p.Thr165=) | |
| 22 | g.23573417G>T | CA410898640 | IGLL1 | c.491C>A (p.Thr164Lys) c.*120C>A (n.*120C>A) c.494C>A (p.Thr165Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573418T>A | CA410898642 | IGLL1 | c.490A>T (p.Thr164Ser) c.*119A>T (n.*119A>T) c.493A>T (p.Thr165Ser) | |
| 22 | g.23573418T>C | CA410898644 | IGLL1 | c.490A>G (p.Thr164Ala) c.*119A>G (n.*119A>G) c.493A>G (p.Thr165Ala) | |
| 22 | g.23573418T>G | CA410898643 | IGLL1 | c.490A>C (p.Thr164Pro) c.*119A>C (n.*119A>C) c.493A>C (p.Thr165Pro) | |
| 22 | g.23573419G>A | CA513685809 | IGLL1 | c.489C>T (p.Thr163=) c.*118C>T (n.*118C>T) c.492C>T (p.Thr164=) | ClinVar |
| 22 | g.23573419G>C | CA513685810 | IGLL1 | c.489C>G (p.Thr163=) c.*118C>G (n.*118C>G) c.492C>G (p.Thr164=) | |
| 22 | g.23573419G>T | CA513685811 | IGLL1 | c.489C>A (p.Thr163=) c.*118C>A (n.*118C>A) c.492C>A (p.Thr164=) | |
| 22 | g.23573420G>A | CA410898645 | IGLL1 | c.488C>T (p.Thr163Ile) c.*117C>T (n.*117C>T) c.491C>T (p.Thr164Ile) | |
| 22 | g.23573420G>C | CA410898646 | IGLL1 | c.488C>G (p.Thr163Ser) c.*117C>G (n.*117C>G) c.491C>G (p.Thr164Ser) | |
| 22 | g.23573420G= | CA2397855906 | IGLL1 | c.488C= (p.Thr163=) c.*117C= (n.*117C=) c.491C= (p.Thr164=) | |
| 22 | g.23573420G>T | CA10143254 | IGLL1 | c.488C>A (p.Thr163Asn) c.*117C>A (n.*117C>A) c.491C>A (p.Thr164Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573421T>A | CA410898647 | IGLL1 | c.487A>T (p.Thr163Ser) c.*116A>T (n.*116A>T) c.490A>T (p.Thr164Ser) | |
| 22 | g.23573421T>C | CA410898648 | IGLL1 | c.487A>G (p.Thr163Ala) c.*116A>G (n.*116A>G) c.490A>G (p.Thr164Ala) | |
| 22 | g.23573421T>G | CA410898649 | IGLL1 | c.487A>C (p.Thr163Pro) c.*116A>C (n.*116A>C) c.490A>C (p.Thr164Pro) | |
| 22 | g.23573422C>A | CA410898650 | IGLL1 | c.486G>T (p.Met162Ile) c.*115G>T (n.*115G>T) c.489G>T (p.Met163Ile) | |
| 22 | g.23573422C= | CA2397855907 | IGLL1 | c.486G= (p.Met162=) c.*115G= (n.*115G=) c.489G= (p.Met163=) | |
| 22 | g.23573422C>G | CA10143255 | IGLL1 | c.486G>C (p.Met162Ile) c.*115G>C (n.*115G>C) c.489G>C (p.Met163Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573422C>T | CA410898651 | IGLL1 | c.486G>A (p.Met162Ile) c.*115G>A (n.*115G>A) c.489G>A (p.Met163Ile) | |
| 22 | g.23573423A= | CA2397855908 | IGLL1 | c.485T= (p.Met162=) c.*114T= (n.*114T=) c.488T= (p.Met163=) | |
| 22 | g.23573423A>C | CA410898652 | IGLL1 | c.485T>G (p.Met162Arg) c.*114T>G (n.*114T>G) c.488T>G (p.Met163Arg) | |
| 22 | g.23573423A>G | CA10143257 | IGLL1 | c.485T>C (p.Met162Thr) c.*114T>C (n.*114T>C) c.488T>C (p.Met163Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573423A>T | CA10143256 | IGLL1 | c.485T>A (p.Met162Lys) c.*114T>A (n.*114T>A) c.488T>A (p.Met163Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573424T>A | CA410898654 | IGLL1 | c.484A>T (p.Met162Leu) c.*113A>T (n.*113A>T) c.487A>T (p.Met163Leu) | |
| 22 | g.23573424T>C | CA10143258 | IGLL1 | c.484A>G (p.Met162Val) c.*113A>G (n.*113A>G) c.487A>G (p.Met163Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573424T>G | CA410898653 | IGLL1 | c.484A>C (p.Met162Leu) c.*113A>C (n.*113A>C) c.487A>C (p.Met163Leu) | |
| 22 | g.23573424T= | CA2397855909 | IGLL1 | c.484A= (p.Met162=) c.*113A= (n.*113A=) c.487A= (p.Met163=) | |
| 22 | g.23573425C>A | CA410898655 | IGLL1 | c.483G>T (p.Glu161Asp) c.*112G>T (n.*112G>T) c.486G>T (p.Glu162Asp) | |
| 22 | g.23573425C>G | CA410898656 | IGLL1 | c.483G>C (p.Glu161Asp) c.*112G>C (n.*112G>C) c.486G>C (p.Glu162Asp) | |
| 22 | g.23573425C>T | CA513685812 | IGLL1 | c.483G>A (p.Glu161=) c.*112G>A (n.*112G>A) c.486G>A (p.Glu162=) | gnomAD v4 |
| 22 | g.23573426T>A | CA410898657 | IGLL1 | c.482A>T (p.Glu161Val) c.*111A>T (n.*111A>T) c.485A>T (p.Glu162Val) | |
| 22 | g.23573426T>C | CA410898658 | IGLL1 | c.482A>G (p.Glu161Gly) c.*111A>G (n.*111A>G) c.485A>G (p.Glu162Gly) | |
| 22 | g.23573426T>G | CA410898659 | IGLL1 | c.482A>C (p.Glu161Ala) c.*111A>C (n.*111A>C) c.485A>C (p.Glu162Ala) | gnomAD v4 |
| 22 | g.23573427C>A | CA410898660 | IGLL1 | c.481G>T (p.Glu161Ter) c.*110G>T (n.*110G>T) c.484G>T (p.Glu162Ter) | |
| 22 | g.23573427C>G | CA410898661 | IGLL1 | c.481G>C (p.Glu161Gln) c.*110G>C (n.*110G>C) c.484G>C (p.Glu162Gln) | gnomAD v4 |
| 22 | g.23573427C>T | CA410898662 | IGLL1 | c.481G>A (p.Glu161Lys) c.*110G>A (n.*110G>A) c.484G>A (p.Glu162Lys) | |
| 22 | g.23573428dup | CA2655672887 | IGLL1 | c.481dup (p.Glu161GlyfsTer?) c.*110dup (n.*110dup) c.484dup (p.Glu162GlyfsTer?) | gnomAD v4 |
| 22 | g.23573428C>A | CA513685813 | IGLL1 | c.480G>T (p.Val160=) c.*109G>T (n.*109G>T) c.483G>T (p.Val161=) | |
| 22 | g.23573428C= | CA2397855910 | IGLL1 | c.480G= (p.Val160=) c.*109G= (n.*109G=) c.483G= (p.Val161=) | |
| 22 | g.23573428C>G | CA513685814 | IGLL1 | c.480G>C (p.Val160=) c.*109G>C (n.*109G>C) c.483G>C (p.Val161=) | |
| 22 | g.23573428C>T | CA513685815 | IGLL1 | c.480G>A (p.Val160=) c.*109G>A (n.*109G>A) c.483G>A (p.Val161=) | dbSNP |
| 22 | g.23573429A>C | CA410898663 | IGLL1 | c.479T>G (p.Val160Gly) c.*108T>G (n.*108T>G) c.482T>G (p.Val161Gly) | |
| 22 | g.23573429A>G | CA410898664 | IGLL1 | c.479T>C (p.Val160Ala) c.*108T>C (n.*108T>C) c.482T>C (p.Val161Ala) | |
| 22 | g.23573429A>T | CA410898665 | IGLL1 | c.479T>A (p.Val160Glu) c.*108T>A (n.*108T>A) c.482T>A (p.Val161Glu) | |
| 22 | g.23573430C>A | CA410898667 | IGLL1 | c.478G>T (p.Val160Leu) c.*107G>T (n.*107G>T) c.481G>T (p.Val161Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573430C= | CA2397855911 | IGLL1 | c.478G= (p.Val160=) c.*107G= (n.*107G=) c.481G= (p.Val161=) | |
| 22 | g.23573430C>G | CA410898666 | IGLL1 | c.478G>C (p.Val160Leu) c.*107G>C (n.*107G>C) c.481G>C (p.Val161Leu) | gnomAD v4 |
| 22 | g.23573430C>T | CA10143259 | IGLL1 | c.478G>A (p.Val160Met) c.*107G>A (n.*107G>A) c.481G>A (p.Val161Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573431G>A | CA10143260 | IGLL1 | c.477C>T (p.Gly159=) c.*106C>T (n.*106C>T) c.480C>T (p.Gly160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573431G>C | CA513685817 | IGLL1 | c.477C>G (p.Gly159=) c.*106C>G (n.*106C>G) c.480C>G (p.Gly160=) | |
| 22 | g.23573431G= | CA2397855912 | IGLL1 | c.477C= (p.Gly159=) c.*106C= (n.*106C=) c.480C= (p.Gly160=) | |
| 22 | g.23573431G>T | CA513685816 | IGLL1 | c.477C>A (p.Gly159=) c.*106C>A (n.*106C>A) c.480C>A (p.Gly160=) | gnomAD v4 |
| 22 | g.23573432C>A | CA410898668 | IGLL1 | c.476G>T (p.Gly159Val) c.*105G>T (n.*105G>T) c.479G>T (p.Gly160Val) | |
| 22 | g.23573432C>G | CA410898669 | IGLL1 | c.476G>C (p.Gly159Ala) c.*105G>C (n.*105G>C) c.479G>C (p.Gly160Ala) | gnomAD v4 |
| 22 | g.23573432C>T | CA410898670 | IGLL1 | c.476G>A (p.Gly159Asp) c.*105G>A (n.*105G>A) c.479G>A (p.Gly160Asp) | gnomAD v4 |
| 22 | g.23573433C>A | CA410898671 | IGLL1 | c.475G>T (p.Gly159Cys) c.*104G>T (n.*104G>T) c.478G>T (p.Gly160Cys) | |
| 22 | g.23573433C= | CA2397855913 | IGLL1 | c.475G= (p.Gly159=) c.*104G= (n.*104G=) c.478G= (p.Gly160=) | |
| 22 | g.23573433C>G | CA410898672 | IGLL1 | c.475G>C (p.Gly159Arg) c.*104G>C (n.*104G>C) c.478G>C (p.Gly160Arg) | |
| 22 | g.23573433C>T | CA10143261 | IGLL1 | c.475G>A (p.Gly159Ser) c.*104G>A (n.*104G>A) c.478G>A (p.Gly160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573434C>A | CA410898674 | IGLL1 | c.474G>T (p.Gln158His) c.*103G>T (n.*103G>T) c.477G>T (p.Gln159His) | gnomAD v4 |
| 22 | g.23573434C>G | CA410898673 | IGLL1 | c.474G>C (p.Gln158His) c.*103G>C (n.*103G>C) c.477G>C (p.Gln159His) | |
| 22 | g.23573434C>T | CA513685818 | IGLL1 | c.474G>A (p.Gln158=) c.*103G>A (n.*103G>A) c.477G>A (p.Gln159=) | gnomAD v4 |
| 22 | g.23573435T>A | CA410898675 | IGLL1 | c.473A>T (p.Gln158Leu) c.*102A>T (n.*102A>T) c.476A>T (p.Gln159Leu) | |
| 22 | g.23573435T>C | CA410898676 | IGLL1 | c.473A>G (p.Gln158Arg) c.*102A>G (n.*102A>G) c.476A>G (p.Gln159Arg) | |
| 22 | g.23573435T>G | CA410898677 | IGLL1 | c.473A>C (p.Gln158Pro) c.*102A>C (n.*102A>C) c.476A>C (p.Gln159Pro) | |
| 22 | g.23573436G>A | CA410898678 | IGLL1 | c.472C>T (p.Gln158Ter) c.*101C>T (n.*101C>T) c.475C>T (p.Gln159Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573436G>C | CA410898679 | IGLL1 | c.472C>G (p.Gln158Glu) c.*101C>G (n.*101C>G) c.475C>G (p.Gln159Glu) | gnomAD v4 |
| 22 | g.23573436G= | CA2397855914 | IGLL1 | c.472C= (p.Gln158=) c.*101C= (n.*101C=) c.475C= (p.Gln159=) | |
| 22 | g.23573436G>T | CA410898680 | IGLL1 | c.472C>A (p.Gln158Lys) c.*101C>A (n.*101C>A) c.475C>A (p.Gln159Lys) | |
| 22 | g.23573437G>A | CA513685820 | IGLL1 | c.471C>T (p.Thr157=) c.*100C>T (n.*100C>T) c.474C>T (p.Thr158=) | |
| 22 | g.23573437G>C | CA513685821 | IGLL1 | c.471C>G (p.Thr157=) c.*100C>G (n.*100C>G) c.474C>G (p.Thr158=) | gnomAD v4 |
| 22 | g.23573437G= | CA2397855915 | IGLL1 | c.471C= (p.Thr157=) c.*100C= (n.*100C=) c.474C= (p.Thr158=) | |
| 22 | g.23573437G>T | CA513685822 | IGLL1 | c.471C>A (p.Thr157=) c.*100C>A (n.*100C>A) c.474C>A (p.Thr158=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573438G>A | CA410898681 | IGLL1 | c.470C>T (p.Thr157Ile) c.*99C>T (n.*99C>T) c.473C>T (p.Thr158Ile) | dbSNP gnomAD v4 |
| 22 | g.23573438G>C | CA410898683 | IGLL1 | c.470C>G (p.Thr157Ser) c.*99C>G (n.*99C>G) c.473C>G (p.Thr158Ser) | |
| 22 | g.23573438G= | CA2397855916 | IGLL1 | c.470C= (p.Thr157=) c.*99C= (n.*99C=) c.473C= (p.Thr158=) | |
| 22 | g.23573438G>T | CA410898682 | IGLL1 | c.470C>A (p.Thr157Asn) c.*99C>A (n.*99C>A) c.473C>A (p.Thr158Asn) | |
| 22 | g.23573439T>A | CA410898684 | IGLL1 | c.469A>T (p.Thr157Ser) c.*98A>T (n.*98A>T) c.472A>T (p.Thr158Ser) | |
| 22 | g.23573439T>C | CA410898685 | IGLL1 | c.469A>G (p.Thr157Ala) c.*98A>G (n.*98A>G) c.472A>G (p.Thr158Ala) | |
| 22 | g.23573439T>G | CA410898686 | IGLL1 | c.469A>C (p.Thr157Pro) c.*98A>C (n.*98A>C) c.472A>C (p.Thr158Pro) | |
| 22 | g.23573440G>A | CA513685823 | IGLL1 | c.468C>T (p.Ile156=) c.*97C>T (n.*97C>T) c.471C>T (p.Ile157=) | gnomAD v4 |
| 22 | g.23573440G>C | CA410898687 | IGLL1 | c.468C>G (p.Ile156Met) c.*97C>G (n.*97C>G) c.471C>G (p.Ile157Met) | |
| 22 | g.23573440G= | CA2397855917 | IGLL1 | c.468C= (p.Ile156=) c.*97C= (n.*97C=) c.471C= (p.Ile157=) | |
| 22 | g.23573440G>T | CA10143262 | IGLL1 | c.468C>A (p.Ile156=) c.*97C>A (n.*97C>A) c.471C>A (p.Ile157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573441A>C | CA410898688 | IGLL1 | c.467T>G (p.Ile156Ser) c.*96T>G (n.*96T>G) c.470T>G (p.Ile157Ser) | |
| 22 | g.23573441A>G | CA410898689 | IGLL1 | c.467T>C (p.Ile156Thr) c.*96T>C (n.*96T>C) c.470T>C (p.Ile157Thr) | |
| 22 | g.23573441A>T | CA410898690 | IGLL1 | c.467T>A (p.Ile156Asn) c.*96T>A (n.*96T>A) c.470T>A (p.Ile157Asn) | |
| 22 | g.23573442T>A | CA410898691 | IGLL1 | c.466A>T (p.Ile156Phe) c.*95A>T (n.*95A>T) c.469A>T (p.Ile157Phe) | |
| 22 | g.23573442T>C | CA410898692 | IGLL1 | c.466A>G (p.Ile156Val) c.*95A>G (n.*95A>G) c.469A>G (p.Ile157Val) | |
| 22 | g.23573442T>G | CA410898693 | IGLL1 | c.466A>C (p.Ile156Leu) c.*95A>C (n.*95A>C) c.469A>C (p.Ile157Leu) | |
| 22 | g.23573442_23573443delinsTG | CA2397855918 | IGLL1 | c.465_466delinsCA (p.Pro155=) c.*94_*95delinsCA (n.*94_*95delinsCA) c.468_469delinsCA (p.Pro156=) | |
| 22 | g.23573443G>A | CA10143263 | IGLL1 | c.465C>T (p.Pro155=) c.*94C>T (n.*94C>T) c.468C>T (p.Pro156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573443G>C | CA513685829 | IGLL1 | c.465C>G (p.Pro155=) c.*94C>G (n.*94C>G) c.468C>G (p.Pro156=) | |
| 22 | g.23573443G= | CA2397855919 | IGLL1 | c.465C= (p.Pro155=) c.*94C= (n.*94C=) c.468C= (p.Pro156=) | |
| 22 | g.23573443G>T | CA513685830 | IGLL1 | c.465C>A (p.Pro155=) c.*94C>A (n.*94C>A) c.468C>A (p.Pro156=) | |
| 22 | g.23573447del | CA638949829 | IGLL1 | c.465del (p.Ile156SerfsTer7) c.*94del (n.*94del) c.468del (p.Ile157SerfsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573444G>A | CA10143264 | IGLL1 | c.464C>T (p.Pro155Leu) c.*93C>T (n.*93C>T) c.467C>T (p.Pro156Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573444G>C | CA410898695 | IGLL1 | c.464C>G (p.Pro155Arg) c.*93C>G (n.*93C>G) c.467C>G (p.Pro156Arg) | |
| 22 | g.23573444G= | CA2397855920 | IGLL1 | c.464C= (p.Pro155=) c.*93C= (n.*93C=) c.467C= (p.Pro156=) | |
| 22 | g.23573444G>T | CA410898694 | IGLL1 | c.464C>A (p.Pro155His) c.*93C>A (n.*93C>A) c.467C>A (p.Pro156His) | |
| 22 | g.23573445G>A | CA10143265 | IGLL1 | c.463C>T (p.Pro155Ser) c.*92C>T (n.*92C>T) c.466C>T (p.Pro156Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.23573445G>C | CA410898697 | IGLL1 | c.463C>G (p.Pro155Ala) c.*92C>G (n.*92C>G) c.466C>G (p.Pro156Ala) | |
| 22 | g.23573445G= | CA2397855921 | IGLL1 | c.463C= (p.Pro155=) c.*92C= (n.*92C=) c.466C= (p.Pro156=) | |
| 22 | g.23573445G>T | CA410898696 | IGLL1 | c.463C>A (p.Pro155Thr) c.*92C>A (n.*92C>A) c.466C>A (p.Pro156Thr) | |
| 22 | g.23573446G>A | CA513685833 | IGLL1 | c.462C>T (p.Thr154=) c.*91C>T (n.*91C>T) c.465C>T (p.Thr155=) | dbSNP |
| 22 | g.23573446G>C | CA513685835 | IGLL1 | c.462C>G (p.Thr154=) c.*91C>G (n.*91C>G) c.465C>G (p.Thr155=) | dbSNP |
| 22 | g.23573446G= | CA2397855922 | IGLL1 | c.462C= (p.Thr154=) c.*91C= (n.*91C=) c.465C= (p.Thr155=) | |
| 22 | g.23573446G>T | CA513685836 | IGLL1 | c.462C>A (p.Thr154=) c.*91C>A (n.*91C>A) c.465C>A (p.Thr155=) | |
| 22 | g.23573447G>A | CA410898698 | IGLL1 | c.461C>T (p.Thr154Ile) c.*90C>T (n.*90C>T) c.464C>T (p.Thr155Ile) | |
| 22 | g.23573447G>C | CA410898699 | IGLL1 | c.461C>G (p.Thr154Ser) c.*90C>G (n.*90C>G) c.464C>G (p.Thr155Ser) | gnomAD v4 |
| 22 | g.23573447G= | CA2397855923 | IGLL1 | c.461C= (p.Thr154=) c.*90C= (n.*90C=) c.464C= (p.Thr155=) | |
| 22 | g.23573447G>T | CA10143266 | IGLL1 | c.461C>A (p.Thr154Asn) c.*90C>A (n.*90C>A) c.464C>A (p.Thr155Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573448T>A | CA410898700 | IGLL1 | c.460A>T (p.Thr154Ser) c.*89A>T (n.*89A>T) c.463A>T (p.Thr155Ser) | ClinVar dbSNP gnomAD v4 |
| 22 | g.23573448T>C | CA410898701 | IGLL1 | c.460A>G (p.Thr154Ala) c.*89A>G (n.*89A>G) c.463A>G (p.Thr155Ala) | |
| 22 | g.23573448T>G | CA410898702 | IGLL1 | c.460A>C (p.Thr154Pro) c.*89A>C (n.*89A>C) c.463A>C (p.Thr155Pro) | |
| 22 | g.23573448T= | CA2397855924 | IGLL1 | c.460A= (p.Thr154=) c.*89A= (n.*89A=) c.463A= (p.Thr155=) | |
| 22 | g.23573449A= | CA2397855925 | IGLL1 | c.459T= (p.Gly153=) c.*88T= (n.*88T=) c.462T= (p.Gly154=) | |
| 22 | g.23573449A>C | CA513685839 | IGLL1 | c.459T>G (p.Gly153=) c.*88T>G (n.*88T>G) c.462T>G (p.Gly154=) | |
| 22 | g.23573449A>G | CA513685840 | IGLL1 | c.459T>C (p.Gly153=) c.*88T>C (n.*88T>C) c.462T>C (p.Gly154=) | |
| 22 | g.23573449A>T | CA513685842 | IGLL1 | c.459T>A (p.Gly153=) c.*88T>A (n.*88T>A) c.462T>A (p.Gly154=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573450C>A | CA10143267 | IGLL1 | c.458G>T (p.Gly153Val) c.*87G>T (n.*87G>T) c.461G>T (p.Gly154Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.23573450C= | CA2397855926 | IGLL1 | c.458G= (p.Gly153=) c.*87G= (n.*87G=) c.461G= (p.Gly154=) | |
| 22 | g.23573450C>G | CA410898703 | IGLL1 | c.458G>C (p.Gly153Ala) c.*87G>C (n.*87G>C) c.461G>C (p.Gly154Ala) | |
| 22 | g.23573450C>T | CA410898704 | IGLL1 | c.458G>A (p.Gly153Asp) c.*87G>A (n.*87G>A) c.461G>A (p.Gly154Asp) | |
| 22 | g.23573451C>A | CA410898705 | IGLL1 | c.457G>T (p.Gly153Cys) c.*86G>T (n.*86G>T) c.460G>T (p.Gly154Cys) | |
| 22 | g.23573451C= | CA2397855927 | IGLL1 | c.457G= (p.Gly153=) c.*86G= (n.*86G=) c.460G= (p.Gly154=) | |
| 22 | g.23573451C>G | CA410898706 | IGLL1 | c.457G>C (p.Gly153Arg) c.*86G>C (n.*86G>C) c.460G>C (p.Gly154Arg) | |
| 22 | g.23573451C>T | CA410898707 | IGLL1 | c.457G>A (p.Gly153Ser) c.*86G>A (n.*86G>A) c.460G>A (p.Gly154Ser) | dbSNP gnomAD v4 COSMIC |
| 22 | g.23573452A>C | CA410898708 | IGLL1 | c.456T>G (p.Asp152Glu) c.*85T>G (n.*85T>G) c.459T>G (p.Asp153Glu) | |
| 22 | g.23573452A>G | CA513685845 | IGLL1 | c.456T>C (p.Asp152=) c.*85T>C (n.*85T>C) c.459T>C (p.Asp153=) | |
| 22 | g.23573452A>T | CA410898709 | IGLL1 | c.456T>A (p.Asp152Glu) c.*85T>A (n.*85T>A) c.459T>A (p.Asp153Glu) | |
| 22 | g.23573453T>A | CA322555886 | IGLL1 | c.455A>T (p.Asp152Val) c.*84A>T (n.*84A>T) c.458A>T (p.Asp153Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.23573453T>C | CA410898710 | IGLL1 | c.455A>G (p.Asp152Gly) c.*84A>G (n.*84A>G) c.458A>G (p.Asp153Gly) | gnomAD v4 |
| 22 | g.23573453T>G | CA410898711 | IGLL1 | c.455A>C (p.Asp152Ala) c.*84A>C (n.*84A>C) c.458A>C (p.Asp153Ala) | |
| 22 | g.23573453T= | CA2397855928 | IGLL1 | c.455A= (p.Asp152=) c.*84A= (n.*84A=) c.458A= (p.Asp153=) | |
| 22 | g.23573454C>A | CA410898712 | IGLL1 | c.454G>T (p.Asp152Tyr) c.*83G>T (n.*83G>T) c.457G>T (p.Asp153Tyr) | gnomAD v4 |
| 22 | g.23573454C= | CA2397855929 | IGLL1 | c.454G= (p.Asp152=) c.*83G= (n.*83G=) c.457G= (p.Asp153=) | |
| 22 | g.23573454C>G | CA410898713 | IGLL1 | c.454G>C (p.Asp152His) c.*83G>C (n.*83G>C) c.457G>C (p.Asp153His) | |
| 22 | g.23573454C>T | CA10143268 | IGLL1 | c.454G>A (p.Asp152Asn) c.*83G>A (n.*83G>A) c.457G>A (p.Asp153Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573455T>A | CA513685849 | IGLL1 | c.453A>T (p.Ala151=) c.*82A>T (n.*82A>T) c.456A>T (p.Ala152=) | |
| 22 | g.23573455T>C | CA513685850 | IGLL1 | c.453A>G (p.Ala151=) c.*82A>G (n.*82A>G) c.456A>G (p.Ala152=) | |
| 22 | g.23573455T>G | CA10143269 | IGLL1 | c.453A>C (p.Ala151=) c.*82A>C (n.*82A>C) c.456A>C (p.Ala152=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573455T= | CA2397855930 | IGLL1 | c.453A= (p.Ala151=) c.*82A= (n.*82A=) c.456A= (p.Ala152=) | |
| 22 | g.23573456G>A | CA10143270 | IGLL1 | c.452C>T (p.Ala151Val) c.*81C>T (n.*81C>T) c.455C>T (p.Ala152Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573456G>C | CA410898714 | IGLL1 | c.452C>G (p.Ala151Gly) c.*81C>G (n.*81C>G) c.455C>G (p.Ala152Gly) | |
| 22 | g.23573456G= | CA2397855931 | IGLL1 | c.452C= (p.Ala151=) c.*81C= (n.*81C=) c.455C= (p.Ala152=) | |
| 22 | g.23573456G>T | CA410898715 | IGLL1 | c.452C>A (p.Ala151Glu) c.*81C>A (n.*81C>A) c.455C>A (p.Ala152Glu) | |
| 22 | g.23573457C>A | CA410898717 | IGLL1 | c.451G>T (p.Ala151Ser) c.*80G>T (n.*80G>T) c.454G>T (p.Ala152Ser) | |
| 22 | g.23573457C>G | CA410898718 | IGLL1 | c.451G>C (p.Ala151Pro) c.*80G>C (n.*80G>C) c.454G>C (p.Ala152Pro) | |
| 22 | g.23573457C>T | CA410898716 | IGLL1 | c.451G>A (p.Ala151Thr) c.*80G>A (n.*80G>A) c.454G>A (p.Ala152Thr) | |
| 22 | g.23573458C>A | CA410898719 | IGLL1 | c.450G>T (p.Lys150Asn) c.*79G>T (n.*79G>T) c.453G>T (p.Lys151Asn) | |
| 22 | g.23573458C>G | CA410898720 | IGLL1 | c.450G>C (p.Lys150Asn) c.*79G>C (n.*79G>C) c.453G>C (p.Lys151Asn) | |
| 22 | g.23573458C>T | CA513685853 | IGLL1 | c.450G>A (p.Lys150=) c.*79G>A (n.*79G>A) c.453G>A (p.Lys151=) | gnomAD v4 |
| 22 | g.23573459T>A | CA410898721 | IGLL1 | c.449A>T (p.Lys150Met) c.*78A>T (n.*78A>T) c.452A>T (p.Lys151Met) | |
| 22 | g.23573459T>C | CA410898722 | IGLL1 | c.449A>G (p.Lys150Arg) c.*78A>G (n.*78A>G) c.452A>G (p.Lys151Arg) | |
| 22 | g.23573459T>G | CA410898723 | IGLL1 | c.449A>C (p.Lys150Thr) c.*78A>C (n.*78A>C) c.452A>C (p.Lys151Thr) | |
| 22 | g.23573460T>A | CA410898726 | IGLL1 | c.448A>T (p.Lys150Ter) c.*77A>T (n.*77A>T) c.451A>T (p.Lys151Ter) | |
| 22 | g.23573460T>C | CA410898725 | IGLL1 | c.448A>G (p.Lys150Glu) c.*77A>G (n.*77A>G) c.451A>G (p.Lys151Glu) | |
| 22 | g.23573460T>G | CA410898724 | IGLL1 | c.448A>C (p.Lys150Gln) c.*77A>C (n.*77A>C) c.451A>C (p.Lys151Gln) | |
| 22 | g.23573461C>A | CA410898727 | IGLL1 | c.447G>T (p.Trp149Cys) c.*76G>T (n.*76G>T) c.450G>T (p.Trp150Cys) | |
| 22 | g.23573461C>G | CA410898728 | IGLL1 | c.447G>C (p.Trp149Cys) c.*76G>C (n.*76G>C) c.450G>C (p.Trp150Cys) | |
| 22 | g.23573461C>T | CA410898729 | IGLL1 | c.447G>A (p.Trp149Ter) c.*76G>A (n.*76G>A) c.450G>A (p.Trp150Ter) | gnomAD v4 COSMIC |
| 22 | g.23573462C>A | CA410898730 | IGLL1 | c.446G>T (p.Trp149Leu) c.*75G>T (n.*75G>T) c.449G>T (p.Trp150Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573462C= | CA2397855932 | IGLL1 | c.446G= (p.Trp149=) c.*75G= (n.*75G=) c.449G= (p.Trp150=) | |
| 22 | g.23573462C>G | CA410898731 | IGLL1 | c.446G>C (p.Trp149Ser) c.*75G>C (n.*75G>C) c.449G>C (p.Trp150Ser) | gnomAD v4 |
| 22 | g.23573462C>T | CA410898732 | IGLL1 | c.446G>A (p.Trp149Ter) c.*75G>A (n.*75G>A) c.449G>A (p.Trp150Ter) | |
| 22 | g.23573463A>C | CA410898733 | IGLL1 | c.445T>G (p.Trp149Gly) c.*74T>G (n.*74T>G) c.448T>G (p.Trp150Gly) | |
| 22 | g.23573463A>G | CA410898735 | IGLL1 | c.445T>C (p.Trp149Arg) c.*74T>C (n.*74T>C) c.448T>C (p.Trp150Arg) | |
| 22 | g.23573463A>T | CA410898734 | IGLL1 | c.445T>A (p.Trp149Arg) c.*74T>A (n.*74T>A) c.448T>A (p.Trp150Arg) | |
| 22 | g.23573464G>A | CA322555894 | IGLL1 | c.444C>T (p.Thr148=) c.*73C>T (n.*73C>T) c.447C>T (p.Thr149=) | dbSNP |
| 22 | g.23573464G>C | CA513685858 | IGLL1 | c.444C>G (p.Thr148=) c.*73C>G (n.*73C>G) c.447C>G (p.Thr149=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573464G= | CA2397855933 | IGLL1 | c.444C= (p.Thr148=) c.*73C= (n.*73C=) c.447C= (p.Thr149=) | |
| 22 | g.23573464G>T | CA10143271 | IGLL1 | c.444C>A (p.Thr148=) c.*73C>A (n.*73C>A) c.447C>A (p.Thr149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573465G>A | CA10143272 | IGLL1 | c.443C>T (p.Thr148Ile) c.*72C>T (n.*72C>T) c.446C>T (p.Thr149Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573465G>C | CA410898736 | IGLL1 | c.443C>G (p.Thr148Ser) c.*72C>G (n.*72C>G) c.446C>G (p.Thr149Ser) | |
| 22 | g.23573465G= | CA2397855934 | IGLL1 | c.443C= (p.Thr148=) c.*72C= (n.*72C=) c.446C= (p.Thr149=) | |
| 22 | g.23573465G>T | CA410898737 | IGLL1 | c.443C>A (p.Thr148Asn) c.*72C>A (n.*72C>A) c.446C>A (p.Thr149Asn) | |
| 22 | g.23573466T>A | CA410898738 | IGLL1 | c.442A>T (p.Thr148Ser) c.*71A>T (n.*71A>T) c.445A>T (p.Thr149Ser) | |
| 22 | g.23573466T>C | CA410898739 | IGLL1 | c.442A>G (p.Thr148Ala) c.*71A>G (n.*71A>G) c.445A>G (p.Thr149Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573466T>G | CA410898740 | IGLL1 | c.442A>C (p.Thr148Pro) c.*71A>C (n.*71A>C) c.445A>C (p.Thr149Pro) | |
| 22 | g.23573466T= | CA2397855935 | IGLL1 | c.442A= (p.Thr148=) c.*71A= (n.*71A=) c.445A= (p.Thr149=) | |
| 22 | g.23573467C>A | CA513685864 | IGLL1 | c.441G>T (p.Val147=) c.*70G>T (n.*70G>T) c.444G>T (p.Val148=) | |
| 22 | g.23573467C>G | CA513685863 | IGLL1 | c.441G>C (p.Val147=) c.*70G>C (n.*70G>C) c.444G>C (p.Val148=) | |
| 22 | g.23573467C>T | CA513685862 | IGLL1 | c.441G>A (p.Val147=) c.*70G>A (n.*70G>A) c.444G>A (p.Val148=) | |
| 22 | g.23573468A>C | CA410898741 | IGLL1 | c.440T>G (p.Val147Gly) c.*69T>G (n.*69T>G) c.443T>G (p.Val148Gly) | |
| 22 | g.23573468A>G | CA410898742 | IGLL1 | c.440T>C (p.Val147Ala) c.*69T>C (n.*69T>C) c.443T>C (p.Val148Ala) | |
| 22 | g.23573468A>T | CA410898743 | IGLL1 | c.440T>A (p.Val147Glu) c.*69T>A (n.*69T>A) c.443T>A (p.Val148Glu) | |
| 22 | g.23573469C>A | CA410898746 | IGLL1 | c.439G>T (p.Val147Leu) c.*68G>T (n.*68G>T) c.442G>T (p.Val148Leu) | |
| 22 | g.23573469C>G | CA410898745 | IGLL1 | c.439G>C (p.Val147Leu) c.*68G>C (n.*68G>C) c.442G>C (p.Val148Leu) | |
| 22 | g.23573469C>T | CA410898744 | IGLL1 | c.439G>A (p.Val147Met) c.*68G>A (n.*68G>A) c.442G>A (p.Val148Met) | |
| 22 | g.23573470C>A | CA513685866 | IGLL1 | c.438G>T (p.Thr146=) c.*67G>T (n.*67G>T) c.441G>T (p.Thr147=) | |
| 22 | g.23573470C= | CA2397855936 | IGLL1 | c.438G= (p.Thr146=) c.*67G= (n.*67G=) c.441G= (p.Thr147=) | |
| 22 | g.23573470C>G | CA10143274 | IGLL1 | c.438G>C (p.Thr146=) c.*67G>C (n.*67G>C) c.441G>C (p.Thr147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573470C>T | CA10143273 | IGLL1 | c.438G>A (p.Thr146=) c.*67G>A (n.*67G>A) c.441G>A (p.Thr147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573471G>A | CA10143275 | IGLL1 | c.437C>T (p.Thr146Met) c.*66C>T (n.*66C>T) c.440C>T (p.Thr147Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573471G>C | CA410898747 | IGLL1 | c.437C>G (p.Thr146Arg) c.*66C>G (n.*66C>G) c.440C>G (p.Thr147Arg) | |
| 22 | g.23573471G= | CA2397855937 | IGLL1 | c.437C= (p.Thr146=) c.*66C= (n.*66C=) c.440C= (p.Thr147=) | |
| 22 | g.23573471G>T | CA410898748 | IGLL1 | c.437C>A (p.Thr146Lys) c.*66C>A (n.*66C>A) c.440C>A (p.Thr147Lys) | gnomAD v4 |
| 22 | g.23573472T>A | CA410898749 | IGLL1 | c.436A>T (p.Thr146Ser) c.*65A>T (n.*65A>T) c.439A>T (p.Thr147Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.23573472T>C | CA410898750 | IGLL1 | c.436A>G (p.Thr146Ala) c.*65A>G (n.*65A>G) c.439A>G (p.Thr147Ala) | |
| 22 | g.23573472T>G | CA410898751 | IGLL1 | c.436A>C (p.Thr146Pro) c.*65A>C (n.*65A>C) c.439A>C (p.Thr147Pro) | |
| 22 | g.23573472T= | CA2397855938 | IGLL1 | c.436A= (p.Thr146=) c.*65A= (n.*65A=) c.439A= (p.Thr147=) | |
| 22 | g.23573473C>A | CA410898752 | IGLL1 | c.435G>T (p.Leu145Phe) c.*64G>T (n.*64G>T) c.438G>T (p.Leu146Phe) | |
| 22 | g.23573473C= | CA2397855939 | IGLL1 | c.435G= (p.Leu145=) c.*64G= (n.*64G=) c.438G= (p.Leu146=) | |
| 22 | g.23573473C>G | CA410898753 | IGLL1 | c.435G>C (p.Leu145Phe) c.*64G>C (n.*64G>C) c.438G>C (p.Leu146Phe) | gnomAD v4 |
| 22 | g.23573473C>T | CA513685870 | IGLL1 | c.435G>A (p.Leu145=) c.*64G>A (n.*64G>A) c.438G>A (p.Leu146=) | dbSNP gnomAD v4 |
| 22 | g.23573474A= | CA2397855940 | IGLL1 | c.434T= (p.Leu145=) c.*63T= (n.*63T=) c.437T= (p.Leu146=) | |
| 22 | g.23573474A>C | CA410898754 | IGLL1 | c.434T>G (p.Leu145Trp) c.*63T>G (n.*63T>G) c.437T>G (p.Leu146Trp) | dbSNP |
| 22 | g.23573474A>G | CA410898756 | IGLL1 | c.434T>C (p.Leu145Ser) c.*63T>C (n.*63T>C) c.437T>C (p.Leu146Ser) | |
| 22 | g.23573474A>T | CA410898755 | IGLL1 | c.434T>A (p.Leu145Ter) c.*63T>A (n.*63T>A) c.437T>A (p.Leu146Ter) | dbSNP |
| 22 | g.23573475A= | CA2397855941 | IGLL1 | c.433T= (p.Leu145=) c.*62T= (n.*62T=) c.436T= (p.Leu146=) | |
| 22 | g.23573475A>C | CA410898757 | IGLL1 | c.433T>G (p.Leu145Val) c.*62T>G (n.*62T>G) c.436T>G (p.Leu146Val) | |
| 22 | g.23573475A>G | CA10143276 | IGLL1 | c.433T>C (p.Leu145=) c.*62T>C (n.*62T>C) c.436T>C (p.Leu146=) | dbSNP ExAC |
| 22 | g.23573475A>T | CA410898758 | IGLL1 | c.433T>A (p.Leu145Met) c.*62T>A (n.*62T>A) c.436T>A (p.Leu146Met) | |
| 22 | g.23573476del | CA2577661763 | IGLL1 | c.432del (p.Leu145Ter) c.*61del (n.*61del) c.435del (p.Leu146Ter) | |
| 22 | g.23573476G>A | CA513685873 | IGLL1 | c.432C>T (p.Ile144=) c.*61C>T (n.*61C>T) c.435C>T (p.Ile145=) | |
| 22 | g.23573476G>C | CA410898759 | IGLL1 | c.432C>G (p.Ile144Met) c.*61C>G (n.*61C>G) c.435C>G (p.Ile145Met) | gnomAD v4 |
| 22 | g.23573476G>T | CA513685875 | IGLL1 | c.432C>A (p.Ile144=) c.*61C>A (n.*61C>A) c.435C>A (p.Ile145=) | |
| 22 | g.23573477A>C | CA410898762 | IGLL1 | c.431T>G (p.Ile144Ser) c.*60T>G (n.*60T>G) c.434T>G (p.Ile145Ser) | |
| 22 | g.23573477A>G | CA410898760 | IGLL1 | c.431T>C (p.Ile144Thr) c.*60T>C (n.*60T>C) c.434T>C (p.Ile145Thr) | |
| 22 | g.23573477A>T | CA410898761 | IGLL1 | c.431T>A (p.Ile144Asn) c.*60T>A (n.*60T>A) c.434T>A (p.Ile145Asn) | |
| 22 | g.23573478T>A | CA410898763 | IGLL1 | c.430A>T (p.Ile144Phe) c.*59A>T (n.*59A>T) c.433A>T (p.Ile145Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.23573478T>C | CA410898764 | IGLL1 | c.430A>G (p.Ile144Val) c.*59A>G (n.*59A>G) c.433A>G (p.Ile145Val) | |
| 22 | g.23573478T>G | CA410898765 | IGLL1 | c.430A>C (p.Ile144Leu) c.*59A>C (n.*59A>C) c.433A>C (p.Ile145Leu) | |
| 22 | g.23573478T= | CA2397855942 | IGLL1 | c.430A= (p.Ile144=) c.*59A= (n.*59A=) c.433A= (p.Ile145=) | |
| 22 | g.23573479T>A | CA513685879 | IGLL1 | c.429A>T (p.Gly143=) c.*58A>T (n.*58A>T) c.432A>T (p.Gly144=) | |
| 22 | g.23573479T>C | CA513685880 | IGLL1 | c.429A>G (p.Gly143=) c.*58A>G (n.*58A>G) c.432A>G (p.Gly144=) | |
| 22 | g.23573479T>G | CA513685881 | IGLL1 | c.429A>C (p.Gly143=) c.*58A>C (n.*58A>C) c.432A>C (p.Gly144=) | |
| 22 | g.23573480C>A | CA410898766 | IGLL1 | c.428G>T (p.Gly143Val) c.*57G>T (n.*57G>T) c.431G>T (p.Gly144Val) | |
| 22 | g.23573480C>G | CA410898767 | IGLL1 | c.428G>C (p.Gly143Ala) c.*57G>C (n.*57G>C) c.431G>C (p.Gly144Ala) | gnomAD v4 |
| 22 | g.23573480C>T | CA410898768 | IGLL1 | c.428G>A (p.Gly143Glu) c.*57G>A (n.*57G>A) c.431G>A (p.Gly144Glu) | COSMIC |
| 22 | g.23573481C>A | CA410898771 | IGLL1 | c.427G>T (p.Gly143Ter) c.*56G>T (n.*56G>T) c.430G>T (p.Gly144Ter) | |
| 22 | g.23573481C= | CA2397855943 | IGLL1 | c.427G= (p.Gly143=) c.*56G= (n.*56G=) c.430G= (p.Gly144=) | |
| 22 | g.23573481C>G | CA410898769 | IGLL1 | c.427G>C (p.Gly143Arg) c.*56G>C (n.*56G>C) c.430G>C (p.Gly144Arg) | |
| 22 | g.23573481C>T | CA410898770 | IGLL1 | c.427G>A (p.Gly143Arg) c.*56G>A (n.*56G>A) c.430G>A (p.Gly144Arg) | dbSNP |
| 22 | g.23573482C>A | CA513685883 | IGLL1 | c.426G>T (p.Pro142=) c.*55G>T (n.*55G>T) c.429G>T (p.Pro143=) | COSMIC |
| 22 | g.23573482C= | CA2397855944 | IGLL1 | c.426G= (p.Pro142=) c.*55G= (n.*55G=) c.429G= (p.Pro143=) | |
| 22 | g.23573482C>G | CA10143278 | IGLL1 | c.426G>C (p.Pro142=) c.*55G>C (n.*55G>C) c.429G>C (p.Pro143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.23573482C>T | CA10143277 | IGLL1 | c.426G>A (p.Pro142=) c.*55G>A (n.*55G>A) c.429G>A (p.Pro143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |