Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.87264297_87264311del | CA2577827225 | POU1F1 | c.499_513del (p.Val167_Lys171del) c.421_435del (p.Val141_Lys145del) c.215-2071_215-2057del (n.215-2071_215-2057del) | |
3 | g.87264294T>A | CA250621 | POU1F1 | c.511A>T (p.Lys171Ter) c.433A>T (p.Lys145Ter) c.215-2059A>T (n.215-2059A>T) | ClinVar dbSNP |
3 | g.87264294T>C | CA353693493 | POU1F1 | c.511A>G (p.Lys171Glu) c.433A>G (p.Lys145Glu) c.215-2059A>G (n.215-2059A>G) | |
3 | g.87264294T>G | CA353693494 | POU1F1 | c.511A>C (p.Lys171Gln) c.433A>C (p.Lys145Gln) c.215-2059A>C (n.215-2059A>C) | |
3 | g.87264294T= | CA1381534973 | POU1F1 | c.511A= (p.Lys171=) c.433A= (p.Lys145=) c.215-2059A= (n.215-2059A=) | |
3 | g.87264295A>C | CA353693495 | POU1F1 | c.510T>G (p.Ile170Met) c.432T>G (p.Ile144Met) c.215-2060T>G (n.215-2060T>G) | |
3 | g.87264295A>G | CA434626981 | POU1F1 | c.510T>C (p.Ile170=) c.432T>C (p.Ile144=) c.215-2060T>C (n.215-2060T>C) | |
3 | g.87264295A>T | CA434626980 | POU1F1 | c.510T>A (p.Ile170=) c.432T>A (p.Ile144=) c.215-2060T>A (n.215-2060T>A) | |
3 | g.87264296A= | CA1381534974 | POU1F1 | c.509T= (p.Ile170=) c.431T= (p.Ile144=) c.215-2061T= (n.215-2061T=) | |
3 | g.87264296A>C | CA353693496 | POU1F1 | c.509T>G (p.Ile170Ser) c.431T>G (p.Ile144Ser) c.215-2061T>G (n.215-2061T>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264296A>G | CA353693497 | POU1F1 | c.509T>C (p.Ile170Thr) c.431T>C (p.Ile144Thr) c.215-2061T>C (n.215-2061T>C) | |
3 | g.87264296A>T | CA353693498 | POU1F1 | c.509T>A (p.Ile170Asn) c.431T>A (p.Ile144Asn) c.215-2061T>A (n.215-2061T>A) | |
3 | g.87264297T>A | CA353693501 | POU1F1 | c.508A>T (p.Ile170Phe) c.430A>T (p.Ile144Phe) c.215-2062A>T (n.215-2062A>T) | |
3 | g.87264297T>C | CA353693500 | POU1F1 | c.508A>G (p.Ile170Val) c.430A>G (p.Ile144Val) c.215-2062A>G (n.215-2062A>G) | gnomAD v4 |
3 | g.87264297T>G | CA353693499 | POU1F1 | c.508A>C (p.Ile170Leu) c.430A>C (p.Ile144Leu) c.215-2062A>C (n.215-2062A>C) | |
3 | g.87264298T>A | CA434626985 | POU1F1 | c.507A>T (p.Arg169=) c.429A>T (p.Arg143=) c.215-2063A>T (n.215-2063A>T) | |
3 | g.87264298T>C | CA434626987 | POU1F1 | c.507A>G (p.Arg169=) c.429A>G (p.Arg143=) c.215-2063A>G (n.215-2063A>G) | |
3 | g.87264298T>G | CA434626986 | POU1F1 | c.507A>C (p.Arg169=) c.429A>C (p.Arg143=) c.215-2063A>C (n.215-2063A>C) | |
3 | g.87264299C>A | CA2501213 | POU1F1 | c.506G>T (p.Arg169Leu) c.428G>T (p.Arg143Leu) c.215-2064G>T (n.215-2064G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264299C= | CA1381534976 | POU1F1 | c.506G= (p.Arg169=) c.428G= (p.Arg143=) c.215-2064G= (n.215-2064G=) | |
3 | g.87264299C>G | CA353693502 | POU1F1 | c.506G>C (p.Arg169Pro) c.428G>C (p.Arg143Pro) c.215-2064G>C (n.215-2064G>C) | |
3 | g.87264299C>T | CA250609 | POU1F1 | c.506G>A (p.Arg169Gln) c.428G>A (p.Arg143Gln) c.215-2064G>A (n.215-2064G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.87264300G>A | CA79036901 | POU1F1 | c.505C>T (p.Arg169Ter) c.427C>T (p.Arg143Ter) c.215-2065C>T (n.215-2065C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.87264300G>C | CA353693509 | POU1F1 | c.505C>G (p.Arg169Gly) c.427C>G (p.Arg143Gly) c.215-2065C>G (n.215-2065C>G) | |
3 | g.87264300G= | CA1381534979 | POU1F1 | c.505C= (p.Arg169=) c.427C= (p.Arg143=) c.215-2065C= (n.215-2065C=) | |
3 | g.87264300G>T | CA2501214 | POU1F1 | c.505C>A (p.Arg169=) c.427C>A (p.Arg143=) c.215-2065C>A (n.215-2065C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264301T>A | CA353693514 | POU1F1 | c.504A>T (p.Arg168Ser) c.426A>T (p.Arg142Ser) c.215-2066A>T (n.215-2066A>T) | |
3 | g.87264301T>C | CA434626989 | POU1F1 | c.504A>G (p.Arg168=) c.426A>G (p.Arg142=) c.215-2066A>G (n.215-2066A>G) | |
3 | g.87264301T>G | CA353693517 | POU1F1 | c.504A>C (p.Arg168Ser) c.426A>C (p.Arg142Ser) c.215-2066A>C (n.215-2066A>C) | |
3 | g.87264302C>A | CA353693519 | POU1F1 | c.503G>T (p.Arg168Ile) c.425G>T (p.Arg142Ile) c.215-2067G>T (n.215-2067G>T) | |
3 | g.87264302C= | CA1381534997 | POU1F1 | c.503G= (p.Arg168=) c.425G= (p.Arg142=) c.215-2067G= (n.215-2067G=) | |
3 | g.87264302C>G | CA353693520 | POU1F1 | c.503G>C (p.Arg168Thr) c.425G>C (p.Arg142Thr) c.215-2067G>C (n.215-2067G>C) | |
3 | g.87264302C>T | CA353693521 | POU1F1 | c.503G>A (p.Arg168Lys) c.425G>A (p.Arg142Lys) c.215-2067G>A (n.215-2067G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264303T>A | CA353693524 | POU1F1 | c.502A>T (p.Arg168Ter) c.424A>T (p.Arg142Ter) c.215-2068A>T (n.215-2068A>T) | |
3 | g.87264303T>C | CA353693526 | POU1F1 | c.502A>G (p.Arg168Gly) c.424A>G (p.Arg142Gly) c.215-2068A>G (n.215-2068A>G) | |
3 | g.87264303T>G | CA434626992 | POU1F1 | c.502A>C (p.Arg168=) c.424A>C (p.Arg142=) c.215-2068A>C (n.215-2068A>C) | |
3 | g.87264304C>A | CA434626993 | POU1F1 | c.501G>T (p.Val167=) c.423G>T (p.Val141=) c.215-2069G>T (n.215-2069G>T) | |
3 | g.87264304C>G | CA434626994 | POU1F1 | c.501G>C (p.Val167=) c.423G>C (p.Val141=) c.215-2069G>C (n.215-2069G>C) | |
3 | g.87264304C>T | CA434626995 | POU1F1 | c.501G>A (p.Val167=) c.423G>A (p.Val141=) c.215-2069G>A (n.215-2069G>A) | |
3 | g.87264304_87264306del | CA2666629899 | POU1F1 | c.499_501del (p.Val167del) c.421_423del (p.Val141del) c.215-2071_215-2069del (n.215-2071_215-2069del) | gnomAD v4 |
3 | g.87264305A>C | CA353693531 | POU1F1 | c.500T>G (p.Val167Gly) c.422T>G (p.Val141Gly) c.215-2070T>G (n.215-2070T>G) | |
3 | g.87264305A>G | CA353693530 | POU1F1 | c.500T>C (p.Val167Ala) c.422T>C (p.Val141Ala) c.215-2070T>C (n.215-2070T>C) | gnomAD v4 |
3 | g.87264305A>T | CA353693529 | POU1F1 | c.500T>A (p.Val167Glu) c.422T>A (p.Val141Glu) c.215-2070T>A (n.215-2070T>A) | |
3 | g.87264306C>A | CA353693533 | POU1F1 | c.499G>T (p.Val167Leu) c.421G>T (p.Val141Leu) c.215-2071G>T (n.215-2071G>T) | |
3 | g.87264306C= | CA1381535002 | POU1F1 | c.499G= (p.Val167=) c.421G= (p.Val141=) c.215-2071G= (n.215-2071G=) | |
3 | g.87264306C>G | CA353693535 | POU1F1 | c.499G>C (p.Val167Leu) c.421G>C (p.Val141Leu) c.215-2071G>C (n.215-2071G>C) | |
3 | g.87264306C>T | CA2501215 | POU1F1 | c.499G>A (p.Val167Met) c.421G>A (p.Val141Met) c.215-2071G>A (n.215-2071G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264307T>A | CA353693539 | POU1F1 | c.498A>T (p.Lys166Asn) c.420A>T (p.Lys140Asn) c.215-2072A>T (n.215-2072A>T) | |
3 | g.87264307T>C | CA434626997 | POU1F1 | c.498A>G (p.Lys166=) c.420A>G (p.Lys140=) c.215-2072A>G (n.215-2072A>G) | |
3 | g.87264307T>G | CA353693540 | POU1F1 | c.498A>C (p.Lys166Asn) c.420A>C (p.Lys140Asn) c.215-2072A>C (n.215-2072A>C) | |
3 | g.87264308T>A | CA353693541 | POU1F1 | c.497A>T (p.Lys166Ile) c.419A>T (p.Lys140Ile) c.215-2073A>T (n.215-2073A>T) | |
3 | g.87264308T>C | CA353693543 | POU1F1 | c.497A>G (p.Lys166Arg) c.419A>G (p.Lys140Arg) c.215-2073A>G (n.215-2073A>G) | |
3 | g.87264308T>G | CA353693544 | POU1F1 | c.497A>C (p.Lys166Thr) c.419A>C (p.Lys140Thr) c.215-2073A>C (n.215-2073A>C) | |
3 | g.87264309T>A | CA353693545 | POU1F1 | c.496A>T (p.Lys166Ter) c.418A>T (p.Lys140Ter) c.215-2074A>T (n.215-2074A>T) | |
3 | g.87264309T>C | CA353693546 | POU1F1 | c.496A>G (p.Lys166Glu) c.418A>G (p.Lys140Glu) c.215-2074A>G (n.215-2074A>G) | |
3 | g.87264309T>G | CA353693548 | POU1F1 | c.496A>C (p.Lys166Gln) c.418A>C (p.Lys140Gln) c.215-2074A>C (n.215-2074A>C) | |
3 | g.87264310A>C | CA353693551 | POU1F1 | c.495T>G (p.Phe165Leu) c.417T>G (p.Phe139Leu) c.215-2075T>G (n.215-2075T>G) | |
3 | g.87264310A>G | CA434626998 | POU1F1 | c.495T>C (p.Phe165=) c.417T>C (p.Phe139=) c.215-2075T>C (n.215-2075T>C) | |
3 | g.87264310A>T | CA353693553 | POU1F1 | c.495T>A (p.Phe165Leu) c.417T>A (p.Phe139Leu) c.215-2075T>A (n.215-2075T>A) | |
3 | g.87264311A>C | CA353693555 | POU1F1 | c.494T>G (p.Phe165Cys) c.416T>G (p.Phe139Cys) c.215-2076T>G (n.215-2076T>G) | |
3 | g.87264311A>G | CA353693556 | POU1F1 | c.494T>C (p.Phe165Ser) c.416T>C (p.Phe139Ser) c.215-2076T>C (n.215-2076T>C) | |
3 | g.87264311A>T | CA353693554 | POU1F1 | c.494T>A (p.Phe165Tyr) c.416T>A (p.Phe139Tyr) c.215-2076T>A (n.215-2076T>A) | |
3 | g.87264312A>C | CA353693559 | POU1F1 | c.493T>G (p.Phe165Val) c.415T>G (p.Phe139Val) c.215-2077T>G (n.215-2077T>G) | |
3 | g.87264312A>G | CA353693561 | POU1F1 | c.493T>C (p.Phe165Leu) c.415T>C (p.Phe139Leu) c.215-2077T>C (n.215-2077T>C) | gnomAD v4 |
3 | g.87264312A>T | CA353693563 | POU1F1 | c.493T>A (p.Phe165Ile) c.415T>A (p.Phe139Ile) c.215-2077T>A (n.215-2077T>A) | |
3 | g.87264313T>A | CA353693565 | POU1F1 | c.492A>T (p.Glu164Asp) c.414A>T (p.Glu138Asp) c.215-2078A>T (n.215-2078A>T) | |
3 | g.87264313T>C | CA434627000 | POU1F1 | c.492A>G (p.Glu164=) c.414A>G (p.Glu138=) c.215-2078A>G (n.215-2078A>G) | dbSNP |
3 | g.87264313T>G | CA353693567 | POU1F1 | c.492A>C (p.Glu164Asp) c.414A>C (p.Glu138Asp) c.215-2078A>C (n.215-2078A>C) | |
3 | g.87264313T= | CA1381535004 | POU1F1 | c.492A= (p.Glu164=) c.414A= (p.Glu138=) c.215-2078A= (n.215-2078A=) | |
3 | g.87264314T>A | CA353693568 | POU1F1 | c.491A>T (p.Glu164Val) c.413A>T (p.Glu138Val) c.215-2079A>T (n.215-2079A>T) | |
3 | g.87264314T>C | CA353693571 | POU1F1 | c.491A>G (p.Glu164Gly) c.413A>G (p.Glu138Gly) c.215-2079A>G (n.215-2079A>G) | |
3 | g.87264314T>G | CA353693572 | POU1F1 | c.491A>C (p.Glu164Ala) c.413A>C (p.Glu138Ala) c.215-2079A>C (n.215-2079A>C) | |
3 | g.87264315C>A | CA353693575 | POU1F1 | c.490G>T (p.Glu164Ter) c.412G>T (p.Glu138Ter) c.215-2080G>T (n.215-2080G>T) | COSMIC COSMIC |
3 | g.87264315C>G | CA353693576 | POU1F1 | c.490G>C (p.Glu164Gln) c.412G>C (p.Glu138Gln) c.215-2080G>C (n.215-2080G>C) | |
3 | g.87264315C>T | CA353693578 | POU1F1 | c.490G>A (p.Glu164Lys) c.412G>A (p.Glu138Lys) c.215-2080G>A (n.215-2080G>A) | |
3 | g.87264316A= | CA1381535009 | POU1F1 | c.489T= (p.Asn163=) c.411T= (p.Asn137=) c.215-2081T= (n.215-2081T=) | |
3 | g.87264316A>C | CA353693580 | POU1F1 | c.489T>G (p.Asn163Lys) c.411T>G (p.Asn137Lys) c.215-2081T>G (n.215-2081T>G) | gnomAD v4 |
3 | g.87264316A>G | CA434627004 | POU1F1 | c.489T>C (p.Asn163=) c.411T>C (p.Asn137=) c.215-2081T>C (n.215-2081T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.87264316A>T | CA353693584 | POU1F1 | c.489T>A (p.Asn163Lys) c.411T>A (p.Asn137Lys) c.215-2081T>A (n.215-2081T>A) | |
3 | g.87264317T>A | CA353693586 | POU1F1 | c.488A>T (p.Asn163Ile) c.410A>T (p.Asn137Ile) c.215-2082A>T (n.215-2082A>T) | |
3 | g.87264317T>C | CA2501216 | POU1F1 | c.488A>G (p.Asn163Ser) c.410A>G (p.Asn137Ser) c.215-2082A>G (n.215-2082A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264317T>G | CA353693587 | POU1F1 | c.488A>C (p.Asn163Thr) c.410A>C (p.Asn137Thr) c.215-2082A>C (n.215-2082A>C) | |
3 | g.87264317T= | CA1381535012 | POU1F1 | c.488A= (p.Asn163=) c.410A= (p.Asn137=) c.215-2082A= (n.215-2082A=) | |
3 | g.87264318T>A | CA353693591 | POU1F1 | c.487A>T (p.Asn163Tyr) c.409A>T (p.Asn137Tyr) c.215-2083A>T (n.215-2083A>T) | |
3 | g.87264318T>C | CA2501217 | POU1F1 | c.487A>G (p.Asn163Asp) c.409A>G (p.Asn137Asp) c.215-2083A>G (n.215-2083A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264318T>G | CA353693594 | POU1F1 | c.487A>C (p.Asn163His) c.409A>C (p.Asn137His) c.215-2083A>C (n.215-2083A>C) | |
3 | g.87264318T= | CA1381535014 | POU1F1 | c.487A= (p.Asn163=) c.409A= (p.Asn137=) c.215-2083A= (n.215-2083A=) | |
3 | g.87264319G>A | CA434627005 | POU1F1 | c.486C>T (p.Ala162=) c.408C>T (p.Ala136=) c.215-2084C>T (n.215-2084C>T) | |
3 | g.87264319G>C | CA434627006 | POU1F1 | c.486C>G (p.Ala162=) c.408C>G (p.Ala136=) c.215-2084C>G (n.215-2084C>G) | |
3 | g.87264319G>T | CA434627007 | POU1F1 | c.486C>A (p.Ala162=) c.408C>A (p.Ala136=) c.215-2084C>A (n.215-2084C>A) | |
3 | g.87264320G>A | CA353693596 | POU1F1 | c.485C>T (p.Ala162Val) c.407C>T (p.Ala136Val) c.215-2085C>T (n.215-2085C>T) | dbSNP gnomAD v4 |
3 | g.87264320G>C | CA353693597 | POU1F1 | c.485C>G (p.Ala162Gly) c.407C>G (p.Ala136Gly) c.215-2085C>G (n.215-2085C>G) | COSMIC COSMIC |
3 | g.87264320G= | CA1381535017 | POU1F1 | c.485C= (p.Ala162=) c.407C= (p.Ala136=) c.215-2085C= (n.215-2085C=) | |
3 | g.87264320G>T | CA353693599 | POU1F1 | c.485C>A (p.Ala162Asp) c.407C>A (p.Ala136Asp) c.215-2085C>A (n.215-2085C>A) | |
3 | g.87264321C>A | CA353693601 | POU1F1 | c.484G>T (p.Ala162Ser) c.406G>T (p.Ala136Ser) c.215-2086G>T (n.215-2086G>T) | |
3 | g.87264321C>G | CA353693602 | POU1F1 | c.484G>C (p.Ala162Pro) c.406G>C (p.Ala136Pro) c.215-2086G>C (n.215-2086G>C) | |
3 | g.87264321C>T | CA353693608 | POU1F1 | c.484G>A (p.Ala162Thr) c.406G>A (p.Ala136Thr) c.215-2086G>A (n.215-2086G>A) | |
3 | g.87264322A>C | CA353693610 | POU1F1 | c.483T>G (p.Phe161Leu) c.405T>G (p.Phe135Leu) c.215-2087T>G (n.215-2087T>G) | |
3 | g.87264322A>G | CA434627009 | POU1F1 | c.483T>C (p.Phe161=) c.405T>C (p.Phe135=) c.215-2087T>C (n.215-2087T>C) | gnomAD v4 |
3 | g.87264322A>T | CA353693612 | POU1F1 | c.483T>A (p.Phe161Leu) c.405T>A (p.Phe135Leu) c.215-2087T>A (n.215-2087T>A) | gnomAD v4 |
3 | g.87264323A= | CA1381535021 | POU1F1 | c.482T= (p.Phe161=) c.404T= (p.Phe135=) c.215-2088T= (n.215-2088T=) | |
3 | g.87264323A>C | CA250614 | POU1F1 | c.482T>G (p.Phe161Cys) c.404T>G (p.Phe135Cys) c.215-2088T>G (n.215-2088T>G) | ClinVar dbSNP |
3 | g.87264323A>G | CA353693617 | POU1F1 | c.482T>C (p.Phe161Ser) c.404T>C (p.Phe135Ser) c.215-2088T>C (n.215-2088T>C) | |
3 | g.87264323A>T | CA353693614 | POU1F1 | c.482T>A (p.Phe161Tyr) c.404T>A (p.Phe135Tyr) c.215-2088T>A (n.215-2088T>A) | |
3 | g.87264324A>C | CA353693622 | POU1F1 | c.481T>G (p.Phe161Val) c.403T>G (p.Phe135Val) c.215-2089T>G (n.215-2089T>G) | |
3 | g.87264324A>G | CA353693618 | POU1F1 | c.481T>C (p.Phe161Leu) c.403T>C (p.Phe135Leu) c.215-2089T>C (n.215-2089T>C) | |
3 | g.87264324A>T | CA353693624 | POU1F1 | c.481T>A (p.Phe161Ile) c.403T>A (p.Phe135Ile) c.215-2089T>A (n.215-2089T>A) | COSMIC |
3 | g.87264325C>A | CA353693630 | POU1F1 | c.480G>T (p.Lys160Asn) c.402G>T (p.Lys134Asn) c.215-2090G>T (n.215-2090G>T) | |
3 | g.87264325C>G | CA353693634 | POU1F1 | c.480G>C (p.Lys160Asn) c.402G>C (p.Lys134Asn) c.215-2090G>C (n.215-2090G>C) | |
3 | g.87264325C>T | CA434627012 | POU1F1 | c.480G>A (p.Lys160=) c.402G>A (p.Lys134=) c.215-2090G>A (n.215-2090G>A) | gnomAD v4 |
3 | g.87264326T>A | CA353693637 | POU1F1 | c.479A>T (p.Lys160Met) c.401A>T (p.Lys134Met) c.215-2091A>T (n.215-2091A>T) | |
3 | g.87264326T>C | CA353693638 | POU1F1 | c.479A>G (p.Lys160Arg) c.401A>G (p.Lys134Arg) c.215-2091A>G (n.215-2091A>G) | |
3 | g.87264326T>G | CA353693639 | POU1F1 | c.479A>C (p.Lys160Thr) c.401A>C (p.Lys134Thr) c.215-2091A>C (n.215-2091A>C) | |
3 | g.87264328_87264329del | CA2666629900 | POU1F1 | c.478_479del (p.Lys160ValfsTer4) c.400_401del (p.Lys134ValfsTer4) c.215-2092_215-2091del (n.215-2092_215-2091del) | gnomAD v4 |
3 | g.87264327T>A | CA353693640 | POU1F1 | c.478A>T (p.Lys160Ter) c.400A>T (p.Lys134Ter) c.215-2092A>T (n.215-2092A>T) | |
3 | g.87264327T>C | CA353693642 | POU1F1 | c.478A>G (p.Lys160Glu) c.400A>G (p.Lys134Glu) c.215-2092A>G (n.215-2092A>G) | |
3 | g.87264327T>G | CA353693643 | POU1F1 | c.478A>C (p.Lys160Gln) c.400A>C (p.Lys134Gln) c.215-2092A>C (n.215-2092A>C) | |
3 | g.87264328T>A | CA353693645 | POU1F1 | c.477A>T (p.Glu159Asp) c.399A>T (p.Glu133Asp) c.215-2093A>T (n.215-2093A>T) | |
3 | g.87264328T>C | CA434627019 | POU1F1 | c.477A>G (p.Glu159=) c.399A>G (p.Glu133=) c.215-2093A>G (n.215-2093A>G) | dbSNP |
3 | g.87264328T>G | CA353693647 | POU1F1 | c.477A>C (p.Glu159Asp) c.399A>C (p.Glu133Asp) c.215-2093A>C (n.215-2093A>C) | |
3 | g.87264328T= | CA1381535026 | POU1F1 | c.477A= (p.Glu159=) c.399A= (p.Glu133=) c.215-2093A= (n.215-2093A=) | |
3 | g.87264329T>A | CA353693650 | POU1F1 | c.476A>T (p.Glu159Val) c.398A>T (p.Glu133Val) c.215-2094A>T (n.215-2094A>T) | |
3 | g.87264329T>C | CA353693652 | POU1F1 | c.476A>G (p.Glu159Gly) c.398A>G (p.Glu133Gly) c.215-2094A>G (n.215-2094A>G) | |
3 | g.87264329T>G | CA2501218 | POU1F1 | c.476A>C (p.Glu159Ala) c.398A>C (p.Glu133Ala) c.215-2094A>C (n.215-2094A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264329T= | CA1381535031 | POU1F1 | c.476A= (p.Glu159=) c.398A= (p.Glu133=) c.215-2094A= (n.215-2094A=) | |
3 | g.87264330C>A | CA353693671 | POU1F1 | c.475G>T (p.Glu159Ter) c.397G>T (p.Glu133Ter) c.215-2095G>T (n.215-2095G>T) | |
3 | g.87264330C>G | CA353693656 | POU1F1 | c.475G>C (p.Glu159Gln) c.397G>C (p.Glu133Gln) c.215-2095G>C (n.215-2095G>C) | |
3 | g.87264330C>T | CA353693658 | POU1F1 | c.475G>A (p.Glu159Lys) c.397G>A (p.Glu133Lys) c.215-2095G>A (n.215-2095G>A) | COSMIC COSMIC |
3 | g.87264331A>C | CA434627021 | POU1F1 | c.474T>G (p.Leu158=) c.396T>G (p.Leu132=) c.215-2096T>G (n.215-2096T>G) | |
3 | g.87264331A>G | CA434627022 | POU1F1 | c.474T>C (p.Leu158=) c.396T>C (p.Leu132=) c.215-2096T>C (n.215-2096T>C) | |
3 | g.87264331A>T | CA434627023 | POU1F1 | c.474T>A (p.Leu158=) c.396T>A (p.Leu132=) c.215-2096T>A (n.215-2096T>A) | |
3 | g.87264332A= | CA1381535034 | POU1F1 | c.473T= (p.Leu158=) c.395T= (p.Leu132=) c.215-2097T= (n.215-2097T=) | |
3 | g.87264332A>C | CA353693672 | POU1F1 | c.473T>G (p.Leu158Arg) c.395T>G (p.Leu132Arg) c.215-2097T>G (n.215-2097T>G) | |
3 | g.87264332A>G | CA353693673 | POU1F1 | c.473T>C (p.Leu158Pro) c.395T>C (p.Leu132Pro) c.215-2097T>C (n.215-2097T>C) | gnomAD v4 |
3 | g.87264332A>T | CA79036902 | POU1F1 | c.473T>A (p.Leu158His) c.395T>A (p.Leu132His) c.215-2097T>A (n.215-2097T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264333G>A | CA353693677 | POU1F1 | c.472C>T (p.Leu158Phe) c.394C>T (p.Leu132Phe) c.215-2098C>T (n.215-2098C>T) | |
3 | g.87264333G>C | CA353693679 | POU1F1 | c.472C>G (p.Leu158Val) c.394C>G (p.Leu132Val) c.215-2098C>G (n.215-2098C>G) | |
3 | g.87264333G>T | CA353693681 | POU1F1 | c.472C>A (p.Leu158Ile) c.394C>A (p.Leu132Ile) c.215-2098C>A (n.215-2098C>A) | gnomAD v4 |
3 | g.87264333_87264338del | CA2666629901 | POU1F1 | c.467_472del (p.Arg156_Leu158delinsIle) c.389_394del (p.Arg130_Leu132delinsIle) c.215-2103_215-2098del (n.215-2103_215-2098del) | gnomAD v4 |
3 | g.87264334T>A | CA353693683 | POU1F1 | c.471A>T (p.Glu157Asp) c.393A>T (p.Glu131Asp) c.215-2099A>T (n.215-2099A>T) | |
3 | g.87264334T>C | CA434627027 | POU1F1 | c.471A>G (p.Glu157=) c.393A>G (p.Glu131=) c.215-2099A>G (n.215-2099A>G) | dbSNP |
3 | g.87264334T>G | CA353693684 | POU1F1 | c.471A>C (p.Glu157Asp) c.393A>C (p.Glu131Asp) c.215-2099A>C (n.215-2099A>C) | |
3 | g.87264334T= | CA1381535036 | POU1F1 | c.471A= (p.Glu157=) c.393A= (p.Glu131=) c.215-2099A= (n.215-2099A=) | |
3 | g.87264335T>A | CA353693685 | POU1F1 | c.470A>T (p.Glu157Val) c.392A>T (p.Glu131Val) c.215-2100A>T (n.215-2100A>T) | |
3 | g.87264335T>C | CA353693687 | POU1F1 | c.470A>G (p.Glu157Gly) c.392A>G (p.Glu131Gly) c.215-2100A>G (n.215-2100A>G) | |
3 | g.87264335T>G | CA353693688 | POU1F1 | c.470A>C (p.Glu157Ala) c.392A>C (p.Glu131Ala) c.215-2100A>C (n.215-2100A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264335T= | CA1381535039 | POU1F1 | c.470A= (p.Glu157=) c.392A= (p.Glu131=) c.215-2100A= (n.215-2100A=) | |
3 | g.87264336C>A | CA353693701 | POU1F1 | c.469G>T (p.Glu157Ter) c.391G>T (p.Glu131Ter) c.215-2101G>T (n.215-2101G>T) | COSMIC COSMIC |
3 | g.87264336C= | CA1381535042 | POU1F1 | c.469G= (p.Glu157=) c.391G= (p.Glu131=) c.215-2101G= (n.215-2101G=) | |
3 | g.87264336C>G | CA353693698 | POU1F1 | c.469G>C (p.Glu157Gln) c.391G>C (p.Glu131Gln) c.215-2101G>C (n.215-2101G>C) | |
3 | g.87264336C>T | CA353693692 | POU1F1 | c.469G>A (p.Glu157Lys) c.391G>A (p.Glu131Lys) c.215-2101G>A (n.215-2101G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264337T>A | CA353693703 | POU1F1 | c.468A>T (p.Arg156Ser) c.390A>T (p.Arg130Ser) c.215-2102A>T (n.215-2102A>T) | |
3 | g.87264337T>C | CA434627030 | POU1F1 | c.468A>G (p.Arg156=) c.390A>G (p.Arg130=) c.215-2102A>G (n.215-2102A>G) | |
3 | g.87264337T>G | CA353693705 | POU1F1 | c.468A>C (p.Arg156Ser) c.390A>C (p.Arg130Ser) c.215-2102A>C (n.215-2102A>C) | |
3 | g.87264338C>A | CA353693706 | POU1F1 | c.467G>T (p.Arg156Ile) c.389G>T (p.Arg130Ile) c.215-2103G>T (n.215-2103G>T) | |
3 | g.87264338C= | CA1381535046 | POU1F1 | c.467G= (p.Arg156=) c.389G= (p.Arg130=) c.215-2103G= (n.215-2103G=) | |
3 | g.87264338C>G | CA2501219 | POU1F1 | c.467G>C (p.Arg156Thr) c.389G>C (p.Arg130Thr) c.215-2103G>C (n.215-2103G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264338C>T | CA353693707 | POU1F1 | c.467G>A (p.Arg156Lys) c.389G>A (p.Arg130Lys) c.215-2103G>A (n.215-2103G>A) | |
3 | g.87264339T>A | CA353693709 | POU1F1 | c.466A>T (p.Arg156Ter) c.388A>T (p.Arg130Ter) c.215-2104A>T (n.215-2104A>T) | |
3 | g.87264339T>C | CA353693713 | POU1F1 | c.466A>G (p.Arg156Gly) c.388A>G (p.Arg130Gly) c.215-2104A>G (n.215-2104A>G) | |
3 | g.87264339T>G | CA434627034 | POU1F1 | c.466A>C (p.Arg156=) c.388A>C (p.Arg130=) c.215-2104A>C (n.215-2104A>C) | |
3 | g.87264340G>A | CA434627036 | POU1F1 | c.465C>T (p.Ile155=) c.387C>T (p.Ile129=) c.215-2105C>T (n.215-2105C>T) | |
3 | g.87264340G>C | CA353693715 | POU1F1 | c.465C>G (p.Ile155Met) c.387C>G (p.Ile129Met) c.215-2105C>G (n.215-2105C>G) | |
3 | g.87264340G>T | CA434627038 | POU1F1 | c.465C>A (p.Ile155=) c.387C>A (p.Ile129=) c.215-2105C>A (n.215-2105C>A) | |
3 | g.87264341A= | CA1381535051 | POU1F1 | c.464T= (p.Ile155=) c.386T= (p.Ile129=) c.215-2106T= (n.215-2106T=) | |
3 | g.87264341A>C | CA353693717 | POU1F1 | c.464T>G (p.Ile155Ser) c.386T>G (p.Ile129Ser) c.215-2106T>G (n.215-2106T>G) | |
3 | g.87264341A>G | CA353693718 | POU1F1 | c.464T>C (p.Ile155Thr) c.386T>C (p.Ile129Thr) c.215-2106T>C (n.215-2106T>C) | |
3 | g.87264341A>T | CA79036903 | POU1F1 | c.464T>A (p.Ile155Asn) c.386T>A (p.Ile129Asn) c.215-2106T>A (n.215-2106T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264342T>A | CA353693719 | POU1F1 | c.463A>T (p.Ile155Phe) c.385A>T (p.Ile129Phe) c.215-2107A>T (n.215-2107A>T) | |
3 | g.87264342T>C | CA353693720 | POU1F1 | c.463A>G (p.Ile155Val) c.385A>G (p.Ile129Val) c.215-2107A>G (n.215-2107A>G) | |
3 | g.87264342T>G | CA353693721 | POU1F1 | c.463A>C (p.Ile155Leu) c.385A>C (p.Ile129Leu) c.215-2107A>C (n.215-2107A>C) | |
3 | g.87264343T>A | CA353693724 | POU1F1 | c.462A>T (p.Glu154Asp) c.384A>T (p.Glu128Asp) c.215-2108A>T (n.215-2108A>T) | |
3 | g.87264343T>C | CA434627051 | POU1F1 | c.462A>G (p.Glu154=) c.384A>G (p.Glu128=) c.215-2108A>G (n.215-2108A>G) | |
3 | g.87264343T>G | CA353693725 | POU1F1 | c.462A>C (p.Glu154Asp) c.384A>C (p.Glu128Asp) c.215-2108A>C (n.215-2108A>C) | |
3 | g.87264344T>A | CA353693728 | POU1F1 | c.461A>T (p.Glu154Val) c.383A>T (p.Glu128Val) c.215-2109A>T (n.215-2109A>T) | |
3 | g.87264344T>C | CA353693730 | POU1F1 | c.461A>G (p.Glu154Gly) c.383A>G (p.Glu128Gly) c.215-2109A>G (n.215-2109A>G) | dbSNP |
3 | g.87264344T>G | CA353693734 | POU1F1 | c.461A>C (p.Glu154Ala) c.383A>C (p.Glu128Ala) c.215-2109A>C (n.215-2109A>C) | |
3 | g.87264344T= | CA1381535052 | POU1F1 | c.461A= (p.Glu154=) c.383A= (p.Glu128=) c.215-2109A= (n.215-2109A=) | |
3 | g.87264345C>A | CA353693735 | POU1F1 | c.460G>T (p.Glu154Ter) c.382G>T (p.Glu128Ter) c.215-2110G>T (n.215-2110G>T) | |
3 | g.87264345C>G | CA353693737 | POU1F1 | c.460G>C (p.Glu154Gln) c.382G>C (p.Glu128Gln) c.215-2110G>C (n.215-2110G>C) | |
3 | g.87264345C>T | CA353693739 | POU1F1 | c.460G>A (p.Glu154Lys) c.382G>A (p.Glu128Lys) c.215-2110G>A (n.215-2110G>A) | |
3 | g.87264346T>A | CA434627060 | POU1F1 | c.459A>T (p.Pro153=) c.381A>T (p.Pro127=) c.215-2111A>T (n.215-2111A>T) | |
3 | g.87264346T>C | CA434627061 | POU1F1 | c.459A>G (p.Pro153=) c.381A>G (p.Pro127=) c.215-2111A>G (n.215-2111A>G) | |
3 | g.87264346T>G | CA434627062 | POU1F1 | c.459A>C (p.Pro153=) c.381A>C (p.Pro127=) c.215-2111A>C (n.215-2111A>C) | |
3 | g.87264347G>A | CA2501220 | POU1F1 | c.458C>T (p.Pro153Leu) c.380C>T (p.Pro127Leu) c.215-2112C>T (n.215-2112C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264347G>C | CA353693740 | POU1F1 | c.458C>G (p.Pro153Arg) c.380C>G (p.Pro127Arg) c.215-2112C>G (n.215-2112C>G) | |
3 | g.87264347G= | CA1381535054 | POU1F1 | c.458C= (p.Pro153=) c.380C= (p.Pro127=) c.215-2112C= (n.215-2112C=) | |
3 | g.87264347G>T | CA353693742 | POU1F1 | c.458C>A (p.Pro153Gln) c.380C>A (p.Pro127Gln) c.215-2112C>A (n.215-2112C>A) | |
3 | g.87264348G>A | CA353693743 | POU1F1 | c.457C>T (p.Pro153Ser) c.379C>T (p.Pro127Ser) c.215-2113C>T (n.215-2113C>T) | |
3 | g.87264348G>C | CA353693745 | POU1F1 | c.457C>G (p.Pro153Ala) c.379C>G (p.Pro127Ala) c.215-2113C>G (n.215-2113C>G) | |
3 | g.87264348G>T | CA353693747 | POU1F1 | c.457C>A (p.Pro153Thr) c.379C>A (p.Pro127Thr) c.215-2113C>A (n.215-2113C>A) | |
3 | g.87264349A= | CA1381535056 | POU1F1 | c.456T= (p.Ser152=) c.378T= (p.Ser126=) c.215-2114T= (n.215-2114T=) | |
3 | g.87264349A>C | CA434627064 | POU1F1 | c.456T>G (p.Ser152=) c.378T>G (p.Ser126=) c.215-2114T>G (n.215-2114T>G) | |
3 | g.87264349A>G | CA434627066 | POU1F1 | c.456T>C (p.Ser152=) c.378T>C (p.Ser126=) c.215-2114T>C (n.215-2114T>C) | dbSNP |
3 | g.87264349A>T | CA434627069 | POU1F1 | c.456T>A (p.Ser152=) c.378T>A (p.Ser126=) c.215-2114T>A (n.215-2114T>A) | |
3 | g.87264350G>A | CA353693753 | POU1F1 | c.455C>T (p.Ser152Phe) c.377C>T (p.Ser126Phe) c.215-2115C>T (n.215-2115C>T) | |
3 | g.87264350G>C | CA353693751 | POU1F1 | c.455C>G (p.Ser152Cys) c.377C>G (p.Ser126Cys) c.215-2115C>G (n.215-2115C>G) | |
3 | g.87264350G>T | CA353693750 | POU1F1 | c.455C>A (p.Ser152Tyr) c.377C>A (p.Ser126Tyr) c.215-2115C>A (n.215-2115C>A) | |
3 | g.87264351A>C | CA353693755 | POU1F1 | c.454T>G (p.Ser152Ala) c.376T>G (p.Ser126Ala) c.215-2116T>G (n.215-2116T>G) | |
3 | g.87264351A>G | CA353693760 | POU1F1 | c.454T>C (p.Ser152Pro) c.376T>C (p.Ser126Pro) c.215-2116T>C (n.215-2116T>C) | |
3 | g.87264351A>T | CA353693757 | POU1F1 | c.454T>A (p.Ser152Thr) c.376T>A (p.Ser126Thr) c.215-2116T>A (n.215-2116T>A) | |
3 | g.87264352A>C | CA353693763 | POU1F1 | c.453T>G (p.Asp151Glu) c.375T>G (p.Asp125Glu) c.215-2117T>G (n.215-2117T>G) | |
3 | g.87264352A>G | CA434627076 | POU1F1 | c.453T>C (p.Asp151=) c.375T>C (p.Asp125=) c.215-2117T>C (n.215-2117T>C) | |
3 | g.87264352A>T | CA353693764 | POU1F1 | c.453T>A (p.Asp151Glu) c.375T>A (p.Asp125Glu) c.215-2117T>A (n.215-2117T>A) | |
3 | g.87264353T>A | CA353693767 | POU1F1 | c.452A>T (p.Asp151Val) c.374A>T (p.Asp125Val) c.215-2118A>T (n.215-2118A>T) | |
3 | g.87264353T>C | CA353693769 | POU1F1 | c.452A>G (p.Asp151Gly) c.374A>G (p.Asp125Gly) c.215-2118A>G (n.215-2118A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264353T>G | CA353693771 | POU1F1 | c.452A>C (p.Asp151Ala) c.374A>C (p.Asp125Ala) c.215-2118A>C (n.215-2118A>C) | |
3 | g.87264353T= | CA1381535057 | POU1F1 | c.452A= (p.Asp151=) c.374A= (p.Asp125=) c.215-2118A= (n.215-2118A=) | |
3 | g.87264354C>A | CA353693775 | POU1F1 | c.451G>T (p.Asp151Tyr) c.373G>T (p.Asp125Tyr) c.215-2119G>T (n.215-2119G>T) | |
3 | g.87264354C>G | CA353693777 | POU1F1 | c.451G>C (p.Asp151His) c.373G>C (p.Asp125His) c.215-2119G>C (n.215-2119G>C) | |
3 | g.87264354C>T | CA353693779 | POU1F1 | c.451G>A (p.Asp151Asn) c.373G>A (p.Asp125Asn) c.215-2119G>A (n.215-2119G>A) | |
3 | g.87264355C>A | CA353693780 | POU1F1 | c.450G>T (p.Met150Ile) c.372G>T (p.Met124Ile) c.215-2120G>T (n.215-2120G>T) | |
3 | g.87264355C= | CA1381535060 | POU1F1 | c.450G= (p.Met150=) c.372G= (p.Met124=) c.215-2120G= (n.215-2120G=) | |
3 | g.87264355C>G | CA353693781 | POU1F1 | c.450G>C (p.Met150Ile) c.372G>C (p.Met124Ile) c.215-2120G>C (n.215-2120G>C) | |
3 | g.87264355C>T | CA2501221 | POU1F1 | c.450G>A (p.Met150Ile) c.372G>A (p.Met124Ile) c.215-2120G>A (n.215-2120G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264356A= | CA1381535063 | POU1F1 | c.449T= (p.Met150=) c.371T= (p.Met124=) c.215-2121T= (n.215-2121T=) | |
3 | g.87264356A>C | CA353693786 | POU1F1 | c.449T>G (p.Met150Arg) c.371T>G (p.Met124Arg) c.215-2121T>G (n.215-2121T>G) | |
3 | g.87264356A>G | CA353693784 | POU1F1 | c.449T>C (p.Met150Thr) c.371T>C (p.Met124Thr) c.215-2121T>C (n.215-2121T>C) | dbSNP gnomAD v4 |
3 | g.87264356A>T | CA353693782 | POU1F1 | c.449T>A (p.Met150Lys) c.371T>A (p.Met124Lys) c.215-2121T>A (n.215-2121T>A) | |
3 | g.87264357T>A | CA353693788 | POU1F1 | c.448A>T (p.Met150Leu) c.370A>T (p.Met124Leu) c.215-2122A>T (n.215-2122A>T) | |
3 | g.87264357T>C | CA2501222 | POU1F1 | c.448A>G (p.Met150Val) c.370A>G (p.Met124Val) c.215-2122A>G (n.215-2122A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264357T>G | CA353693791 | POU1F1 | c.448A>C (p.Met150Leu) c.370A>C (p.Met124Leu) c.215-2122A>C (n.215-2122A>C) | gnomAD v4 |
3 | g.87264357T= | CA1381535068 | POU1F1 | c.448A= (p.Met150=) c.370A= (p.Met124=) c.215-2122A= (n.215-2122A=) | |
3 | g.87264358G>A | CA434627085 | POU1F1 | c.447C>T (p.Asp149=) c.369C>T (p.Asp123=) c.215-2123C>T (n.215-2123C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.87264358G>C | CA353693793 | POU1F1 | c.447C>G (p.Asp149Glu) c.369C>G (p.Asp123Glu) c.215-2123C>G (n.215-2123C>G) | |
3 | g.87264358G= | CA1381535073 | POU1F1 | c.447C= (p.Asp149=) c.369C= (p.Asp123=) c.215-2123C= (n.215-2123C=) | |
3 | g.87264358G>T | CA353693794 | POU1F1 | c.447C>A (p.Asp149Glu) c.369C>A (p.Asp123Glu) c.215-2123C>A (n.215-2123C>A) | |
3 | g.87264359T>A | CA353693797 | POU1F1 | c.446A>T (p.Asp149Val) c.368A>T (p.Asp123Val) c.215-2124A>T (n.215-2124A>T) | |
3 | g.87264359T>C | CA353693799 | POU1F1 | c.446A>G (p.Asp149Gly) c.368A>G (p.Asp123Gly) c.215-2124A>G (n.215-2124A>G) | |
3 | g.87264359T>G | CA353693800 | POU1F1 | c.446A>C (p.Asp149Ala) c.368A>C (p.Asp123Ala) c.215-2124A>C (n.215-2124A>C) | |
3 | g.87264360C>A | CA353693801 | POU1F1 | c.445G>T (p.Asp149Tyr) c.367G>T (p.Asp123Tyr) c.215-2125G>T (n.215-2125G>T) | |
3 | g.87264360C= | CA1381535076 | POU1F1 | c.445G= (p.Asp149=) c.367G= (p.Asp123=) c.215-2125G= (n.215-2125G=) | |
3 | g.87264360C>G | CA353693803 | POU1F1 | c.445G>C (p.Asp149His) c.367G>C (p.Asp123His) c.215-2125G>C (n.215-2125G>C) | |
3 | g.87264360C>T | CA353693805 | POU1F1 | c.445G>A (p.Asp149Asn) c.367G>A (p.Asp123Asn) c.215-2125G>A (n.215-2125G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264361T>A | CA434627093 | POU1F1 | c.444A>T (p.Ile148=) c.366A>T (p.Ile122=) c.215-2126A>T (n.215-2126A>T) | dbSNP |
3 | g.87264361T>C | CA353693807 | POU1F1 | c.444A>G (p.Ile148Met) c.366A>G (p.Ile122Met) c.215-2126A>G (n.215-2126A>G) | |
3 | g.87264361T>G | CA434627091 | POU1F1 | c.444A>C (p.Ile148=) c.366A>C (p.Ile122=) c.215-2126A>C (n.215-2126A>C) | |
3 | g.87264361T= | CA1381535080 | POU1F1 | c.444A= (p.Ile148=) c.366A= (p.Ile122=) c.215-2126A= (n.215-2126A=) | |
3 | g.87264362A= | CA1381535082 | POU1F1 | c.443T= (p.Ile148=) c.365T= (p.Ile122=) c.215-2127T= (n.215-2127T=) | |
3 | g.87264362A>C | CA353693811 | POU1F1 | c.443T>G (p.Ile148Arg) c.365T>G (p.Ile122Arg) c.215-2127T>G (n.215-2127T>G) | |
3 | g.87264362A>G | CA2501223 | POU1F1 | c.443T>C (p.Ile148Thr) c.365T>C (p.Ile122Thr) c.215-2127T>C (n.215-2127T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264362A>T | CA353693809 | POU1F1 | c.443T>A (p.Ile148Lys) c.365T>A (p.Ile122Lys) c.215-2127T>A (n.215-2127T>A) | |
3 | g.87264363T>A | CA353693814 | POU1F1 | c.442A>T (p.Ile148Leu) c.364A>T (p.Ile122Leu) c.215-2128A>T (n.215-2128A>T) | |
3 | g.87264363T>C | CA353693816 | POU1F1 | c.442A>G (p.Ile148Val) c.364A>G (p.Ile122Val) c.215-2128A>G (n.215-2128A>G) | dbSNP gnomAD v4 |
3 | g.87264363T>G | CA353693818 | POU1F1 | c.442A>C (p.Ile148Leu) c.364A>C (p.Ile122Leu) c.215-2128A>C (n.215-2128A>C) | |
3 | g.87264363T= | CA1381535084 | POU1F1 | c.442A= (p.Ile148=) c.364A= (p.Ile122=) c.215-2128A= (n.215-2128A=) | |
3 | g.87264364T>A | CA434627100 | POU1F1 | c.441A>T (p.Pro147=) c.363A>T (p.Pro121=) c.215-2129A>T (n.215-2129A>T) | gnomAD v4 |
3 | g.87264364T>C | CA434627103 | POU1F1 | c.441A>G (p.Pro147=) c.363A>G (p.Pro121=) c.215-2129A>G (n.215-2129A>G) | |
3 | g.87264364T>G | CA434627101 | POU1F1 | c.441A>C (p.Pro147=) c.363A>C (p.Pro121=) c.215-2129A>C (n.215-2129A>C) | |
3 | g.87264365G>A | CA353693821 | POU1F1 | c.440C>T (p.Pro147Leu) c.362C>T (p.Pro121Leu) c.215-2130C>T (n.215-2130C>T) | gnomAD v4 |
3 | g.87264365G>C | CA353693823 | POU1F1 | c.440C>G (p.Pro147Arg) c.362C>G (p.Pro121Arg) c.215-2130C>G (n.215-2130C>G) | |
3 | g.87264365G>T | CA353693824 | POU1F1 | c.440C>A (p.Pro147Gln) c.362C>A (p.Pro121Gln) c.215-2130C>A (n.215-2130C>A) | |
3 | g.87264366G>A | CA353693829 | POU1F1 | c.439C>T (p.Pro147Ser) c.361C>T (p.Pro121Ser) c.215-2131C>T (n.215-2131C>T) | gnomAD v4 |
3 | g.87264366G>C | CA353693826 | POU1F1 | c.439C>G (p.Pro147Ala) c.361C>G (p.Pro121Ala) c.215-2131C>G (n.215-2131C>G) | |
3 | g.87264366G>T | CA353693828 | POU1F1 | c.439C>A (p.Pro147Thr) c.361C>A (p.Pro121Thr) c.215-2131C>A (n.215-2131C>A) | |
3 | g.87264367C>A | CA353693831 | POU1F1 | c.438G>T (p.Glu146Asp) c.360G>T (p.Glu120Asp) c.215-2132G>T (n.215-2132G>T) | dbSNP |
3 | g.87264367C= | CA1381535086 | POU1F1 | c.438G= (p.Glu146=) c.360G= (p.Glu120=) c.215-2132G= (n.215-2132G=) | |
3 | g.87264367C>G | CA353693833 | POU1F1 | c.438G>C (p.Glu146Asp) c.360G>C (p.Glu120Asp) c.215-2132G>C (n.215-2132G>C) | |
3 | g.87264367C>T | CA434627119 | POU1F1 | c.438G>A (p.Glu146=) c.360G>A (p.Glu120=) c.215-2132G>A (n.215-2132G>A) | gnomAD v4 |
3 | g.87264368T>A | CA353693834 | POU1F1 | c.437A>T (p.Glu146Val) c.359A>T (p.Glu120Val) c.215-2133A>T (n.215-2133A>T) | |
3 | g.87264368T>C | CA353693835 | POU1F1 | c.437A>G (p.Glu146Gly) c.359A>G (p.Glu120Gly) c.215-2133A>G (n.215-2133A>G) | dbSNP |
3 | g.87264368T>G | CA353693836 | POU1F1 | c.437A>C (p.Glu146Ala) c.359A>C (p.Glu120Ala) c.215-2133A>C (n.215-2133A>C) | gnomAD v4 |
3 | g.87264368T= | CA1381535089 | POU1F1 | c.437A= (p.Glu146=) c.359A= (p.Glu120=) c.215-2133A= (n.215-2133A=) | |
3 | g.87264369C>A | CA353693837 | POU1F1 | c.436G>T (p.Glu146Ter) c.358G>T (p.Glu120Ter) c.215-2134G>T (n.215-2134G>T) | |
3 | g.87264369C>G | CA353693839 | POU1F1 | c.436G>C (p.Glu146Gln) c.358G>C (p.Glu120Gln) c.215-2134G>C (n.215-2134G>C) | |
3 | g.87264369C>T | CA353693838 | POU1F1 | c.436G>A (p.Glu146Lys) c.358G>A (p.Glu120Lys) c.215-2134G>A (n.215-2134G>A) | |
3 | g.87264370T>A | CA353693840 | POU1F1 | c.435A>T (p.Glu145Asp) c.357A>T (p.Glu119Asp) c.215-2135A>T (n.215-2135A>T) | |
3 | g.87264370T>C | CA434627131 | POU1F1 | c.435A>G (p.Glu145=) c.357A>G (p.Glu119=) c.215-2135A>G (n.215-2135A>G) | |
3 | g.87264370T>G | CA353693841 | POU1F1 | c.435A>C (p.Glu145Asp) c.357A>C (p.Glu119Asp) c.215-2135A>C (n.215-2135A>C) | gnomAD v4 |
3 | g.87264371T>A | CA353693842 | POU1F1 | c.434A>T (p.Glu145Val) c.356A>T (p.Glu119Val) c.215-2136A>T (n.215-2136A>T) | |
3 | g.87264371T>C | CA353693843 | POU1F1 | c.434A>G (p.Glu145Gly) c.356A>G (p.Glu119Gly) c.215-2136A>G (n.215-2136A>G) | |
3 | g.87264371T>G | CA353693846 | POU1F1 | c.434A>C (p.Glu145Ala) c.356A>C (p.Glu119Ala) c.215-2136A>C (n.215-2136A>C) | |
3 | g.87264372C>A | CA353693847 | POU1F1 | c.433G>T (p.Glu145Ter) c.355G>T (p.Glu119Ter) c.215-2137G>T (n.215-2137G>T) | |
3 | g.87264372C>G | CA353693848 | POU1F1 | c.433G>C (p.Glu145Gln) c.355G>C (p.Glu119Gln) c.215-2137G>C (n.215-2137G>C) | |
3 | g.87264372C>T | CA353693849 | POU1F1 | c.433G>A (p.Glu145Lys) c.355G>A (p.Glu119Lys) c.215-2137G>A (n.215-2137G>A) | |
3 | g.87264373C>A | CA434627139 | POU1F1 | c.432G>T (p.Val144=) c.354G>T (p.Val118=) c.215-2138G>T (n.215-2138G>T) | |
3 | g.87264373C= | CA1381535092 | POU1F1 | c.432G= (p.Val144=) c.354G= (p.Val118=) c.215-2138G= (n.215-2138G=) | |
3 | g.87264373C>G | CA434627140 | POU1F1 | c.432G>C (p.Val144=) c.354G>C (p.Val118=) c.215-2138G>C (n.215-2138G>C) | |
3 | g.87264373C>T | CA434627141 | POU1F1 | c.432G>A (p.Val144=) c.354G>A (p.Val118=) c.215-2138G>A (n.215-2138G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.87264374A>C | CA353693851 | POU1F1 | c.431T>G (p.Val144Gly) c.353T>G (p.Val118Gly) c.215-2139T>G (n.215-2139T>G) | |
3 | g.87264374A>G | CA353693853 | POU1F1 | c.431T>C (p.Val144Ala) c.353T>C (p.Val118Ala) c.215-2139T>C (n.215-2139T>C) | |
3 | g.87264374A>T | CA353693855 | POU1F1 | c.431T>A (p.Val144Glu) c.353T>A (p.Val118Glu) c.215-2139T>A (n.215-2139T>A) | |
3 | g.87264375C>A | CA353693857 | POU1F1 | c.430G>T (p.Val144Leu) c.352G>T (p.Val118Leu) c.215-2140G>T (n.215-2140G>T) | |
3 | g.87264375C>G | CA353693861 | POU1F1 | c.430G>C (p.Val144Leu) c.352G>C (p.Val118Leu) c.215-2140G>C (n.215-2140G>C) | |
3 | g.87264375C>T | CA353693859 | POU1F1 | c.430G>A (p.Val144Met) c.352G>A (p.Val118Met) c.215-2140G>A (n.215-2140G>A) | |
3 | g.87264376C>A | CA353693862 | POU1F1 | c.429G>T (p.Leu143Phe) c.351G>T (p.Leu117Phe) c.215-2141G>T (n.215-2141G>T) | |
3 | g.87264376C= | CA1381535096 | POU1F1 | c.429G= (p.Leu143=) c.351G= (p.Leu117=) c.215-2141G= (n.215-2141G=) | |
3 | g.87264376C>G | CA2501225 | POU1F1 | c.429G>C (p.Leu143Phe) c.351G>C (p.Leu117Phe) c.215-2141G>C (n.215-2141G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264376C>T | CA2501224 | POU1F1 | c.429G>A (p.Leu143=) c.351G>A (p.Leu117=) c.215-2141G>A (n.215-2141G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264377A>C | CA353693868 | POU1F1 | c.428T>G (p.Leu143Trp) c.350T>G (p.Leu117Trp) c.215-2142T>G (n.215-2142T>G) | |
3 | g.87264377A>G | CA353693872 | POU1F1 | c.428T>C (p.Leu143Ser) c.350T>C (p.Leu117Ser) c.215-2142T>C (n.215-2142T>C) | gnomAD v4 |
3 | g.87264377A>T | CA353693870 | POU1F1 | c.428T>A (p.Leu143Ter) c.350T>A (p.Leu117Ter) c.215-2142T>A (n.215-2142T>A) | |
3 | g.87264378A>C | CA353693874 | POU1F1 | c.427T>G (p.Leu143Val) c.349T>G (p.Leu117Val) c.215-2143T>G (n.215-2143T>G) | |
3 | g.87264378A>G | CA434627158 | POU1F1 | c.427T>C (p.Leu143=) c.349T>C (p.Leu117=) c.215-2143T>C (n.215-2143T>C) | gnomAD v4 |
3 | g.87264378A>T | CA353693877 | POU1F1 | c.427T>A (p.Leu143Met) c.349T>A (p.Leu117Met) c.215-2143T>A (n.215-2143T>A) | COSMIC COSMIC |
3 | g.87264379T>A | CA353693882 | POU1F1 | c.426A>T (p.Lys142Asn) c.348A>T (p.Lys116Asn) c.215-2144A>T (n.215-2144A>T) | COSMIC COSMIC |
3 | g.87264379T>C | CA434627161 | POU1F1 | c.426A>G (p.Lys142=) c.348A>G (p.Lys116=) c.215-2144A>G (n.215-2144A>G) | |
3 | g.87264379T>G | CA353693884 | POU1F1 | c.426A>C (p.Lys142Asn) c.348A>C (p.Lys116Asn) c.215-2144A>C (n.215-2144A>C) | |
3 | g.87264380T>A | CA353693887 | POU1F1 | c.425A>T (p.Lys142Ile) c.347A>T (p.Lys116Ile) c.215-2145A>T (n.215-2145A>T) | |
3 | g.87264380T>C | CA353693891 | POU1F1 | c.425A>G (p.Lys142Arg) c.347A>G (p.Lys116Arg) c.215-2145A>G (n.215-2145A>G) | |
3 | g.87264380T>G | CA353693888 | POU1F1 | c.425A>C (p.Lys142Thr) c.347A>C (p.Lys116Thr) c.215-2145A>C (n.215-2145A>C) | |
3 | g.87264381T>A | CA353693894 | POU1F1 | c.424A>T (p.Lys142Ter) c.346A>T (p.Lys116Ter) c.215-2146A>T (n.215-2146A>T) | |
3 | g.87264381T>C | CA353693903 | POU1F1 | c.424A>G (p.Lys142Glu) c.346A>G (p.Lys116Glu) c.215-2146A>G (n.215-2146A>G) | |
3 | g.87264381T>G | CA353693897 | POU1F1 | c.424A>C (p.Lys142Gln) c.346A>C (p.Lys116Gln) c.215-2146A>C (n.215-2146A>C) | |
3 | g.87264382A>C | CA353693905 | POU1F1 | c.423T>G (p.Ser141Arg) c.345T>G (p.Ser115Arg) c.215-2147T>G (n.215-2147T>G) | |
3 | g.87264382A>G | CA434627166 | POU1F1 | c.423T>C (p.Ser141=) c.345T>C (p.Ser115=) c.215-2147T>C (n.215-2147T>C) | |
3 | g.87264382A>T | CA353693907 | POU1F1 | c.423T>A (p.Ser141Arg) c.345T>A (p.Ser115Arg) c.215-2147T>A (n.215-2147T>A) | |
3 | g.87264383C>A | CA353693910 | POU1F1 | c.422G>T (p.Ser141Ile) c.344G>T (p.Ser115Ile) c.215-2148G>T (n.215-2148G>T) | |
3 | g.87264383C>G | CA353693912 | POU1F1 | c.422G>C (p.Ser141Thr) c.344G>C (p.Ser115Thr) c.215-2148G>C (n.215-2148G>C) | gnomAD v4 |
3 | g.87264383C>T | CA353693914 | POU1F1 | c.422G>A (p.Ser141Asn) c.344G>A (p.Ser115Asn) c.215-2148G>A (n.215-2148G>A) | |
3 | g.87264384T>A | CA353693916 | POU1F1 | c.421A>T (p.Ser141Cys) c.343A>T (p.Ser115Cys) c.215-2149A>T (n.215-2149A>T) | |
3 | g.87264384T>C | CA353693918 | POU1F1 | c.421A>G (p.Ser141Gly) c.343A>G (p.Ser115Gly) c.215-2149A>G (n.215-2149A>G) | |
3 | g.87264384T>G | CA353693921 | POU1F1 | c.421A>C (p.Ser141Arg) c.343A>C (p.Ser115Arg) c.215-2149A>C (n.215-2149A>C) | |
3 | g.87264387del | CA2586972590 | POU1F1 | c.421del (p.Ser141ValfsTer8) c.343del (p.Ser115ValfsTer8) c.215-2149del (n.215-2149del) | |
3 | g.87264385T>A | CA353693922 | POU1F1 | c.420A>T (p.Lys140Asn) c.342A>T (p.Lys114Asn) c.215-2150A>T (n.215-2150A>T) | |
3 | g.87264385T>C | CA434627177 | POU1F1 | c.420A>G (p.Lys140=) c.342A>G (p.Lys114=) c.215-2150A>G (n.215-2150A>G) | ClinVar dbSNP |
3 | g.87264385T>G | CA353693923 | POU1F1 | c.420A>C (p.Lys140Asn) c.342A>C (p.Lys114Asn) c.215-2150A>C (n.215-2150A>C) | |
3 | g.87264385T= | CA1381535101 | POU1F1 | c.420A= (p.Lys140=) c.342A= (p.Lys114=) c.215-2150A= (n.215-2150A=) | |
3 | g.87264386T>A | CA353693925 | POU1F1 | c.419A>T (p.Lys140Ile) c.341A>T (p.Lys114Ile) c.215-2151A>T (n.215-2151A>T) | |
3 | g.87264386T>C | CA353693928 | POU1F1 | c.419A>G (p.Lys140Arg) c.341A>G (p.Lys114Arg) c.215-2151A>G (n.215-2151A>G) | gnomAD v4 |
3 | g.87264386T>G | CA353693930 | POU1F1 | c.419A>C (p.Lys140Thr) c.341A>C (p.Lys114Thr) c.215-2151A>C (n.215-2151A>C) | |
3 | g.87264387T>A | CA353693936 | POU1F1 | c.418A>T (p.Lys140Ter) c.340A>T (p.Lys114Ter) c.215-2152A>T (n.215-2152A>T) | |
3 | g.87264387T>C | CA353693932 | POU1F1 | c.418A>G (p.Lys140Glu) c.340A>G (p.Lys114Glu) c.215-2152A>G (n.215-2152A>G) | |
3 | g.87264387T>G | CA353693934 | POU1F1 | c.418A>C (p.Lys140Gln) c.340A>C (p.Lys114Gln) c.215-2152A>C (n.215-2152A>C) | gnomAD v4 |
3 | g.87264388C>A | CA434627081 | POU1F1 | c.417G>T (p.Arg139=) c.339G>T (p.Arg113=) c.215-2153G>T (n.215-2153G>T) | |
3 | g.87264388C>G | CA434627083 | POU1F1 | c.417G>C (p.Arg139=) c.339G>C (p.Arg113=) c.215-2153G>C (n.215-2153G>C) | |
3 | g.87264388C>T | CA434627084 | POU1F1 | c.417G>A (p.Arg139=) c.339G>A (p.Arg113=) c.215-2153G>A (n.215-2153G>A) | ClinVar gnomAD v4 |
3 | g.87264389C>A | CA353693938 | POU1F1 | c.416G>T (p.Arg139Leu) c.338G>T (p.Arg113Leu) c.215-2154G>T (n.215-2154G>T) | |
3 | g.87264389C= | CA1381535107 | POU1F1 | c.416G= (p.Arg139=) c.338G= (p.Arg113=) c.215-2154G= (n.215-2154G=) | |
3 | g.87264389C>G | CA353693940 | POU1F1 | c.416G>C (p.Arg139Pro) c.338G>C (p.Arg113Pro) c.215-2154G>C (n.215-2154G>C) | gnomAD v4 |
3 | g.87264389C>T | CA2501226 | POU1F1 | c.416G>A (p.Arg139Gln) c.338G>A (p.Arg113Gln) c.215-2154G>A (n.215-2154G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.87264390G>A | CA2501227 | POU1F1 | c.415C>T (p.Arg139Trp) c.337C>T (p.Arg113Trp) c.215-2155C>T (n.215-2155C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264390G>C | CA353693941 | POU1F1 | c.415C>G (p.Arg139Gly) c.337C>G (p.Arg113Gly) c.215-2155C>G (n.215-2155C>G) | |
3 | g.87264390G= | CA1381535110 | POU1F1 | c.415C= (p.Arg139=) c.337C= (p.Arg113=) c.215-2155C= (n.215-2155C=) | |
3 | g.87264390G>T | CA434627094 | POU1F1 | c.415C>A (p.Arg139=) c.337C>A (p.Arg113=) c.215-2155C>A (n.215-2155C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.87264391C>A | CA353693943 | POU1F1 | c.414G>T (p.Arg138Ser) c.336G>T (p.Arg112Ser) c.215-2156G>T (n.215-2156G>T) | |
3 | g.87264391C>G | CA353693945 | POU1F1 | c.414G>C (p.Arg138Ser) c.336G>C (p.Arg112Ser) c.215-2156G>C (n.215-2156G>C) | |
3 | g.87264391C>T | CA434627096 | POU1F1 | c.414G>A (p.Arg138=) c.336G>A (p.Arg112=) c.215-2156G>A (n.215-2156G>A) | |
3 | g.87264392C>A | CA353693948 | POU1F1 | c.413G>T (p.Arg138Met) c.335G>T (p.Arg112Met) c.215-2157G>T (n.215-2157G>T) | |
3 | g.87264392C= | CA1381535112 | POU1F1 | c.413G= (p.Arg138=) c.335G= (p.Arg112=) c.215-2157G= (n.215-2157G=) | |
3 | g.87264392C>G | CA353693952 | POU1F1 | c.413G>C (p.Arg138Thr) c.335G>C (p.Arg112Thr) c.215-2157G>C (n.215-2157G>C) | |
3 | g.87264392C>T | CA2501228 | POU1F1 | c.413G>A (p.Arg138Lys) c.335G>A (p.Arg112Lys) c.215-2157G>A (n.215-2157G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.87264393T>A | CA353693957 | POU1F1 | c.412A>T (p.Arg138Trp) c.334A>T (p.Arg112Trp) c.215-2158A>T (n.215-2158A>T) | gnomAD v4 |
3 | g.87264393T>C | CA353693956 | POU1F1 | c.412A>G (p.Arg138Gly) c.334A>G (p.Arg112Gly) c.215-2158A>G (n.215-2158A>G) | |
3 | g.87264393T>G | CA434627107 | POU1F1 | c.412A>C (p.Arg138=) c.334A>C (p.Arg112=) c.215-2158A>C (n.215-2158A>C) | |
3 | g.87264394G>A | CA434627110 | POU1F1 | c.411C>T (p.Leu137=) c.333C>T (p.Leu111=) c.215-2159C>T (n.215-2159C>T) | |
3 | g.87264394G>C | CA434627108 | POU1F1 | c.411C>G (p.Leu137=) c.333C>G (p.Leu111=) c.215-2159C>G (n.215-2159C>G) | |
3 | g.87264394G>T | CA434627109 | POU1F1 | c.411C>A (p.Leu137=) c.333C>A (p.Leu111=) c.215-2159C>A (n.215-2159C>A) |