Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.80591538del | CA2731375680 | ARNT2 | c.1919-30del (n.1919-30del) c.1886-30del (n.1886-30del) c.*217-30del (n.*217-30del) | dbSNP |
15 | g.80591537A= | CA2190489523 | ARNT2 | c.1919-31A= (n.1919-31A=) c.1886-31A= (n.1886-31A=) c.*217-31A= (n.*217-31A=) | |
15 | g.80591537A>G | CA619268026 | ARNT2 | c.1919-31A>G (n.1919-31A>G) c.1886-31A>G (n.1886-31A>G) c.*217-31A>G (n.*217-31A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591539G>A | CA971927762 | ARNT2 | c.1919-29G>A (n.1919-29G>A) c.1886-29G>A (n.1886-29G>A) c.*217-29G>A (n.*217-29G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591539G= | CA2190489525 | ARNT2 | c.1919-29G= (n.1919-29G=) c.1886-29G= (n.1886-29G=) c.*217-29G= (n.*217-29G=) | |
15 | g.80591542A= | CA2190489526 | ARNT2 | c.1919-26A= (n.1919-26A=) c.1886-26A= (n.1886-26A=) c.*217-26A= (n.*217-26A=) | |
15 | g.80591542A>G | CA2190489528 | ARNT2 | c.1919-26A>G (n.1919-26A>G) c.1886-26A>G (n.1886-26A>G) c.*217-26A>G (n.*217-26A>G) | dbSNP |
15 | g.80591543G>A | CA2629889032 | ARNT2 | c.1919-25G>A (n.1919-25G>A) c.1886-25G>A (n.1886-25G>A) c.*217-25G>A (n.*217-25G>A) | gnomAD v4 |
15 | g.80591544T>C | CA7692219 | ARNT2 | c.1919-24T>C (n.1919-24T>C) c.1886-24T>C (n.1886-24T>C) c.*217-24T>C (n.*217-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591544T= | CA2190489531 | ARNT2 | c.1919-24T= (n.1919-24T=) c.1886-24T= (n.1886-24T=) c.*217-24T= (n.*217-24T=) | |
15 | g.80591545G>A | CA7692220 | ARNT2 | c.1919-23G>A (n.1919-23G>A) c.1886-23G>A (n.1886-23G>A) c.*217-23G>A (n.*217-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591545G= | CA2190489533 | ARNT2 | c.1919-23G= (n.1919-23G=) c.1886-23G= (n.1886-23G=) c.*217-23G= (n.*217-23G=) | |
15 | g.80591547C>A | CA2629889033 | ARNT2 | c.1919-21C>A (n.1919-21C>A) c.1886-21C>A (n.1886-21C>A) c.*217-21C>A (n.*217-21C>A) | gnomAD v4 |
15 | g.80591547C= | CA2190489541 | ARNT2 | c.1919-21C= (n.1919-21C=) c.1886-21C= (n.1886-21C=) c.*217-21C= (n.*217-21C=) | |
15 | g.80591547C>G | CA7692221 | ARNT2 | c.1919-21C>G (n.1919-21C>G) c.1886-21C>G (n.1886-21C>G) c.*217-21C>G (n.*217-21C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591547C>T | CA716125815 | ARNT2 | c.1919-21C>T (n.1919-21C>T) c.1886-21C>T (n.1886-21C>T) c.*217-21C>T (n.*217-21C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591548C>G | CA2629889034 | ARNT2 | c.1919-20C>G (n.1919-20C>G) c.1886-20C>G (n.1886-20C>G) c.*217-20C>G (n.*217-20C>G) | gnomAD v4 |
15 | g.80591549T>C | CA7692222 | ARNT2 | c.1919-19T>C (n.1919-19T>C) c.1886-19T>C (n.1886-19T>C) c.*217-19T>C (n.*217-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591549T= | CA2190489543 | ARNT2 | c.1919-19T= (n.1919-19T=) c.1886-19T= (n.1886-19T=) c.*217-19T= (n.*217-19T=) | |
15 | g.80591550G>A | CA971927763 | ARNT2 | c.1919-18G>A (n.1919-18G>A) c.1886-18G>A (n.1886-18G>A) c.*217-18G>A (n.*217-18G>A) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591550G>C | CA2500679890 | ARNT2 | c.1919-18G>C (n.1919-18G>C) c.1886-18G>C (n.1886-18G>C) c.*217-18G>C (n.*217-18G>C) | |
15 | g.80591550G= | CA2190489546 | ARNT2 | c.1919-18G= (n.1919-18G=) c.1886-18G= (n.1886-18G=) c.*217-18G= (n.*217-18G=) | |
15 | g.80591551T>G | CA2629889035 | ARNT2 | c.1919-17T>G (n.1919-17T>G) c.1886-17T>G (n.1886-17T>G) c.*217-17T>G (n.*217-17T>G) | gnomAD v4 |
15 | g.80591552G>A | CA619268028 | ARNT2 | c.1919-16G>A (n.1919-16G>A) c.1886-16G>A (n.1886-16G>A) c.*217-16G>A (n.*217-16G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591552G= | CA2190489548 | ARNT2 | c.1919-16G= (n.1919-16G=) c.1886-16G= (n.1886-16G=) c.*217-16G= (n.*217-16G=) | |
15 | g.80591553T>C | CA2575810399 | ARNT2 | c.1919-15T>C (n.1919-15T>C) c.1886-15T>C (n.1886-15T>C) c.*217-15T>C (n.*217-15T>C) | gnomAD v4 |
15 | g.80591554G>A | CA619268029 | ARNT2 | c.1919-14G>A (n.1919-14G>A) c.1886-14G>A (n.1886-14G>A) c.*217-14G>A (n.*217-14G>A) | dbSNP gnomAD v2 |
15 | g.80591554G= | CA2190489551 | ARNT2 | c.1919-14G= (n.1919-14G=) c.1886-14G= (n.1886-14G=) c.*217-14G= (n.*217-14G=) | |
15 | g.80591556del | CA2629889036 | ARNT2 | c.1919-12del (n.1919-12del) c.1886-12del (n.1886-12del) c.*217-12del (n.*217-12del) | gnomAD v4 |
15 | g.80591556C>A | CA2629889037 | ARNT2 | c.1919-12C>A (n.1919-12C>A) c.1886-12C>A (n.1886-12C>A) c.*217-12C>A (n.*217-12C>A) | gnomAD v4 |
15 | g.80591556C= | CA2190489554 | ARNT2 | c.1919-12C= (n.1919-12C=) c.1886-12C= (n.1886-12C=) c.*217-12C= (n.*217-12C=) | |
15 | g.80591556C>G | CA7692223 | ARNT2 | c.1919-12C>G (n.1919-12C>G) c.1886-12C>G (n.1886-12C>G) c.*217-12C>G (n.*217-12C>G) | dbSNP ExAC |
15 | g.80591556C>T | CA619268030 | ARNT2 | c.1919-12C>T (n.1919-12C>T) c.1886-12C>T (n.1886-12C>T) c.*217-12C>T (n.*217-12C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591557G>A | CA7692224 | ARNT2 | c.1919-11G>A (n.1919-11G>A) c.1886-11G>A (n.1886-11G>A) c.*217-11G>A (n.*217-11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591557G>C | CA2629889038 | ARNT2 | c.1919-11G>C (n.1919-11G>C) c.1886-11G>C (n.1886-11G>C) c.*217-11G>C (n.*217-11G>C) | gnomAD v4 |
15 | g.80591557G= | CA2190489558 | ARNT2 | c.1919-11G= (n.1919-11G=) c.1886-11G= (n.1886-11G=) c.*217-11G= (n.*217-11G=) | |
15 | g.80591558A= | CA2190489560 | ARNT2 | c.1919-10A= (n.1919-10A=) c.1886-10A= (n.1886-10A=) c.*217-10A= (n.*217-10A=) | |
15 | g.80591558A>G | CA2190489561 | ARNT2 | c.1919-10A>G (n.1919-10A>G) c.1886-10A>G (n.1886-10A>G) c.*217-10A>G (n.*217-10A>G) | dbSNP |
15 | g.80591559A>C | CA2575810400 | ARNT2 | c.1919-9A>C (n.1919-9A>C) c.1886-9A>C (n.1886-9A>C) c.*217-9A>C (n.*217-9A>C) | |
15 | g.80591560T>A | CA2731272906 | ARNT2 | c.1919-8T>A (n.1919-8T>A) c.1886-8T>A (n.1886-8T>A) c.*217-8T>A (n.*217-8T>A) | dbSNP |
15 | g.80591560T>C | CA619268032 | ARNT2 | c.1919-8T>C (n.1919-8T>C) c.1886-8T>C (n.1886-8T>C) c.*217-8T>C (n.*217-8T>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591560T= | CA2190489562 | ARNT2 | c.1919-8T= (n.1919-8T=) c.1886-8T= (n.1886-8T=) c.*217-8T= (n.*217-8T=) | |
15 | g.80591562T>C | CA716125838 | ARNT2 | c.1919-6T>C (n.1919-6T>C) c.1886-6T>C (n.1886-6T>C) c.*217-6T>C (n.*217-6T>C) | dbSNP |
15 | g.80591562T= | CA2190489564 | ARNT2 | c.1919-6T= (n.1919-6T=) c.1886-6T= (n.1886-6T=) c.*217-6T= (n.*217-6T=) | |
15 | g.80591565C>T | CA2629889039 | ARNT2 | c.1919-3C>T (n.1919-3C>T) c.1886-3C>T (n.1886-3C>T) c.*217-3C>T (n.*217-3C>T) | gnomAD v4 |
15 | g.80591566A>C | CA393624677 | ARNT2 | c.1919-2A>C (n.1919-2A>C) c.1886-2A>C (n.1886-2A>C) c.*217-2A>C (n.*217-2A>C) | |
15 | g.80591566A>G | CA393624678 | ARNT2 | c.1919-2A>G (n.1919-2A>G) c.1886-2A>G (n.1886-2A>G) c.*217-2A>G (n.*217-2A>G) | |
15 | g.80591566A>T | CA393624679 | ARNT2 | c.1919-2A>T (n.1919-2A>T) c.1886-2A>T (n.1886-2A>T) c.*217-2A>T (n.*217-2A>T) | |
15 | g.80591567G>A | CA393624680 | ARNT2 | c.1919-1G>A (n.1919-1G>A) c.1886-1G>A (n.1886-1G>A) c.*217-1G>A (n.*217-1G>A) | |
15 | g.80591567G>C | CA393624681 | ARNT2 | c.1919-1G>C (n.1919-1G>C) c.1886-1G>C (n.1886-1G>C) c.*217-1G>C (n.*217-1G>C) | |
15 | g.80591567G>T | CA393624682 | ARNT2 | c.1919-1G>T (n.1919-1G>T) c.1886-1G>T (n.1886-1G>T) c.*217-1G>T (n.*217-1G>T) | |
15 | g.80591568C>A | CA393624685 | ARNT2 | c.1919C>A (p.Ala640Asp) c.1886C>A (p.Ala629Asp) c.*217C>A (n.*217C>A) | |
15 | g.80591568C>G | CA393624683 | ARNT2 | c.1919C>G (p.Ala640Gly) c.1886C>G (p.Ala629Gly) c.*217C>G (n.*217C>G) | |
15 | g.80591568C>T | CA393624684 | ARNT2 | c.1919C>T (p.Ala640Val) c.1886C>T (p.Ala629Val) c.*217C>T (n.*217C>T) | |
15 | g.80591569T>A | CA491688563 | ARNT2 | c.1920T>A (p.Ala640=) c.1887T>A (p.Ala629=) c.*218T>A (n.*218T>A) | |
15 | g.80591569T>C | CA491688565 | ARNT2 | c.1920T>C (p.Ala640=) c.1887T>C (p.Ala629=) c.*218T>C (n.*218T>C) | gnomAD v4 |
15 | g.80591569T>G | CA491688568 | ARNT2 | c.1920T>G (p.Ala640=) c.1887T>G (p.Ala629=) c.*218T>G (n.*218T>G) | |
15 | g.80591570G>A | CA393624686 | ARNT2 | c.1921G>A (p.Glu641Lys) c.1888G>A (p.Glu630Lys) c.*219G>A (n.*219G>A) | gnomAD v4 COSMIC |
15 | g.80591570G>C | CA393624687 | ARNT2 | c.1921G>C (p.Glu641Gln) c.1888G>C (p.Glu630Gln) c.*219G>C (n.*219G>C) | |
15 | g.80591570G>T | CA393624688 | ARNT2 | c.1921G>T (p.Glu641Ter) c.1888G>T (p.Glu630Ter) c.*219G>T (n.*219G>T) | |
15 | g.80591571A>C | CA393624689 | ARNT2 | c.1922A>C (p.Glu641Ala) c.1889A>C (p.Glu630Ala) c.*220A>C (n.*220A>C) | COSMIC |
15 | g.80591571A>G | CA393624690 | ARNT2 | c.1922A>G (p.Glu641Gly) c.1889A>G (p.Glu630Gly) c.*220A>G (n.*220A>G) | |
15 | g.80591571A>T | CA393624691 | ARNT2 | c.1922A>T (p.Glu641Val) c.1889A>T (p.Glu630Val) c.*220A>T (n.*220A>T) | |
15 | g.80591572A>C | CA393624692 | ARNT2 | c.1923A>C (p.Glu641Asp) c.1890A>C (p.Glu630Asp) c.*221A>C (n.*221A>C) | |
15 | g.80591572A>G | CA491688586 | ARNT2 | c.1923A>G (p.Glu641=) c.1890A>G (p.Glu630=) c.*221A>G (n.*221A>G) | |
15 | g.80591572A>T | CA393624693 | ARNT2 | c.1923A>T (p.Glu641Asp) c.1890A>T (p.Glu630Asp) c.*221A>T (n.*221A>T) | |
15 | g.80591573A= | CA2190489569 | ARNT2 | c.1924A= (p.Ser642=) c.1891A= (p.Ser631=) c.*222A= (n.*222A=) | |
15 | g.80591573A>C | CA393624694 | ARNT2 | c.1924A>C (p.Ser642Arg) c.1891A>C (p.Ser631Arg) c.*222A>C (n.*222A>C) | |
15 | g.80591573A>G | CA7692225 | ARNT2 | c.1924A>G (p.Ser642Gly) c.1891A>G (p.Ser631Gly) c.*222A>G (n.*222A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591573A>T | CA393624695 | ARNT2 | c.1924A>T (p.Ser642Cys) c.1891A>T (p.Ser631Cys) c.*222A>T (n.*222A>T) | |
15 | g.80591574G>A | CA393624698 | ARNT2 | c.1925G>A (p.Ser642Asn) c.1892G>A (p.Ser631Asn) c.*223G>A (n.*223G>A) | |
15 | g.80591574G>C | CA393624697 | ARNT2 | c.1925G>C (p.Ser642Thr) c.1892G>C (p.Ser631Thr) c.*223G>C (n.*223G>C) | |
15 | g.80591574G>T | CA393624696 | ARNT2 | c.1925G>T (p.Ser642Ile) c.1892G>T (p.Ser631Ile) c.*223G>T (n.*223G>T) | |
15 | g.80591575T>A | CA393624699 | ARNT2 | c.1926T>A (p.Ser642Arg) c.1893T>A (p.Ser631Arg) c.*224T>A (n.*224T>A) | |
15 | g.80591575T>C | CA7692226 | ARNT2 | c.1926T>C (p.Ser642=) c.1893T>C (p.Ser631=) c.*224T>C (n.*224T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591575T>G | CA393624700 | ARNT2 | c.1926T>G (p.Ser642Arg) c.1893T>G (p.Ser631Arg) c.*224T>G (n.*224T>G) | |
15 | g.80591575T= | CA2190489576 | ARNT2 | c.1926T= (p.Ser642=) c.1893T= (p.Ser631=) c.*224T= (n.*224T=) | |
15 | g.80591576G>A | CA393624701 | ARNT2 | c.1927G>A (p.Gly643Arg) c.1894G>A (p.Gly632Arg) c.*225G>A (n.*225G>A) | |
15 | g.80591576G>C | CA393624702 | ARNT2 | c.1927G>C (p.Gly643Arg) c.1894G>C (p.Gly632Arg) c.*225G>C (n.*225G>C) | |
15 | g.80591576G>T | CA393624703 | ARNT2 | c.1927G>T (p.Gly643Ter) c.1894G>T (p.Gly632Ter) c.*225G>T (n.*225G>T) | |
15 | g.80591577G>A | CA393624704 | ARNT2 | c.1928G>A (p.Gly643Glu) c.1895G>A (p.Gly632Glu) c.*226G>A (n.*226G>A) | gnomAD v4 |
15 | g.80591577G>C | CA393624705 | ARNT2 | c.1928G>C (p.Gly643Ala) c.1895G>C (p.Gly632Ala) c.*226G>C (n.*226G>C) | |
15 | g.80591577G>T | CA393624706 | ARNT2 | c.1928G>T (p.Gly643Val) c.1895G>T (p.Gly632Val) c.*226G>T (n.*226G>T) | |
15 | g.80591578A= | CA2190489582 | ARNT2 | c.1929A= (p.Gly643=) c.1896A= (p.Gly632=) c.*227A= (n.*227A=) | |
15 | g.80591578A>C | CA491688627 | ARNT2 | c.1929A>C (p.Gly643=) c.1896A>C (p.Gly632=) c.*227A>C (n.*227A>C) | |
15 | g.80591578A>G | CA491688625 | ARNT2 | c.1929A>G (p.Gly643=) c.1896A>G (p.Gly632=) c.*227A>G (n.*227A>G) | dbSNP gnomAD v4 |
15 | g.80591578A>T | CA491688623 | ARNT2 | c.1929A>T (p.Gly643=) c.1896A>T (p.Gly632=) c.*227A>T (n.*227A>T) | |
15 | g.80591579C>A | CA393624707 | ARNT2 | c.1930C>A (p.Gln644Lys) c.1897C>A (p.Gln633Lys) c.*228C>A (n.*228C>A) | gnomAD v4 |
15 | g.80591579C>G | CA393624708 | ARNT2 | c.1930C>G (p.Gln644Glu) c.1897C>G (p.Gln633Glu) c.*228C>G (n.*228C>G) | |
15 | g.80591579C>T | CA393624709 | ARNT2 | c.1930C>T (p.Gln644Ter) c.1897C>T (p.Gln633Ter) c.*228C>T (n.*228C>T) | |
15 | g.80591580A= | CA2190489585 | ARNT2 | c.1931A= (p.Gln644=) c.1898A= (p.Gln633=) c.*229A= (n.*229A=) | |
15 | g.80591580A>C | CA393624712 | ARNT2 | c.1931A>C (p.Gln644Pro) c.1898A>C (p.Gln633Pro) c.*229A>C (n.*229A>C) | dbSNP gnomAD v4 |
15 | g.80591580A>G | CA393624711 | ARNT2 | c.1931A>G (p.Gln644Arg) c.1898A>G (p.Gln633Arg) c.*229A>G (n.*229A>G) | gnomAD v4 |
15 | g.80591580A>T | CA393624710 | ARNT2 | c.1931A>T (p.Gln644Leu) c.1898A>T (p.Gln633Leu) c.*229A>T (n.*229A>T) | |
15 | g.80591581A>C | CA393624713 | ARNT2 | c.1932A>C (p.Gln644His) c.1899A>C (p.Gln633His) c.*230A>C (n.*230A>C) | |
15 | g.80591581A>G | CA491688640 | ARNT2 | c.1932A>G (p.Gln644=) c.1899A>G (p.Gln633=) c.*230A>G (n.*230A>G) | |
15 | g.80591581A>T | CA393624714 | ARNT2 | c.1932A>T (p.Gln644His) c.1899A>T (p.Gln633His) c.*230A>T (n.*230A>T) | |
15 | g.80591582A>C | CA393624715 | ARNT2 | c.1933A>C (p.Ser645Arg) c.1900A>C (p.Ser634Arg) c.*231A>C (n.*231A>C) | |
15 | g.80591582A>G | CA393624716 | ARNT2 | c.1933A>G (p.Ser645Gly) c.1900A>G (p.Ser634Gly) c.*231A>G (n.*231A>G) | |
15 | g.80591582A>T | CA393624717 | ARNT2 | c.1933A>T (p.Ser645Cys) c.1900A>T (p.Ser634Cys) c.*231A>T (n.*231A>T) | |
15 | g.80591583G>A | CA393624718 | ARNT2 | c.1934G>A (p.Ser645Asn) c.1901G>A (p.Ser634Asn) c.*232G>A (n.*232G>A) | |
15 | g.80591583G>C | CA393624719 | ARNT2 | c.1934G>C (p.Ser645Thr) c.1901G>C (p.Ser634Thr) c.*232G>C (n.*232G>C) | |
15 | g.80591583G>T | CA393624720 | ARNT2 | c.1934G>T (p.Ser645Ile) c.1901G>T (p.Ser634Ile) c.*232G>T (n.*232G>T) | |
15 | g.80591584T>A | CA393624721 | ARNT2 | c.1935T>A (p.Ser645Arg) c.1902T>A (p.Ser634Arg) c.*233T>A (n.*233T>A) | |
15 | g.80591584T>C | CA491688655 | ARNT2 | c.1935T>C (p.Ser645=) c.1902T>C (p.Ser634=) c.*233T>C (n.*233T>C) | |
15 | g.80591584T>G | CA393624722 | ARNT2 | c.1935T>G (p.Ser645Arg) c.1902T>G (p.Ser634Arg) c.*233T>G (n.*233T>G) | |
15 | g.80591585A= | CA2190489590 | ARNT2 | c.1936A= (p.Ser646=) c.1903A= (p.Ser635=) c.*234A= (n.*234A=) | |
15 | g.80591585A>C | CA393624723 | ARNT2 | c.1936A>C (p.Ser646Arg) c.1903A>C (p.Ser635Arg) c.*234A>C (n.*234A>C) | |
15 | g.80591585A>G | CA393624724 | ARNT2 | c.1936A>G (p.Ser646Gly) c.1903A>G (p.Ser635Gly) c.*234A>G (n.*234A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591585A>T | CA393624725 | ARNT2 | c.1936A>T (p.Ser646Cys) c.1903A>T (p.Ser635Cys) c.*234A>T (n.*234A>T) | |
15 | g.80591586G>A | CA393624727 | ARNT2 | c.1937G>A (p.Ser646Asn) c.1904G>A (p.Ser635Asn) c.*235G>A (n.*235G>A) | |
15 | g.80591586G>C | CA393624728 | ARNT2 | c.1937G>C (p.Ser646Thr) c.1904G>C (p.Ser635Thr) c.*235G>C (n.*235G>C) | dbSNP |
15 | g.80591586G= | CA2190489596 | ARNT2 | c.1937G= (p.Ser646=) c.1904G= (p.Ser635=) c.*235G= (n.*235G=) | |
15 | g.80591586G>T | CA393624726 | ARNT2 | c.1937G>T (p.Ser646Ile) c.1904G>T (p.Ser635Ile) c.*235G>T (n.*235G>T) | |
15 | g.80591587C>A | CA393624730 | ARNT2 | c.1938C>A (p.Ser646Arg) c.1905C>A (p.Ser635Arg) c.*236C>A (n.*236C>A) | |
15 | g.80591587C= | CA2190489601 | ARNT2 | c.1938C= (p.Ser646=) c.1905C= (p.Ser635=) c.*236C= (n.*236C=) | |
15 | g.80591587C>G | CA393624729 | ARNT2 | c.1938C>G (p.Ser646Arg) c.1905C>G (p.Ser635Arg) c.*236C>G (n.*236C>G) | |
15 | g.80591587C>T | CA7692227 | ARNT2 | c.1938C>T (p.Ser646=) c.1905C>T (p.Ser635=) c.*236C>T (n.*236C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591588G>A | CA7692228 | ARNT2 | c.1939G>A (p.Gly647Arg) c.1906G>A (p.Gly636Arg) c.*237G>A (n.*237G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591588G>C | CA393624731 | ARNT2 | c.1939G>C (p.Gly647Arg) c.1906G>C (p.Gly636Arg) c.*237G>C (n.*237G>C) | |
15 | g.80591588G= | CA2190489606 | ARNT2 | c.1939G= (p.Gly647=) c.1906G= (p.Gly636=) c.*237G= (n.*237G=) | |
15 | g.80591588G>T | CA393624732 | ARNT2 | c.1939G>T (p.Gly647Trp) c.1906G>T (p.Gly636Trp) c.*237G>T (n.*237G>T) | COSMIC |
15 | g.80591589G>A | CA393624733 | ARNT2 | c.1940G>A (p.Gly647Glu) c.1907G>A (p.Gly636Glu) c.*238G>A (n.*238G>A) | |
15 | g.80591589G>C | CA393624734 | ARNT2 | c.1940G>C (p.Gly647Ala) c.1907G>C (p.Gly636Ala) c.*238G>C (n.*238G>C) | |
15 | g.80591589G>T | CA393624735 | ARNT2 | c.1940G>T (p.Gly647Val) c.1907G>T (p.Gly636Val) c.*238G>T (n.*238G>T) | |
15 | g.80591590G>A | CA491688672 | ARNT2 | c.1941G>A (p.Gly647=) c.1908G>A (p.Gly636=) c.*239G>A (n.*239G>A) | |
15 | g.80591590G>C | CA491688673 | ARNT2 | c.1941G>C (p.Gly647=) c.1908G>C (p.Gly636=) c.*239G>C (n.*239G>C) | |
15 | g.80591590G>T | CA491688674 | ARNT2 | c.1941G>T (p.Gly647=) c.1908G>T (p.Gly636=) c.*239G>T (n.*239G>T) | |
15 | g.80591591C>A | CA393624736 | ARNT2 | c.1942C>A (p.Gln648Lys) c.1909C>A (p.Gln637Lys) c.*240C>A (n.*240C>A) | |
15 | g.80591591C>G | CA393624737 | ARNT2 | c.1942C>G (p.Gln648Glu) c.1909C>G (p.Gln637Glu) c.*240C>G (n.*240C>G) | gnomAD v4 |
15 | g.80591591C>T | CA393624738 | ARNT2 | c.1942C>T (p.Gln648Ter) c.1909C>T (p.Gln637Ter) c.*240C>T (n.*240C>T) | |
15 | g.80591592A>C | CA393624739 | ARNT2 | c.1943A>C (p.Gln648Pro) c.1910A>C (p.Gln637Pro) c.*241A>C (n.*241A>C) | |
15 | g.80591592A>G | CA393624740 | ARNT2 | c.1943A>G (p.Gln648Arg) c.1910A>G (p.Gln637Arg) c.*241A>G (n.*241A>G) | gnomAD v4 |
15 | g.80591592A>T | CA393624741 | ARNT2 | c.1943A>T (p.Gln648Leu) c.1910A>T (p.Gln637Leu) c.*241A>T (n.*241A>T) | |
15 | g.80591593G>A | CA491688676 | ARNT2 | c.1944G>A (p.Gln648=) c.1911G>A (p.Gln637=) c.*242G>A (n.*242G>A) | |
15 | g.80591593G>C | CA393624742 | ARNT2 | c.1944G>C (p.Gln648His) c.1911G>C (p.Gln637His) c.*242G>C (n.*242G>C) | |
15 | g.80591593G= | CA2190489609 | ARNT2 | c.1944G= (p.Gln648=) c.1911G= (p.Gln637=) c.*242G= (n.*242G=) | |
15 | g.80591593G>T | CA7692229 | ARNT2 | c.1944G>T (p.Gln648His) c.1911G>T (p.Gln637His) c.*242G>T (n.*242G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591594T>A | CA393624743 | ARNT2 | c.1945T>A (p.Phe649Ile) c.1912T>A (p.Phe638Ile) c.*243T>A (n.*243T>A) | |
15 | g.80591594T>C | CA393624744 | ARNT2 | c.1945T>C (p.Phe649Leu) c.1912T>C (p.Phe638Leu) c.*243T>C (n.*243T>C) | dbSNP |
15 | g.80591594T>G | CA393624745 | ARNT2 | c.1945T>G (p.Phe649Val) c.1912T>G (p.Phe638Val) c.*243T>G (n.*243T>G) | |
15 | g.80591594T= | CA2190489614 | ARNT2 | c.1945T= (p.Phe649=) c.1912T= (p.Phe638=) c.*243T= (n.*243T=) | |
15 | g.80591595T>A | CA393624746 | ARNT2 | c.1946T>A (p.Phe649Tyr) c.1913T>A (p.Phe638Tyr) c.*244T>A (n.*244T>A) | |
15 | g.80591595T>C | CA393624747 | ARNT2 | c.1946T>C (p.Phe649Ser) c.1913T>C (p.Phe638Ser) c.*244T>C (n.*244T>C) | |
15 | g.80591595T>G | CA393624748 | ARNT2 | c.1946T>G (p.Phe649Cys) c.1913T>G (p.Phe638Cys) c.*244T>G (n.*244T>G) | |
15 | g.80591596C>A | CA393624749 | ARNT2 | c.1947C>A (p.Phe649Leu) c.1914C>A (p.Phe638Leu) c.*245C>A (n.*245C>A) | |
15 | g.80591596C>G | CA393624750 | ARNT2 | c.1947C>G (p.Phe649Leu) c.1914C>G (p.Phe638Leu) c.*245C>G (n.*245C>G) | |
15 | g.80591596C>T | CA491688677 | ARNT2 | c.1947C>T (p.Phe649=) c.1914C>T (p.Phe638=) c.*245C>T (n.*245C>T) | |
15 | g.80591597C>A | CA393624751 | ARNT2 | c.1948C>A (p.Gln650Lys) c.1915C>A (p.Gln639Lys) c.*246C>A (n.*246C>A) | |
15 | g.80591597C>G | CA393624752 | ARNT2 | c.1948C>G (p.Gln650Glu) c.1915C>G (p.Gln639Glu) c.*246C>G (n.*246C>G) | |
15 | g.80591597C>T | CA393624753 | ARNT2 | c.1948C>T (p.Gln650Ter) c.1915C>T (p.Gln639Ter) c.*246C>T (n.*246C>T) | COSMIC |
15 | g.80591598A>C | CA393624754 | ARNT2 | c.1949A>C (p.Gln650Pro) c.1916A>C (p.Gln639Pro) c.*247A>C (n.*247A>C) | |
15 | g.80591598A>G | CA393624755 | ARNT2 | c.1949A>G (p.Gln650Arg) c.1916A>G (p.Gln639Arg) c.*247A>G (n.*247A>G) | |
15 | g.80591598A>T | CA393624756 | ARNT2 | c.1949A>T (p.Gln650Leu) c.1916A>T (p.Gln639Leu) c.*247A>T (n.*247A>T) | |
15 | g.80591599A>C | CA393624757 | ARNT2 | c.1950A>C (p.Gln650His) c.1917A>C (p.Gln639His) c.*248A>C (n.*248A>C) | |
15 | g.80591599A>G | CA491688679 | ARNT2 | c.1950A>G (p.Gln650=) c.1917A>G (p.Gln639=) c.*248A>G (n.*248A>G) | |
15 | g.80591599A>T | CA393624758 | ARNT2 | c.1950A>T (p.Gln650His) c.1917A>T (p.Gln639His) c.*248A>T (n.*248A>T) | |
15 | g.80591600G>A | CA393624759 | ARNT2 | c.1951G>A (p.Gly651Arg) c.1918G>A (p.Gly640Arg) c.*249G>A (n.*249G>A) | |
15 | g.80591600G>C | CA393624760 | ARNT2 | c.1951G>C (p.Gly651Arg) c.1918G>C (p.Gly640Arg) c.*249G>C (n.*249G>C) | |
15 | g.80591600G>T | CA393624761 | ARNT2 | c.1951G>T (p.Gly651Trp) c.1918G>T (p.Gly640Trp) c.*249G>T (n.*249G>T) | |
15 | g.80591601G>A | CA393624762 | ARNT2 | c.1952G>A (p.Gly651Glu) c.1919G>A (p.Gly640Glu) c.*250G>A (n.*250G>A) | |
15 | g.80591601G>C | CA393624763 | ARNT2 | c.1952G>C (p.Gly651Ala) c.1919G>C (p.Gly640Ala) c.*250G>C (n.*250G>C) | |
15 | g.80591601G>T | CA393624764 | ARNT2 | c.1952G>T (p.Gly651Val) c.1919G>T (p.Gly640Val) c.*250G>T (n.*250G>T) | |
15 | g.80591602G>A | CA7692230 | ARNT2 | c.1953G>A (p.Gly651=) c.1920G>A (p.Gly640=) c.*251G>A (n.*251G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591602G>C | CA491688680 | ARNT2 | c.1953G>C (p.Gly651=) c.1920G>C (p.Gly640=) c.*251G>C (n.*251G>C) | |
15 | g.80591602G= | CA2190489617 | ARNT2 | c.1953G= (p.Gly651=) c.1920G= (p.Gly640=) c.*251G= (n.*251G=) | |
15 | g.80591602G>T | CA491688681 | ARNT2 | c.1953G>T (p.Gly651=) c.1920G>T (p.Gly640=) c.*251G>T (n.*251G>T) | |
15 | g.80591603C>A | CA491688682 | ARNT2 | c.1954C>A (p.Arg652=) c.1921C>A (p.Arg641=) c.*252C>A (n.*252C>A) | |
15 | g.80591603C= | CA2190489621 | ARNT2 | c.1954C= (p.Arg652=) c.1921C= (p.Arg641=) c.*252C= (n.*252C=) | |
15 | g.80591603C>G | CA393624765 | ARNT2 | c.1954C>G (p.Arg652Gly) c.1921C>G (p.Arg641Gly) c.*252C>G (n.*252C>G) | |
15 | g.80591603C>T | CA7692231 | ARNT2 | c.1954C>T (p.Arg652Trp) c.1921C>T (p.Arg641Trp) c.*252C>T (n.*252C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.80591604G>A | CA7692232 | ARNT2 | c.1955G>A (p.Arg652Gln) c.1922G>A (p.Arg641Gln) c.*253G>A (n.*253G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.80591604G>C | CA393624766 | ARNT2 | c.1955G>C (p.Arg652Pro) c.1922G>C (p.Arg641Pro) c.*253G>C (n.*253G>C) | gnomAD v4 |
15 | g.80591604G= | CA2190489626 | ARNT2 | c.1955G= (p.Arg652=) c.1922G= (p.Arg641=) c.*253G= (n.*253G=) | |
15 | g.80591604G>T | CA393624767 | ARNT2 | c.1955G>T (p.Arg652Leu) c.1922G>T (p.Arg641Leu) c.*253G>T (n.*253G>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591605G>A | CA491688683 | ARNT2 | c.1956G>A (p.Arg652=) c.1923G>A (p.Arg641=) c.*254G>A (n.*254G>A) | |
15 | g.80591605G>C | CA491688684 | ARNT2 | c.1956G>C (p.Arg652=) c.1923G>C (p.Arg641=) c.*254G>C (n.*254G>C) | |
15 | g.80591605G>T | CA491688685 | ARNT2 | c.1956G>T (p.Arg652=) c.1923G>T (p.Arg641=) c.*254G>T (n.*254G>T) | gnomAD v4 |
15 | g.80591606C>A | CA393624768 | ARNT2 | c.1957C>A (p.Pro653Thr) c.1924C>A (p.Pro642Thr) c.*255C>A (n.*255C>A) | |
15 | g.80591606C>G | CA393624769 | ARNT2 | c.1957C>G (p.Pro653Ala) c.1924C>G (p.Pro642Ala) c.*255C>G (n.*255C>G) | |
15 | g.80591606C>T | CA393624770 | ARNT2 | c.1957C>T (p.Pro653Ser) c.1924C>T (p.Pro642Ser) c.*255C>T (n.*255C>T) | |
15 | g.80591608del | CA491688686 | ARNT2 | c.1959del (p.Ser654ArgfsTer?) c.1926del (p.Ser643ArgfsTer?) c.*257del (n.*257del) | COSMIC |
15 | g.80591607C>A | CA393624771 | ARNT2 | c.1958C>A (p.Pro653His) c.1925C>A (p.Pro642His) c.*256C>A (n.*256C>A) | |
15 | g.80591607C>G | CA393624773 | ARNT2 | c.1958C>G (p.Pro653Arg) c.1925C>G (p.Pro642Arg) c.*256C>G (n.*256C>G) | gnomAD v4 |
15 | g.80591607C>T | CA393624772 | ARNT2 | c.1958C>T (p.Pro653Leu) c.1925C>T (p.Pro642Leu) c.*256C>T (n.*256C>T) | |
15 | g.80591608C>A | CA491688687 | ARNT2 | c.1959C>A (p.Pro653=) c.1926C>A (p.Pro642=) c.*257C>A (n.*257C>A) | |
15 | g.80591608C= | CA2190489630 | ARNT2 | c.1959C= (p.Pro653=) c.1926C= (p.Pro642=) c.*257C= (n.*257C=) | |
15 | g.80591608C>G | CA491688688 | ARNT2 | c.1959C>G (p.Pro653=) c.1926C>G (p.Pro642=) c.*257C>G (n.*257C>G) | ClinVar |
15 | g.80591608C>T | CA7692233 | ARNT2 | c.1959C>T (p.Pro653=) c.1926C>T (p.Pro642=) c.*257C>T (n.*257C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591609T>A | CA393624774 | ARNT2 | c.1960T>A (p.Ser654Thr) c.1927T>A (p.Ser643Thr) c.*258T>A (n.*258T>A) | |
15 | g.80591609T>C | CA393624775 | ARNT2 | c.1960T>C (p.Ser654Pro) c.1927T>C (p.Ser643Pro) c.*258T>C (n.*258T>C) | |
15 | g.80591609T>G | CA393624776 | ARNT2 | c.1960T>G (p.Ser654Ala) c.1927T>G (p.Ser643Ala) c.*258T>G (n.*258T>G) | |
15 | g.80591610C>A | CA393624777 | ARNT2 | c.1961C>A (p.Ser654Ter) c.1928C>A (p.Ser643Ter) c.*259C>A (n.*259C>A) | |
15 | g.80591610C= | CA2190489635 | ARNT2 | c.1961C= (p.Ser654=) c.1928C= (p.Ser643=) c.*259C= (n.*259C=) | |
15 | g.80591610C>G | CA393624778 | ARNT2 | c.1961C>G (p.Ser654Trp) c.1928C>G (p.Ser643Trp) c.*259C>G (n.*259C>G) | |
15 | g.80591610C>T | CA393624779 | ARNT2 | c.1961C>T (p.Ser654Leu) c.1928C>T (p.Ser643Leu) c.*259C>T (n.*259C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.80591611G>A | CA7692234 | ARNT2 | c.1962G>A (p.Ser654=) c.1929G>A (p.Ser643=) c.*260G>A (n.*260G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.80591611G>C | CA491688690 | ARNT2 | c.1962G>C (p.Ser654=) c.1929G>C (p.Ser643=) c.*260G>C (n.*260G>C) | |
15 | g.80591611G= | CA2190489648 | ARNT2 | c.1962G= (p.Ser654=) c.1929G= (p.Ser643=) c.*260G= (n.*260G=) | |
15 | g.80591611G>T | CA491688691 | ARNT2 | c.1962G>T (p.Ser654=) c.1929G>T (p.Ser643=) c.*260G>T (n.*260G>T) | |
15 | g.80591612G>A | CA393624780 | ARNT2 | c.1963G>A (p.Glu655Lys) c.1930G>A (p.Glu644Lys) c.*261G>A (n.*261G>A) | |
15 | g.80591612G>C | CA393624781 | ARNT2 | c.1963G>C (p.Glu655Gln) c.1930G>C (p.Glu644Gln) c.*261G>C (n.*261G>C) | |
15 | g.80591612G>T | CA393624782 | ARNT2 | c.1963G>T (p.Glu655Ter) c.1930G>T (p.Glu644Ter) c.*261G>T (n.*261G>T) | |
15 | g.80591613A>C | CA393624783 | ARNT2 | c.1964A>C (p.Glu655Ala) c.1931A>C (p.Glu644Ala) c.*262A>C (n.*262A>C) | |
15 | g.80591613A>G | CA393624785 | ARNT2 | c.1964A>G (p.Glu655Gly) c.1931A>G (p.Glu644Gly) c.*262A>G (n.*262A>G) | |
15 | g.80591613A>T | CA393624784 | ARNT2 | c.1964A>T (p.Glu655Val) c.1931A>T (p.Glu644Val) c.*262A>T (n.*262A>T) | |
15 | g.80591614A= | CA2190489653 | ARNT2 | c.1965A= (p.Glu655=) c.1932A= (p.Glu644=) c.*263A= (n.*263A=) | |
15 | g.80591614A>C | CA393624786 | ARNT2 | c.1965A>C (p.Glu655Asp) c.1932A>C (p.Glu644Asp) c.*263A>C (n.*263A>C) | |
15 | g.80591614A>G | CA491688692 | ARNT2 | c.1965A>G (p.Glu655=) c.1932A>G (p.Glu644=) c.*263A>G (n.*263A>G) | |
15 | g.80591614A>T | CA393624787 | ARNT2 | c.1965A>T (p.Glu655Asp) c.1932A>T (p.Glu644Asp) c.*263A>T (n.*263A>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591615G>A | CA393624788 | ARNT2 | c.1966G>A (p.Val656Ile) c.1933G>A (p.Val645Ile) c.*264G>A (n.*264G>A) | |
15 | g.80591615G>C | CA393624789 | ARNT2 | c.1966G>C (p.Val656Leu) c.1933G>C (p.Val645Leu) c.*264G>C (n.*264G>C) | |
15 | g.80591615G>T | CA393624790 | ARNT2 | c.1966G>T (p.Val656Phe) c.1933G>T (p.Val645Phe) c.*264G>T (n.*264G>T) | |
15 | g.80591616T>A | CA393624791 | ARNT2 | c.1967T>A (p.Val656Asp) c.1934T>A (p.Val645Asp) c.*265T>A (n.*265T>A) | |
15 | g.80591616T>C | CA393624792 | ARNT2 | c.1967T>C (p.Val656Ala) c.1934T>C (p.Val645Ala) c.*265T>C (n.*265T>C) | |
15 | g.80591616T>G | CA393624793 | ARNT2 | c.1967T>G (p.Val656Gly) c.1934T>G (p.Val645Gly) c.*265T>G (n.*265T>G) | |
15 | g.80591617C>A | CA491688695 | ARNT2 | c.1968C>A (p.Val656=) c.1935C>A (p.Val645=) c.*266C>A (n.*266C>A) | dbSNP |
15 | g.80591617C= | CA2190489657 | ARNT2 | c.1968C= (p.Val656=) c.1935C= (p.Val645=) c.*266C= (n.*266C=) | |
15 | g.80591617C>G | CA491688693 | ARNT2 | c.1968C>G (p.Val656=) c.1935C>G (p.Val645=) c.*266C>G (n.*266C>G) | |
15 | g.80591617C>T | CA491688694 | ARNT2 | c.1968C>T (p.Val656=) c.1935C>T (p.Val645=) c.*266C>T (n.*266C>T) | |
15 | g.80591618T>A | CA393624794 | ARNT2 | c.1969T>A (p.Trp657Arg) c.1936T>A (p.Trp646Arg) c.*267T>A (n.*267T>A) | |
15 | g.80591618T>C | CA393624795 | ARNT2 | c.1969T>C (p.Trp657Arg) c.1936T>C (p.Trp646Arg) c.*267T>C (n.*267T>C) | |
15 | g.80591618T>G | CA393624796 | ARNT2 | c.1969T>G (p.Trp657Gly) c.1936T>G (p.Trp646Gly) c.*267T>G (n.*267T>G) | |
15 | g.80591619G>A | CA393624797 | ARNT2 | c.1970G>A (p.Trp657Ter) c.1937G>A (p.Trp646Ter) c.*268G>A (n.*268G>A) | |
15 | g.80591619G>C | CA393624798 | ARNT2 | c.1970G>C (p.Trp657Ser) c.1937G>C (p.Trp646Ser) c.*268G>C (n.*268G>C) | |
15 | g.80591619G= | CA2190489660 | ARNT2 | c.1970G= (p.Trp657=) c.1937G= (p.Trp646=) c.*268G= (n.*268G=) | |
15 | g.80591619G>T | CA393624799 | ARNT2 | c.1970G>T (p.Trp657Leu) c.1937G>T (p.Trp646Leu) c.*268G>T (n.*268G>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.80591620G>A | CA393624802 | ARNT2 | c.1971G>A (p.Trp657Ter) c.1938G>A (p.Trp646Ter) c.*269G>A (n.*269G>A) | |
15 | g.80591620G>C | CA393624801 | ARNT2 | c.1971G>C (p.Trp657Cys) c.1938G>C (p.Trp646Cys) c.*269G>C (n.*269G>C) | |
15 | g.80591620G>T | CA393624800 | ARNT2 | c.1971G>T (p.Trp657Cys) c.1938G>T (p.Trp646Cys) c.*269G>T (n.*269G>T) | |
15 | g.80591621T>A | CA393624803 | ARNT2 | c.1972T>A (p.Ser658Thr) c.1939T>A (p.Ser647Thr) c.*270T>A (n.*270T>A) | gnomAD v4 |
15 | g.80591621T>C | CA393624804 | ARNT2 | c.1972T>C (p.Ser658Pro) c.1939T>C (p.Ser647Pro) c.*270T>C (n.*270T>C) | |
15 | g.80591621T>G | CA393624805 | ARNT2 | c.1972T>G (p.Ser658Ala) c.1939T>G (p.Ser647Ala) c.*270T>G (n.*270T>G) | |
15 | g.80591622C>A | CA393624806 | ARNT2 | c.1973C>A (p.Ser658Ter) c.1940C>A (p.Ser647Ter) c.*271C>A (n.*271C>A) | |
15 | g.80591622C= | CA2190489662 | ARNT2 | c.1973C= (p.Ser658=) c.1940C= (p.Ser647=) c.*271C= (n.*271C=) | |
15 | g.80591622C>G | CA393624807 | ARNT2 | c.1973C>G (p.Ser658Trp) c.1940C>G (p.Ser647Trp) c.*271C>G (n.*271C>G) | |
15 | g.80591622C>T | CA393624808 | ARNT2 | c.1973C>T (p.Ser658Leu) c.1940C>T (p.Ser647Leu) c.*271C>T (n.*271C>T) | dbSNP gnomAD v4 |
15 | g.80591623G>A | CA7692235 | ARNT2 | c.1974G>A (p.Ser658=) c.1941G>A (p.Ser647=) c.*272G>A (n.*272G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591623G>C | CA491688697 | ARNT2 | c.1974G>C (p.Ser658=) c.1941G>C (p.Ser647=) c.*272G>C (n.*272G>C) | dbSNP gnomAD v4 |
15 | g.80591623G= | CA2190489665 | ARNT2 | c.1974G= (p.Ser658=) c.1941G= (p.Ser647=) c.*272G= (n.*272G=) | |
15 | g.80591623G>T | CA491688696 | ARNT2 | c.1974G>T (p.Ser658=) c.1941G>T (p.Ser647=) c.*272G>T (n.*272G>T) | gnomAD v4 |
15 | g.80591624C>A | CA393624809 | ARNT2 | c.1975C>A (p.Gln659Lys) c.1942C>A (p.Gln648Lys) c.*273C>A (n.*273C>A) | |
15 | g.80591624C>G | CA393624810 | ARNT2 | c.1975C>G (p.Gln659Glu) c.1942C>G (p.Gln648Glu) c.*273C>G (n.*273C>G) | |
15 | g.80591624C>T | CA393624811 | ARNT2 | c.1975C>T (p.Gln659Ter) c.1942C>T (p.Gln648Ter) c.*273C>T (n.*273C>T) | |
15 | g.80591625A>C | CA393625005 | ARNT2 | c.1976A>C (p.Gln659Pro) c.1943A>C (p.Gln648Pro) c.*274A>C (n.*274A>C) | |
15 | g.80591625A>G | CA393625008 | ARNT2 | c.1976A>G (p.Gln659Arg) c.1943A>G (p.Gln648Arg) c.*274A>G (n.*274A>G) | |
15 | g.80591625A>T | CA393625011 | ARNT2 | c.1976A>T (p.Gln659Leu) c.1943A>T (p.Gln648Leu) c.*274A>T (n.*274A>T) | |
15 | g.80591626G>A | CA491688700 | ARNT2 | c.1977G>A (p.Gln659=) c.1944G>A (p.Gln648=) c.*275G>A (n.*275G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.80591626G>C | CA393625013 | ARNT2 | c.1977G>C (p.Gln659His) c.1944G>C (p.Gln648His) c.*275G>C (n.*275G>C) | |
15 | g.80591626G= | CA2190489667 | ARNT2 | c.1977G= (p.Gln659=) c.1944G= (p.Gln648=) c.*275G= (n.*275G=) | |
15 | g.80591626G>T | CA393625015 | ARNT2 | c.1977G>T (p.Gln659His) c.1944G>T (p.Gln648His) c.*275G>T (n.*275G>T) | |
15 | g.80591627T>A | CA393625020 | ARNT2 | c.1978T>A (p.Trp660Arg) c.1945T>A (p.Trp649Arg) c.*276T>A (n.*276T>A) | |
15 | g.80591627T>C | CA393625022 | ARNT2 | c.1978T>C (p.Trp660Arg) c.1945T>C (p.Trp649Arg) c.*276T>C (n.*276T>C) | |
15 | g.80591627T>G | CA393625025 | ARNT2 | c.1978T>G (p.Trp660Gly) c.1945T>G (p.Trp649Gly) c.*276T>G (n.*276T>G) | |
15 | g.80591628G>A | CA393625028 | ARNT2 | c.1979G>A (p.Trp660Ter) c.1946G>A (p.Trp649Ter) c.*277G>A (n.*277G>A) | |
15 | g.80591628G>C | CA393625030 | ARNT2 | c.1979G>C (p.Trp660Ser) c.1946G>C (p.Trp649Ser) c.*277G>C (n.*277G>C) | |
15 | g.80591628G>T | CA393625032 | ARNT2 | c.1979G>T (p.Trp660Leu) c.1946G>T (p.Trp649Leu) c.*277G>T (n.*277G>T) | |
15 | g.80591629G>A | CA393625034 | ARNT2 | c.1980G>A (p.Trp660Ter) c.1947G>A (p.Trp649Ter) c.*278G>A (n.*278G>A) | |
15 | g.80591629G>C | CA393625036 | ARNT2 | c.1980G>C (p.Trp660Cys) c.1947G>C (p.Trp649Cys) c.*278G>C (n.*278G>C) | |
15 | g.80591629G>T | CA393625038 | ARNT2 | c.1980G>T (p.Trp660Cys) c.1947G>T (p.Trp649Cys) c.*278G>T (n.*278G>T) | |
15 | g.80591630C>A | CA393625041 | ARNT2 | c.1981C>A (p.Gln661Lys) c.1948C>A (p.Gln650Lys) c.*279C>A (n.*279C>A) | dbSNP gnomAD v4 |
15 | g.80591630C= | CA2190489669 | ARNT2 | c.1981C= (p.Gln661=) c.1948C= (p.Gln650=) c.*279C= (n.*279C=) | |
15 | g.80591630C>G | CA393625043 | ARNT2 | c.1981C>G (p.Gln661Glu) c.1948C>G (p.Gln650Glu) c.*279C>G (n.*279C>G) | |
15 | g.80591630C>T | CA393625046 | ARNT2 | c.1981C>T (p.Gln661Ter) c.1948C>T (p.Gln650Ter) c.*279C>T (n.*279C>T) | |
15 | g.80591631A= | CA2190489671 | ARNT2 | c.1982A= (p.Gln661=) c.1949A= (p.Gln650=) c.*280A= (n.*280A=) | |
15 | g.80591631A>C | CA393625051 | ARNT2 | c.1982A>C (p.Gln661Pro) c.1949A>C (p.Gln650Pro) c.*280A>C (n.*280A>C) | |
15 | g.80591631A>G | CA7692236 | ARNT2 | c.1982A>G (p.Gln661Arg) c.1949A>G (p.Gln650Arg) c.*280A>G (n.*280A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.80591631A>T | CA393625049 | ARNT2 | c.1982A>T (p.Gln661Leu) c.1949A>T (p.Gln650Leu) c.*280A>T (n.*280A>T) |