Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.30897353C>GCA2553133696DDR1c.1998-26C>G (n.1998-26C>G)
c.1887-26C>G (n.1887-26C>G)
c.1194-26C>G (n.1194-26C>G)
c.1560-26C>G (n.1560-26C>G)
c.*1055-26C>G (n.*1055-26C>G)
c.68-26C>G
c.1941-26C>G (n.1941-26C>G)
c.1998-8C>G (n.1998-8C>G)
c.472-8C>G
c.*115-26C>G (n.*115-26C>G)
c.2052-26C>G (n.2052-26C>G)
c.2052-8C>G (n.2052-8C>G)
c.1941-8C>G (n.1941-8C>G)
c.1887-8C>G (n.1887-8C>G)
6g.30897353C>TCA2711427017DDR1c.1998-26C>T (n.1998-26C>T)
c.1887-26C>T (n.1887-26C>T)
c.1194-26C>T (n.1194-26C>T)
c.1560-26C>T (n.1560-26C>T)
c.*1055-26C>T (n.*1055-26C>T)
c.68-26C>T
c.1941-26C>T (n.1941-26C>T)
c.1998-8C>T (n.1998-8C>T)
c.472-8C>T
c.*115-26C>T (n.*115-26C>T)
c.2052-26C>T (n.2052-26C>T)
c.2052-8C>T (n.2052-8C>T)
c.1941-8C>T (n.1941-8C>T)
c.1887-8C>T (n.1887-8C>T)
dbSNP
6g.30897355C=CA1618917777DDR1c.1998-24C= (n.1998-24C=)
c.1887-24C= (n.1887-24C=)
c.1194-24C= (n.1194-24C=)
c.1560-24C= (n.1560-24C=)
c.*1055-24C= (n.*1055-24C=)
c.68-24C=
c.1941-24C= (n.1941-24C=)
c.1998-6C= (n.1998-6C=)
c.472-6C=
c.*115-24C= (n.*115-24C=)
c.2052-24C= (n.2052-24C=)
c.2052-6C= (n.2052-6C=)
c.1941-6C= (n.1941-6C=)
c.1887-6C= (n.1887-6C=)
6g.30897355C>GCA566687317DDR1c.1998-24C>G (n.1998-24C>G)
c.1887-24C>G (n.1887-24C>G)
c.1194-24C>G (n.1194-24C>G)
c.1560-24C>G (n.1560-24C>G)
c.*1055-24C>G (n.*1055-24C>G)
c.68-24C>G
c.1941-24C>G (n.1941-24C>G)
c.1998-6C>G (n.1998-6C>G)
c.472-6C>G
c.*115-24C>G (n.*115-24C>G)
c.2052-24C>G (n.2052-24C>G)
c.2052-6C>G (n.2052-6C>G)
c.1941-6C>G (n.1941-6C>G)
c.1887-6C>G (n.1887-6C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897356T>CCA1618917779DDR1c.1998-23T>C (n.1998-23T>C)
c.1887-23T>C (n.1887-23T>C)
c.1194-23T>C (n.1194-23T>C)
c.1560-23T>C (n.1560-23T>C)
c.*1055-23T>C (n.*1055-23T>C)
c.68-23T>C
c.1941-23T>C (n.1941-23T>C)
c.1998-5T>C (n.1998-5T>C)
c.472-5T>C
c.*115-23T>C (n.*115-23T>C)
c.2052-23T>C (n.2052-23T>C)
c.2052-5T>C (n.2052-5T>C)
c.1941-5T>C (n.1941-5T>C)
c.1887-5T>C (n.1887-5T>C)
dbSNP
6g.30897356T=CA1618917778DDR1c.1998-23T= (n.1998-23T=)
c.1887-23T= (n.1887-23T=)
c.1194-23T= (n.1194-23T=)
c.1560-23T= (n.1560-23T=)
c.*1055-23T= (n.*1055-23T=)
c.68-23T=
c.1941-23T= (n.1941-23T=)
c.1998-5T= (n.1998-5T=)
c.472-5T=
c.*115-23T= (n.*115-23T=)
c.2052-23T= (n.2052-23T=)
c.2052-5T= (n.2052-5T=)
c.1941-5T= (n.1941-5T=)
c.1887-5T= (n.1887-5T=)
6g.30897357T>GCA2677904219DDR1c.1998-22T>G (n.1998-22T>G)
c.1887-22T>G (n.1887-22T>G)
c.1194-22T>G (n.1194-22T>G)
c.1560-22T>G (n.1560-22T>G)
c.*1055-22T>G (n.*1055-22T>G)
c.68-22T>G
c.1941-22T>G (n.1941-22T>G)
c.1998-4T>G (n.1998-4T>G)
c.472-4T>G
c.*115-22T>G (n.*115-22T>G)
c.2052-22T>G (n.2052-22T>G)
c.2052-4T>G (n.2052-4T>G)
c.1941-4T>G (n.1941-4T>G)
c.1887-4T>G (n.1887-4T>G)
gnomAD v4
6g.30897358C>ACA1618917781DDR1c.1998-21C>A (n.1998-21C>A)
c.1887-21C>A (n.1887-21C>A)
c.1194-21C>A (n.1194-21C>A)
c.1560-21C>A (n.1560-21C>A)
c.*1055-21C>A (n.*1055-21C>A)
c.68-21C>A
c.1941-21C>A (n.1941-21C>A)
c.1998-3C>A (n.1998-3C>A)
c.472-3C>A
c.*115-21C>A (n.*115-21C>A)
c.2052-21C>A (n.2052-21C>A)
c.2052-3C>A (n.2052-3C>A)
c.1941-3C>A (n.1941-3C>A)
c.1887-3C>A (n.1887-3C>A)
dbSNP gnomAD v4
6g.30897358C=CA1618917780DDR1c.1998-21C= (n.1998-21C=)
c.1887-21C= (n.1887-21C=)
c.1194-21C= (n.1194-21C=)
c.1560-21C= (n.1560-21C=)
c.*1055-21C= (n.*1055-21C=)
c.68-21C=
c.1941-21C= (n.1941-21C=)
c.1998-3C= (n.1998-3C=)
c.472-3C=
c.*115-21C= (n.*115-21C=)
c.2052-21C= (n.2052-21C=)
c.2052-3C= (n.2052-3C=)
c.1941-3C= (n.1941-3C=)
c.1887-3C= (n.1887-3C=)
6g.30897359A>CCA363137924DDR1c.1998-20A>C (n.1998-20A>C)
c.1887-20A>C (n.1887-20A>C)
c.1194-20A>C (n.1194-20A>C)
c.1560-20A>C (n.1560-20A>C)
c.*1055-20A>C (n.*1055-20A>C)
c.68-20A>C
c.1941-20A>C (n.1941-20A>C)
c.1998-2A>C (n.1998-2A>C)
c.472-2A>C
c.*115-20A>C (n.*115-20A>C)
c.2052-20A>C (n.2052-20A>C)
c.2052-2A>C (n.2052-2A>C)
c.1941-2A>C (n.1941-2A>C)
c.1887-2A>C (n.1887-2A>C)
6g.30897359A>GCA363137925DDR1c.1998-20A>G (n.1998-20A>G)
c.1887-20A>G (n.1887-20A>G)
c.1194-20A>G (n.1194-20A>G)
c.1560-20A>G (n.1560-20A>G)
c.*1055-20A>G (n.*1055-20A>G)
c.68-20A>G
c.1941-20A>G (n.1941-20A>G)
c.1998-2A>G (n.1998-2A>G)
c.472-2A>G
c.*115-20A>G (n.*115-20A>G)
c.2052-20A>G (n.2052-20A>G)
c.2052-2A>G (n.2052-2A>G)
c.1941-2A>G (n.1941-2A>G)
c.1887-2A>G (n.1887-2A>G)
6g.30897359A>TCA363137927DDR1c.1998-20A>T (n.1998-20A>T)
c.1887-20A>T (n.1887-20A>T)
c.1194-20A>T (n.1194-20A>T)
c.1560-20A>T (n.1560-20A>T)
c.*1055-20A>T (n.*1055-20A>T)
c.68-20A>T
c.1941-20A>T (n.1941-20A>T)
c.1998-2A>T (n.1998-2A>T)
c.472-2A>T
c.*115-20A>T (n.*115-20A>T)
c.2052-20A>T (n.2052-20A>T)
c.2052-2A>T (n.2052-2A>T)
c.1941-2A>T (n.1941-2A>T)
c.1887-2A>T (n.1887-2A>T)
6g.30897360G>ACA363137931DDR1c.1998-19G>A (n.1998-19G>A)
c.1887-19G>A (n.1887-19G>A)
c.1194-19G>A (n.1194-19G>A)
c.1560-19G>A (n.1560-19G>A)
c.*1055-19G>A (n.*1055-19G>A)
c.68-19G>A
c.1941-19G>A (n.1941-19G>A)
c.1998-1G>A (n.1998-1G>A)
c.472-1G>A
c.*115-19G>A (n.*115-19G>A)
c.2052-19G>A (n.2052-19G>A)
c.2052-1G>A (n.2052-1G>A)
c.1941-1G>A (n.1941-1G>A)
c.1887-1G>A (n.1887-1G>A)
6g.30897360G>CCA363137933DDR1c.1998-19G>C (n.1998-19G>C)
c.1887-19G>C (n.1887-19G>C)
c.1194-19G>C (n.1194-19G>C)
c.1560-19G>C (n.1560-19G>C)
c.*1055-19G>C (n.*1055-19G>C)
c.68-19G>C
c.1941-19G>C (n.1941-19G>C)
c.1998-1G>C (n.1998-1G>C)
c.472-1G>C
c.*115-19G>C (n.*115-19G>C)
c.2052-19G>C (n.2052-19G>C)
c.2052-1G>C (n.2052-1G>C)
c.1941-1G>C (n.1941-1G>C)
c.1887-1G>C (n.1887-1G>C)
gnomAD v4
6g.30897360G=CA1618917782DDR1c.1998-19G= (n.1998-19G=)
c.1887-19G= (n.1887-19G=)
c.1194-19G= (n.1194-19G=)
c.1560-19G= (n.1560-19G=)
c.*1055-19G= (n.*1055-19G=)
c.68-19G=
c.1941-19G= (n.1941-19G=)
c.1998-1G= (n.1998-1G=)
c.472-1G=
c.*115-19G= (n.*115-19G=)
c.2052-19G= (n.2052-19G=)
c.2052-1G= (n.2052-1G=)
c.1941-1G= (n.1941-1G=)
c.1887-1G= (n.1887-1G=)
6g.30897360G>TCA363137935DDR1c.1998-19G>T (n.1998-19G>T)
c.1887-19G>T (n.1887-19G>T)
c.1194-19G>T (n.1194-19G>T)
c.1560-19G>T (n.1560-19G>T)
c.*1055-19G>T (n.*1055-19G>T)
c.68-19G>T
c.1941-19G>T (n.1941-19G>T)
c.1998-1G>T (n.1998-1G>T)
c.472-1G>T
c.*115-19G>T (n.*115-19G>T)
c.2052-19G>T (n.2052-19G>T)
c.2052-1G>T (n.2052-1G>T)
c.1941-1G>T (n.1941-1G>T)
c.1887-1G>T (n.1887-1G>T)
dbSNP gnomAD v2
6g.30897361C>ACA363137939DDR1c.1998-18C>A (n.1998-18C>A)
c.1887-18C>A (n.1887-18C>A)
c.1194-18C>A (n.1194-18C>A)
c.1560-18C>A (n.1560-18C>A)
c.*1055-18C>A (n.*1055-18C>A)
c.68-18C>A
c.1941-18C>A (n.1941-18C>A)
c.1998C>A (p.Ser666Arg)
c.472C>A
c.*115-18C>A (n.*115-18C>A)
c.2052-18C>A (n.2052-18C>A)
c.2052C>A (p.Ser684Arg)
c.1941C>A (p.Ser647Arg)
c.1887C>A (p.Ser629Arg)
6g.30897361C=CA1618917783DDR1c.1998-18C= (n.1998-18C=)
c.1887-18C= (n.1887-18C=)
c.1194-18C= (n.1194-18C=)
c.1560-18C= (n.1560-18C=)
c.*1055-18C= (n.*1055-18C=)
c.68-18C=
c.1941-18C= (n.1941-18C=)
c.1998C= (p.Ser666=)
c.472C=
c.*115-18C= (n.*115-18C=)
c.2052-18C= (n.2052-18C=)
c.2052C= (p.Ser684=)
c.1941C= (p.Ser647=)
c.1887C= (p.Ser629=)
6g.30897361C>GCA363137941DDR1c.1998-18C>G (n.1998-18C>G)
c.1887-18C>G (n.1887-18C>G)
c.1194-18C>G (n.1194-18C>G)
c.1560-18C>G (n.1560-18C>G)
c.*1055-18C>G (n.*1055-18C>G)
c.68-18C>G
c.1941-18C>G (n.1941-18C>G)
c.1998C>G (p.Ser666Arg)
c.472C>G
c.*115-18C>G (n.*115-18C>G)
c.2052-18C>G (n.2052-18C>G)
c.2052C>G (p.Ser684Arg)
c.1941C>G (p.Ser647Arg)
c.1887C>G (p.Ser629Arg)
6g.30897361C>TCA3704770DDR1c.1998-18C>T (n.1998-18C>T)
c.1887-18C>T (n.1887-18C>T)
c.1194-18C>T (n.1194-18C>T)
c.1560-18C>T (n.1560-18C>T)
c.*1055-18C>T (n.*1055-18C>T)
c.68-18C>T
c.1941-18C>T (n.1941-18C>T)
c.1998C>T (p.Ser666=)
c.472C>T
c.*115-18C>T (n.*115-18C>T)
c.2052-18C>T (n.2052-18C>T)
c.2052C>T (p.Ser684=)
c.1941C>T (p.Ser647=)
c.1887C>T (p.Ser629=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897362T>ACA363137947DDR1c.1998-17T>A (n.1998-17T>A)
c.1887-17T>A (n.1887-17T>A)
c.1194-17T>A (n.1194-17T>A)
c.1560-17T>A (n.1560-17T>A)
c.*1055-17T>A (n.*1055-17T>A)
c.68-17T>A
c.1941-17T>A (n.1941-17T>A)
c.1999T>A (p.Phe667Ile)
c.473T>A
c.*115-17T>A (n.*115-17T>A)
c.2052-17T>A (n.2052-17T>A)
c.2053T>A (p.Phe685Ile)
c.1942T>A (p.Phe648Ile)
c.1888T>A (p.Phe630Ile)
6g.30897362T>CCA363137952DDR1c.1998-17T>C (n.1998-17T>C)
c.1887-17T>C (n.1887-17T>C)
c.1194-17T>C (n.1194-17T>C)
c.1560-17T>C (n.1560-17T>C)
c.*1055-17T>C (n.*1055-17T>C)
c.68-17T>C
c.1941-17T>C (n.1941-17T>C)
c.1999T>C (p.Phe667Leu)
c.473T>C
c.*115-17T>C (n.*115-17T>C)
c.2052-17T>C (n.2052-17T>C)
c.2053T>C (p.Phe685Leu)
c.1942T>C (p.Phe648Leu)
c.1888T>C (p.Phe630Leu)
6g.30897362T>GCA363137950DDR1c.1998-17T>G (n.1998-17T>G)
c.1887-17T>G (n.1887-17T>G)
c.1194-17T>G (n.1194-17T>G)
c.1560-17T>G (n.1560-17T>G)
c.*1055-17T>G (n.*1055-17T>G)
c.68-17T>G
c.1941-17T>G (n.1941-17T>G)
c.1999T>G (p.Phe667Val)
c.473T>G
c.*115-17T>G (n.*115-17T>G)
c.2052-17T>G (n.2052-17T>G)
c.2053T>G (p.Phe685Val)
c.1942T>G (p.Phe648Val)
c.1888T>G (p.Phe630Val)
6g.30897363T>ACA363137956DDR1c.1998-16T>A (n.1998-16T>A)
c.1887-16T>A (n.1887-16T>A)
c.1194-16T>A (n.1194-16T>A)
c.1560-16T>A (n.1560-16T>A)
c.*1055-16T>A (n.*1055-16T>A)
c.68-16T>A
c.1941-16T>A (n.1941-16T>A)
c.2000T>A (p.Phe667Tyr)
c.474T>A
c.*115-16T>A (n.*115-16T>A)
c.2052-16T>A (n.2052-16T>A)
c.2054T>A (p.Phe685Tyr)
c.1943T>A (p.Phe648Tyr)
c.1889T>A (p.Phe630Tyr)
6g.30897363T>CCA363137957DDR1c.1998-16T>C (n.1998-16T>C)
c.1887-16T>C (n.1887-16T>C)
c.1194-16T>C (n.1194-16T>C)
c.1560-16T>C (n.1560-16T>C)
c.*1055-16T>C (n.*1055-16T>C)
c.68-16T>C
c.1941-16T>C (n.1941-16T>C)
c.2000T>C (p.Phe667Ser)
c.474T>C
c.*115-16T>C (n.*115-16T>C)
c.2052-16T>C (n.2052-16T>C)
c.2054T>C (p.Phe685Ser)
c.1943T>C (p.Phe648Ser)
c.1889T>C (p.Phe630Ser)
6g.30897363T>GCA363137960DDR1c.1998-16T>G (n.1998-16T>G)
c.1887-16T>G (n.1887-16T>G)
c.1194-16T>G (n.1194-16T>G)
c.1560-16T>G (n.1560-16T>G)
c.*1055-16T>G (n.*1055-16T>G)
c.68-16T>G
c.1941-16T>G (n.1941-16T>G)
c.2000T>G (p.Phe667Cys)
c.474T>G
c.*115-16T>G (n.*115-16T>G)
c.2052-16T>G (n.2052-16T>G)
c.2054T>G (p.Phe685Cys)
c.1943T>G (p.Phe648Cys)
c.1889T>G (p.Phe630Cys)
6g.30897363_30897366delinsTCTCCA1618917784DDR1c.1998-16_1998-13delinsTCTC (n.1998-16_1998-13delinsTCTC)
c.1887-16_1887-13delinsTCTC (n.1887-16_1887-13delinsTCTC)
c.1194-16_1194-13delinsTCTC (n.1194-16_1194-13delinsTCTC)
c.1560-16_1560-13delinsTCTC (n.1560-16_1560-13delinsTCTC)
c.*1055-16_*1055-13delinsTCTC (n.*1055-16_*1055-13delinsTCTC)
c.68-16_68-13delinsTCTC
c.1941-16_1941-13delinsTCTC (n.1941-16_1941-13delinsTCTC)
c.2000_2003delinsTCTC (p.Phe667=)
c.474_477delinsTCTC
c.*115-16_*115-13delinsTCTC (n.*115-16_*115-13delinsTCTC)
c.2052-16_2052-13delinsTCTC (n.2052-16_2052-13delinsTCTC)
c.2054_2057delinsTCTC (p.Phe685=)
c.1943_1946delinsTCTC (p.Phe648=)
c.1889_1892delinsTCTC (p.Phe630=)
6g.30897364C>ACA363137961DDR1c.1998-15C>A (n.1998-15C>A)
c.1887-15C>A (n.1887-15C>A)
c.1194-15C>A (n.1194-15C>A)
c.1560-15C>A (n.1560-15C>A)
c.*1055-15C>A (n.*1055-15C>A)
c.68-15C>A
c.1941-15C>A (n.1941-15C>A)
c.2001C>A (p.Phe667Leu)
c.475C>A
c.*115-15C>A (n.*115-15C>A)
c.2052-15C>A (n.2052-15C>A)
c.2055C>A (p.Phe685Leu)
c.1944C>A (p.Phe648Leu)
c.1890C>A (p.Phe630Leu)
6g.30897364C=CA1618917785DDR1c.1998-15C= (n.1998-15C=)
c.1887-15C= (n.1887-15C=)
c.1194-15C= (n.1194-15C=)
c.1560-15C= (n.1560-15C=)
c.*1055-15C= (n.*1055-15C=)
c.68-15C=
c.1941-15C= (n.1941-15C=)
c.2001C= (p.Phe667=)
c.475C=
c.*115-15C= (n.*115-15C=)
c.2052-15C= (n.2052-15C=)
c.2055C= (p.Phe685=)
c.1944C= (p.Phe648=)
c.1890C= (p.Phe630=)
6g.30897364C>GCA363137963DDR1c.1998-15C>G (n.1998-15C>G)
c.1887-15C>G (n.1887-15C>G)
c.1194-15C>G (n.1194-15C>G)
c.1560-15C>G (n.1560-15C>G)
c.*1055-15C>G (n.*1055-15C>G)
c.68-15C>G
c.1941-15C>G (n.1941-15C>G)
c.2001C>G (p.Phe667Leu)
c.475C>G
c.*115-15C>G (n.*115-15C>G)
c.2052-15C>G (n.2052-15C>G)
c.2055C>G (p.Phe685Leu)
c.1944C>G (p.Phe648Leu)
c.1890C>G (p.Phe630Leu)
6g.30897364C>TCA3704771DDR1c.1998-15C>T (n.1998-15C>T)
c.1887-15C>T (n.1887-15C>T)
c.1194-15C>T (n.1194-15C>T)
c.1560-15C>T (n.1560-15C>T)
c.*1055-15C>T (n.*1055-15C>T)
c.68-15C>T
c.1941-15C>T (n.1941-15C>T)
c.2001C>T (p.Phe667=)
c.475C>T
c.*115-15C>T (n.*115-15C>T)
c.2052-15C>T (n.2052-15C>T)
c.2055C>T (p.Phe685=)
c.1944C>T (p.Phe648=)
c.1890C>T (p.Phe630=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.30897366_30897368delCA566687375DDR1c.1998-13_1998-11del (n.1998-13_1998-11del)
c.1887-13_1887-11del (n.1887-13_1887-11del)
c.1194-13_1194-11del (n.1194-13_1194-11del)
c.1560-13_1560-11del (n.1560-13_1560-11del)
c.*1055-13_*1055-11del (n.*1055-13_*1055-11del)
c.68-13_68-11del
c.1941-13_1941-11del (n.1941-13_1941-11del)
c.2003_2005del (p.Ser668del)
c.477_479del
c.*115-13_*115-11del (n.*115-13_*115-11del)
c.2052-13_2052-11del (n.2052-13_2052-11del)
c.2057_2059del (p.Ser686del)
c.1946_1948del (p.Ser649del)
c.1892_1894del (p.Ser631del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897365T>ACA363137974DDR1c.1998-14T>A (n.1998-14T>A)
c.1887-14T>A (n.1887-14T>A)
c.1194-14T>A (n.1194-14T>A)
c.1560-14T>A (n.1560-14T>A)
c.*1055-14T>A (n.*1055-14T>A)
c.68-14T>A
c.1941-14T>A (n.1941-14T>A)
c.2002T>A (p.Ser668Thr)
c.476T>A
c.*115-14T>A (n.*115-14T>A)
c.2052-14T>A (n.2052-14T>A)
c.2056T>A (p.Ser686Thr)
c.1945T>A (p.Ser649Thr)
c.1891T>A (p.Ser631Thr)
dbSNP
6g.30897365T>CCA363137970DDR1c.1998-14T>C (n.1998-14T>C)
c.1887-14T>C (n.1887-14T>C)
c.1194-14T>C (n.1194-14T>C)
c.1560-14T>C (n.1560-14T>C)
c.*1055-14T>C (n.*1055-14T>C)
c.68-14T>C
c.1941-14T>C (n.1941-14T>C)
c.2002T>C (p.Ser668Pro)
c.476T>C
c.*115-14T>C (n.*115-14T>C)
c.2052-14T>C (n.2052-14T>C)
c.2056T>C (p.Ser686Pro)
c.1945T>C (p.Ser649Pro)
c.1891T>C (p.Ser631Pro)
6g.30897365T>GCA363137972DDR1c.1998-14T>G (n.1998-14T>G)
c.1887-14T>G (n.1887-14T>G)
c.1194-14T>G (n.1194-14T>G)
c.1560-14T>G (n.1560-14T>G)
c.*1055-14T>G (n.*1055-14T>G)
c.68-14T>G
c.1941-14T>G (n.1941-14T>G)
c.2002T>G (p.Ser668Ala)
c.476T>G
c.*115-14T>G (n.*115-14T>G)
c.2052-14T>G (n.2052-14T>G)
c.2056T>G (p.Ser686Ala)
c.1945T>G (p.Ser649Ala)
c.1891T>G (p.Ser631Ala)
6g.30897365T=CA1618917786DDR1c.1998-14T= (n.1998-14T=)
c.1887-14T= (n.1887-14T=)
c.1194-14T= (n.1194-14T=)
c.1560-14T= (n.1560-14T=)
c.*1055-14T= (n.*1055-14T=)
c.68-14T=
c.1941-14T= (n.1941-14T=)
c.2002T= (p.Ser668=)
c.476T=
c.*115-14T= (n.*115-14T=)
c.2052-14T= (n.2052-14T=)
c.2056T= (p.Ser686=)
c.1945T= (p.Ser649=)
c.1891T= (p.Ser631=)
6g.30897366C>ACA363137976DDR1c.1998-13C>A (n.1998-13C>A)
c.1887-13C>A (n.1887-13C>A)
c.1194-13C>A (n.1194-13C>A)
c.1560-13C>A (n.1560-13C>A)
c.*1055-13C>A (n.*1055-13C>A)
c.68-13C>A
c.1941-13C>A (n.1941-13C>A)
c.2003C>A (p.Ser668Tyr)
c.477C>A
c.*115-13C>A (n.*115-13C>A)
c.2052-13C>A (n.2052-13C>A)
c.2057C>A (p.Ser686Tyr)
c.1946C>A (p.Ser649Tyr)
c.1892C>A (p.Ser631Tyr)
gnomAD v4
6g.30897366C>GCA363137979DDR1c.1998-13C>G (n.1998-13C>G)
c.1887-13C>G (n.1887-13C>G)
c.1194-13C>G (n.1194-13C>G)
c.1560-13C>G (n.1560-13C>G)
c.*1055-13C>G (n.*1055-13C>G)
c.68-13C>G
c.1941-13C>G (n.1941-13C>G)
c.2003C>G (p.Ser668Cys)
c.477C>G
c.*115-13C>G (n.*115-13C>G)
c.2052-13C>G (n.2052-13C>G)
c.2057C>G (p.Ser686Cys)
c.1946C>G (p.Ser649Cys)
c.1892C>G (p.Ser631Cys)
6g.30897366C>TCA363137983DDR1c.1998-13C>T (n.1998-13C>T)
c.1887-13C>T (n.1887-13C>T)
c.1194-13C>T (n.1194-13C>T)
c.1560-13C>T (n.1560-13C>T)
c.*1055-13C>T (n.*1055-13C>T)
c.68-13C>T
c.1941-13C>T (n.1941-13C>T)
c.2003C>T (p.Ser668Phe)
c.477C>T
c.*115-13C>T (n.*115-13C>T)
c.2052-13C>T (n.2052-13C>T)
c.2057C>T (p.Ser686Phe)
c.1946C>T (p.Ser649Phe)
c.1892C>T (p.Ser631Phe)
6g.30897367C>ACA449778461DDR1c.1998-12C>A (n.1998-12C>A)
c.1887-12C>A (n.1887-12C>A)
c.1194-12C>A (n.1194-12C>A)
c.1560-12C>A (n.1560-12C>A)
c.*1055-12C>A (n.*1055-12C>A)
c.68-12C>A
c.1941-12C>A (n.1941-12C>A)
c.2004C>A (p.Ser668=)
c.478C>A
c.*115-12C>A (n.*115-12C>A)
c.2052-12C>A (n.2052-12C>A)
c.2058C>A (p.Ser686=)
c.1947C>A (p.Ser649=)
c.1893C>A (p.Ser631=)
6g.30897367C>GCA449778463DDR1c.1998-12C>G (n.1998-12C>G)
c.1887-12C>G (n.1887-12C>G)
c.1194-12C>G (n.1194-12C>G)
c.1560-12C>G (n.1560-12C>G)
c.*1055-12C>G (n.*1055-12C>G)
c.68-12C>G
c.1941-12C>G (n.1941-12C>G)
c.2004C>G (p.Ser668=)
c.478C>G
c.*115-12C>G (n.*115-12C>G)
c.2052-12C>G (n.2052-12C>G)
c.2058C>G (p.Ser686=)
c.1947C>G (p.Ser649=)
c.1893C>G (p.Ser631=)
6g.30897367C>TCA449778464DDR1c.1998-12C>T (n.1998-12C>T)
c.1887-12C>T (n.1887-12C>T)
c.1194-12C>T (n.1194-12C>T)
c.1560-12C>T (n.1560-12C>T)
c.*1055-12C>T (n.*1055-12C>T)
c.68-12C>T
c.1941-12C>T (n.1941-12C>T)
c.2004C>T (p.Ser668=)
c.478C>T
c.*115-12C>T (n.*115-12C>T)
c.2052-12C>T (n.2052-12C>T)
c.2058C>T (p.Ser686=)
c.1947C>T (p.Ser649=)
c.1893C>T (p.Ser631=)
gnomAD v4
6g.30897368T>ACA363137985DDR1c.1998-11T>A (n.1998-11T>A)
c.1887-11T>A (n.1887-11T>A)
c.1194-11T>A (n.1194-11T>A)
c.1560-11T>A (n.1560-11T>A)
c.*1055-11T>A (n.*1055-11T>A)
c.68-11T>A
c.1941-11T>A (n.1941-11T>A)
c.2005T>A (p.Leu669Met)
c.479T>A
c.*115-11T>A (n.*115-11T>A)
c.2052-11T>A (n.2052-11T>A)
c.2059T>A (p.Leu687Met)
c.1948T>A (p.Leu650Met)
c.1894T>A (p.Leu632Met)
dbSNP
6g.30897368T>CCA449778466DDR1c.1998-11T>C (n.1998-11T>C)
c.1887-11T>C (n.1887-11T>C)
c.1194-11T>C (n.1194-11T>C)
c.1560-11T>C (n.1560-11T>C)
c.*1055-11T>C (n.*1055-11T>C)
c.68-11T>C
c.1941-11T>C (n.1941-11T>C)
c.2005T>C (p.Leu669=)
c.479T>C
c.*115-11T>C (n.*115-11T>C)
c.2052-11T>C (n.2052-11T>C)
c.2059T>C (p.Leu687=)
c.1948T>C (p.Leu650=)
c.1894T>C (p.Leu632=)
6g.30897368T>GCA363137987DDR1c.1998-11T>G (n.1998-11T>G)
c.1887-11T>G (n.1887-11T>G)
c.1194-11T>G (n.1194-11T>G)
c.1560-11T>G (n.1560-11T>G)
c.*1055-11T>G (n.*1055-11T>G)
c.68-11T>G
c.1941-11T>G (n.1941-11T>G)
c.2005T>G (p.Leu669Val)
c.479T>G
c.*115-11T>G (n.*115-11T>G)
c.2052-11T>G (n.2052-11T>G)
c.2059T>G (p.Leu687Val)
c.1948T>G (p.Leu650Val)
c.1894T>G (p.Leu632Val)
dbSNP
6g.30897368T=CA1618917787DDR1c.1998-11T= (n.1998-11T=)
c.1887-11T= (n.1887-11T=)
c.1194-11T= (n.1194-11T=)
c.1560-11T= (n.1560-11T=)
c.*1055-11T= (n.*1055-11T=)
c.68-11T=
c.1941-11T= (n.1941-11T=)
c.2005T= (p.Leu669=)
c.479T=
c.*115-11T= (n.*115-11T=)
c.2052-11T= (n.2052-11T=)
c.2059T= (p.Leu687=)
c.1948T= (p.Leu650=)
c.1894T= (p.Leu632=)
6g.30897369delCA2499343788DDR1c.1998-10del (n.1998-10del)
c.1887-10del (n.1887-10del)
c.1194-10del (n.1194-10del)
c.1560-10del (n.1560-10del)
c.*1055-10del (n.*1055-10del)
c.68-10del
c.1941-10del (n.1941-10del)
c.2006del (p.Leu669CysfsTer8)
c.480del
c.*115-10del (n.*115-10del)
c.2052-10del (n.2052-10del)
c.2060del (p.Leu687CysfsTer8)
c.1949del (p.Leu650CysfsTer8)
c.1895del (p.Leu632CysfsTer8)
6g.30897369T>ACA363137989DDR1c.1998-10T>A (n.1998-10T>A)
c.1887-10T>A (n.1887-10T>A)
c.1194-10T>A (n.1194-10T>A)
c.1560-10T>A (n.1560-10T>A)
c.*1055-10T>A (n.*1055-10T>A)
c.68-10T>A
c.1941-10T>A (n.1941-10T>A)
c.2006T>A (p.Leu669Ter)
c.480T>A
c.*115-10T>A (n.*115-10T>A)
c.2052-10T>A (n.2052-10T>A)
c.2060T>A (p.Leu687Ter)
c.1949T>A (p.Leu650Ter)
c.1895T>A (p.Leu632Ter)
6g.30897369T>CCA363137992DDR1c.1998-10T>C (n.1998-10T>C)
c.1887-10T>C (n.1887-10T>C)
c.1194-10T>C (n.1194-10T>C)
c.1560-10T>C (n.1560-10T>C)
c.*1055-10T>C (n.*1055-10T>C)
c.68-10T>C
c.1941-10T>C (n.1941-10T>C)
c.2006T>C (p.Leu669Ser)
c.480T>C
c.*115-10T>C (n.*115-10T>C)
c.2052-10T>C (n.2052-10T>C)
c.2060T>C (p.Leu687Ser)
c.1949T>C (p.Leu650Ser)
c.1895T>C (p.Leu632Ser)
6g.30897369T>GCA363137990DDR1c.1998-10T>G (n.1998-10T>G)
c.1887-10T>G (n.1887-10T>G)
c.1194-10T>G (n.1194-10T>G)
c.1560-10T>G (n.1560-10T>G)
c.*1055-10T>G (n.*1055-10T>G)
c.68-10T>G
c.1941-10T>G (n.1941-10T>G)
c.2006T>G (p.Leu669Trp)
c.480T>G
c.*115-10T>G (n.*115-10T>G)
c.2052-10T>G (n.2052-10T>G)
c.2060T>G (p.Leu687Trp)
c.1949T>G (p.Leu650Trp)
c.1895T>G (p.Leu632Trp)
6g.30897370G>ACA449778471DDR1c.1998-9G>A (n.1998-9G>A)
c.1887-9G>A (n.1887-9G>A)
c.1194-9G>A (n.1194-9G>A)
c.1560-9G>A (n.1560-9G>A)
c.*1055-9G>A (n.*1055-9G>A)
c.68-9G>A
c.1941-9G>A (n.1941-9G>A)
c.2007G>A (p.Leu669=)
c.481G>A
c.*115-9G>A (n.*115-9G>A)
c.2052-9G>A (n.2052-9G>A)
c.2061G>A (p.Leu687=)
c.1950G>A (p.Leu650=)
c.1896G>A (p.Leu632=)
6g.30897370G>CCA363137995DDR1c.1998-9G>C (n.1998-9G>C)
c.1887-9G>C (n.1887-9G>C)
c.1194-9G>C (n.1194-9G>C)
c.1560-9G>C (n.1560-9G>C)
c.*1055-9G>C (n.*1055-9G>C)
c.68-9G>C
c.1941-9G>C (n.1941-9G>C)
c.2007G>C (p.Leu669Phe)
c.481G>C
c.*115-9G>C (n.*115-9G>C)
c.2052-9G>C (n.2052-9G>C)
c.2061G>C (p.Leu687Phe)
c.1950G>C (p.Leu650Phe)
c.1896G>C (p.Leu632Phe)
6g.30897370G>TCA363137997DDR1c.1998-9G>T (n.1998-9G>T)
c.1887-9G>T (n.1887-9G>T)
c.1194-9G>T (n.1194-9G>T)
c.1560-9G>T (n.1560-9G>T)
c.*1055-9G>T (n.*1055-9G>T)
c.68-9G>T
c.1941-9G>T (n.1941-9G>T)
c.2007G>T (p.Leu669Phe)
c.481G>T
c.*115-9G>T (n.*115-9G>T)
c.2052-9G>T (n.2052-9G>T)
c.2061G>T (p.Leu687Phe)
c.1950G>T (p.Leu650Phe)
c.1896G>T (p.Leu632Phe)
6g.30897371T>ACA363138001DDR1c.1998-8T>A (n.1998-8T>A)
c.1887-8T>A (n.1887-8T>A)
c.1194-8T>A (n.1194-8T>A)
c.1560-8T>A (n.1560-8T>A)
c.*1055-8T>A (n.*1055-8T>A)
c.68-8T>A
c.1941-8T>A (n.1941-8T>A)
c.2008T>A (p.Phe670Ile)
c.482T>A
c.*115-8T>A (n.*115-8T>A)
c.2052-8T>A (n.2052-8T>A)
c.2062T>A (p.Phe688Ile)
c.1951T>A (p.Phe651Ile)
c.1897T>A (p.Phe633Ile)
6g.30897371T>CCA3704772DDR1c.1998-8T>C (n.1998-8T>C)
c.1887-8T>C (n.1887-8T>C)
c.1194-8T>C (n.1194-8T>C)
c.1560-8T>C (n.1560-8T>C)
c.*1055-8T>C (n.*1055-8T>C)
c.68-8T>C
c.1941-8T>C (n.1941-8T>C)
c.2008T>C (p.Phe670Leu)
c.482T>C
c.*115-8T>C (n.*115-8T>C)
c.2052-8T>C (n.2052-8T>C)
c.2062T>C (p.Phe688Leu)
c.1951T>C (p.Phe651Leu)
c.1897T>C (p.Phe633Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897371T>GCA363138004DDR1c.1998-8T>G (n.1998-8T>G)
c.1887-8T>G (n.1887-8T>G)
c.1194-8T>G (n.1194-8T>G)
c.1560-8T>G (n.1560-8T>G)
c.*1055-8T>G (n.*1055-8T>G)
c.68-8T>G
c.1941-8T>G (n.1941-8T>G)
c.2008T>G (p.Phe670Val)
c.482T>G
c.*115-8T>G (n.*115-8T>G)
c.2052-8T>G (n.2052-8T>G)
c.2062T>G (p.Phe688Val)
c.1951T>G (p.Phe651Val)
c.1897T>G (p.Phe633Val)
6g.30897371T=CA1618917788DDR1c.1998-8T= (n.1998-8T=)
c.1887-8T= (n.1887-8T=)
c.1194-8T= (n.1194-8T=)
c.1560-8T= (n.1560-8T=)
c.*1055-8T= (n.*1055-8T=)
c.68-8T=
c.1941-8T= (n.1941-8T=)
c.2008T= (p.Phe670=)
c.482T=
c.*115-8T= (n.*115-8T=)
c.2052-8T= (n.2052-8T=)
c.2062T= (p.Phe688=)
c.1951T= (p.Phe651=)
c.1897T= (p.Phe633=)
6g.30897372T>ACA363138008DDR1c.1998-7T>A (n.1998-7T>A)
c.1887-7T>A (n.1887-7T>A)
c.1194-7T>A (n.1194-7T>A)
c.1560-7T>A (n.1560-7T>A)
c.*1055-7T>A (n.*1055-7T>A)
c.68-7T>A
c.1941-7T>A (n.1941-7T>A)
c.2009T>A (p.Phe670Tyr)
c.483T>A
c.*115-7T>A (n.*115-7T>A)
c.2052-7T>A (n.2052-7T>A)
c.2063T>A (p.Phe688Tyr)
c.1952T>A (p.Phe651Tyr)
c.1898T>A (p.Phe633Tyr)
6g.30897372T>CCA363138009DDR1c.1998-7T>C (n.1998-7T>C)
c.1887-7T>C (n.1887-7T>C)
c.1194-7T>C (n.1194-7T>C)
c.1560-7T>C (n.1560-7T>C)
c.*1055-7T>C (n.*1055-7T>C)
c.68-7T>C
c.1941-7T>C (n.1941-7T>C)
c.2009T>C (p.Phe670Ser)
c.483T>C
c.*115-7T>C (n.*115-7T>C)
c.2052-7T>C (n.2052-7T>C)
c.2063T>C (p.Phe688Ser)
c.1952T>C (p.Phe651Ser)
c.1898T>C (p.Phe633Ser)
6g.30897372T>GCA363138011DDR1c.1998-7T>G (n.1998-7T>G)
c.1887-7T>G (n.1887-7T>G)
c.1194-7T>G (n.1194-7T>G)
c.1560-7T>G (n.1560-7T>G)
c.*1055-7T>G (n.*1055-7T>G)
c.68-7T>G
c.1941-7T>G (n.1941-7T>G)
c.2009T>G (p.Phe670Cys)
c.483T>G
c.*115-7T>G (n.*115-7T>G)
c.2052-7T>G (n.2052-7T>G)
c.2063T>G (p.Phe688Cys)
c.1952T>G (p.Phe651Cys)
c.1898T>G (p.Phe633Cys)
6g.30897373C>ACA363138013DDR1c.1998-6C>A (n.1998-6C>A)
c.1887-6C>A (n.1887-6C>A)
c.1194-6C>A (n.1194-6C>A)
c.1560-6C>A (n.1560-6C>A)
c.*1055-6C>A (n.*1055-6C>A)
c.68-6C>A
c.1941-6C>A (n.1941-6C>A)
c.2010C>A (p.Phe670Leu)
c.484C>A
c.*115-6C>A (n.*115-6C>A)
c.2052-6C>A (n.2052-6C>A)
c.2064C>A (p.Phe688Leu)
c.1953C>A (p.Phe651Leu)
c.1899C>A (p.Phe633Leu)
6g.30897373C=CA1618917789DDR1c.1998-6C= (n.1998-6C=)
c.1887-6C= (n.1887-6C=)
c.1194-6C= (n.1194-6C=)
c.1560-6C= (n.1560-6C=)
c.*1055-6C= (n.*1055-6C=)
c.68-6C=
c.1941-6C= (n.1941-6C=)
c.2010C= (p.Phe670=)
c.484C=
c.*115-6C= (n.*115-6C=)
c.2052-6C= (n.2052-6C=)
c.2064C= (p.Phe688=)
c.1953C= (p.Phe651=)
c.1899C= (p.Phe633=)
6g.30897373C>GCA363138015DDR1c.1998-6C>G (n.1998-6C>G)
c.1887-6C>G (n.1887-6C>G)
c.1194-6C>G (n.1194-6C>G)
c.1560-6C>G (n.1560-6C>G)
c.*1055-6C>G (n.*1055-6C>G)
c.68-6C>G
c.1941-6C>G (n.1941-6C>G)
c.2010C>G (p.Phe670Leu)
c.484C>G
c.*115-6C>G (n.*115-6C>G)
c.2052-6C>G (n.2052-6C>G)
c.2064C>G (p.Phe688Leu)
c.1953C>G (p.Phe651Leu)
c.1899C>G (p.Phe633Leu)
6g.30897373C>TCA449778478DDR1c.1998-6C>T (n.1998-6C>T)
c.1887-6C>T (n.1887-6C>T)
c.1194-6C>T (n.1194-6C>T)
c.1560-6C>T (n.1560-6C>T)
c.*1055-6C>T (n.*1055-6C>T)
c.68-6C>T
c.1941-6C>T (n.1941-6C>T)
c.2010C>T (p.Phe670=)
c.484C>T
c.*115-6C>T (n.*115-6C>T)
c.2052-6C>T (n.2052-6C>T)
c.2064C>T (p.Phe688=)
c.1953C>T (p.Phe651=)
c.1899C>T (p.Phe633=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897374T>ACA363138019DDR1c.1998-5T>A (n.1998-5T>A)
c.1887-5T>A (n.1887-5T>A)
c.1194-5T>A (n.1194-5T>A)
c.1560-5T>A (n.1560-5T>A)
c.*1055-5T>A (n.*1055-5T>A)
c.68-5T>A
c.1941-5T>A (n.1941-5T>A)
c.2011T>A (p.Ser671Thr)
c.485T>A
c.*115-5T>A (n.*115-5T>A)
c.2052-5T>A (n.2052-5T>A)
c.2065T>A (p.Ser689Thr)
c.1954T>A (p.Ser652Thr)
c.1900T>A (p.Ser634Thr)
6g.30897374T>CCA363138023DDR1c.1998-5T>C (n.1998-5T>C)
c.1887-5T>C (n.1887-5T>C)
c.1194-5T>C (n.1194-5T>C)
c.1560-5T>C (n.1560-5T>C)
c.*1055-5T>C (n.*1055-5T>C)
c.68-5T>C
c.1941-5T>C (n.1941-5T>C)
c.2011T>C (p.Ser671Pro)
c.485T>C
c.*115-5T>C (n.*115-5T>C)
c.2052-5T>C (n.2052-5T>C)
c.2065T>C (p.Ser689Pro)
c.1954T>C (p.Ser652Pro)
c.1900T>C (p.Ser634Pro)
6g.30897374T>GCA363138022DDR1c.1998-5T>G (n.1998-5T>G)
c.1887-5T>G (n.1887-5T>G)
c.1194-5T>G (n.1194-5T>G)
c.1560-5T>G (n.1560-5T>G)
c.*1055-5T>G (n.*1055-5T>G)
c.68-5T>G
c.1941-5T>G (n.1941-5T>G)
c.2011T>G (p.Ser671Ala)
c.485T>G
c.*115-5T>G (n.*115-5T>G)
c.2052-5T>G (n.2052-5T>G)
c.2065T>G (p.Ser689Ala)
c.1954T>G (p.Ser652Ala)
c.1900T>G (p.Ser634Ala)
6g.30897375C>ACA363138027DDR1c.1998-4C>A (n.1998-4C>A)
c.1887-4C>A (n.1887-4C>A)
c.1194-4C>A (n.1194-4C>A)
c.1560-4C>A (n.1560-4C>A)
c.*1055-4C>A (n.*1055-4C>A)
c.68-4C>A
c.1941-4C>A (n.1941-4C>A)
c.2012C>A (p.Ser671Tyr)
c.486C>A
c.*115-4C>A (n.*115-4C>A)
c.2052-4C>A (n.2052-4C>A)
c.2066C>A (p.Ser689Tyr)
c.1955C>A (p.Ser652Tyr)
c.1901C>A (p.Ser634Tyr)
6g.30897375C>GCA363138032DDR1c.1998-4C>G (n.1998-4C>G)
c.1887-4C>G (n.1887-4C>G)
c.1194-4C>G (n.1194-4C>G)
c.1560-4C>G (n.1560-4C>G)
c.*1055-4C>G (n.*1055-4C>G)
c.68-4C>G
c.1941-4C>G (n.1941-4C>G)
c.2012C>G (p.Ser671Cys)
c.486C>G
c.*115-4C>G (n.*115-4C>G)
c.2052-4C>G (n.2052-4C>G)
c.2066C>G (p.Ser689Cys)
c.1955C>G (p.Ser652Cys)
c.1901C>G (p.Ser634Cys)
6g.30897375C>TCA363138030DDR1c.1998-4C>T (n.1998-4C>T)
c.1887-4C>T (n.1887-4C>T)
c.1194-4C>T (n.1194-4C>T)
c.1560-4C>T (n.1560-4C>T)
c.*1055-4C>T (n.*1055-4C>T)
c.68-4C>T
c.1941-4C>T (n.1941-4C>T)
c.2012C>T (p.Ser671Phe)
c.486C>T
c.*115-4C>T (n.*115-4C>T)
c.2052-4C>T (n.2052-4C>T)
c.2066C>T (p.Ser689Phe)
c.1955C>T (p.Ser652Phe)
c.1901C>T (p.Ser634Phe)
gnomAD v4
6g.30897376C>ACA449778483DDR1c.1998-3C>A (n.1998-3C>A)
c.1887-3C>A (n.1887-3C>A)
c.1194-3C>A (n.1194-3C>A)
c.1560-3C>A (n.1560-3C>A)
c.*1055-3C>A (n.*1055-3C>A)
c.68-3C>A
c.1941-3C>A (n.1941-3C>A)
c.2013C>A (p.Ser671=)
c.487C>A
c.*115-3C>A (n.*115-3C>A)
c.2052-3C>A (n.2052-3C>A)
c.2067C>A (p.Ser689=)
c.1956C>A (p.Ser652=)
c.1902C>A (p.Ser634=)
6g.30897376C>GCA449778484DDR1c.1998-3C>G (n.1998-3C>G)
c.1887-3C>G (n.1887-3C>G)
c.1194-3C>G (n.1194-3C>G)
c.1560-3C>G (n.1560-3C>G)
c.*1055-3C>G (n.*1055-3C>G)
c.68-3C>G
c.1941-3C>G (n.1941-3C>G)
c.2013C>G (p.Ser671=)
c.487C>G
c.*115-3C>G (n.*115-3C>G)
c.2052-3C>G (n.2052-3C>G)
c.2067C>G (p.Ser689=)
c.1956C>G (p.Ser652=)
c.1902C>G (p.Ser634=)
6g.30897376C>TCA449778486DDR1c.1998-3C>T (n.1998-3C>T)
c.1887-3C>T (n.1887-3C>T)
c.1194-3C>T (n.1194-3C>T)
c.1560-3C>T (n.1560-3C>T)
c.*1055-3C>T (n.*1055-3C>T)
c.68-3C>T
c.1941-3C>T (n.1941-3C>T)
c.2013C>T (p.Ser671=)
c.487C>T
c.*115-3C>T (n.*115-3C>T)
c.2052-3C>T (n.2052-3C>T)
c.2067C>T (p.Ser689=)
c.1956C>T (p.Ser652=)
c.1902C>T (p.Ser634=)
6g.30897377A=CA1618917790DDR1c.1998-2A= (n.1998-2A=)
c.1887-2A= (n.1887-2A=)
c.1194-2A= (n.1194-2A=)
c.1560-2A= (n.1560-2A=)
c.*1055-2A= (n.*1055-2A=)
c.68-2A=
c.1941-2A= (n.1941-2A=)
c.2014A= (p.Arg672=)
c.488A=
c.*115-2A= (n.*115-2A=)
c.2052-2A= (n.2052-2A=)
c.2068A= (p.Arg690=)
c.1957A= (p.Arg653=)
c.1903A= (p.Arg635=)
6g.30897377A>CCA363138036DDR1c.1998-2A>C (n.1998-2A>C)
c.1887-2A>C (n.1887-2A>C)
c.1194-2A>C (n.1194-2A>C)
c.1560-2A>C (n.1560-2A>C)
c.*1055-2A>C (n.*1055-2A>C)
c.68-2A>C
c.1941-2A>C (n.1941-2A>C)
c.2014A>C (p.Arg672=)
c.488A>C
c.*115-2A>C (n.*115-2A>C)
c.2052-2A>C (n.2052-2A>C)
c.2068A>C (p.Arg690=)
c.1957A>C (p.Arg653=)
c.1903A>C (p.Arg635=)
6g.30897377A>GCA363138041DDR1c.1998-2A>G (n.1998-2A>G)
c.1887-2A>G (n.1887-2A>G)
c.1194-2A>G (n.1194-2A>G)
c.1560-2A>G (n.1560-2A>G)
c.*1055-2A>G (n.*1055-2A>G)
c.68-2A>G
c.1941-2A>G (n.1941-2A>G)
c.2014A>G (p.Arg672Gly)
c.488A>G
c.*115-2A>G (n.*115-2A>G)
c.2052-2A>G (n.2052-2A>G)
c.2068A>G (p.Arg690Gly)
c.1957A>G (p.Arg653Gly)
c.1903A>G (p.Arg635Gly)
dbSNP gnomAD v4
6g.30897377A>TCA363138038DDR1c.1998-2A>T (n.1998-2A>T)
c.1887-2A>T (n.1887-2A>T)
c.1194-2A>T (n.1194-2A>T)
c.1560-2A>T (n.1560-2A>T)
c.*1055-2A>T (n.*1055-2A>T)
c.68-2A>T
c.1941-2A>T (n.1941-2A>T)
c.2014A>T (p.Arg672Trp)
c.488A>T
c.*115-2A>T (n.*115-2A>T)
c.2052-2A>T (n.2052-2A>T)
c.2068A>T (p.Arg690Trp)
c.1957A>T (p.Arg653Trp)
c.1903A>T (p.Arg635Trp)
6g.30897378G>ACA363138044DDR1c.1998-1G>A (n.1998-1G>A)
c.1887-1G>A (n.1887-1G>A)
c.1194-1G>A (n.1194-1G>A)
c.1560-1G>A (n.1560-1G>A)
c.*1055-1G>A (n.*1055-1G>A)
c.68-1G>A
c.1941-1G>A (n.1941-1G>A)
c.2015G>A (p.Arg672Lys)
c.489G>A
c.*115-1G>A (n.*115-1G>A)
c.2052-1G>A (n.2052-1G>A)
c.2069G>A (p.Arg690Lys)
c.1958G>A (p.Arg653Lys)
c.1904G>A (p.Arg635Lys)
6g.30897378G>CCA363138047DDR1c.1998-1G>C (n.1998-1G>C)
c.1887-1G>C (n.1887-1G>C)
c.1194-1G>C (n.1194-1G>C)
c.1560-1G>C (n.1560-1G>C)
c.*1055-1G>C (n.*1055-1G>C)
c.68-1G>C
c.1941-1G>C (n.1941-1G>C)
c.2015G>C (p.Arg672Thr)
c.489G>C
c.*115-1G>C (n.*115-1G>C)
c.2052-1G>C (n.2052-1G>C)
c.2069G>C (p.Arg690Thr)
c.1958G>C (p.Arg653Thr)
c.1904G>C (p.Arg635Thr)
6g.30897378G>TCA363138049DDR1c.1998-1G>T (n.1998-1G>T)
c.1887-1G>T (n.1887-1G>T)
c.1194-1G>T (n.1194-1G>T)
c.1560-1G>T (n.1560-1G>T)
c.*1055-1G>T (n.*1055-1G>T)
c.68-1G>T
c.1941-1G>T (n.1941-1G>T)
c.2015G>T (p.Arg672Met)
c.489G>T
c.*115-1G>T (n.*115-1G>T)
c.2052-1G>T (n.2052-1G>T)
c.2069G>T (p.Arg690Met)
c.1958G>T (p.Arg653Met)
c.1904G>T (p.Arg635Met)
6g.30897379G>ACA449778490DDR1c.1998G>A (p.Arg666=)
c.1887G>A (p.Arg629=)
c.1194G>A (p.Arg398=)
c.1560G>A (p.Arg520=)
c.*1055G>A (n.*1055G>A)
c.68G>A
c.1941G>A (p.Arg647=)
c.2016G>A (p.Arg672=)
c.490G>A
c.*115G>A (n.*115G>A)
c.2052G>A (p.Arg684=)
c.2070G>A (p.Arg690=)
c.1959G>A (p.Arg653=)
c.1905G>A (p.Arg635=)
dbSNP gnomAD v2 gnomAD v4
6g.30897379G>CCA363138052DDR1c.1998G>C (p.Arg666Ser)
c.1887G>C (p.Arg629Ser)
c.1194G>C (p.Arg398Ser)
c.1560G>C (p.Arg520Ser)
c.*1055G>C (n.*1055G>C)
c.68G>C
c.1941G>C (p.Arg647Ser)
c.2016G>C (p.Arg672Ser)
c.490G>C
c.*115G>C (n.*115G>C)
c.2052G>C (p.Arg684Ser)
c.2070G>C (p.Arg690Ser)
c.1959G>C (p.Arg653Ser)
c.1905G>C (p.Arg635Ser)
dbSNP
6g.30897379G=CA1618917791DDR1c.1998G= (p.Arg666=)
c.1887G= (p.Arg629=)
c.1194G= (p.Arg398=)
c.1560G= (p.Arg520=)
c.*1055G= (n.*1055G=)
c.68G=
c.1941G= (p.Arg647=)
c.2016G= (p.Arg672=)
c.490G=
c.*115G= (n.*115G=)
c.2052G= (p.Arg684=)
c.2070G= (p.Arg690=)
c.1959G= (p.Arg653=)
c.1905G= (p.Arg635=)
6g.30897379G>TCA363138054DDR1c.1998G>T (p.Arg666Ser)
c.1887G>T (p.Arg629Ser)
c.1194G>T (p.Arg398Ser)
c.1560G>T (p.Arg520Ser)
c.*1055G>T (n.*1055G>T)
c.68G>T
c.1941G>T (p.Arg647Ser)
c.2016G>T (p.Arg672Ser)
c.490G>T
c.*115G>T (n.*115G>T)
c.2052G>T (p.Arg684Ser)
c.2070G>T (p.Arg690Ser)
c.1959G>T (p.Arg653Ser)
c.1905G>T (p.Arg635Ser)
6g.30897380A>CCA363138058DDR1c.1999A>C (p.Asn667His)
c.1888A>C (p.Asn630His)
c.1195A>C (p.Asn399His)
c.1561A>C (p.Asn521His)
c.*1056A>C (n.*1056A>C)
c.69A>C
c.1942A>C (p.Asn648His)
c.2017A>C (p.Asn673His)
c.491A>C
c.*116A>C (n.*116A>C)
c.2053A>C (p.Asn685His)
c.2071A>C (p.Asn691His)
c.1960A>C (p.Asn654His)
c.1906A>C (p.Asn636His)
6g.30897380A>GCA363138060DDR1c.1999A>G (p.Asn667Asp)
c.1888A>G (p.Asn630Asp)
c.1195A>G (p.Asn399Asp)
c.1561A>G (p.Asn521Asp)
c.*1056A>G (n.*1056A>G)
c.69A>G
c.1942A>G (p.Asn648Asp)
c.2017A>G (p.Asn673Asp)
c.491A>G
c.*116A>G (n.*116A>G)
c.2053A>G (p.Asn685Asp)
c.2071A>G (p.Asn691Asp)
c.1960A>G (p.Asn654Asp)
c.1906A>G (p.Asn636Asp)
6g.30897380A>TCA363138063DDR1c.1999A>T (p.Asn667Tyr)
c.1888A>T (p.Asn630Tyr)
c.1195A>T (p.Asn399Tyr)
c.1561A>T (p.Asn521Tyr)
c.*1056A>T (n.*1056A>T)
c.69A>T
c.1942A>T (p.Asn648Tyr)
c.2017A>T (p.Asn673Tyr)
c.491A>T
c.*116A>T (n.*116A>T)
c.2053A>T (p.Asn685Tyr)
c.2071A>T (p.Asn691Tyr)
c.1960A>T (p.Asn654Tyr)
c.1906A>T (p.Asn636Tyr)
6g.30897381A>CCA363138066DDR1c.2000A>C (p.Asn667Thr)
c.1889A>C (p.Asn630Thr)
c.1196A>C (p.Asn399Thr)
c.1562A>C (p.Asn521Thr)
c.*1057A>C (n.*1057A>C)
c.70A>C
c.1943A>C (p.Asn648Thr)
c.2018A>C (p.Asn673Thr)
c.492A>C
c.*117A>C (n.*117A>C)
c.2054A>C (p.Asn685Thr)
c.2072A>C (p.Asn691Thr)
c.1961A>C (p.Asn654Thr)
c.1907A>C (p.Asn636Thr)
6g.30897381A>GCA363138069DDR1c.2000A>G (p.Asn667Ser)
c.1889A>G (p.Asn630Ser)
c.1196A>G (p.Asn399Ser)
c.1562A>G (p.Asn521Ser)
c.*1057A>G (n.*1057A>G)
c.70A>G
c.1943A>G (p.Asn648Ser)
c.2018A>G (p.Asn673Ser)
c.492A>G
c.*117A>G (n.*117A>G)
c.2054A>G (p.Asn685Ser)
c.2072A>G (p.Asn691Ser)
c.1961A>G (p.Asn654Ser)
c.1907A>G (p.Asn636Ser)
6g.30897381A>TCA363138072DDR1c.2000A>T (p.Asn667Ile)
c.1889A>T (p.Asn630Ile)
c.1196A>T (p.Asn399Ile)
c.1562A>T (p.Asn521Ile)
c.*1057A>T (n.*1057A>T)
c.70A>T
c.1943A>T (p.Asn648Ile)
c.2018A>T (p.Asn673Ile)
c.492A>T
c.*117A>T (n.*117A>T)
c.2054A>T (p.Asn685Ile)
c.2072A>T (p.Asn691Ile)
c.1961A>T (p.Asn654Ile)
c.1907A>T (p.Asn636Ile)
6g.30897382T>ACA363138077DDR1c.2001T>A (p.Asn667Lys)
c.1890T>A (p.Asn630Lys)
c.1197T>A (p.Asn399Lys)
c.1563T>A (p.Asn521Lys)
c.*1058T>A (n.*1058T>A)
c.71T>A
c.1944T>A (p.Asn648Lys)
c.2019T>A (p.Asn673Lys)
c.493T>A
c.*118T>A (n.*118T>A)
c.2055T>A (p.Asn685Lys)
c.2073T>A (p.Asn691Lys)
c.1962T>A (p.Asn654Lys)
c.1908T>A (p.Asn636Lys)
6g.30897382T>CCA449778494DDR1c.2001T>C (p.Asn667=)
c.1890T>C (p.Asn630=)
c.1197T>C (p.Asn399=)
c.1563T>C (p.Asn521=)
c.*1058T>C (n.*1058T>C)
c.71T>C
c.1944T>C (p.Asn648=)
c.2019T>C (p.Asn673=)
c.493T>C
c.*118T>C (n.*118T>C)
c.2055T>C (p.Asn685=)
c.2073T>C (p.Asn691=)
c.1962T>C (p.Asn654=)
c.1908T>C (p.Asn636=)
dbSNP gnomAD v3 gnomAD v4
6g.30897382T>GCA363138075DDR1c.2001T>G (p.Asn667Lys)
c.1890T>G (p.Asn630Lys)
c.1197T>G (p.Asn399Lys)
c.1563T>G (p.Asn521Lys)
c.*1058T>G (n.*1058T>G)
c.71T>G
c.1944T>G (p.Asn648Lys)
c.2019T>G (p.Asn673Lys)
c.493T>G
c.*118T>G (n.*118T>G)
c.2055T>G (p.Asn685Lys)
c.2073T>G (p.Asn691Lys)
c.1962T>G (p.Asn654Lys)
c.1908T>G (p.Asn636Lys)
6g.30897382T=CA1618917792DDR1c.2001T= (p.Asn667=)
c.1890T= (p.Asn630=)
c.1197T= (p.Asn399=)
c.1563T= (p.Asn521=)
c.*1058T= (n.*1058T=)
c.71T=
c.1944T= (p.Asn648=)
c.2019T= (p.Asn673=)
c.493T=
c.*118T= (n.*118T=)
c.2055T= (p.Asn685=)
c.2073T= (p.Asn691=)
c.1962T= (p.Asn654=)
c.1908T= (p.Asn636=)
6g.30897383G>ACA363138080DDR1c.2002G>A (p.Asp668Asn)
c.1891G>A (p.Asp631Asn)
c.1198G>A (p.Asp400Asn)
c.1564G>A (p.Asp522Asn)
c.*1059G>A (n.*1059G>A)
c.72G>A
c.1945G>A (p.Asp649Asn)
c.2020G>A (p.Asp674Asn)
c.494G>A
c.*119G>A (n.*119G>A)
c.2056G>A (p.Asp686Asn)
c.2074G>A (p.Asp692Asn)
c.1963G>A (p.Asp655Asn)
c.1909G>A (p.Asp637Asn)
6g.30897383G>CCA363138081DDR1c.2002G>C (p.Asp668His)
c.1891G>C (p.Asp631His)
c.1198G>C (p.Asp400His)
c.1564G>C (p.Asp522His)
c.*1059G>C (n.*1059G>C)
c.72G>C
c.1945G>C (p.Asp649His)
c.2020G>C (p.Asp674His)
c.494G>C
c.*119G>C (n.*119G>C)
c.2056G>C (p.Asp686His)
c.2074G>C (p.Asp692His)
c.1963G>C (p.Asp655His)
c.1909G>C (p.Asp637His)
6g.30897383G>TCA363138084DDR1c.2002G>T (p.Asp668Tyr)
c.1891G>T (p.Asp631Tyr)
c.1198G>T (p.Asp400Tyr)
c.1564G>T (p.Asp522Tyr)
c.*1059G>T (n.*1059G>T)
c.72G>T
c.1945G>T (p.Asp649Tyr)
c.2020G>T (p.Asp674Tyr)
c.494G>T
c.*119G>T (n.*119G>T)
c.2056G>T (p.Asp686Tyr)
c.2074G>T (p.Asp692Tyr)
c.1963G>T (p.Asp655Tyr)
c.1909G>T (p.Asp637Tyr)
6g.30897384A>CCA363138087DDR1c.2003A>C (p.Asp668Ala)
c.1892A>C (p.Asp631Ala)
c.1199A>C (p.Asp400Ala)
c.1565A>C (p.Asp522Ala)
c.*1060A>C (n.*1060A>C)
c.73A>C
c.1946A>C (p.Asp649Ala)
c.2021A>C (p.Asp674Ala)
c.495A>C
c.*120A>C (n.*120A>C)
c.2057A>C (p.Asp686Ala)
c.2075A>C (p.Asp692Ala)
c.1964A>C (p.Asp655Ala)
c.1910A>C (p.Asp637Ala)
6g.30897384A>GCA363138090DDR1c.2003A>G (p.Asp668Gly)
c.1892A>G (p.Asp631Gly)
c.1199A>G (p.Asp400Gly)
c.1565A>G (p.Asp522Gly)
c.*1060A>G (n.*1060A>G)
c.73A>G
c.1946A>G (p.Asp649Gly)
c.2021A>G (p.Asp674Gly)
c.495A>G
c.*120A>G (n.*120A>G)
c.2057A>G (p.Asp686Gly)
c.2075A>G (p.Asp692Gly)
c.1964A>G (p.Asp655Gly)
c.1910A>G (p.Asp637Gly)
gnomAD v4
6g.30897384A>TCA363138092DDR1c.2003A>T (p.Asp668Val)
c.1892A>T (p.Asp631Val)
c.1199A>T (p.Asp400Val)
c.1565A>T (p.Asp522Val)
c.*1060A>T (n.*1060A>T)
c.73A>T
c.1946A>T (p.Asp649Val)
c.2021A>T (p.Asp674Val)
c.495A>T
c.*120A>T (n.*120A>T)
c.2057A>T (p.Asp686Val)
c.2075A>T (p.Asp692Val)
c.1964A>T (p.Asp655Val)
c.1910A>T (p.Asp637Val)
6g.30897385T>ACA363138095DDR1c.2004T>A (p.Asp668Glu)
c.1893T>A (p.Asp631Glu)
c.1200T>A (p.Asp400Glu)
c.1566T>A (p.Asp522Glu)
c.*1061T>A (n.*1061T>A)
c.74T>A
c.1947T>A (p.Asp649Glu)
c.2022T>A (p.Asp674Glu)
c.496T>A
c.*121T>A (n.*121T>A)
c.2058T>A (p.Asp686Glu)
c.2076T>A (p.Asp692Glu)
c.1965T>A (p.Asp655Glu)
c.1911T>A (p.Asp637Glu)
6g.30897385T>CCA449778497DDR1c.2004T>C (p.Asp668=)
c.1893T>C (p.Asp631=)
c.1200T>C (p.Asp400=)
c.1566T>C (p.Asp522=)
c.*1061T>C (n.*1061T>C)
c.74T>C
c.1947T>C (p.Asp649=)
c.2022T>C (p.Asp674=)
c.496T>C
c.*121T>C (n.*121T>C)
c.2058T>C (p.Asp686=)
c.2076T>C (p.Asp692=)
c.1965T>C (p.Asp655=)
c.1911T>C (p.Asp637=)
6g.30897385T>GCA363138097DDR1c.2004T>G (p.Asp668Glu)
c.1893T>G (p.Asp631Glu)
c.1200T>G (p.Asp400Glu)
c.1566T>G (p.Asp522Glu)
c.*1061T>G (n.*1061T>G)
c.74T>G
c.1947T>G (p.Asp649Glu)
c.2022T>G (p.Asp674Glu)
c.496T>G
c.*121T>G (n.*121T>G)
c.2058T>G (p.Asp686Glu)
c.2076T>G (p.Asp692Glu)
c.1965T>G (p.Asp655Glu)
c.1911T>G (p.Asp637Glu)
gnomAD v4
6g.30897386T>ACA363138102DDR1c.2005T>A (p.Phe669Ile)
c.1894T>A (p.Phe632Ile)
c.1201T>A (p.Phe401Ile)
c.1567T>A (p.Phe523Ile)
c.*1062T>A (n.*1062T>A)
c.75T>A
c.1948T>A (p.Phe650Ile)
c.2023T>A (p.Phe675Ile)
c.497T>A
c.*122T>A (n.*122T>A)
c.2059T>A (p.Phe687Ile)
c.2077T>A (p.Phe693Ile)
c.1966T>A (p.Phe656Ile)
c.1912T>A (p.Phe638Ile)
6g.30897386T>CCA363138104DDR1c.2005T>C (p.Phe669Leu)
c.1894T>C (p.Phe632Leu)
c.1201T>C (p.Phe401Leu)
c.1567T>C (p.Phe523Leu)
c.*1062T>C (n.*1062T>C)
c.75T>C
c.1948T>C (p.Phe650Leu)
c.2023T>C (p.Phe675Leu)
c.497T>C
c.*122T>C (n.*122T>C)
c.2059T>C (p.Phe687Leu)
c.2077T>C (p.Phe693Leu)
c.1966T>C (p.Phe656Leu)
c.1912T>C (p.Phe638Leu)
6g.30897386T>GCA363138106DDR1c.2005T>G (p.Phe669Val)
c.1894T>G (p.Phe632Val)
c.1201T>G (p.Phe401Val)
c.1567T>G (p.Phe523Val)
c.*1062T>G (n.*1062T>G)
c.75T>G
c.1948T>G (p.Phe650Val)
c.2023T>G (p.Phe675Val)
c.497T>G
c.*122T>G (n.*122T>G)
c.2059T>G (p.Phe687Val)
c.2077T>G (p.Phe693Val)
c.1966T>G (p.Phe656Val)
c.1912T>G (p.Phe638Val)
6g.30897387T>ACA363138111DDR1c.2006T>A (p.Phe669Tyr)
c.1895T>A (p.Phe632Tyr)
c.1202T>A (p.Phe401Tyr)
c.1568T>A (p.Phe523Tyr)
c.*1063T>A (n.*1063T>A)
c.76T>A
c.1949T>A (p.Phe650Tyr)
c.2024T>A (p.Phe675Tyr)
c.498T>A
c.*123T>A (n.*123T>A)
c.2060T>A (p.Phe687Tyr)
c.2078T>A (p.Phe693Tyr)
c.1967T>A (p.Phe656Tyr)
c.1913T>A (p.Phe638Tyr)
6g.30897387T>CCA363138115DDR1c.2006T>C (p.Phe669Ser)
c.1895T>C (p.Phe632Ser)
c.1202T>C (p.Phe401Ser)
c.1568T>C (p.Phe523Ser)
c.*1063T>C (n.*1063T>C)
c.76T>C
c.1949T>C (p.Phe650Ser)
c.2024T>C (p.Phe675Ser)
c.498T>C
c.*123T>C (n.*123T>C)
c.2060T>C (p.Phe687Ser)
c.2078T>C (p.Phe693Ser)
c.1967T>C (p.Phe656Ser)
c.1913T>C (p.Phe638Ser)
6g.30897387T>GCA363138110DDR1c.2006T>G (p.Phe669Cys)
c.1895T>G (p.Phe632Cys)
c.1202T>G (p.Phe401Cys)
c.1568T>G (p.Phe523Cys)
c.*1063T>G (n.*1063T>G)
c.76T>G
c.1949T>G (p.Phe650Cys)
c.2024T>G (p.Phe675Cys)
c.498T>G
c.*123T>G (n.*123T>G)
c.2060T>G (p.Phe687Cys)
c.2078T>G (p.Phe693Cys)
c.1967T>G (p.Phe656Cys)
c.1913T>G (p.Phe638Cys)
6g.30897388C>ACA363138118DDR1c.2007C>A (p.Phe669Leu)
c.1896C>A (p.Phe632Leu)
c.1203C>A (p.Phe401Leu)
c.1569C>A (p.Phe523Leu)
c.*1064C>A (n.*1064C>A)
c.77C>A
c.1950C>A (p.Phe650Leu)
c.2025C>A (p.Phe675Leu)
c.499C>A
c.*124C>A (n.*124C>A)
c.2061C>A (p.Phe687Leu)
c.2079C>A (p.Phe693Leu)
c.1968C>A (p.Phe656Leu)
c.1914C>A (p.Phe638Leu)
6g.30897388C>GCA363138121DDR1c.2007C>G (p.Phe669Leu)
c.1896C>G (p.Phe632Leu)
c.1203C>G (p.Phe401Leu)
c.1569C>G (p.Phe523Leu)
c.*1064C>G (n.*1064C>G)
c.77C>G
c.1950C>G (p.Phe650Leu)
c.2025C>G (p.Phe675Leu)
c.499C>G
c.*124C>G (n.*124C>G)
c.2061C>G (p.Phe687Leu)
c.2079C>G (p.Phe693Leu)
c.1968C>G (p.Phe656Leu)
c.1914C>G (p.Phe638Leu)
6g.30897388C>TCA449778503DDR1c.2007C>T (p.Phe669=)
c.1896C>T (p.Phe632=)
c.1203C>T (p.Phe401=)
c.1569C>T (p.Phe523=)
c.*1064C>T (n.*1064C>T)
c.77C>T
c.1950C>T (p.Phe650=)
c.2025C>T (p.Phe675=)
c.499C>T
c.*124C>T (n.*124C>T)
c.2061C>T (p.Phe687=)
c.2079C>T (p.Phe693=)
c.1968C>T (p.Phe656=)
c.1914C>T (p.Phe638=)
6g.30897389C>ACA363138124DDR1c.2008C>A (p.Leu670Met)
c.1897C>A (p.Leu633Met)
c.1204C>A (p.Leu402Met)
c.1570C>A (p.Leu524Met)
c.*1065C>A (n.*1065C>A)
c.78C>A
c.1951C>A (p.Leu651Met)
c.2026C>A (p.Leu676Met)
c.500C>A
c.*125C>A (n.*125C>A)
c.2062C>A (p.Leu688Met)
c.2080C>A (p.Leu694Met)
c.1969C>A (p.Leu657Met)
c.1915C>A (p.Leu639Met)
6g.30897389C=CA1618917793DDR1c.2008C= (p.Leu670=)
c.1897C= (p.Leu633=)
c.1204C= (p.Leu402=)
c.1570C= (p.Leu524=)
c.*1065C= (n.*1065C=)
c.78C=
c.1951C= (p.Leu651=)
c.2026C= (p.Leu676=)
c.500C=
c.*125C= (n.*125C=)
c.2062C= (p.Leu688=)
c.2080C= (p.Leu694=)
c.1969C= (p.Leu657=)
c.1915C= (p.Leu639=)
6g.30897389C>GCA363138126DDR1c.2008C>G (p.Leu670Val)
c.1897C>G (p.Leu633Val)
c.1204C>G (p.Leu402Val)
c.1570C>G (p.Leu524Val)
c.*1065C>G (n.*1065C>G)
c.78C>G
c.1951C>G (p.Leu651Val)
c.2026C>G (p.Leu676Val)
c.500C>G
c.*125C>G (n.*125C>G)
c.2062C>G (p.Leu688Val)
c.2080C>G (p.Leu694Val)
c.1969C>G (p.Leu657Val)
c.1915C>G (p.Leu639Val)
6g.30897389C>TCA3704773DDR1c.2008C>T (p.Leu670=)
c.1897C>T (p.Leu633=)
c.1204C>T (p.Leu402=)
c.1570C>T (p.Leu524=)
c.*1065C>T (n.*1065C>T)
c.78C>T
c.1951C>T (p.Leu651=)
c.2026C>T (p.Leu676=)
c.500C>T
c.*125C>T (n.*125C>T)
c.2062C>T (p.Leu688=)
c.2080C>T (p.Leu694=)
c.1969C>T (p.Leu657=)
c.1915C>T (p.Leu639=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.30897390T>ACA363138130DDR1c.2009T>A (p.Leu670Gln)
c.1898T>A (p.Leu633Gln)
c.1205T>A (p.Leu402Gln)
c.1571T>A (p.Leu524Gln)
c.*1066T>A (n.*1066T>A)
c.79T>A
c.1952T>A (p.Leu651Gln)
c.2027T>A (p.Leu676Gln)
c.501T>A
c.*126T>A (n.*126T>A)
c.2063T>A (p.Leu688Gln)
c.2081T>A (p.Leu694Gln)
c.1970T>A (p.Leu657Gln)
c.1916T>A (p.Leu639Gln)
6g.30897390T>CCA363138132DDR1c.2009T>C (p.Leu670Pro)
c.1898T>C (p.Leu633Pro)
c.1205T>C (p.Leu402Pro)
c.1571T>C (p.Leu524Pro)
c.*1066T>C (n.*1066T>C)
c.79T>C
c.1952T>C (p.Leu651Pro)
c.2027T>C (p.Leu676Pro)
c.501T>C
c.*126T>C (n.*126T>C)
c.2063T>C (p.Leu688Pro)
c.2081T>C (p.Leu694Pro)
c.1970T>C (p.Leu657Pro)
c.1916T>C (p.Leu639Pro)
6g.30897390T>GCA363138135DDR1c.2009T>G (p.Leu670Arg)
c.1898T>G (p.Leu633Arg)
c.1205T>G (p.Leu402Arg)
c.1571T>G (p.Leu524Arg)
c.*1066T>G (n.*1066T>G)
c.79T>G
c.1952T>G (p.Leu651Arg)
c.2027T>G (p.Leu676Arg)
c.501T>G
c.*126T>G (n.*126T>G)
c.2063T>G (p.Leu688Arg)
c.2081T>G (p.Leu694Arg)
c.1970T>G (p.Leu657Arg)
c.1916T>G (p.Leu639Arg)
6g.30897391G>ACA449778508DDR1c.2010G>A (p.Leu670=)
c.1899G>A (p.Leu633=)
c.1206G>A (p.Leu402=)
c.1572G>A (p.Leu524=)
c.*1067G>A (n.*1067G>A)
c.80G>A
c.1953G>A (p.Leu651=)
c.2028G>A (p.Leu676=)
c.502G>A
c.*127G>A (n.*127G>A)
c.2064G>A (p.Leu688=)
c.2082G>A (p.Leu694=)
c.1971G>A (p.Leu657=)
c.1917G>A (p.Leu639=)
6g.30897391G>CCA449778506DDR1c.2010G>C (p.Leu670=)
c.1899G>C (p.Leu633=)
c.1206G>C (p.Leu402=)
c.1572G>C (p.Leu524=)
c.*1067G>C (n.*1067G>C)
c.80G>C
c.1953G>C (p.Leu651=)
c.2028G>C (p.Leu676=)
c.502G>C
c.*127G>C (n.*127G>C)
c.2064G>C (p.Leu688=)
c.2082G>C (p.Leu694=)
c.1971G>C (p.Leu657=)
c.1917G>C (p.Leu639=)
dbSNP
6g.30897391G>TCA449778507DDR1c.2010G>T (p.Leu670=)
c.1899G>T (p.Leu633=)
c.1206G>T (p.Leu402=)
c.1572G>T (p.Leu524=)
c.*1067G>T (n.*1067G>T)
c.80G>T
c.1953G>T (p.Leu651=)
c.2028G>T (p.Leu676=)
c.502G>T
c.*127G>T (n.*127G>T)
c.2064G>T (p.Leu688=)
c.2082G>T (p.Leu694=)
c.1971G>T (p.Leu657=)
c.1917G>T (p.Leu639=)
6g.30897392A>CCA363138138DDR1c.2011A>C (p.Lys671Gln)
c.1900A>C (p.Lys634Gln)
c.1207A>C (p.Lys403Gln)
c.1573A>C (p.Lys525Gln)
c.*1068A>C (n.*1068A>C)
c.81A>C
c.1954A>C (p.Lys652Gln)
c.2029A>C (p.Lys677Gln)
c.503A>C
c.*128A>C (n.*128A>C)
c.2065A>C (p.Lys689Gln)
c.2083A>C (p.Lys695Gln)
c.1972A>C (p.Lys658Gln)
c.1918A>C (p.Lys640Gln)
6g.30897392A>GCA363138140DDR1c.2011A>G (p.Lys671Glu)
c.1900A>G (p.Lys634Glu)
c.1207A>G (p.Lys403Glu)
c.1573A>G (p.Lys525Glu)
c.*1068A>G (n.*1068A>G)
c.81A>G
c.1954A>G (p.Lys652Glu)
c.2029A>G (p.Lys677Glu)
c.503A>G
c.*128A>G (n.*128A>G)
c.2065A>G (p.Lys689Glu)
c.2083A>G (p.Lys695Glu)
c.1972A>G (p.Lys658Glu)
c.1918A>G (p.Lys640Glu)
gnomAD v4
6g.30897392A>TCA363138142DDR1c.2011A>T (p.Lys671Ter)
c.1900A>T (p.Lys634Ter)
c.1207A>T (p.Lys403Ter)
c.1573A>T (p.Lys525Ter)
c.*1068A>T (n.*1068A>T)
c.81A>T
c.1954A>T (p.Lys652Ter)
c.2029A>T (p.Lys677Ter)
c.503A>T
c.*128A>T (n.*128A>T)
c.2065A>T (p.Lys689Ter)
c.2083A>T (p.Lys695Ter)
c.1972A>T (p.Lys658Ter)
c.1918A>T (p.Lys640Ter)
6g.30897393A=CA1618917795DDR1c.2012A= (p.Lys671=)
c.1901A= (p.Lys634=)
c.1208A= (p.Lys403=)
c.1574A= (p.Lys525=)
c.*1069A= (n.*1069A=)
c.82A=
c.1955A= (p.Lys652=)
c.2030A= (p.Lys677=)
c.504A=
c.*129A= (n.*129A=)
c.2066A= (p.Lys689=)
c.2084A= (p.Lys695=)
c.1973A= (p.Lys658=)
c.1919A= (p.Lys640=)
6g.30897393A>CCA363138149DDR1c.2012A>C (p.Lys671Thr)
c.1901A>C (p.Lys634Thr)
c.1208A>C (p.Lys403Thr)
c.1574A>C (p.Lys525Thr)
c.*1069A>C (n.*1069A>C)
c.82A>C
c.1955A>C (p.Lys652Thr)
c.2030A>C (p.Lys677Thr)
c.504A>C
c.*129A>C (n.*129A>C)
c.2066A>C (p.Lys689Thr)
c.2084A>C (p.Lys695Thr)
c.1973A>C (p.Lys658Thr)
c.1919A>C (p.Lys640Thr)
6g.30897393A>GCA363138152DDR1c.2012A>G (p.Lys671Arg)
c.1901A>G (p.Lys634Arg)
c.1208A>G (p.Lys403Arg)
c.1574A>G (p.Lys525Arg)
c.*1069A>G (n.*1069A>G)
c.82A>G
c.1955A>G (p.Lys652Arg)
c.2030A>G (p.Lys677Arg)
c.504A>G
c.*129A>G (n.*129A>G)
c.2066A>G (p.Lys689Arg)
c.2084A>G (p.Lys695Arg)
c.1973A>G (p.Lys658Arg)
c.1919A>G (p.Lys640Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897393A>TCA363138144DDR1c.2012A>T (p.Lys671Ile)
c.1901A>T (p.Lys634Ile)
c.1208A>T (p.Lys403Ile)
c.1574A>T (p.Lys525Ile)
c.*1069A>T (n.*1069A>T)
c.82A>T
c.1955A>T (p.Lys652Ile)
c.2030A>T (p.Lys677Ile)
c.504A>T
c.*129A>T (n.*129A>T)
c.2066A>T (p.Lys689Ile)
c.2084A>T (p.Lys695Ile)
c.1973A>T (p.Lys658Ile)
c.1919A>T (p.Lys640Ile)
6g.30897393_30897395delinsAAGCA1618917794DDR1c.2012_2014delinsAAG (p.Lys671=)
c.1901_1903delinsAAG (p.Lys634=)
c.1208_1210delinsAAG (p.Lys403=)
c.1574_1576delinsAAG (p.Lys525=)
c.*1069_*1071delinsAAG (n.*1069_*1071delinsAAG)
c.82_84delinsAAG
c.1955_1957delinsAAG (p.Lys652=)
c.2030_2032delinsAAG (p.Lys677=)
c.504_506delinsAAG
c.*129_*131delinsAAG (n.*129_*131delinsAAG)
c.2066_2068delinsAAG (p.Lys689=)
c.2084_2086delinsAAG (p.Lys695=)
c.1973_1975delinsAAG (p.Lys658=)
c.1919_1921delinsAAG (p.Lys640=)
6g.30897394A>CCA363138156DDR1c.2013A>C (p.Lys671Asn)
c.1902A>C (p.Lys634Asn)
c.1209A>C (p.Lys403Asn)
c.1575A>C (p.Lys525Asn)
c.*1070A>C (n.*1070A>C)
c.83A>C
c.1956A>C (p.Lys652Asn)
c.2031A>C (p.Lys677Asn)
c.505A>C
c.*130A>C (n.*130A>C)
c.2067A>C (p.Lys689Asn)
c.2085A>C (p.Lys695Asn)
c.1974A>C (p.Lys658Asn)
c.1920A>C (p.Lys640Asn)
6g.30897394A>GCA449778509DDR1c.2013A>G (p.Lys671=)
c.1902A>G (p.Lys634=)
c.1209A>G (p.Lys403=)
c.1575A>G (p.Lys525=)
c.*1070A>G (n.*1070A>G)
c.83A>G
c.1956A>G (p.Lys652=)
c.2031A>G (p.Lys677=)
c.505A>G
c.*130A>G (n.*130A>G)
c.2067A>G (p.Lys689=)
c.2085A>G (p.Lys695=)
c.1974A>G (p.Lys658=)
c.1920A>G (p.Lys640=)
6g.30897394A>TCA363138158DDR1c.2013A>T (p.Lys671Asn)
c.1902A>T (p.Lys634Asn)
c.1209A>T (p.Lys403Asn)
c.1575A>T (p.Lys525Asn)
c.*1070A>T (n.*1070A>T)
c.83A>T
c.1956A>T (p.Lys652Asn)
c.2031A>T (p.Lys677Asn)
c.505A>T
c.*130A>T (n.*130A>T)
c.2067A>T (p.Lys689Asn)
c.2085A>T (p.Lys695Asn)
c.1974A>T (p.Lys658Asn)
c.1920A>T (p.Lys640Asn)
6g.30897396_30897397delCA823836371DDR1c.2015_2016del (p.Glu672GlyfsTer30)
c.1904_1905del (p.Glu635GlyfsTer30)
c.1211_1212del (p.Glu404GlyfsTer30)
c.1577_1578del (p.Glu526GlyfsTer30)
c.*1072_*1073del (n.*1072_*1073del)
c.85_86del
c.1958_1959del (p.Glu653GlyfsTer30)
c.2033_2034del (p.Glu678GlyfsTer30)
c.507_508del
c.*132_*133del (n.*132_*133del)
c.2069_2070del (p.Glu690GlyfsTer30)
c.2087_2088del (p.Glu696GlyfsTer30)
c.1976_1977del (p.Glu659GlyfsTer30)
c.1922_1923del (p.Glu641GlyfsTer30)
dbSNP gnomAD v3 gnomAD v4
6g.30897395G>ACA363138163DDR1c.2014G>A (p.Glu672Lys)
c.1903G>A (p.Glu635Lys)
c.1210G>A (p.Glu404Lys)
c.1576G>A (p.Glu526Lys)
c.*1071G>A (n.*1071G>A)
c.84G>A
c.1957G>A (p.Glu653Lys)
c.2032G>A (p.Glu678Lys)
c.506G>A
c.*131G>A (n.*131G>A)
c.2068G>A (p.Glu690Lys)
c.2086G>A (p.Glu696Lys)
c.1975G>A (p.Glu659Lys)
c.1921G>A (p.Glu641Lys)
6g.30897395G>CCA363138165DDR1c.2014G>C (p.Glu672Gln)
c.1903G>C (p.Glu635Gln)
c.1210G>C (p.Glu404Gln)
c.1576G>C (p.Glu526Gln)
c.*1071G>C (n.*1071G>C)
c.84G>C
c.1957G>C (p.Glu653Gln)
c.2032G>C (p.Glu678Gln)
c.506G>C
c.*131G>C (n.*131G>C)
c.2068G>C (p.Glu690Gln)
c.2086G>C (p.Glu696Gln)
c.1975G>C (p.Glu659Gln)
c.1921G>C (p.Glu641Gln)
COSMIC COSMIC COSMIC
6g.30897395G>TCA363138167DDR1c.2014G>T (p.Glu672Ter)
c.1903G>T (p.Glu635Ter)
c.1210G>T (p.Glu404Ter)
c.1576G>T (p.Glu526Ter)
c.*1071G>T (n.*1071G>T)
c.84G>T
c.1957G>T (p.Glu653Ter)
c.2032G>T (p.Glu678Ter)
c.506G>T
c.*131G>T (n.*131G>T)
c.2068G>T (p.Glu690Ter)
c.2086G>T (p.Glu696Ter)
c.1975G>T (p.Glu659Ter)
c.1921G>T (p.Glu641Ter)
6g.30897396A>CCA363138178DDR1c.2015A>C (p.Glu672Ala)
c.1904A>C (p.Glu635Ala)
c.1211A>C (p.Glu404Ala)
c.1577A>C (p.Glu526Ala)
c.*1072A>C (n.*1072A>C)
c.85A>C
c.1958A>C (p.Glu653Ala)
c.2033A>C (p.Glu678Ala)
c.507A>C
c.*132A>C (n.*132A>C)
c.2069A>C (p.Glu690Ala)
c.2087A>C (p.Glu696Ala)
c.1976A>C (p.Glu659Ala)
c.1922A>C (p.Glu641Ala)
6g.30897396A>GCA363138173DDR1c.2015A>G (p.Glu672Gly)
c.1904A>G (p.Glu635Gly)
c.1211A>G (p.Glu404Gly)
c.1577A>G (p.Glu526Gly)
c.*1072A>G (n.*1072A>G)
c.85A>G
c.1958A>G (p.Glu653Gly)
c.2033A>G (p.Glu678Gly)
c.507A>G
c.*132A>G (n.*132A>G)
c.2069A>G (p.Glu690Gly)
c.2087A>G (p.Glu696Gly)
c.1976A>G (p.Glu659Gly)
c.1922A>G (p.Glu641Gly)
6g.30897396A>TCA363138175DDR1c.2015A>T (p.Glu672Val)
c.1904A>T (p.Glu635Val)
c.1211A>T (p.Glu404Val)
c.1577A>T (p.Glu526Val)
c.*1072A>T (n.*1072A>T)
c.85A>T
c.1958A>T (p.Glu653Val)
c.2033A>T (p.Glu678Val)
c.507A>T
c.*132A>T (n.*132A>T)
c.2069A>T (p.Glu690Val)
c.2087A>T (p.Glu696Val)
c.1976A>T (p.Glu659Val)
c.1922A>T (p.Glu641Val)
6g.30897397G>ACA449778513DDR1c.2016G>A (p.Glu672=)
c.1905G>A (p.Glu635=)
c.1212G>A (p.Glu404=)
c.1578G>A (p.Glu526=)
c.*1073G>A (n.*1073G>A)
c.86G>A
c.1959G>A (p.Glu653=)
c.2034G>A (p.Glu678=)
c.508G>A
c.*133G>A (n.*133G>A)
c.2070G>A (p.Glu690=)
c.2088G>A (p.Glu696=)
c.1977G>A (p.Glu659=)
c.1923G>A (p.Glu641=)
6g.30897397G>CCA363138183DDR1c.2016G>C (p.Glu672Asp)
c.1905G>C (p.Glu635Asp)
c.1212G>C (p.Glu404Asp)
c.1578G>C (p.Glu526Asp)
c.*1073G>C (n.*1073G>C)
c.86G>C
c.1959G>C (p.Glu653Asp)
c.2034G>C (p.Glu678Asp)
c.508G>C
c.*133G>C (n.*133G>C)
c.2070G>C (p.Glu690Asp)
c.2088G>C (p.Glu696Asp)
c.1977G>C (p.Glu659Asp)
c.1923G>C (p.Glu641Asp)
dbSNP
6g.30897397G=CA1618917796DDR1c.2016G= (p.Glu672=)
c.1905G= (p.Glu635=)
c.1212G= (p.Glu404=)
c.1578G= (p.Glu526=)
c.*1073G= (n.*1073G=)
c.86G=
c.1959G= (p.Glu653=)
c.2034G= (p.Glu678=)
c.508G=
c.*133G= (n.*133G=)
c.2070G= (p.Glu690=)
c.2088G= (p.Glu696=)
c.1977G= (p.Glu659=)
c.1923G= (p.Glu641=)
6g.30897397G>TCA363138184DDR1c.2016G>T (p.Glu672Asp)
c.1905G>T (p.Glu635Asp)
c.1212G>T (p.Glu404Asp)
c.1578G>T (p.Glu526Asp)
c.*1073G>T (n.*1073G>T)
c.86G>T
c.1959G>T (p.Glu653Asp)
c.2034G>T (p.Glu678Asp)
c.508G>T
c.*133G>T (n.*133G>T)
c.2070G>T (p.Glu690Asp)
c.2088G>T (p.Glu696Asp)
c.1977G>T (p.Glu659Asp)
c.1923G>T (p.Glu641Asp)
6g.30897398G>ACA363138188DDR1c.2017G>A (p.Val673Met)
c.1906G>A (p.Val636Met)
c.1213G>A (p.Val405Met)
c.1579G>A (p.Val527Met)
c.*1074G>A (n.*1074G>A)
c.87G>A
c.1960G>A (p.Val654Met)
c.2035G>A (p.Val679Met)
c.509G>A
c.*134G>A (n.*134G>A)
c.2071G>A (p.Val691Met)
c.2089G>A (p.Val697Met)
c.1978G>A (p.Val660Met)
c.1924G>A (p.Val642Met)
gnomAD v4
6g.30897398G>CCA363138191DDR1c.2017G>C (p.Val673Leu)
c.1906G>C (p.Val636Leu)
c.1213G>C (p.Val405Leu)
c.1579G>C (p.Val527Leu)
c.*1074G>C (n.*1074G>C)
c.87G>C
c.1960G>C (p.Val654Leu)
c.2035G>C (p.Val679Leu)
c.509G>C
c.*134G>C (n.*134G>C)
c.2071G>C (p.Val691Leu)
c.2089G>C (p.Val697Leu)
c.1978G>C (p.Val660Leu)
c.1924G>C (p.Val642Leu)
6g.30897398G=CA1618917797DDR1c.2017G= (p.Val673=)
c.1906G= (p.Val636=)
c.1213G= (p.Val405=)
c.1579G= (p.Val527=)
c.*1074G= (n.*1074G=)
c.87G=
c.1960G= (p.Val654=)
c.2035G= (p.Val679=)
c.509G=
c.*134G= (n.*134G=)
c.2071G= (p.Val691=)
c.2089G= (p.Val697=)
c.1978G= (p.Val660=)
c.1924G= (p.Val642=)
6g.30897398G>TCA363138195DDR1c.2017G>T (p.Val673Leu)
c.1906G>T (p.Val636Leu)
c.1213G>T (p.Val405Leu)
c.1579G>T (p.Val527Leu)
c.*1074G>T (n.*1074G>T)
c.87G>T
c.1960G>T (p.Val654Leu)
c.2035G>T (p.Val679Leu)
c.509G>T
c.*134G>T (n.*134G>T)
c.2071G>T (p.Val691Leu)
c.2089G>T (p.Val697Leu)
c.1978G>T (p.Val660Leu)
c.1924G>T (p.Val642Leu)
dbSNP gnomAD v2 gnomAD v4
6g.30897399T>ACA363138204DDR1c.2018T>A (p.Val673Glu)
c.1907T>A (p.Val636Glu)
c.1214T>A (p.Val405Glu)
c.1580T>A (p.Val527Glu)
c.*1075T>A (n.*1075T>A)
c.88T>A
c.1961T>A (p.Val654Glu)
c.2036T>A (p.Val679Glu)
c.510T>A
c.*135T>A (n.*135T>A)
c.2072T>A (p.Val691Glu)
c.2090T>A (p.Val697Glu)
c.1979T>A (p.Val660Glu)
c.1925T>A (p.Val642Glu)
6g.30897399T>CCA363138202DDR1c.2018T>C (p.Val673Ala)
c.1907T>C (p.Val636Ala)
c.1214T>C (p.Val405Ala)
c.1580T>C (p.Val527Ala)
c.*1075T>C (n.*1075T>C)
c.88T>C
c.1961T>C (p.Val654Ala)
c.2036T>C (p.Val679Ala)
c.510T>C
c.*135T>C (n.*135T>C)
c.2072T>C (p.Val691Ala)
c.2090T>C (p.Val697Ala)
c.1979T>C (p.Val660Ala)
c.1925T>C (p.Val642Ala)
6g.30897399T>GCA363138198DDR1c.2018T>G (p.Val673Gly)
c.1907T>G (p.Val636Gly)
c.1214T>G (p.Val405Gly)
c.1580T>G (p.Val527Gly)
c.*1075T>G (n.*1075T>G)
c.88T>G
c.1961T>G (p.Val654Gly)
c.2036T>G (p.Val679Gly)
c.510T>G
c.*135T>G (n.*135T>G)
c.2072T>G (p.Val691Gly)
c.2090T>G (p.Val697Gly)
c.1979T>G (p.Val660Gly)
c.1925T>G (p.Val642Gly)
6g.30897400G>ACA449778516DDR1c.2019G>A (p.Val673=)
c.1908G>A (p.Val636=)
c.1215G>A (p.Val405=)
c.1581G>A (p.Val527=)
c.*1076G>A (n.*1076G>A)
c.89G>A
c.1962G>A (p.Val654=)
c.2037G>A (p.Val679=)
c.511G>A
c.*136G>A (n.*136G>A)
c.2073G>A (p.Val691=)
c.2091G>A (p.Val697=)
c.1980G>A (p.Val660=)
c.1926G>A (p.Val642=)
dbSNP gnomAD v2 gnomAD v4
6g.30897400G>CCA449778517DDR1c.2019G>C (p.Val673=)
c.1908G>C (p.Val636=)
c.1215G>C (p.Val405=)
c.1581G>C (p.Val527=)
c.*1076G>C (n.*1076G>C)
c.89G>C
c.1962G>C (p.Val654=)
c.2037G>C (p.Val679=)
c.511G>C
c.*136G>C (n.*136G>C)
c.2073G>C (p.Val691=)
c.2091G>C (p.Val697=)
c.1980G>C (p.Val660=)
c.1926G>C (p.Val642=)
6g.30897400G=CA1618917798DDR1c.2019G= (p.Val673=)
c.1908G= (p.Val636=)
c.1215G= (p.Val405=)
c.1581G= (p.Val527=)
c.*1076G= (n.*1076G=)
c.89G=
c.1962G= (p.Val654=)
c.2037G= (p.Val679=)
c.511G=
c.*136G= (n.*136G=)
c.2073G= (p.Val691=)
c.2091G= (p.Val697=)
c.1980G= (p.Val660=)
c.1926G= (p.Val642=)
6g.30897400G>TCA449778518DDR1c.2019G>T (p.Val673=)
c.1908G>T (p.Val636=)
c.1215G>T (p.Val405=)
c.1581G>T (p.Val527=)
c.*1076G>T (n.*1076G>T)
c.89G>T
c.1962G>T (p.Val654=)
c.2037G>T (p.Val679=)
c.511G>T
c.*136G>T (n.*136G>T)
c.2073G>T (p.Val691=)
c.2091G>T (p.Val697=)
c.1980G>T (p.Val660=)
c.1926G>T (p.Val642=)
6g.30897401A>CCA363138208DDR1c.2020A>C (p.Lys674Gln)
c.1909A>C (p.Lys637Gln)
c.1216A>C (p.Lys406Gln)
c.1582A>C (p.Lys528Gln)
c.*1077A>C (n.*1077A>C)
c.90A>C
c.1963A>C (p.Lys655Gln)
c.2038A>C (p.Lys680Gln)
c.512A>C
c.*137A>C (n.*137A>C)
c.2074A>C (p.Lys692Gln)
c.2092A>C (p.Lys698Gln)
c.1981A>C (p.Lys661Gln)
c.1927A>C (p.Lys643Gln)
6g.30897401A>GCA363138215DDR1c.2020A>G (p.Lys674Glu)
c.1909A>G (p.Lys637Glu)
c.1216A>G (p.Lys406Glu)
c.1582A>G (p.Lys528Glu)
c.*1077A>G (n.*1077A>G)
c.90A>G
c.1963A>G (p.Lys655Glu)
c.2038A>G (p.Lys680Glu)
c.512A>G
c.*137A>G (n.*137A>G)
c.2074A>G (p.Lys692Glu)
c.2092A>G (p.Lys698Glu)
c.1981A>G (p.Lys661Glu)
c.1927A>G (p.Lys643Glu)
6g.30897401A>TCA363138211DDR1c.2020A>T (p.Lys674Ter)
c.1909A>T (p.Lys637Ter)
c.1216A>T (p.Lys406Ter)
c.1582A>T (p.Lys528Ter)
c.*1077A>T (n.*1077A>T)
c.90A>T
c.1963A>T (p.Lys655Ter)
c.2038A>T (p.Lys680Ter)
c.512A>T
c.*137A>T (n.*137A>T)
c.2074A>T (p.Lys692Ter)
c.2092A>T (p.Lys698Ter)
c.1981A>T (p.Lys661Ter)
c.1927A>T (p.Lys643Ter)
6g.30897402A>CCA363138219DDR1c.2021A>C (p.Lys674Thr)
c.1910A>C (p.Lys637Thr)
c.1217A>C (p.Lys406Thr)
c.1583A>C (p.Lys528Thr)
c.*1078A>C (n.*1078A>C)
c.91A>C
c.1964A>C (p.Lys655Thr)
c.2039A>C (p.Lys680Thr)
c.513A>C
c.*138A>C (n.*138A>C)
c.2075A>C (p.Lys692Thr)
c.2093A>C (p.Lys698Thr)
c.1982A>C (p.Lys661Thr)
c.1928A>C (p.Lys643Thr)
6g.30897402A>GCA363138221DDR1c.2021A>G (p.Lys674Arg)
c.1910A>G (p.Lys637Arg)
c.1217A>G (p.Lys406Arg)
c.1583A>G (p.Lys528Arg)
c.*1078A>G (n.*1078A>G)
c.91A>G
c.1964A>G (p.Lys655Arg)
c.2039A>G (p.Lys680Arg)
c.513A>G
c.*138A>G (n.*138A>G)
c.2075A>G (p.Lys692Arg)
c.2093A>G (p.Lys698Arg)
c.1982A>G (p.Lys661Arg)
c.1928A>G (p.Lys643Arg)
6g.30897402A>TCA363138224DDR1c.2021A>T (p.Lys674Met)
c.1910A>T (p.Lys637Met)
c.1217A>T (p.Lys406Met)
c.1583A>T (p.Lys528Met)
c.*1078A>T (n.*1078A>T)
c.91A>T
c.1964A>T (p.Lys655Met)
c.2039A>T (p.Lys680Met)
c.513A>T
c.*138A>T (n.*138A>T)
c.2075A>T (p.Lys692Met)
c.2093A>T (p.Lys698Met)
c.1982A>T (p.Lys661Met)
c.1928A>T (p.Lys643Met)
6g.30897403G>ACA449778526DDR1c.2022G>A (p.Lys674=)
c.1911G>A (p.Lys637=)
c.1218G>A (p.Lys406=)
c.1584G>A (p.Lys528=)
c.*1079G>A (n.*1079G>A)
c.92G>A
c.1965G>A (p.Lys655=)
c.2040G>A (p.Lys680=)
c.514G>A
c.*139G>A (n.*139G>A)
c.2076G>A (p.Lys692=)
c.2094G>A (p.Lys698=)
c.1983G>A (p.Lys661=)
c.1929G>A (p.Lys643=)
6g.30897403G>CCA363138228DDR1c.2022G>C (p.Lys674Asn)
c.1911G>C (p.Lys637Asn)
c.1218G>C (p.Lys406Asn)
c.1584G>C (p.Lys528Asn)
c.*1079G>C (n.*1079G>C)
c.92G>C
c.1965G>C (p.Lys655Asn)
c.2040G>C (p.Lys680Asn)
c.514G>C
c.*139G>C (n.*139G>C)
c.2076G>C (p.Lys692Asn)
c.2094G>C (p.Lys698Asn)
c.1983G>C (p.Lys661Asn)
c.1929G>C (p.Lys643Asn)
6g.30897403G>TCA363138232DDR1c.2022G>T (p.Lys674Asn)
c.1911G>T (p.Lys637Asn)
c.1218G>T (p.Lys406Asn)
c.1584G>T (p.Lys528Asn)
c.*1079G>T (n.*1079G>T)
c.92G>T
c.1965G>T (p.Lys655Asn)
c.2040G>T (p.Lys680Asn)
c.514G>T
c.*139G>T (n.*139G>T)
c.2076G>T (p.Lys692Asn)
c.2094G>T (p.Lys698Asn)
c.1983G>T (p.Lys661Asn)
c.1929G>T (p.Lys643Asn)
6g.30897404A>CCA363138236DDR1c.2023A>C (p.Ile675Leu)
c.1912A>C (p.Ile638Leu)
c.1219A>C (p.Ile407Leu)
c.1585A>C (p.Ile529Leu)
c.*1080A>C (n.*1080A>C)
c.93A>C
c.1966A>C (p.Ile656Leu)
c.2041A>C (p.Ile681Leu)
c.*140A>C (n.*140A>C)
c.2077A>C (p.Ile693Leu)
c.2095A>C (p.Ile699Leu)
c.1984A>C (p.Ile662Leu)
c.1930A>C (p.Ile644Leu)
6g.30897404A>GCA363138239DDR1c.2023A>G (p.Ile675Val)
c.1912A>G (p.Ile638Val)
c.1219A>G (p.Ile407Val)
c.1585A>G (p.Ile529Val)
c.*1080A>G (n.*1080A>G)
c.93A>G
c.1966A>G (p.Ile656Val)
c.2041A>G (p.Ile681Val)
c.*140A>G (n.*140A>G)
c.2077A>G (p.Ile693Val)
c.2095A>G (p.Ile699Val)
c.1984A>G (p.Ile662Val)
c.1930A>G (p.Ile644Val)
gnomAD v4
6g.30897404A>TCA363138242DDR1c.2023A>T (p.Ile675Phe)
c.1912A>T (p.Ile638Phe)
c.1219A>T (p.Ile407Phe)
c.1585A>T (p.Ile529Phe)
c.*1080A>T (n.*1080A>T)
c.93A>T
c.1966A>T (p.Ile656Phe)
c.2041A>T (p.Ile681Phe)
c.*140A>T (n.*140A>T)
c.2077A>T (p.Ile693Phe)
c.2095A>T (p.Ile699Phe)
c.1984A>T (p.Ile662Phe)
c.1930A>T (p.Ile644Phe)
6g.30897405T>ACA363138247DDR1c.2024T>A (p.Ile675Asn)
c.1913T>A (p.Ile638Asn)
c.1220T>A (p.Ile407Asn)
c.1586T>A (p.Ile529Asn)
c.*1081T>A (n.*1081T>A)
c.94T>A
c.1967T>A (p.Ile656Asn)
c.2042T>A (p.Ile681Asn)
c.*141T>A (n.*141T>A)
c.2078T>A (p.Ile693Asn)
c.2096T>A (p.Ile699Asn)
c.1985T>A (p.Ile662Asn)
c.1931T>A (p.Ile644Asn)
6g.30897405T>CCA363138249DDR1c.2024T>C (p.Ile675Thr)
c.1913T>C (p.Ile638Thr)
c.1220T>C (p.Ile407Thr)
c.1586T>C (p.Ile529Thr)
c.*1081T>C (n.*1081T>C)
c.94T>C
c.1967T>C (p.Ile656Thr)
c.2042T>C (p.Ile681Thr)
c.*141T>C (n.*141T>C)
c.2078T>C (p.Ile693Thr)
c.2096T>C (p.Ile699Thr)
c.1985T>C (p.Ile662Thr)
c.1931T>C (p.Ile644Thr)
6g.30897405T>GCA363138253DDR1c.2024T>G (p.Ile675Ser)
c.1913T>G (p.Ile638Ser)
c.1220T>G (p.Ile407Ser)
c.1586T>G (p.Ile529Ser)
c.*1081T>G (n.*1081T>G)
c.94T>G
c.1967T>G (p.Ile656Ser)
c.2042T>G (p.Ile681Ser)
c.*141T>G (n.*141T>G)
c.2078T>G (p.Ile693Ser)
c.2096T>G (p.Ile699Ser)
c.1985T>G (p.Ile662Ser)
c.1931T>G (p.Ile644Ser)
6g.30897406C>ACA449778530DDR1c.2025C>A (p.Ile675=)
c.1914C>A (p.Ile638=)
c.1221C>A (p.Ile407=)
c.1587C>A (p.Ile529=)
c.*1082C>A (n.*1082C>A)
c.95C>A
c.1968C>A (p.Ile656=)
c.2043C>A (p.Ile681=)
c.*142C>A (n.*142C>A)
c.2079C>A (p.Ile693=)
c.2097C>A (p.Ile699=)
c.1986C>A (p.Ile662=)
c.1932C>A (p.Ile644=)
gnomAD v4
6g.30897406C>GCA363138258DDR1c.2025C>G (p.Ile675Met)
c.1914C>G (p.Ile638Met)
c.1221C>G (p.Ile407Met)
c.1587C>G (p.Ile529Met)
c.*1082C>G (n.*1082C>G)
c.95C>G
c.1968C>G (p.Ile656Met)
c.2043C>G (p.Ile681Met)
c.*142C>G (n.*142C>G)
c.2079C>G (p.Ile693Met)
c.2097C>G (p.Ile699Met)
c.1986C>G (p.Ile662Met)
c.1932C>G (p.Ile644Met)
6g.30897406C>TCA449778534DDR1c.2025C>T (p.Ile675=)
c.1914C>T (p.Ile638=)
c.1221C>T (p.Ile407=)
c.1587C>T (p.Ile529=)
c.*1082C>T (n.*1082C>T)
c.95C>T
c.1968C>T (p.Ile656=)
c.2043C>T (p.Ile681=)
c.*142C>T (n.*142C>T)
c.2079C>T (p.Ile693=)
c.2097C>T (p.Ile699=)
c.1986C>T (p.Ile662=)
c.1932C>T (p.Ile644=)
COSMIC COSMIC COSMIC COSMIC
6g.30897407A>CCA363138262DDR1c.2026A>C (p.Met676Leu)
c.1915A>C (p.Met639Leu)
c.1222A>C (p.Met408Leu)
c.1588A>C (p.Met530Leu)
c.*1083A>C (n.*1083A>C)
c.96A>C
c.1969A>C (p.Met657Leu)
c.2044A>C (p.Met682Leu)
c.*143A>C (n.*143A>C)
c.2080A>C (p.Met694Leu)
c.2098A>C (p.Met700Leu)
c.1987A>C (p.Met663Leu)
c.1933A>C (p.Met645Leu)
6g.30897407A>GCA363138271DDR1c.2026A>G (p.Met676Val)
c.1915A>G (p.Met639Val)
c.1222A>G (p.Met408Val)
c.1588A>G (p.Met530Val)
c.*1083A>G (n.*1083A>G)
c.96A>G
c.1969A>G (p.Met657Val)
c.2044A>G (p.Met682Val)
c.*143A>G (n.*143A>G)
c.2080A>G (p.Met694Val)
c.2098A>G (p.Met700Val)
c.1987A>G (p.Met663Val)
c.1933A>G (p.Met645Val)
6g.30897407A>TCA363138268DDR1c.2026A>T (p.Met676Leu)
c.1915A>T (p.Met639Leu)
c.1222A>T (p.Met408Leu)
c.1588A>T (p.Met530Leu)
c.*1083A>T (n.*1083A>T)
c.96A>T
c.1969A>T (p.Met657Leu)
c.2044A>T (p.Met682Leu)
c.*143A>T (n.*143A>T)
c.2080A>T (p.Met694Leu)
c.2098A>T (p.Met700Leu)
c.1987A>T (p.Met663Leu)
c.1933A>T (p.Met645Leu)
6g.30897408T>ACA363138276DDR1c.2027T>A (p.Met676Lys)
c.1916T>A (p.Met639Lys)
c.1223T>A (p.Met408Lys)
c.1589T>A (p.Met530Lys)
c.*1084T>A (n.*1084T>A)
c.97T>A
c.1970T>A (p.Met657Lys)
c.2045T>A (p.Met682Lys)
c.*144T>A (n.*144T>A)
c.2081T>A (p.Met694Lys)
c.2099T>A (p.Met700Lys)
c.1988T>A (p.Met663Lys)
c.1934T>A (p.Met645Lys)
6g.30897408T>CCA3704774DDR1c.2027T>C (p.Met676Thr)
c.1916T>C (p.Met639Thr)
c.1223T>C (p.Met408Thr)
c.1589T>C (p.Met530Thr)
c.*1084T>C (n.*1084T>C)
c.97T>C
c.1970T>C (p.Met657Thr)
c.2045T>C (p.Met682Thr)
c.*144T>C (n.*144T>C)
c.2081T>C (p.Met694Thr)
c.2099T>C (p.Met700Thr)
c.1988T>C (p.Met663Thr)
c.1934T>C (p.Met645Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.30897408T>GCA363138281DDR1c.2027T>G (p.Met676Arg)
c.1916T>G (p.Met639Arg)
c.1223T>G (p.Met408Arg)
c.1589T>G (p.Met530Arg)
c.*1084T>G (n.*1084T>G)
c.97T>G
c.1970T>G (p.Met657Arg)
c.2045T>G (p.Met682Arg)
c.*144T>G (n.*144T>G)
c.2081T>G (p.Met694Arg)
c.2099T>G (p.Met700Arg)
c.1988T>G (p.Met663Arg)
c.1934T>G (p.Met645Arg)
6g.30897408T=CA1618917799DDR1c.2027T= (p.Met676=)
c.1916T= (p.Met639=)
c.1223T= (p.Met408=)
c.1589T= (p.Met530=)
c.*1084T= (n.*1084T=)
c.97T=
c.1970T= (p.Met657=)
c.2045T= (p.Met682=)
c.*144T= (n.*144T=)
c.2081T= (p.Met694=)
c.2099T= (p.Met700=)
c.1988T= (p.Met663=)
c.1934T= (p.Met645=)
6g.30897409G>ACA363138287DDR1c.2028G>A (p.Met676Ile)
c.1917G>A (p.Met639Ile)
c.1224G>A (p.Met408Ile)
c.1590G>A (p.Met530Ile)
c.*1085G>A (n.*1085G>A)
c.98G>A
c.1971G>A (p.Met657Ile)
c.2046G>A (p.Met682Ile)
c.*145G>A (n.*145G>A)
c.2082G>A (p.Met694Ile)
c.2100G>A (p.Met700Ile)
c.1989G>A (p.Met663Ile)
c.1935G>A (p.Met645Ile)
6g.30897409G>CCA363138291DDR1c.2028G>C (p.Met676Ile)
c.1917G>C (p.Met639Ile)
c.1224G>C (p.Met408Ile)
c.1590G>C (p.Met530Ile)
c.*1085G>C (n.*1085G>C)
c.98G>C
c.1971G>C (p.Met657Ile)
c.2046G>C (p.Met682Ile)
c.*145G>C (n.*145G>C)
c.2082G>C (p.Met694Ile)
c.2100G>C (p.Met700Ile)
c.1989G>C (p.Met663Ile)
c.1935G>C (p.Met645Ile)
6g.30897409G>TCA363138292DDR1c.2028G>T (p.Met676Ile)
c.1917G>T (p.Met639Ile)
c.1224G>T (p.Met408Ile)
c.1590G>T (p.Met530Ile)
c.*1085G>T (n.*1085G>T)
c.98G>T
c.1971G>T (p.Met657Ile)
c.2046G>T (p.Met682Ile)
c.*145G>T (n.*145G>T)
c.2082G>T (p.Met694Ile)
c.2100G>T (p.Met700Ile)
c.1989G>T (p.Met663Ile)
c.1935G>T (p.Met645Ile)
6g.30897410T>ACA363138296DDR1c.2029T>A (p.Ser677Thr)
c.1918T>A (p.Ser640Thr)
c.1225T>A (p.Ser409Thr)
c.1591T>A (p.Ser531Thr)
c.*1086T>A (n.*1086T>A)
c.99T>A
c.1972T>A (p.Ser658Thr)
c.2047T>A (p.Ser683Thr)
c.*146T>A (n.*146T>A)
c.2083T>A (p.Ser695Thr)
c.2101T>A (p.Ser701Thr)
c.1990T>A (p.Ser664Thr)
c.1936T>A (p.Ser646Thr)
6g.30897410T>CCA363138298DDR1c.2029T>C (p.Ser677Pro)
c.1918T>C (p.Ser640Pro)
c.1225T>C (p.Ser409Pro)
c.1591T>C (p.Ser531Pro)
c.*1086T>C (n.*1086T>C)
c.99T>C
c.1972T>C (p.Ser658Pro)
c.2047T>C (p.Ser683Pro)
c.*146T>C (n.*146T>C)
c.2083T>C (p.Ser695Pro)
c.2101T>C (p.Ser701Pro)
c.1990T>C (p.Ser664Pro)
c.1936T>C (p.Ser646Pro)
6g.30897410T>GCA363138302DDR1c.2029T>G (p.Ser677Ala)
c.1918T>G (p.Ser640Ala)
c.1225T>G (p.Ser409Ala)
c.1591T>G (p.Ser531Ala)
c.*1086T>G (n.*1086T>G)
c.99T>G
c.1972T>G (p.Ser658Ala)
c.2047T>G (p.Ser683Ala)
c.*146T>G (n.*146T>G)
c.2083T>G (p.Ser695Ala)
c.2101T>G (p.Ser701Ala)
c.1990T>G (p.Ser664Ala)
c.1936T>G (p.Ser646Ala)
6g.30897411C>ACA363138308DDR1c.2030C>A (p.Ser677Ter)
c.1919C>A (p.Ser640Ter)
c.1226C>A (p.Ser409Ter)
c.1592C>A (p.Ser531Ter)
c.*1087C>A (n.*1087C>A)
c.100C>A
c.1973C>A (p.Ser658Ter)
c.2048C>A (p.Ser683Ter)
c.*147C>A (n.*147C>A)
c.2084C>A (p.Ser695Ter)
c.2102C>A (p.Ser701Ter)
c.1991C>A (p.Ser664Ter)
c.1937C>A (p.Ser646Ter)
6g.30897411C=CA1618917800DDR1c.2030C= (p.Ser677=)
c.1919C= (p.Ser640=)
c.1226C= (p.Ser409=)
c.1592C= (p.Ser531=)
c.*1087C= (n.*1087C=)
c.100C=
c.1973C= (p.Ser658=)
c.2048C= (p.Ser683=)
c.*147C= (n.*147C=)
c.2084C= (p.Ser695=)
c.2102C= (p.Ser701=)
c.1991C= (p.Ser664=)
c.1937C= (p.Ser646=)
6g.30897411C>GCA363138311DDR1c.2030C>G (p.Ser677Trp)
c.1919C>G (p.Ser640Trp)
c.1226C>G (p.Ser409Trp)
c.1592C>G (p.Ser531Trp)
c.*1087C>G (n.*1087C>G)
c.100C>G
c.1973C>G (p.Ser658Trp)
c.2048C>G (p.Ser683Trp)
c.*147C>G (n.*147C>G)
c.2084C>G (p.Ser695Trp)
c.2102C>G (p.Ser701Trp)
c.1991C>G (p.Ser664Trp)
c.1937C>G (p.Ser646Trp)
6g.30897411C>TCA3704775DDR1c.2030C>T (p.Ser677Leu)
c.1919C>T (p.Ser640Leu)
c.1226C>T (p.Ser409Leu)
c.1592C>T (p.Ser531Leu)
c.*1087C>T (n.*1087C>T)
c.100C>T
c.1973C>T (p.Ser658Leu)
c.2048C>T (p.Ser683Leu)
c.*147C>T (n.*147C>T)
c.2084C>T (p.Ser695Leu)
c.2102C>T (p.Ser701Leu)
c.1991C>T (p.Ser664Leu)
c.1937C>T (p.Ser646Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897412G>ACA3704776DDR1c.2031G>A (p.Ser677=)
c.1920G>A (p.Ser640=)
c.1227G>A (p.Ser409=)
c.1593G>A (p.Ser531=)
c.*1088G>A (n.*1088G>A)
c.101G>A
c.1974G>A (p.Ser658=)
c.2049G>A (p.Ser683=)
c.*148G>A (n.*148G>A)
c.2085G>A (p.Ser695=)
c.2103G>A (p.Ser701=)
c.1992G>A (p.Ser664=)
c.1938G>A (p.Ser646=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897412G>CCA3704777DDR1c.2031G>C (p.Ser677=)
c.1920G>C (p.Ser640=)
c.1227G>C (p.Ser409=)
c.1593G>C (p.Ser531=)
c.*1088G>C (n.*1088G>C)
c.101G>C
c.1974G>C (p.Ser658=)
c.2049G>C (p.Ser683=)
c.*148G>C (n.*148G>C)
c.2085G>C (p.Ser695=)
c.2103G>C (p.Ser701=)
c.1992G>C (p.Ser664=)
c.1938G>C (p.Ser646=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897412G=CA1618917801DDR1c.2031G= (p.Ser677=)
c.1920G= (p.Ser640=)
c.1227G= (p.Ser409=)
c.1593G= (p.Ser531=)
c.*1088G= (n.*1088G=)
c.101G=
c.1974G= (p.Ser658=)
c.2049G= (p.Ser683=)
c.*148G= (n.*148G=)
c.2085G= (p.Ser695=)
c.2103G= (p.Ser701=)
c.1992G= (p.Ser664=)
c.1938G= (p.Ser646=)
6g.30897412G>TCA449778546DDR1c.2031G>T (p.Ser677=)
c.1920G>T (p.Ser640=)
c.1227G>T (p.Ser409=)
c.1593G>T (p.Ser531=)
c.*1088G>T (n.*1088G>T)
c.101G>T
c.1974G>T (p.Ser658=)
c.2049G>T (p.Ser683=)
c.*148G>T (n.*148G>T)
c.2085G>T (p.Ser695=)
c.2103G>T (p.Ser701=)
c.1992G>T (p.Ser664=)
c.1938G>T (p.Ser646=)
gnomAD v4
6g.30897413A>CCA449778547DDR1c.2032A>C (p.Arg678=)
c.1921A>C (p.Arg641=)
c.1228A>C (p.Arg410=)
c.1594A>C (p.Arg532=)
c.*1089A>C (n.*1089A>C)
c.102A>C
c.1975A>C (p.Arg659=)
c.2050A>C (p.Arg684=)
c.*149A>C (n.*149A>C)
c.2086A>C (p.Arg696=)
c.2104A>C (p.Arg702=)
c.1993A>C (p.Arg665=)
c.1939A>C (p.Arg647=)
6g.30897413A>GCA363138320DDR1c.2032A>G (p.Arg678Gly)
c.1921A>G (p.Arg641Gly)
c.1228A>G (p.Arg410Gly)
c.1594A>G (p.Arg532Gly)
c.*1089A>G (n.*1089A>G)
c.102A>G
c.1975A>G (p.Arg659Gly)
c.2050A>G (p.Arg684Gly)
c.*149A>G (n.*149A>G)
c.2086A>G (p.Arg696Gly)
c.2104A>G (p.Arg702Gly)
c.1993A>G (p.Arg665Gly)
c.1939A>G (p.Arg647Gly)
6g.30897413A>TCA363138323DDR1c.2032A>T (p.Arg678Trp)
c.1921A>T (p.Arg641Trp)
c.1228A>T (p.Arg410Trp)
c.1594A>T (p.Arg532Trp)
c.*1089A>T (n.*1089A>T)
c.102A>T
c.1975A>T (p.Arg659Trp)
c.2050A>T (p.Arg684Trp)
c.*149A>T (n.*149A>T)
c.2086A>T (p.Arg696Trp)
c.2104A>T (p.Arg702Trp)
c.1993A>T (p.Arg665Trp)
c.1939A>T (p.Arg647Trp)
6g.30897414G>ACA363138327DDR1c.2033G>A (p.Arg678Lys)
c.1922G>A (p.Arg641Lys)
c.1229G>A (p.Arg410Lys)
c.1595G>A (p.Arg532Lys)
c.*1090G>A (n.*1090G>A)
c.103G>A
c.1976G>A (p.Arg659Lys)
c.2051G>A (p.Arg684Lys)
c.*150G>A (n.*150G>A)
c.2087G>A (p.Arg696Lys)
c.2105G>A (p.Arg702Lys)
c.1994G>A (p.Arg665Lys)
c.1940G>A (p.Arg647Lys)
dbSNP
6g.30897414G>CCA363138330DDR1c.2033G>C (p.Arg678Thr)
c.1922G>C (p.Arg641Thr)
c.1229G>C (p.Arg410Thr)
c.1595G>C (p.Arg532Thr)
c.*1090G>C (n.*1090G>C)
c.103G>C
c.1976G>C (p.Arg659Thr)
c.2051G>C (p.Arg684Thr)
c.*150G>C (n.*150G>C)
c.2087G>C (p.Arg696Thr)
c.2105G>C (p.Arg702Thr)
c.1994G>C (p.Arg665Thr)
c.1940G>C (p.Arg647Thr)
6g.30897414G=CA1618917802DDR1c.2033G= (p.Arg678=)
c.1922G= (p.Arg641=)
c.1229G= (p.Arg410=)
c.1595G= (p.Arg532=)
c.*1090G= (n.*1090G=)
c.103G=
c.1976G= (p.Arg659=)
c.2051G= (p.Arg684=)
c.*150G= (n.*150G=)
c.2087G= (p.Arg696=)
c.2105G= (p.Arg702=)
c.1994G= (p.Arg665=)
c.1940G= (p.Arg647=)
6g.30897414G>TCA363138333DDR1c.2033G>T (p.Arg678Met)
c.1922G>T (p.Arg641Met)
c.1229G>T (p.Arg410Met)
c.1595G>T (p.Arg532Met)
c.*1090G>T (n.*1090G>T)
c.103G>T
c.1976G>T (p.Arg659Met)
c.2051G>T (p.Arg684Met)
c.*150G>T (n.*150G>T)
c.2087G>T (p.Arg696Met)
c.2105G>T (p.Arg702Met)
c.1994G>T (p.Arg665Met)
c.1940G>T (p.Arg647Met)
6g.30897415G>ACA449778551DDR1c.2034G>A (p.Arg678=)
c.1923G>A (p.Arg641=)
c.1230G>A (p.Arg410=)
c.1596G>A (p.Arg532=)
c.*1091G>A (n.*1091G>A)
c.104G>A
c.1977G>A (p.Arg659=)
c.2052G>A (p.Arg684=)
c.*151G>A (n.*151G>A)
c.2088G>A (p.Arg696=)
c.2106G>A (p.Arg702=)
c.1995G>A (p.Arg665=)
c.1941G>A (p.Arg647=)
6g.30897415G>CCA363138334DDR1c.2034G>C (p.Arg678Ser)
c.1923G>C (p.Arg641Ser)
c.1230G>C (p.Arg410Ser)
c.1596G>C (p.Arg532Ser)
c.*1091G>C (n.*1091G>C)
c.104G>C
c.1977G>C (p.Arg659Ser)
c.2052G>C (p.Arg684Ser)
c.*151G>C (n.*151G>C)
c.2088G>C (p.Arg696Ser)
c.2106G>C (p.Arg702Ser)
c.1995G>C (p.Arg665Ser)
c.1941G>C (p.Arg647Ser)
6g.30897415G>TCA363138338DDR1c.2034G>T (p.Arg678Ser)
c.1923G>T (p.Arg641Ser)
c.1230G>T (p.Arg410Ser)
c.1596G>T (p.Arg532Ser)
c.*1091G>T (n.*1091G>T)
c.104G>T
c.1977G>T (p.Arg659Ser)
c.2052G>T (p.Arg684Ser)
c.*151G>T (n.*151G>T)
c.2088G>T (p.Arg696Ser)
c.2106G>T (p.Arg702Ser)
c.1995G>T (p.Arg665Ser)
c.1941G>T (p.Arg647Ser)
6g.30897416C>ACA363138344DDR1c.2035C>A (p.Leu679Ile)
c.1924C>A (p.Leu642Ile)
c.1231C>A (p.Leu411Ile)
c.1597C>A (p.Leu533Ile)
c.*1092C>A (n.*1092C>A)
c.105C>A
c.1978C>A (p.Leu660Ile)
c.2053C>A (p.Leu685Ile)
c.*152C>A (n.*152C>A)
c.2089C>A (p.Leu697Ile)
c.2107C>A (p.Leu703Ile)
c.1996C>A (p.Leu666Ile)
c.1942C>A (p.Leu648Ile)
dbSNP
6g.30897416C=CA1618917803DDR1c.2035C= (p.Leu679=)
c.1924C= (p.Leu642=)
c.1231C= (p.Leu411=)
c.1597C= (p.Leu533=)
c.*1092C= (n.*1092C=)
c.105C=
c.1978C= (p.Leu660=)
c.2053C= (p.Leu685=)
c.*152C= (n.*152C=)
c.2089C= (p.Leu697=)
c.2107C= (p.Leu703=)
c.1996C= (p.Leu666=)
c.1942C= (p.Leu648=)
6g.30897416C>GCA363138347DDR1c.2035C>G (p.Leu679Val)
c.1924C>G (p.Leu642Val)
c.1231C>G (p.Leu411Val)
c.1597C>G (p.Leu533Val)
c.*1092C>G (n.*1092C>G)
c.105C>G
c.1978C>G (p.Leu660Val)
c.2053C>G (p.Leu685Val)
c.*152C>G (n.*152C>G)
c.2089C>G (p.Leu697Val)
c.2107C>G (p.Leu703Val)
c.1996C>G (p.Leu666Val)
c.1942C>G (p.Leu648Val)
6g.30897416C>TCA363138350DDR1c.2035C>T (p.Leu679Phe)
c.1924C>T (p.Leu642Phe)
c.1231C>T (p.Leu411Phe)
c.1597C>T (p.Leu533Phe)
c.*1092C>T (n.*1092C>T)
c.105C>T
c.1978C>T (p.Leu660Phe)
c.2053C>T (p.Leu685Phe)
c.*152C>T (n.*152C>T)
c.2089C>T (p.Leu697Phe)
c.2107C>T (p.Leu703Phe)
c.1996C>T (p.Leu666Phe)
c.1942C>T (p.Leu648Phe)
dbSNP gnomAD v2 gnomAD v4
6g.30897417T>ACA363138359DDR1c.2036T>A (p.Leu679His)
c.1925T>A (p.Leu642His)
c.1232T>A (p.Leu411His)
c.1598T>A (p.Leu533His)
c.*1093T>A (n.*1093T>A)
c.106T>A
c.1979T>A (p.Leu660His)
c.2054T>A (p.Leu685His)
c.*153T>A (n.*153T>A)
c.2090T>A (p.Leu697His)
c.2108T>A (p.Leu703His)
c.1997T>A (p.Leu666His)
c.1943T>A (p.Leu648His)
6g.30897417T>CCA363138362DDR1c.2036T>C (p.Leu679Pro)
c.1925T>C (p.Leu642Pro)
c.1232T>C (p.Leu411Pro)
c.1598T>C (p.Leu533Pro)
c.*1093T>C (n.*1093T>C)
c.106T>C
c.1979T>C (p.Leu660Pro)
c.2054T>C (p.Leu685Pro)
c.*153T>C (n.*153T>C)
c.2090T>C (p.Leu697Pro)
c.2108T>C (p.Leu703Pro)
c.1997T>C (p.Leu666Pro)
c.1943T>C (p.Leu648Pro)
dbSNP gnomAD v3 gnomAD v4
6g.30897417T>GCA363138356DDR1c.2036T>G (p.Leu679Arg)
c.1925T>G (p.Leu642Arg)
c.1232T>G (p.Leu411Arg)
c.1598T>G (p.Leu533Arg)
c.*1093T>G (n.*1093T>G)
c.106T>G
c.1979T>G (p.Leu660Arg)
c.2054T>G (p.Leu685Arg)
c.*153T>G (n.*153T>G)
c.2090T>G (p.Leu697Arg)
c.2108T>G (p.Leu703Arg)
c.1997T>G (p.Leu666Arg)
c.1943T>G (p.Leu648Arg)
6g.30897417T=CA1618917804DDR1c.2036T= (p.Leu679=)
c.1925T= (p.Leu642=)
c.1232T= (p.Leu411=)
c.1598T= (p.Leu533=)
c.*1093T= (n.*1093T=)
c.106T=
c.1979T= (p.Leu660=)
c.2054T= (p.Leu685=)
c.*153T= (n.*153T=)
c.2090T= (p.Leu697=)
c.2108T= (p.Leu703=)
c.1997T= (p.Leu666=)
c.1943T= (p.Leu648=)
6g.30897418C>ACA449778559DDR1c.2037C>A (p.Leu679=)
c.1926C>A (p.Leu642=)
c.1233C>A (p.Leu411=)
c.1599C>A (p.Leu533=)
c.*1094C>A (n.*1094C>A)
c.107C>A
c.1980C>A (p.Leu660=)
c.2055C>A (p.Leu685=)
c.*154C>A (n.*154C>A)
c.2091C>A (p.Leu697=)
c.2109C>A (p.Leu703=)
c.1998C>A (p.Leu666=)
c.1944C>A (p.Leu648=)
6g.30897418C=CA1618917805DDR1c.2037C= (p.Leu679=)
c.1926C= (p.Leu642=)
c.1233C= (p.Leu411=)
c.1599C= (p.Leu533=)
c.*1094C= (n.*1094C=)
c.107C=
c.1980C= (p.Leu660=)
c.2055C= (p.Leu685=)
c.*154C= (n.*154C=)
c.2091C= (p.Leu697=)
c.2109C= (p.Leu703=)
c.1998C= (p.Leu666=)
c.1944C= (p.Leu648=)
6g.30897418C>GCA449778560DDR1c.2037C>G (p.Leu679=)
c.1926C>G (p.Leu642=)
c.1233C>G (p.Leu411=)
c.1599C>G (p.Leu533=)
c.*1094C>G (n.*1094C>G)
c.107C>G
c.1980C>G (p.Leu660=)
c.2055C>G (p.Leu685=)
c.*154C>G (n.*154C>G)
c.2091C>G (p.Leu697=)
c.2109C>G (p.Leu703=)
c.1998C>G (p.Leu666=)
c.1944C>G (p.Leu648=)
6g.30897418C>TCA449778561DDR1c.2037C>T (p.Leu679=)
c.1926C>T (p.Leu642=)
c.1233C>T (p.Leu411=)
c.1599C>T (p.Leu533=)
c.*1094C>T (n.*1094C>T)
c.107C>T
c.1980C>T (p.Leu660=)
c.2055C>T (p.Leu685=)
c.*154C>T (n.*154C>T)
c.2091C>T (p.Leu697=)
c.2109C>T (p.Leu703=)
c.1998C>T (p.Leu666=)
c.1944C>T (p.Leu648=)
dbSNP gnomAD v4
6g.30897419A>CCA363138367DDR1c.2038A>C (p.Lys680Gln)
c.1927A>C (p.Lys643Gln)
c.1234A>C (p.Lys412Gln)
c.1600A>C (p.Lys534Gln)
c.*1095A>C (n.*1095A>C)
c.108A>C
c.1981A>C (p.Lys661Gln)
c.2056A>C (p.Lys686Gln)
c.*155A>C (n.*155A>C)
c.2092A>C (p.Lys698Gln)
c.2110A>C (p.Lys704Gln)
c.1999A>C (p.Lys667Gln)
c.1945A>C (p.Lys649Gln)
6g.30897419A>GCA363138370DDR1c.2038A>G (p.Lys680Glu)
c.1927A>G (p.Lys643Glu)
c.1234A>G (p.Lys412Glu)
c.1600A>G (p.Lys534Glu)
c.*1095A>G (n.*1095A>G)
c.108A>G
c.1981A>G (p.Lys661Glu)
c.2056A>G (p.Lys686Glu)
c.*155A>G (n.*155A>G)
c.2092A>G (p.Lys698Glu)
c.2110A>G (p.Lys704Glu)
c.1999A>G (p.Lys667Glu)
c.1945A>G (p.Lys649Glu)
dbSNP gnomAD v3 gnomAD v4
6g.30897419A>TCA363138373DDR1c.2038A>T (p.Lys680Ter)
c.1927A>T (p.Lys643Ter)
c.1234A>T (p.Lys412Ter)
c.1600A>T (p.Lys534Ter)
c.*1095A>T (n.*1095A>T)
c.108A>T
c.1981A>T (p.Lys661Ter)
c.2056A>T (p.Lys686Ter)
c.*155A>T (n.*155A>T)
c.2092A>T (p.Lys698Ter)
c.2110A>T (p.Lys704Ter)
c.1999A>T (p.Lys667Ter)
c.1945A>T (p.Lys649Ter)
6g.30897420A>CCA363138378DDR1c.2039A>C (p.Lys680Thr)
c.1928A>C (p.Lys643Thr)
c.1235A>C (p.Lys412Thr)
c.1601A>C (p.Lys534Thr)
c.*1096A>C (n.*1096A>C)
c.109A>C
c.1982A>C (p.Lys661Thr)
c.2057A>C (p.Lys686Thr)
c.*156A>C (n.*156A>C)
c.2093A>C (p.Lys698Thr)
c.2111A>C (p.Lys704Thr)
c.2000A>C (p.Lys667Thr)
c.1946A>C (p.Lys649Thr)
6g.30897420A>GCA363138381DDR1c.2039A>G (p.Lys680Arg)
c.1928A>G (p.Lys643Arg)
c.1235A>G (p.Lys412Arg)
c.1601A>G (p.Lys534Arg)
c.*1096A>G (n.*1096A>G)
c.109A>G
c.1982A>G (p.Lys661Arg)
c.2057A>G (p.Lys686Arg)
c.*156A>G (n.*156A>G)
c.2093A>G (p.Lys698Arg)
c.2111A>G (p.Lys704Arg)
c.2000A>G (p.Lys667Arg)
c.1946A>G (p.Lys649Arg)
6g.30897420A>TCA363138385DDR1c.2039A>T (p.Lys680Met)
c.1928A>T (p.Lys643Met)
c.1235A>T (p.Lys412Met)
c.1601A>T (p.Lys534Met)
c.*1096A>T (n.*1096A>T)
c.109A>T
c.1982A>T (p.Lys661Met)
c.2057A>T (p.Lys686Met)
c.*156A>T (n.*156A>T)
c.2093A>T (p.Lys698Met)
c.2111A>T (p.Lys704Met)
c.2000A>T (p.Lys667Met)
c.1946A>T (p.Lys649Met)
6g.30897421G>ACA449778565DDR1c.2040G>A (p.Lys680=)
c.1929G>A (p.Lys643=)
c.1236G>A (p.Lys412=)
c.1602G>A (p.Lys534=)
c.*1097G>A (n.*1097G>A)
c.110G>A
c.1983G>A (p.Lys661=)
c.2058G>A (p.Lys686=)
c.*157G>A (n.*157G>A)
c.2094G>A (p.Lys698=)
c.2112G>A (p.Lys704=)
c.2001G>A (p.Lys667=)
c.1947G>A (p.Lys649=)
6g.30897421G>CCA363138389DDR1c.2040G>C (p.Lys680Asn)
c.1929G>C (p.Lys643Asn)
c.1236G>C (p.Lys412Asn)
c.1602G>C (p.Lys534Asn)
c.*1097G>C (n.*1097G>C)
c.110G>C
c.1983G>C (p.Lys661Asn)
c.2058G>C (p.Lys686Asn)
c.*157G>C (n.*157G>C)
c.2094G>C (p.Lys698Asn)
c.2112G>C (p.Lys704Asn)
c.2001G>C (p.Lys667Asn)
c.1947G>C (p.Lys649Asn)
6g.30897421G>TCA363138392DDR1c.2040G>T (p.Lys680Asn)
c.1929G>T (p.Lys643Asn)
c.1236G>T (p.Lys412Asn)
c.1602G>T (p.Lys534Asn)
c.*1097G>T (n.*1097G>T)
c.110G>T
c.1983G>T (p.Lys661Asn)
c.2058G>T (p.Lys686Asn)
c.*157G>T (n.*157G>T)
c.2094G>T (p.Lys698Asn)
c.2112G>T (p.Lys704Asn)
c.2001G>T (p.Lys667Asn)
c.1947G>T (p.Lys649Asn)
6g.30897422G>ACA363138394DDR1c.2041G>A (p.Asp681Asn)
c.1930G>A (p.Asp644Asn)
c.1237G>A (p.Asp413Asn)
c.1603G>A (p.Asp535Asn)
c.*1098G>A (n.*1098G>A)
c.111G>A
c.1984G>A (p.Asp662Asn)
c.2059G>A (p.Asp687Asn)
c.*158G>A (n.*158G>A)
c.2095G>A (p.Asp699Asn)
c.2113G>A (p.Asp705Asn)
c.2002G>A (p.Asp668Asn)
c.1948G>A (p.Asp650Asn)
6g.30897422G>CCA363138398DDR1c.2041G>C (p.Asp681His)
c.1930G>C (p.Asp644His)
c.1237G>C (p.Asp413His)
c.1603G>C (p.Asp535His)
c.*1098G>C (n.*1098G>C)
c.111G>C
c.1984G>C (p.Asp662His)
c.2059G>C (p.Asp687His)
c.*158G>C (n.*158G>C)
c.2095G>C (p.Asp699His)
c.2113G>C (p.Asp705His)
c.2002G>C (p.Asp668His)
c.1948G>C (p.Asp650His)
6g.30897422G=CA1618917806DDR1c.2041G= (p.Asp681=)
c.1930G= (p.Asp644=)
c.1237G= (p.Asp413=)
c.1603G= (p.Asp535=)
c.*1098G= (n.*1098G=)
c.111G=
c.1984G= (p.Asp662=)
c.2059G= (p.Asp687=)
c.*158G= (n.*158G=)
c.2095G= (p.Asp699=)
c.2113G= (p.Asp705=)
c.2002G= (p.Asp668=)
c.1948G= (p.Asp650=)
6g.30897422G>TCA363138401DDR1c.2041G>T (p.Asp681Tyr)
c.1930G>T (p.Asp644Tyr)
c.1237G>T (p.Asp413Tyr)
c.1603G>T (p.Asp535Tyr)
c.*1098G>T (n.*1098G>T)
c.111G>T
c.1984G>T (p.Asp662Tyr)
c.2059G>T (p.Asp687Tyr)
c.*158G>T (n.*158G>T)
c.2095G>T (p.Asp699Tyr)
c.2113G>T (p.Asp705Tyr)
c.2002G>T (p.Asp668Tyr)
c.1948G>T (p.Asp650Tyr)
dbSNP gnomAD v2 gnomAD v4
6g.30897423A>CCA363138406DDR1c.2042A>C (p.Asp681Ala)
c.1931A>C (p.Asp644Ala)
c.1238A>C (p.Asp413Ala)
c.1604A>C (p.Asp535Ala)
c.*1099A>C (n.*1099A>C)
c.112A>C
c.1985A>C (p.Asp662Ala)
c.2060A>C (p.Asp687Ala)
c.*159A>C (n.*159A>C)
c.2096A>C (p.Asp699Ala)
c.2114A>C (p.Asp705Ala)
c.2003A>C (p.Asp668Ala)
c.1949A>C (p.Asp650Ala)
6g.30897423A>GCA363138408DDR1c.2042A>G (p.Asp681Gly)
c.1931A>G (p.Asp644Gly)
c.1238A>G (p.Asp413Gly)
c.1604A>G (p.Asp535Gly)
c.*1099A>G (n.*1099A>G)
c.112A>G
c.1985A>G (p.Asp662Gly)
c.2060A>G (p.Asp687Gly)
c.*159A>G (n.*159A>G)
c.2096A>G (p.Asp699Gly)
c.2114A>G (p.Asp705Gly)
c.2003A>G (p.Asp668Gly)
c.1949A>G (p.Asp650Gly)
6g.30897423A>TCA363138412DDR1c.2042A>T (p.Asp681Val)
c.1931A>T (p.Asp644Val)
c.1238A>T (p.Asp413Val)
c.1604A>T (p.Asp535Val)
c.*1099A>T (n.*1099A>T)
c.112A>T
c.1985A>T (p.Asp662Val)
c.2060A>T (p.Asp687Val)
c.*159A>T (n.*159A>T)
c.2096A>T (p.Asp699Val)
c.2114A>T (p.Asp705Val)
c.2003A>T (p.Asp668Val)
c.1949A>T (p.Asp650Val)
6g.30897424C>ACA363138416DDR1c.2043C>A (p.Asp681Glu)
c.1932C>A (p.Asp644Glu)
c.1239C>A (p.Asp413Glu)
c.1605C>A (p.Asp535Glu)
c.*1100C>A (n.*1100C>A)
c.113C>A
c.1986C>A (p.Asp662Glu)
c.2061C>A (p.Asp687Glu)
c.*160C>A (n.*160C>A)
c.2097C>A (p.Asp699Glu)
c.2115C>A (p.Asp705Glu)
c.2004C>A (p.Asp668Glu)
c.1950C>A (p.Asp650Glu)
6g.30897424C>GCA363138419DDR1c.2043C>G (p.Asp681Glu)
c.1932C>G (p.Asp644Glu)
c.1239C>G (p.Asp413Glu)
c.1605C>G (p.Asp535Glu)
c.*1100C>G (n.*1100C>G)
c.113C>G
c.1986C>G (p.Asp662Glu)
c.2061C>G (p.Asp687Glu)
c.*160C>G (n.*160C>G)
c.2097C>G (p.Asp699Glu)
c.2115C>G (p.Asp705Glu)
c.2004C>G (p.Asp668Glu)
c.1950C>G (p.Asp650Glu)
6g.30897424C>TCA449778574DDR1c.2043C>T (p.Asp681=)
c.1932C>T (p.Asp644=)
c.1239C>T (p.Asp413=)
c.1605C>T (p.Asp535=)
c.*1100C>T (n.*1100C>T)
c.113C>T
c.1986C>T (p.Asp662=)
c.2061C>T (p.Asp687=)
c.*160C>T (n.*160C>T)
c.2097C>T (p.Asp699=)
c.2115C>T (p.Asp705=)
c.2004C>T (p.Asp668=)
c.1950C>T (p.Asp650=)
6g.30897425C>ACA363138425DDR1c.2044C>A (p.Pro682Thr)
c.1933C>A (p.Pro645Thr)
c.1240C>A (p.Pro414Thr)
c.1606C>A (p.Pro536Thr)
c.*1101C>A (n.*1101C>A)
c.114C>A
c.1987C>A (p.Pro663Thr)
c.2062C>A (p.Pro688Thr)
c.*161C>A (n.*161C>A)
c.2098C>A (p.Pro700Thr)
c.2116C>A (p.Pro706Thr)
c.2005C>A (p.Pro669Thr)
c.1951C>A (p.Pro651Thr)
6g.30897425C>GCA363138431DDR1c.2044C>G (p.Pro682Ala)
c.1933C>G (p.Pro645Ala)
c.1240C>G (p.Pro414Ala)
c.1606C>G (p.Pro536Ala)
c.*1101C>G (n.*1101C>G)
c.114C>G
c.1987C>G (p.Pro663Ala)
c.2062C>G (p.Pro688Ala)
c.*161C>G (n.*161C>G)
c.2098C>G (p.Pro700Ala)
c.2116C>G (p.Pro706Ala)
c.2005C>G (p.Pro669Ala)
c.1951C>G (p.Pro651Ala)
6g.30897425C>TCA363138427DDR1c.2044C>T (p.Pro682Ser)
c.1933C>T (p.Pro645Ser)
c.1240C>T (p.Pro414Ser)
c.1606C>T (p.Pro536Ser)
c.*1101C>T (n.*1101C>T)
c.114C>T
c.1987C>T (p.Pro663Ser)
c.2062C>T (p.Pro688Ser)
c.*161C>T (n.*161C>T)
c.2098C>T (p.Pro700Ser)
c.2116C>T (p.Pro706Ser)
c.2005C>T (p.Pro669Ser)
c.1951C>T (p.Pro651Ser)
6g.30897426C>ACA363138437DDR1c.2045C>A (p.Pro682Gln)
c.1934C>A (p.Pro645Gln)
c.1241C>A (p.Pro414Gln)
c.1607C>A (p.Pro536Gln)
c.*1102C>A (n.*1102C>A)
c.115C>A
c.1988C>A (p.Pro663Gln)
c.2063C>A (p.Pro688Gln)
c.*162C>A (n.*162C>A)
c.2099C>A (p.Pro700Gln)
c.2117C>A (p.Pro706Gln)
c.2006C>A (p.Pro669Gln)
c.1952C>A (p.Pro651Gln)
COSMIC COSMIC COSMIC COSMIC
6g.30897426C=CA1618917807DDR1c.2045C= (p.Pro682=)
c.1934C= (p.Pro645=)
c.1241C= (p.Pro414=)
c.1607C= (p.Pro536=)
c.*1102C= (n.*1102C=)
c.115C=
c.1988C= (p.Pro663=)
c.2063C= (p.Pro688=)
c.*162C= (n.*162C=)
c.2099C= (p.Pro700=)
c.2117C= (p.Pro706=)
c.2006C= (p.Pro669=)
c.1952C= (p.Pro651=)
6g.30897426C>GCA3704778DDR1c.2045C>G (p.Pro682Arg)
c.1934C>G (p.Pro645Arg)
c.1241C>G (p.Pro414Arg)
c.1607C>G (p.Pro536Arg)
c.*1102C>G (n.*1102C>G)
c.115C>G
c.1988C>G (p.Pro663Arg)
c.2063C>G (p.Pro688Arg)
c.*162C>G (n.*162C>G)
c.2099C>G (p.Pro700Arg)
c.2117C>G (p.Pro706Arg)
c.2006C>G (p.Pro669Arg)
c.1952C>G (p.Pro651Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897426C>TCA363138439DDR1c.2045C>T (p.Pro682Leu)
c.1934C>T (p.Pro645Leu)
c.1241C>T (p.Pro414Leu)
c.1607C>T (p.Pro536Leu)
c.*1102C>T (n.*1102C>T)
c.115C>T
c.1988C>T (p.Pro663Leu)
c.2063C>T (p.Pro688Leu)
c.*162C>T (n.*162C>T)
c.2099C>T (p.Pro700Leu)
c.2117C>T (p.Pro706Leu)
c.2006C>T (p.Pro669Leu)
c.1952C>T (p.Pro651Leu)
gnomAD v4
6g.30897427A=CA1618917808DDR1c.2046A= (p.Pro682=)
c.1935A= (p.Pro645=)
c.1242A= (p.Pro414=)
c.1608A= (p.Pro536=)
c.*1103A= (n.*1103A=)
c.116A=
c.1989A= (p.Pro663=)
c.2064A= (p.Pro688=)
c.*163A= (n.*163A=)
c.2100A= (p.Pro700=)
c.2118A= (p.Pro706=)
c.2007A= (p.Pro669=)
c.1953A= (p.Pro651=)
6g.30897427A>CCA3704779DDR1c.2046A>C (p.Pro682=)
c.1935A>C (p.Pro645=)
c.1242A>C (p.Pro414=)
c.1608A>C (p.Pro536=)
c.*1103A>C (n.*1103A>C)
c.116A>C
c.1989A>C (p.Pro663=)
c.2064A>C (p.Pro688=)
c.*163A>C (n.*163A>C)
c.2100A>C (p.Pro700=)
c.2118A>C (p.Pro706=)
c.2007A>C (p.Pro669=)
c.1953A>C (p.Pro651=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897427A>GCA449778578DDR1c.2046A>G (p.Pro682=)
c.1935A>G (p.Pro645=)
c.1242A>G (p.Pro414=)
c.1608A>G (p.Pro536=)
c.*1103A>G (n.*1103A>G)
c.116A>G
c.1989A>G (p.Pro663=)
c.2064A>G (p.Pro688=)
c.*163A>G (n.*163A>G)
c.2100A>G (p.Pro700=)
c.2118A>G (p.Pro706=)
c.2007A>G (p.Pro669=)
c.1953A>G (p.Pro651=)
6g.30897427A>TCA449778579DDR1c.2046A>T (p.Pro682=)
c.1935A>T (p.Pro645=)
c.1242A>T (p.Pro414=)
c.1608A>T (p.Pro536=)
c.*1103A>T (n.*1103A>T)
c.116A>T
c.1989A>T (p.Pro663=)
c.2064A>T (p.Pro688=)
c.*163A>T (n.*163A>T)
c.2100A>T (p.Pro700=)
c.2118A>T (p.Pro706=)
c.2007A>T (p.Pro669=)
c.1953A>T (p.Pro651=)
6g.30897428A>CCA363138451DDR1c.2047A>C (p.Asn683His)
c.1936A>C (p.Asn646His)
c.1243A>C (p.Asn415His)
c.1609A>C (p.Asn537His)
c.*1104A>C (n.*1104A>C)
c.117A>C
c.1990A>C (p.Asn664His)
c.2065A>C (p.Asn689His)
c.*164A>C (n.*164A>C)
c.2101A>C (p.Asn701His)
c.2119A>C (p.Asn707His)
c.2008A>C (p.Asn670His)
c.1954A>C (p.Asn652His)
6g.30897428A>GCA363138445DDR1c.2047A>G (p.Asn683Asp)
c.1936A>G (p.Asn646Asp)
c.1243A>G (p.Asn415Asp)
c.1609A>G (p.Asn537Asp)
c.*1104A>G (n.*1104A>G)
c.117A>G
c.1990A>G (p.Asn664Asp)
c.2065A>G (p.Asn689Asp)
c.*164A>G (n.*164A>G)
c.2101A>G (p.Asn701Asp)
c.2119A>G (p.Asn707Asp)
c.2008A>G (p.Asn670Asp)
c.1954A>G (p.Asn652Asp)
6g.30897428A>TCA363138449DDR1c.2047A>T (p.Asn683Tyr)
c.1936A>T (p.Asn646Tyr)
c.1243A>T (p.Asn415Tyr)
c.1609A>T (p.Asn537Tyr)
c.*1104A>T (n.*1104A>T)
c.117A>T
c.1990A>T (p.Asn664Tyr)
c.2065A>T (p.Asn689Tyr)
c.*164A>T (n.*164A>T)
c.2101A>T (p.Asn701Tyr)
c.2119A>T (p.Asn707Tyr)
c.2008A>T (p.Asn670Tyr)
c.1954A>T (p.Asn652Tyr)
6g.30897429A=CA1618917809DDR1c.2048A= (p.Asn683=)
c.1937A= (p.Asn646=)
c.1244A= (p.Asn415=)
c.1610A= (p.Asn537=)
c.*1105A= (n.*1105A=)
c.118A=
c.1991A= (p.Asn664=)
c.2066A= (p.Asn689=)
c.*165A= (n.*165A=)
c.2102A= (p.Asn701=)
c.2120A= (p.Asn707=)
c.2009A= (p.Asn670=)
c.1955A= (p.Asn652=)
6g.30897429A>CCA363138454DDR1c.2048A>C (p.Asn683Thr)
c.1937A>C (p.Asn646Thr)
c.1244A>C (p.Asn415Thr)
c.1610A>C (p.Asn537Thr)
c.*1105A>C (n.*1105A>C)
c.118A>C
c.1991A>C (p.Asn664Thr)
c.2066A>C (p.Asn689Thr)
c.*165A>C (n.*165A>C)
c.2102A>C (p.Asn701Thr)
c.2120A>C (p.Asn707Thr)
c.2009A>C (p.Asn670Thr)
c.1955A>C (p.Asn652Thr)
6g.30897429A>GCA363138457DDR1c.2048A>G (p.Asn683Ser)
c.1937A>G (p.Asn646Ser)
c.1244A>G (p.Asn415Ser)
c.1610A>G (p.Asn537Ser)
c.*1105A>G (n.*1105A>G)
c.118A>G
c.1991A>G (p.Asn664Ser)
c.2066A>G (p.Asn689Ser)
c.*165A>G (n.*165A>G)
c.2102A>G (p.Asn701Ser)
c.2120A>G (p.Asn707Ser)
c.2009A>G (p.Asn670Ser)
c.1955A>G (p.Asn652Ser)
dbSNP gnomAD v4
6g.30897429A>TCA363138459DDR1c.2048A>T (p.Asn683Ile)
c.1937A>T (p.Asn646Ile)
c.1244A>T (p.Asn415Ile)
c.1610A>T (p.Asn537Ile)
c.*1105A>T (n.*1105A>T)
c.118A>T
c.1991A>T (p.Asn664Ile)
c.2066A>T (p.Asn689Ile)
c.*165A>T (n.*165A>T)
c.2102A>T (p.Asn701Ile)
c.2120A>T (p.Asn707Ile)
c.2009A>T (p.Asn670Ile)
c.1955A>T (p.Asn652Ile)
6g.30897430C>ACA363138462DDR1c.2049C>A (p.Asn683Lys)
c.1938C>A (p.Asn646Lys)
c.1245C>A (p.Asn415Lys)
c.1611C>A (p.Asn537Lys)
c.*1106C>A (n.*1106C>A)
c.119C>A
c.1992C>A (p.Asn664Lys)
c.2067C>A (p.Asn689Lys)
c.*166C>A (n.*166C>A)
c.2103C>A (p.Asn701Lys)
c.2121C>A (p.Asn707Lys)
c.2010C>A (p.Asn670Lys)
c.1956C>A (p.Asn652Lys)
6g.30897430C>GCA363138465DDR1c.2049C>G (p.Asn683Lys)
c.1938C>G (p.Asn646Lys)
c.1245C>G (p.Asn415Lys)
c.1611C>G (p.Asn537Lys)
c.*1106C>G (n.*1106C>G)
c.119C>G
c.1992C>G (p.Asn664Lys)
c.2067C>G (p.Asn689Lys)
c.*166C>G (n.*166C>G)
c.2103C>G (p.Asn701Lys)
c.2121C>G (p.Asn707Lys)
c.2010C>G (p.Asn670Lys)
c.1956C>G (p.Asn652Lys)
6g.30897430C>TCA449778582DDR1c.2049C>T (p.Asn683=)
c.1938C>T (p.Asn646=)
c.1245C>T (p.Asn415=)
c.1611C>T (p.Asn537=)
c.*1106C>T (n.*1106C>T)
c.119C>T
c.1992C>T (p.Asn664=)
c.2067C>T (p.Asn689=)
c.*166C>T (n.*166C>T)
c.2103C>T (p.Asn701=)
c.2121C>T (p.Asn707=)
c.2010C>T (p.Asn670=)
c.1956C>T (p.Asn652=)
gnomAD v4
6g.30897431A>CCA363138469DDR1c.2050A>C (p.Ile684Leu)
c.1939A>C (p.Ile647Leu)
c.1246A>C (p.Ile416Leu)
c.1612A>C (p.Ile538Leu)
c.*1107A>C (n.*1107A>C)
c.120A>C
c.1993A>C (p.Ile665Leu)
c.2068A>C (p.Ile690Leu)
c.*167A>C (n.*167A>C)
c.2104A>C (p.Ile702Leu)
c.2122A>C (p.Ile708Leu)
c.2011A>C (p.Ile671Leu)
c.1957A>C (p.Ile653Leu)
6g.30897431A>GCA363138472DDR1c.2050A>G (p.Ile684Val)
c.1939A>G (p.Ile647Val)
c.1246A>G (p.Ile416Val)
c.1612A>G (p.Ile538Val)
c.*1107A>G (n.*1107A>G)
c.120A>G
c.1993A>G (p.Ile665Val)
c.2068A>G (p.Ile690Val)
c.*167A>G (n.*167A>G)
c.2104A>G (p.Ile702Val)
c.2122A>G (p.Ile708Val)
c.2011A>G (p.Ile671Val)
c.1957A>G (p.Ile653Val)
gnomAD v4
6g.30897431A>TCA363138476DDR1c.2050A>T (p.Ile684Phe)
c.1939A>T (p.Ile647Phe)
c.1246A>T (p.Ile416Phe)
c.1612A>T (p.Ile538Phe)
c.*1107A>T (n.*1107A>T)
c.120A>T
c.1993A>T (p.Ile665Phe)
c.2068A>T (p.Ile690Phe)
c.*167A>T (n.*167A>T)
c.2104A>T (p.Ile702Phe)
c.2122A>T (p.Ile708Phe)
c.2011A>T (p.Ile671Phe)
c.1957A>T (p.Ile653Phe)
6g.30897432T>ACA363138484DDR1c.2051T>A (p.Ile684Asn)
c.1940T>A (p.Ile647Asn)
c.1247T>A (p.Ile416Asn)
c.1613T>A (p.Ile538Asn)
c.*1108T>A (n.*1108T>A)
c.121T>A
c.1994T>A (p.Ile665Asn)
c.2069T>A (p.Ile690Asn)
c.*168T>A (n.*168T>A)
c.2105T>A (p.Ile702Asn)
c.2123T>A (p.Ile708Asn)
c.2012T>A (p.Ile671Asn)
c.1958T>A (p.Ile653Asn)
6g.30897432T>CCA363138480DDR1c.2051T>C (p.Ile684Thr)
c.1940T>C (p.Ile647Thr)
c.1247T>C (p.Ile416Thr)
c.1613T>C (p.Ile538Thr)
c.*1108T>C (n.*1108T>C)
c.121T>C
c.1994T>C (p.Ile665Thr)
c.2069T>C (p.Ile690Thr)
c.*168T>C (n.*168T>C)
c.2105T>C (p.Ile702Thr)
c.2123T>C (p.Ile708Thr)
c.2012T>C (p.Ile671Thr)
c.1958T>C (p.Ile653Thr)
COSMIC COSMIC COSMIC COSMIC
6g.30897432T>GCA363138479DDR1c.2051T>G (p.Ile684Ser)
c.1940T>G (p.Ile647Ser)
c.1247T>G (p.Ile416Ser)
c.1613T>G (p.Ile538Ser)
c.*1108T>G (n.*1108T>G)
c.121T>G
c.1994T>G (p.Ile665Ser)
c.2069T>G (p.Ile690Ser)
c.*168T>G (n.*168T>G)
c.2105T>G (p.Ile702Ser)
c.2123T>G (p.Ile708Ser)
c.2012T>G (p.Ile671Ser)
c.1958T>G (p.Ile653Ser)
6g.30897433C>ACA3704781DDR1c.2052C>A (p.Ile684=)
c.1941C>A (p.Ile647=)
c.1248C>A (p.Ile416=)
c.1614C>A (p.Ile538=)
c.*1109C>A (n.*1109C>A)
c.122C>A
c.1995C>A (p.Ile665=)
c.2070C>A (p.Ile690=)
c.*169C>A (n.*169C>A)
c.2106C>A (p.Ile702=)
c.2124C>A (p.Ile708=)
c.2013C>A (p.Ile671=)
c.1959C>A (p.Ile653=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.30897433C=CA1618917810DDR1c.2052C= (p.Ile684=)
c.1941C= (p.Ile647=)
c.1248C= (p.Ile416=)
c.1614C= (p.Ile538=)
c.*1109C= (n.*1109C=)
c.122C=
c.1995C= (p.Ile665=)
c.2070C= (p.Ile690=)
c.*169C= (n.*169C=)
c.2106C= (p.Ile702=)
c.2124C= (p.Ile708=)
c.2013C= (p.Ile671=)
c.1959C= (p.Ile653=)
6g.30897433C>GCA363138490DDR1c.2052C>G (p.Ile684Met)
c.1941C>G (p.Ile647Met)
c.1248C>G (p.Ile416Met)
c.1614C>G (p.Ile538Met)
c.*1109C>G (n.*1109C>G)
c.122C>G
c.1995C>G (p.Ile665Met)
c.2070C>G (p.Ile690Met)
c.*169C>G (n.*169C>G)
c.2106C>G (p.Ile702Met)
c.2124C>G (p.Ile708Met)
c.2013C>G (p.Ile671Met)
c.1959C>G (p.Ile653Met)
6g.30897433C>TCA3704780DDR1c.2052C>T (p.Ile684=)
c.1941C>T (p.Ile647=)
c.1248C>T (p.Ile416=)
c.1614C>T (p.Ile538=)
c.*1109C>T (n.*1109C>T)
c.122C>T
c.1995C>T (p.Ile665=)
c.2070C>T (p.Ile690=)
c.*169C>T (n.*169C>T)
c.2106C>T (p.Ile702=)
c.2124C>T (p.Ile708=)
c.2013C>T (p.Ile671=)
c.1959C>T (p.Ile653=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897434A=CA1618917811DDR1c.2053A= (p.Ile685=)
c.1942A= (p.Ile648=)
c.1249A= (p.Ile417=)
c.1615A= (p.Ile539=)
c.*1110A= (n.*1110A=)
c.123A=
c.1996A= (p.Ile666=)
c.2071A= (p.Ile691=)
c.*170A= (n.*170A=)
c.2107A= (p.Ile703=)
c.2125A= (p.Ile709=)
c.2014A= (p.Ile672=)
c.1960A= (p.Ile654=)
6g.30897434A>CCA363138496DDR1c.2053A>C (p.Ile685Leu)
c.1942A>C (p.Ile648Leu)
c.1249A>C (p.Ile417Leu)
c.1615A>C (p.Ile539Leu)
c.*1110A>C (n.*1110A>C)
c.123A>C
c.1996A>C (p.Ile666Leu)
c.2071A>C (p.Ile691Leu)
c.*170A>C (n.*170A>C)
c.2107A>C (p.Ile703Leu)
c.2125A>C (p.Ile709Leu)
c.2014A>C (p.Ile672Leu)
c.1960A>C (p.Ile654Leu)
6g.30897434A>GCA363138500DDR1c.2053A>G (p.Ile685Val)
c.1942A>G (p.Ile648Val)
c.1249A>G (p.Ile417Val)
c.1615A>G (p.Ile539Val)
c.*1110A>G (n.*1110A>G)
c.123A>G
c.1996A>G (p.Ile666Val)
c.2071A>G (p.Ile691Val)
c.*170A>G (n.*170A>G)
c.2107A>G (p.Ile703Val)
c.2125A>G (p.Ile709Val)
c.2014A>G (p.Ile672Val)
c.1960A>G (p.Ile654Val)
dbSNP gnomAD v4
6g.30897434A>TCA363138502DDR1c.2053A>T (p.Ile685Phe)
c.1942A>T (p.Ile648Phe)
c.1249A>T (p.Ile417Phe)
c.1615A>T (p.Ile539Phe)
c.*1110A>T (n.*1110A>T)
c.123A>T
c.1996A>T (p.Ile666Phe)
c.2071A>T (p.Ile691Phe)
c.*170A>T (n.*170A>T)
c.2107A>T (p.Ile703Phe)
c.2125A>T (p.Ile709Phe)
c.2014A>T (p.Ile672Phe)
c.1960A>T (p.Ile654Phe)
6g.30897434dupCA136787791DDR1c.2053dup (p.Ile685AsnfsTer18)
c.1942dup (p.Ile648AsnfsTer18)
c.1249dup (p.Ile417AsnfsTer18)
c.1615dup (p.Ile539AsnfsTer18)
c.*1110dup (n.*1110dup)
c.123dup
c.1996dup (p.Ile666AsnfsTer18)
c.2071dup (p.Ile691AsnfsTer18)
c.*170dup (n.*170dup)
c.2107dup (p.Ile703AsnfsTer18)
c.2125dup (p.Ile709AsnfsTer18)
c.2014dup (p.Ile672AsnfsTer18)
c.1960dup (p.Ile654AsnfsTer18)
dbSNP gnomAD v4
6g.30897435T>ACA363138505DDR1c.2054T>A (p.Ile685Asn)
c.1943T>A (p.Ile648Asn)
c.1250T>A (p.Ile417Asn)
c.1616T>A (p.Ile539Asn)
c.*1111T>A (n.*1111T>A)
c.124T>A
c.1997T>A (p.Ile666Asn)
c.2072T>A (p.Ile691Asn)
c.*171T>A (n.*171T>A)
c.2108T>A (p.Ile703Asn)
c.2126T>A (p.Ile709Asn)
c.2015T>A (p.Ile672Asn)
c.1961T>A (p.Ile654Asn)
6g.30897435T>CCA3704782DDR1c.2054T>C (p.Ile685Thr)
c.1943T>C (p.Ile648Thr)
c.1250T>C (p.Ile417Thr)
c.1616T>C (p.Ile539Thr)
c.*1111T>C (n.*1111T>C)
c.124T>C
c.1997T>C (p.Ile666Thr)
c.2072T>C (p.Ile691Thr)
c.*171T>C (n.*171T>C)
c.2108T>C (p.Ile703Thr)
c.2126T>C (p.Ile709Thr)
c.2015T>C (p.Ile672Thr)
c.1961T>C (p.Ile654Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897435T>GCA363138515DDR1c.2054T>G (p.Ile685Ser)
c.1943T>G (p.Ile648Ser)
c.1250T>G (p.Ile417Ser)
c.1616T>G (p.Ile539Ser)
c.*1111T>G (n.*1111T>G)
c.124T>G
c.1997T>G (p.Ile666Ser)
c.2072T>G (p.Ile691Ser)
c.*171T>G (n.*171T>G)
c.2108T>G (p.Ile703Ser)
c.2126T>G (p.Ile709Ser)
c.2015T>G (p.Ile672Ser)
c.1961T>G (p.Ile654Ser)
6g.30897435T=CA1618917812DDR1c.2054T= (p.Ile685=)
c.1943T= (p.Ile648=)
c.1250T= (p.Ile417=)
c.1616T= (p.Ile539=)
c.*1111T= (n.*1111T=)
c.124T=
c.1997T= (p.Ile666=)
c.2072T= (p.Ile691=)
c.*171T= (n.*171T=)
c.2108T= (p.Ile703=)
c.2126T= (p.Ile709=)
c.2015T= (p.Ile672=)
c.1961T= (p.Ile654=)
6g.30897436T>ACA449778590DDR1c.2055T>A (p.Ile685=)
c.1944T>A (p.Ile648=)
c.1251T>A (p.Ile417=)
c.1617T>A (p.Ile539=)
c.*1112T>A (n.*1112T>A)
c.125T>A
c.1998T>A (p.Ile666=)
c.2073T>A (p.Ile691=)
c.*172T>A (n.*172T>A)
c.2109T>A (p.Ile703=)
c.2127T>A (p.Ile709=)
c.2016T>A (p.Ile672=)
c.1962T>A (p.Ile654=)
6g.30897436T>CCA449778591DDR1c.2055T>C (p.Ile685=)
c.1944T>C (p.Ile648=)
c.1251T>C (p.Ile417=)
c.1617T>C (p.Ile539=)
c.*1112T>C (n.*1112T>C)
c.125T>C
c.1998T>C (p.Ile666=)
c.2073T>C (p.Ile691=)
c.*172T>C (n.*172T>C)
c.2109T>C (p.Ile703=)
c.2127T>C (p.Ile709=)
c.2016T>C (p.Ile672=)
c.1962T>C (p.Ile654=)
6g.30897436T>GCA363138518DDR1c.2055T>G (p.Ile685Met)
c.1944T>G (p.Ile648Met)
c.1251T>G (p.Ile417Met)
c.1617T>G (p.Ile539Met)
c.*1112T>G (n.*1112T>G)
c.125T>G
c.1998T>G (p.Ile666Met)
c.2073T>G (p.Ile691Met)
c.*172T>G (n.*172T>G)
c.2109T>G (p.Ile703Met)
c.2127T>G (p.Ile709Met)
c.2016T>G (p.Ile672Met)
c.1962T>G (p.Ile654Met)
6g.30897437C>ACA3704784DDR1c.2056C>A (p.Arg686=)
c.1945C>A (p.Arg649=)
c.1252C>A (p.Arg418=)
c.1618C>A (p.Arg540=)
c.*1113C>A (n.*1113C>A)
c.126C>A
c.1999C>A (p.Arg667=)
c.2074C>A (p.Arg692=)
c.*173C>A (n.*173C>A)
c.2110C>A (p.Arg704=)
c.2128C>A (p.Arg710=)
c.2017C>A (p.Arg673=)
c.1963C>A (p.Arg655=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897437C=CA1618917813DDR1c.2056C= (p.Arg686=)
c.1945C= (p.Arg649=)
c.1252C= (p.Arg418=)
c.1618C= (p.Arg540=)
c.*1113C= (n.*1113C=)
c.126C=
c.1999C= (p.Arg667=)
c.2074C= (p.Arg692=)
c.*173C= (n.*173C=)
c.2110C= (p.Arg704=)
c.2128C= (p.Arg710=)
c.2017C= (p.Arg673=)
c.1963C= (p.Arg655=)
6g.30897437C>GCA363138525DDR1c.2056C>G (p.Arg686Gly)
c.1945C>G (p.Arg649Gly)
c.1252C>G (p.Arg418Gly)
c.1618C>G (p.Arg540Gly)
c.*1113C>G (n.*1113C>G)
c.126C>G
c.1999C>G (p.Arg667Gly)
c.2074C>G (p.Arg692Gly)
c.*173C>G (n.*173C>G)
c.2110C>G (p.Arg704Gly)
c.2128C>G (p.Arg710Gly)
c.2017C>G (p.Arg673Gly)
c.1963C>G (p.Arg655Gly)
gnomAD v4
6g.30897437C>TCA3704783DDR1c.2056C>T (p.Arg686Trp)
c.1945C>T (p.Arg649Trp)
c.1252C>T (p.Arg418Trp)
c.1618C>T (p.Arg540Trp)
c.*1113C>T (n.*1113C>T)
c.126C>T
c.1999C>T (p.Arg667Trp)
c.2074C>T (p.Arg692Trp)
c.*173C>T (n.*173C>T)
c.2110C>T (p.Arg704Trp)
c.2128C>T (p.Arg710Trp)
c.2017C>T (p.Arg673Trp)
c.1963C>T (p.Arg655Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
6g.30897438G>ACA363138530DDR1c.2057G>A (p.Arg686Gln)
c.1946G>A (p.Arg649Gln)
c.1253G>A (p.Arg418Gln)
c.1619G>A (p.Arg540Gln)
c.*1114G>A (n.*1114G>A)
c.127G>A
c.2000G>A (p.Arg667Gln)
c.2075G>A (p.Arg692Gln)
c.*174G>A (n.*174G>A)
c.2111G>A (p.Arg704Gln)
c.2129G>A (p.Arg710Gln)
c.2018G>A (p.Arg673Gln)
c.1964G>A (p.Arg655Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.30897438G>CCA3704785DDR1c.2057G>C (p.Arg686Pro)
c.1946G>C (p.Arg649Pro)
c.1253G>C (p.Arg418Pro)
c.1619G>C (p.Arg540Pro)
c.*1114G>C (n.*1114G>C)
c.127G>C
c.2000G>C (p.Arg667Pro)
c.2075G>C (p.Arg692Pro)
c.*174G>C (n.*174G>C)
c.2111G>C (p.Arg704Pro)
c.2129G>C (p.Arg710Pro)
c.2018G>C (p.Arg673Pro)
c.1964G>C (p.Arg655Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897438G=CA1618917814DDR1c.2057G= (p.Arg686=)
c.1946G= (p.Arg649=)
c.1253G= (p.Arg418=)
c.1619G= (p.Arg540=)
c.*1114G= (n.*1114G=)
c.127G=
c.2000G= (p.Arg667=)
c.2075G= (p.Arg692=)
c.*174G= (n.*174G=)
c.2111G= (p.Arg704=)
c.2129G= (p.Arg710=)
c.2018G= (p.Arg673=)
c.1964G= (p.Arg655=)
6g.30897438G>TCA363138532DDR1c.2057G>T (p.Arg686Leu)
c.1946G>T (p.Arg649Leu)
c.1253G>T (p.Arg418Leu)
c.1619G>T (p.Arg540Leu)
c.*1114G>T (n.*1114G>T)
c.127G>T
c.2000G>T (p.Arg667Leu)
c.2075G>T (p.Arg692Leu)
c.*174G>T (n.*174G>T)
c.2111G>T (p.Arg704Leu)
c.2129G>T (p.Arg710Leu)
c.2018G>T (p.Arg673Leu)
c.1964G>T (p.Arg655Leu)
6g.30897439G>ACA449778594DDR1c.2058G>A (p.Arg686=)
c.1947G>A (p.Arg649=)
c.1254G>A (p.Arg418=)
c.1620G>A (p.Arg540=)
c.*1115G>A (n.*1115G>A)
c.128G>A
c.2001G>A (p.Arg667=)
c.2076G>A (p.Arg692=)
c.*175G>A (n.*175G>A)
c.2112G>A (p.Arg704=)
c.2130G>A (p.Arg710=)
c.2019G>A (p.Arg673=)
c.1965G>A (p.Arg655=)
dbSNP gnomAD v4
6g.30897439G>CCA449778595DDR1c.2058G>C (p.Arg686=)
c.1947G>C (p.Arg649=)
c.1254G>C (p.Arg418=)
c.1620G>C (p.Arg540=)
c.*1115G>C (n.*1115G>C)
c.128G>C
c.2001G>C (p.Arg667=)
c.2076G>C (p.Arg692=)
c.*175G>C (n.*175G>C)
c.2112G>C (p.Arg704=)
c.2130G>C (p.Arg710=)
c.2019G>C (p.Arg673=)
c.1965G>C (p.Arg655=)
6g.30897439G>TCA449778596DDR1c.2058G>T (p.Arg686=)
c.1947G>T (p.Arg649=)
c.1254G>T (p.Arg418=)
c.1620G>T (p.Arg540=)
c.*1115G>T (n.*1115G>T)
c.128G>T
c.2001G>T (p.Arg667=)
c.2076G>T (p.Arg692=)
c.*175G>T (n.*175G>T)
c.2112G>T (p.Arg704=)
c.2130G>T (p.Arg710=)
c.2019G>T (p.Arg673=)
c.1965G>T (p.Arg655=)
6g.30897440C>ACA363138535DDR1c.2059C>A (p.Leu687Met)
c.1948C>A (p.Leu650Met)
c.1255C>A (p.Leu419Met)
c.1621C>A (p.Leu541Met)
c.*1116C>A (n.*1116C>A)
c.129C>A
c.2002C>A (p.Leu668Met)
c.2077C>A (p.Leu693Met)
c.*176C>A (n.*176C>A)
c.2113C>A (p.Leu705Met)
c.2131C>A (p.Leu711Met)
c.2020C>A (p.Leu674Met)
c.1966C>A (p.Leu656Met)
6g.30897440C>GCA363138539DDR1c.2059C>G (p.Leu687Val)
c.1948C>G (p.Leu650Val)
c.1255C>G (p.Leu419Val)
c.1621C>G (p.Leu541Val)
c.*1116C>G (n.*1116C>G)
c.129C>G
c.2002C>G (p.Leu668Val)
c.2077C>G (p.Leu693Val)
c.*176C>G (n.*176C>G)
c.2113C>G (p.Leu705Val)
c.2131C>G (p.Leu711Val)
c.2020C>G (p.Leu674Val)
c.1966C>G (p.Leu656Val)
6g.30897440C>TCA449778600DDR1c.2059C>T (p.Leu687=)
c.1948C>T (p.Leu650=)
c.1255C>T (p.Leu419=)
c.1621C>T (p.Leu541=)
c.*1116C>T (n.*1116C>T)
c.129C>T
c.2002C>T (p.Leu668=)
c.2077C>T (p.Leu693=)
c.*176C>T (n.*176C>T)
c.2113C>T (p.Leu705=)
c.2131C>T (p.Leu711=)
c.2020C>T (p.Leu674=)
c.1966C>T (p.Leu656=)
dbSNP
6g.30897441T>ACA363138543DDR1c.2060T>A (p.Leu687Gln)
c.1949T>A (p.Leu650Gln)
c.1256T>A (p.Leu419Gln)
c.1622T>A (p.Leu541Gln)
c.*1117T>A (n.*1117T>A)
c.130T>A
c.2003T>A (p.Leu668Gln)
c.2078T>A (p.Leu693Gln)
c.*177T>A (n.*177T>A)
c.2114T>A (p.Leu705Gln)
c.2132T>A (p.Leu711Gln)
c.2021T>A (p.Leu674Gln)
c.1967T>A (p.Leu656Gln)
6g.30897441T>CCA363138547DDR1c.2060T>C (p.Leu687Pro)
c.1949T>C (p.Leu650Pro)
c.1256T>C (p.Leu419Pro)
c.1622T>C (p.Leu541Pro)
c.*1117T>C (n.*1117T>C)
c.130T>C
c.2003T>C (p.Leu668Pro)
c.2078T>C (p.Leu693Pro)
c.*177T>C (n.*177T>C)
c.2114T>C (p.Leu705Pro)
c.2132T>C (p.Leu711Pro)
c.2021T>C (p.Leu674Pro)
c.1967T>C (p.Leu656Pro)
6g.30897441T>GCA363138551DDR1c.2060T>G (p.Leu687Arg)
c.1949T>G (p.Leu650Arg)
c.1256T>G (p.Leu419Arg)
c.1622T>G (p.Leu541Arg)
c.*1117T>G (n.*1117T>G)
c.130T>G
c.2003T>G (p.Leu668Arg)
c.2078T>G (p.Leu693Arg)
c.*177T>G (n.*177T>G)
c.2114T>G (p.Leu705Arg)
c.2132T>G (p.Leu711Arg)
c.2021T>G (p.Leu674Arg)
c.1967T>G (p.Leu656Arg)
6g.30897442G>ACA449778601DDR1c.2061G>A (p.Leu687=)
c.1950G>A (p.Leu650=)
c.1257G>A (p.Leu419=)
c.1623G>A (p.Leu541=)
c.*1118G>A (n.*1118G>A)
c.131G>A
c.2004G>A (p.Leu668=)
c.2079G>A (p.Leu693=)
c.*178G>A (n.*178G>A)
c.2115G>A (p.Leu705=)
c.2133G>A (p.Leu711=)
c.2022G>A (p.Leu674=)
c.1968G>A (p.Leu656=)
dbSNP
6g.30897442G>CCA449778602DDR1c.2061G>C (p.Leu687=)
c.1950G>C (p.Leu650=)
c.1257G>C (p.Leu419=)
c.1623G>C (p.Leu541=)
c.*1118G>C (n.*1118G>C)
c.131G>C
c.2004G>C (p.Leu668=)
c.2079G>C (p.Leu693=)
c.*178G>C (n.*178G>C)
c.2115G>C (p.Leu705=)
c.2133G>C (p.Leu711=)
c.2022G>C (p.Leu674=)
c.1968G>C (p.Leu656=)
dbSNP gnomAD v2 gnomAD v4
6g.30897442G=CA1618917815DDR1c.2061G= (p.Leu687=)
c.1950G= (p.Leu650=)
c.1257G= (p.Leu419=)
c.1623G= (p.Leu541=)
c.*1118G= (n.*1118G=)
c.131G=
c.2004G= (p.Leu668=)
c.2079G= (p.Leu693=)
c.*178G= (n.*178G=)
c.2115G= (p.Leu705=)
c.2133G= (p.Leu711=)
c.2022G= (p.Leu674=)
c.1968G= (p.Leu656=)
6g.30897442G>TCA449778603DDR1c.2061G>T (p.Leu687=)
c.1950G>T (p.Leu650=)
c.1257G>T (p.Leu419=)
c.1623G>T (p.Leu541=)
c.*1118G>T (n.*1118G>T)
c.131G>T
c.2004G>T (p.Leu668=)
c.2079G>T (p.Leu693=)
c.*178G>T (n.*178G>T)
c.2115G>T (p.Leu705=)
c.2133G>T (p.Leu711=)
c.2022G>T (p.Leu674=)
c.1968G>T (p.Leu656=)
6g.30897443C>ACA363138553DDR1c.2062C>A (p.Leu688Met)
c.1951C>A (p.Leu651Met)
c.1258C>A (p.Leu420Met)
c.1624C>A (p.Leu542Met)
c.*1119C>A (n.*1119C>A)
c.132C>A
c.2005C>A (p.Leu669Met)
c.2080C>A (p.Leu694Met)
c.*179C>A (n.*179C>A)
c.2116C>A (p.Leu706Met)
c.2134C>A (p.Leu712Met)
c.2023C>A (p.Leu675Met)
c.1969C>A (p.Leu657Met)
6g.30897443C=CA1618917816DDR1c.2062C= (p.Leu688=)
c.1951C= (p.Leu651=)
c.1258C= (p.Leu420=)
c.1624C= (p.Leu542=)
c.*1119C= (n.*1119C=)
c.132C=
c.2005C= (p.Leu669=)
c.2080C= (p.Leu694=)
c.*179C= (n.*179C=)
c.2116C= (p.Leu706=)
c.2134C= (p.Leu712=)
c.2023C= (p.Leu675=)
c.1969C= (p.Leu657=)
6g.30897443C>GCA363138557DDR1c.2062C>G (p.Leu688Val)
c.1951C>G (p.Leu651Val)
c.1258C>G (p.Leu420Val)
c.1624C>G (p.Leu542Val)
c.*1119C>G (n.*1119C>G)
c.132C>G
c.2005C>G (p.Leu669Val)
c.2080C>G (p.Leu694Val)
c.*179C>G (n.*179C>G)
c.2116C>G (p.Leu706Val)
c.2134C>G (p.Leu712Val)
c.2023C>G (p.Leu675Val)
c.1969C>G (p.Leu657Val)
6g.30897443C>TCA449778606DDR1c.2062C>T (p.Leu688=)
c.1951C>T (p.Leu651=)
c.1258C>T (p.Leu420=)
c.1624C>T (p.Leu542=)
c.*1119C>T (n.*1119C>T)
c.132C>T
c.2005C>T (p.Leu669=)
c.2080C>T (p.Leu694=)
c.*179C>T (n.*179C>T)
c.2116C>T (p.Leu706=)
c.2134C>T (p.Leu712=)
c.2023C>T (p.Leu675=)
c.1969C>T (p.Leu657=)
dbSNP gnomAD v4
6g.30897444T>ACA363138562DDR1c.2063T>A (p.Leu688Gln)
c.1952T>A (p.Leu651Gln)
c.1259T>A (p.Leu420Gln)
c.1625T>A (p.Leu542Gln)
c.*1120T>A (n.*1120T>A)
c.133T>A
c.2006T>A (p.Leu669Gln)
c.2081T>A (p.Leu694Gln)
c.*180T>A (n.*180T>A)
c.2117T>A (p.Leu706Gln)
c.2135T>A (p.Leu712Gln)
c.2024T>A (p.Leu675Gln)
c.1970T>A (p.Leu657Gln)
6g.30897444T>CCA363138565DDR1c.2063T>C (p.Leu688Pro)
c.1952T>C (p.Leu651Pro)
c.1259T>C (p.Leu420Pro)
c.1625T>C (p.Leu542Pro)
c.*1120T>C (n.*1120T>C)
c.133T>C
c.2006T>C (p.Leu669Pro)
c.2081T>C (p.Leu694Pro)
c.*180T>C (n.*180T>C)
c.2117T>C (p.Leu706Pro)
c.2135T>C (p.Leu712Pro)
c.2024T>C (p.Leu675Pro)
c.1970T>C (p.Leu657Pro)
6g.30897444T>GCA363138567DDR1c.2063T>G (p.Leu688Arg)
c.1952T>G (p.Leu651Arg)
c.1259T>G (p.Leu420Arg)
c.1625T>G (p.Leu542Arg)
c.*1120T>G (n.*1120T>G)
c.133T>G
c.2006T>G (p.Leu669Arg)
c.2081T>G (p.Leu694Arg)
c.*180T>G (n.*180T>G)
c.2117T>G (p.Leu706Arg)
c.2135T>G (p.Leu712Arg)
c.2024T>G (p.Leu675Arg)
c.1970T>G (p.Leu657Arg)
6g.30897445G>ACA3704786DDR1c.2064G>A (p.Leu688=)
c.1953G>A (p.Leu651=)
c.1260G>A (p.Leu420=)
c.1626G>A (p.Leu542=)
c.*1121G>A (n.*1121G>A)
c.134G>A
c.2007G>A (p.Leu669=)
c.2082G>A (p.Leu694=)
c.*181G>A (n.*181G>A)
c.2118G>A (p.Leu706=)
c.2136G>A (p.Leu712=)
c.2025G>A (p.Leu675=)
c.1971G>A (p.Leu657=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897445G>CCA449778608DDR1c.2064G>C (p.Leu688=)
c.1953G>C (p.Leu651=)
c.1260G>C (p.Leu420=)
c.1626G>C (p.Leu542=)
c.*1121G>C (n.*1121G>C)
c.134G>C
c.2007G>C (p.Leu669=)
c.2082G>C (p.Leu694=)
c.*181G>C (n.*181G>C)
c.2118G>C (p.Leu706=)
c.2136G>C (p.Leu712=)
c.2025G>C (p.Leu675=)
c.1971G>C (p.Leu657=)
6g.30897445G=CA1618917817DDR1c.2064G= (p.Leu688=)
c.1953G= (p.Leu651=)
c.1260G= (p.Leu420=)
c.1626G= (p.Leu542=)
c.*1121G= (n.*1121G=)
c.134G=
c.2007G= (p.Leu669=)
c.2082G= (p.Leu694=)
c.*181G= (n.*181G=)
c.2118G= (p.Leu706=)
c.2136G= (p.Leu712=)
c.2025G= (p.Leu675=)
c.1971G= (p.Leu657=)
6g.30897445G>TCA449778610DDR1c.2064G>T (p.Leu688=)
c.1953G>T (p.Leu651=)
c.1260G>T (p.Leu420=)
c.1626G>T (p.Leu542=)
c.*1121G>T (n.*1121G>T)
c.134G>T
c.2007G>T (p.Leu669=)
c.2082G>T (p.Leu694=)
c.*181G>T (n.*181G>T)
c.2118G>T (p.Leu706=)
c.2136G>T (p.Leu712=)
c.2025G>T (p.Leu675=)
c.1971G>T (p.Leu657=)
6g.30897446G>ACA363138575DDR1c.2065G>A (p.Gly689Ser)
c.1954G>A (p.Gly652Ser)
c.1261G>A (p.Gly421Ser)
c.1627G>A (p.Gly543Ser)
c.*1122G>A (n.*1122G>A)
c.135G>A
c.2008G>A (p.Gly670Ser)
c.2083G>A (p.Gly695Ser)
c.*182G>A (n.*182G>A)
c.2119G>A (p.Gly707Ser)
c.2137G>A (p.Gly713Ser)
c.2026G>A (p.Gly676Ser)
c.1972G>A (p.Gly658Ser)
6g.30897446G>CCA363138577DDR1c.2065G>C (p.Gly689Arg)
c.1954G>C (p.Gly652Arg)
c.1261G>C (p.Gly421Arg)
c.1627G>C (p.Gly543Arg)
c.*1122G>C (n.*1122G>C)
c.135G>C
c.2008G>C (p.Gly670Arg)
c.2083G>C (p.Gly695Arg)
c.*182G>C (n.*182G>C)
c.2119G>C (p.Gly707Arg)
c.2137G>C (p.Gly713Arg)
c.2026G>C (p.Gly676Arg)
c.1972G>C (p.Gly658Arg)
6g.30897446G>TCA363138580DDR1c.2065G>T (p.Gly689Cys)
c.1954G>T (p.Gly652Cys)
c.1261G>T (p.Gly421Cys)
c.1627G>T (p.Gly543Cys)
c.*1122G>T (n.*1122G>T)
c.135G>T
c.2008G>T (p.Gly670Cys)
c.2083G>T (p.Gly695Cys)
c.*182G>T (n.*182G>T)
c.2119G>T (p.Gly707Cys)
c.2137G>T (p.Gly713Cys)
c.2026G>T (p.Gly676Cys)
c.1972G>T (p.Gly658Cys)
6g.30897447G>ACA363138584DDR1c.2066G>A (p.Gly689Asp)
c.1955G>A (p.Gly652Asp)
c.1262G>A (p.Gly421Asp)
c.1628G>A (p.Gly543Asp)
c.*1123G>A (n.*1123G>A)
c.136G>A
c.2009G>A (p.Gly670Asp)
c.2084G>A (p.Gly695Asp)
c.*183G>A (n.*183G>A)
c.2120G>A (p.Gly707Asp)
c.2138G>A (p.Gly713Asp)
c.2027G>A (p.Gly676Asp)
c.1973G>A (p.Gly658Asp)
6g.30897447G>CCA363138587DDR1c.2066G>C (p.Gly689Ala)
c.1955G>C (p.Gly652Ala)
c.1262G>C (p.Gly421Ala)
c.1628G>C (p.Gly543Ala)
c.*1123G>C (n.*1123G>C)
c.136G>C
c.2009G>C (p.Gly670Ala)
c.2084G>C (p.Gly695Ala)
c.*183G>C (n.*183G>C)
c.2120G>C (p.Gly707Ala)
c.2138G>C (p.Gly713Ala)
c.2027G>C (p.Gly676Ala)
c.1973G>C (p.Gly658Ala)
6g.30897447G>TCA363138589DDR1c.2066G>T (p.Gly689Val)
c.1955G>T (p.Gly652Val)
c.1262G>T (p.Gly421Val)
c.1628G>T (p.Gly543Val)
c.*1123G>T (n.*1123G>T)
c.136G>T
c.2009G>T (p.Gly670Val)
c.2084G>T (p.Gly695Val)
c.*183G>T (n.*183G>T)
c.2120G>T (p.Gly707Val)
c.2138G>T (p.Gly713Val)
c.2027G>T (p.Gly676Val)
c.1973G>T (p.Gly658Val)
6g.30897448C>ACA449778613DDR1c.2067C>A (p.Gly689=)
c.1956C>A (p.Gly652=)
c.1263C>A (p.Gly421=)
c.1629C>A (p.Gly543=)
c.*1124C>A (n.*1124C>A)
c.137C>A
c.2010C>A (p.Gly670=)
c.2085C>A (p.Gly695=)
c.*184C>A (n.*184C>A)
c.2121C>A (p.Gly707=)
c.2139C>A (p.Gly713=)
c.2028C>A (p.Gly676=)
c.1974C>A (p.Gly658=)
6g.30897448C=CA1618917818DDR1c.2067C= (p.Gly689=)
c.1956C= (p.Gly652=)
c.1263C= (p.Gly421=)
c.1629C= (p.Gly543=)
c.*1124C= (n.*1124C=)
c.137C=
c.2010C= (p.Gly670=)
c.2085C= (p.Gly695=)
c.*184C= (n.*184C=)
c.2121C= (p.Gly707=)
c.2139C= (p.Gly713=)
c.2028C= (p.Gly676=)
c.1974C= (p.Gly658=)
6g.30897448C>GCA449778615DDR1c.2067C>G (p.Gly689=)
c.1956C>G (p.Gly652=)
c.1263C>G (p.Gly421=)
c.1629C>G (p.Gly543=)
c.*1124C>G (n.*1124C>G)
c.137C>G
c.2010C>G (p.Gly670=)
c.2085C>G (p.Gly695=)
c.*184C>G (n.*184C>G)
c.2121C>G (p.Gly707=)
c.2139C>G (p.Gly713=)
c.2028C>G (p.Gly676=)
c.1974C>G (p.Gly658=)
6g.30897448C>TCA449778617DDR1c.2067C>T (p.Gly689=)
c.1956C>T (p.Gly652=)
c.1263C>T (p.Gly421=)
c.1629C>T (p.Gly543=)
c.*1124C>T (n.*1124C>T)
c.137C>T
c.2010C>T (p.Gly670=)
c.2085C>T (p.Gly695=)
c.*184C>T (n.*184C>T)
c.2121C>T (p.Gly707=)
c.2139C>T (p.Gly713=)
c.2028C>T (p.Gly676=)
c.1974C>T (p.Gly658=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
6g.30897449G>ACA3704787DDR1c.2068G>A (p.Val690Met)
c.1957G>A (p.Val653Met)
c.1264G>A (p.Val422Met)
c.1630G>A (p.Val544Met)
c.*1125G>A (n.*1125G>A)
c.138G>A
c.2011G>A (p.Val671Met)
c.2086G>A (p.Val696Met)
c.*185G>A (n.*185G>A)
c.2122G>A (p.Val708Met)
c.2140G>A (p.Val714Met)
c.2029G>A (p.Val677Met)
c.1975G>A (p.Val659Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.30897449G>CCA363138595DDR1c.2068G>C (p.Val690Leu)
c.1957G>C (p.Val653Leu)
c.1264G>C (p.Val422Leu)
c.1630G>C (p.Val544Leu)
c.*1125G>C (n.*1125G>C)
c.138G>C
c.2011G>C (p.Val671Leu)
c.2086G>C (p.Val696Leu)
c.*185G>C (n.*185G>C)
c.2122G>C (p.Val708Leu)
c.2140G>C (p.Val714Leu)
c.2029G>C (p.Val677Leu)
c.1975G>C (p.Val659Leu)
gnomAD v4
6g.30897449G=CA1618917819DDR1c.2068G= (p.Val690=)
c.1957G= (p.Val653=)
c.1264G= (p.Val422=)
c.1630G= (p.Val544=)
c.*1125G= (n.*1125G=)
c.138G=
c.2011G= (p.Val671=)
c.2086G= (p.Val696=)
c.*185G= (n.*185G=)
c.2122G= (p.Val708=)
c.2140G= (p.Val714=)
c.2029G= (p.Val677=)
c.1975G= (p.Val659=)
6g.30897449G>TCA363138599DDR1c.2068G>T (p.Val690Leu)
c.1957G>T (p.Val653Leu)
c.1264G>T (p.Val422Leu)
c.1630G>T (p.Val544Leu)
c.*1125G>T (n.*1125G>T)
c.138G>T
c.2011G>T (p.Val671Leu)
c.2086G>T (p.Val696Leu)
c.*185G>T (n.*185G>T)
c.2122G>T (p.Val708Leu)
c.2140G>T (p.Val714Leu)
c.2029G>T (p.Val677Leu)
c.1975G>T (p.Val659Leu)
6g.30897456_30897457delCA449778618DDR1c.2075_2076del (p.Val692AlafsTer10)
c.1964_1965del (p.Val655AlafsTer10)
c.1271_1272del (p.Val424AlafsTer10)
c.1637_1638del (p.Val546AlafsTer10)
c.*1132_*1133del (n.*1132_*1133del)
c.145_146del
c.2018_2019del (p.Val673AlafsTer10)
c.2093_2094del (p.Val698AlafsTer10)
c.*192_*193del (n.*192_*193del)
c.2129_2130del (p.Val710AlafsTer10)
c.2147_2148del (p.Val716AlafsTer10)
c.2036_2037del (p.Val679AlafsTer10)
c.1982_1983del (p.Val661AlafsTer10)
gnomAD v4
6g.30897450T>ACA363138605DDR1c.2069T>A (p.Val690Glu)
c.1958T>A (p.Val653Glu)
c.1265T>A (p.Val422Glu)
c.1631T>A (p.Val544Glu)
c.*1126T>A (n.*1126T>A)
c.139T>A
c.2012T>A (p.Val671Glu)
c.2087T>A (p.Val696Glu)
c.*186T>A (n.*186T>A)
c.2123T>A (p.Val708Glu)
c.2141T>A (p.Val714Glu)
c.2030T>A (p.Val677Glu)
c.1976T>A (p.Val659Glu)
6g.30897450T>CCA363138608DDR1c.2069T>C (p.Val690Ala)
c.1958T>C (p.Val653Ala)
c.1265T>C (p.Val422Ala)
c.1631T>C (p.Val544Ala)
c.*1126T>C (n.*1126T>C)
c.139T>C
c.2012T>C (p.Val671Ala)
c.2087T>C (p.Val696Ala)
c.*186T>C (n.*186T>C)
c.2123T>C (p.Val708Ala)
c.2141T>C (p.Val714Ala)
c.2030T>C (p.Val677Ala)
c.1976T>C (p.Val659Ala)
dbSNP gnomAD v4
6g.30897450T>GCA363138613DDR1c.2069T>G (p.Val690Gly)
c.1958T>G (p.Val653Gly)
c.1265T>G (p.Val422Gly)
c.1631T>G (p.Val544Gly)
c.*1126T>G (n.*1126T>G)
c.139T>G
c.2012T>G (p.Val671Gly)
c.2087T>G (p.Val696Gly)
c.*186T>G (n.*186T>G)
c.2123T>G (p.Val708Gly)
c.2141T>G (p.Val714Gly)
c.2030T>G (p.Val677Gly)
c.1976T>G (p.Val659Gly)
6g.30897450T=CA1618917820DDR1c.2069T= (p.Val690=)
c.1958T= (p.Val653=)
c.1265T= (p.Val422=)
c.1631T= (p.Val544=)
c.*1126T= (n.*1126T=)
c.139T=
c.2012T= (p.Val671=)
c.2087T= (p.Val696=)
c.*186T= (n.*186T=)
c.2123T= (p.Val708=)
c.2141T= (p.Val714=)
c.2030T= (p.Val677=)
c.1976T= (p.Val659=)
6g.30897451G>ACA449778622DDR1c.2070G>A (p.Val690=)
c.1959G>A (p.Val653=)
c.1266G>A (p.Val422=)
c.1632G>A (p.Val544=)
c.*1127G>A (n.*1127G>A)
c.140G>A
c.2013G>A (p.Val671=)
c.2088G>A (p.Val696=)
c.*187G>A (n.*187G>A)
c.2124G>A (p.Val708=)
c.2142G>A (p.Val714=)
c.2031G>A (p.Val677=)
c.1977G>A (p.Val659=)
gnomAD v4
6g.30897451G>CCA449778623DDR1c.2070G>C (p.Val690=)
c.1959G>C (p.Val653=)
c.1266G>C (p.Val422=)
c.1632G>C (p.Val544=)
c.*1127G>C (n.*1127G>C)
c.140G>C
c.2013G>C (p.Val671=)
c.2088G>C (p.Val696=)
c.*187G>C (n.*187G>C)
c.2124G>C (p.Val708=)
c.2142G>C (p.Val714=)
c.2031G>C (p.Val677=)
c.1977G>C (p.Val659=)
6g.30897451G>TCA449778624DDR1c.2070G>T (p.Val690=)
c.1959G>T (p.Val653=)
c.1266G>T (p.Val422=)
c.1632G>T (p.Val544=)
c.*1127G>T (n.*1127G>T)
c.140G>T
c.2013G>T (p.Val671=)
c.2088G>T (p.Val696=)
c.*187G>T (n.*187G>T)
c.2124G>T (p.Val708=)
c.2142G>T (p.Val714=)
c.2031G>T (p.Val677=)
c.1977G>T (p.Val659=)
gnomAD v4
6g.30897452T>ACA363138618DDR1c.2071T>A (p.Cys691Ser)
c.1960T>A (p.Cys654Ser)
c.1267T>A (p.Cys423Ser)
c.1633T>A (p.Cys545Ser)
c.*1128T>A (n.*1128T>A)
c.141T>A
c.2014T>A (p.Cys672Ser)
c.2089T>A (p.Cys697Ser)
c.*188T>A (n.*188T>A)
c.2125T>A (p.Cys709Ser)
c.2143T>A (p.Cys715Ser)
c.2032T>A (p.Cys678Ser)
c.1978T>A (p.Cys660Ser)
6g.30897452T>CCA363138620DDR1c.2071T>C (p.Cys691Arg)
c.1960T>C (p.Cys654Arg)
c.1267T>C (p.Cys423Arg)
c.1633T>C (p.Cys545Arg)
c.*1128T>C (n.*1128T>C)
c.141T>C
c.2014T>C (p.Cys672Arg)
c.2089T>C (p.Cys697Arg)
c.*188T>C (n.*188T>C)
c.2125T>C (p.Cys709Arg)
c.2143T>C (p.Cys715Arg)
c.2032T>C (p.Cys678Arg)
c.1978T>C (p.Cys660Arg)
dbSNP
6g.30897452T>GCA363138617DDR1c.2071T>G (p.Cys691Gly)
c.1960T>G (p.Cys654Gly)
c.1267T>G (p.Cys423Gly)
c.1633T>G (p.Cys545Gly)
c.*1128T>G (n.*1128T>G)
c.141T>G
c.2014T>G (p.Cys672Gly)
c.2089T>G (p.Cys697Gly)
c.*188T>G (n.*188T>G)
c.2125T>G (p.Cys709Gly)
c.2143T>G (p.Cys715Gly)
c.2032T>G (p.Cys678Gly)
c.1978T>G (p.Cys660Gly)
6g.30897452T=CA1618917821DDR1c.2071T= (p.Cys691=)
c.1960T= (p.Cys654=)
c.1267T= (p.Cys423=)
c.1633T= (p.Cys545=)
c.*1128T= (n.*1128T=)
c.141T=
c.2014T= (p.Cys672=)
c.2089T= (p.Cys697=)
c.*188T= (n.*188T=)
c.2125T= (p.Cys709=)
c.2143T= (p.Cys715=)
c.2032T= (p.Cys678=)
c.1978T= (p.Cys660=)
6g.30897453G>ACA363138630DDR1c.2072G>A (p.Cys691Tyr)
c.1961G>A (p.Cys654Tyr)
c.1268G>A (p.Cys423Tyr)
c.1634G>A (p.Cys545Tyr)
c.*1129G>A (n.*1129G>A)
c.142G>A
c.2015G>A (p.Cys672Tyr)
c.2090G>A (p.Cys697Tyr)
c.*189G>A (n.*189G>A)
c.2126G>A (p.Cys709Tyr)
c.2144G>A (p.Cys715Tyr)
c.2033G>A (p.Cys678Tyr)
c.1979G>A (p.Cys660Tyr)
dbSNP COSMIC COSMIC COSMIC COSMIC
6g.30897453G>CCA363138625DDR1c.2072G>C (p.Cys691Ser)
c.1961G>C (p.Cys654Ser)
c.1268G>C (p.Cys423Ser)
c.1634G>C (p.Cys545Ser)
c.*1129G>C (n.*1129G>C)
c.142G>C
c.2015G>C (p.Cys672Ser)
c.2090G>C (p.Cys697Ser)
c.*189G>C (n.*189G>C)
c.2126G>C (p.Cys709Ser)
c.2144G>C (p.Cys715Ser)
c.2033G>C (p.Cys678Ser)
c.1979G>C (p.Cys660Ser)
6g.30897453G>TCA363138628DDR1c.2072G>T (p.Cys691Phe)
c.1961G>T (p.Cys654Phe)
c.1268G>T (p.Cys423Phe)
c.1634G>T (p.Cys545Phe)
c.*1129G>T (n.*1129G>T)
c.142G>T
c.2015G>T (p.Cys672Phe)
c.2090G>T (p.Cys697Phe)
c.*189G>T (n.*189G>T)
c.2126G>T (p.Cys709Phe)
c.2144G>T (p.Cys715Phe)
c.2033G>T (p.Cys678Phe)
c.1979G>T (p.Cys660Phe)

Number of alleles fetched