Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.30897353C>G | CA2553133696 | DDR1 | c.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) | |
6 | g.30897353C>T | CA2711427017 | DDR1 | c.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 |
6 | g.30897355C= | CA1618917777 | DDR1 | c.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=) | |
6 | g.30897355C>G | CA566687317 | DDR1 | c.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 |
6 | g.30897356T>C | CA1618917779 | DDR1 | c.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 |
6 | g.30897356T= | CA1618917778 | DDR1 | c.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=) | |
6 | g.30897357T>G | CA2677904219 | DDR1 | c.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 |
6 | g.30897358C>A | CA1618917781 | DDR1 | c.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 |
6 | g.30897358C= | CA1618917780 | DDR1 | c.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=) | |
6 | g.30897359A>C | CA363137924 | DDR1 | c.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) | |
6 | g.30897359A>G | CA363137925 | DDR1 | c.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) | |
6 | g.30897359A>T | CA363137927 | DDR1 | c.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) | |
6 | g.30897360G>A | CA363137931 | DDR1 | c.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) | |
6 | g.30897360G>C | CA363137933 | DDR1 | c.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 |
6 | g.30897360G= | CA1618917782 | DDR1 | c.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=) | |
6 | g.30897360G>T | CA363137935 | DDR1 | c.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 |
6 | g.30897361C>A | CA363137939 | DDR1 | c.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) | |
6 | g.30897361C= | CA1618917783 | DDR1 | c.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=) | |
6 | g.30897361C>G | CA363137941 | DDR1 | c.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) | |
6 | g.30897361C>T | CA3704770 | DDR1 | c.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 |
6 | g.30897362T>A | CA363137947 | DDR1 | c.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) | |
6 | g.30897362T>C | CA363137952 | DDR1 | c.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) | |
6 | g.30897362T>G | CA363137950 | DDR1 | c.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) | |
6 | g.30897363T>A | CA363137956 | DDR1 | c.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) | |
6 | g.30897363T>C | CA363137957 | DDR1 | c.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) | |
6 | g.30897363T>G | CA363137960 | DDR1 | c.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) | |
6 | g.30897363_30897366delinsTCTC | CA1618917784 | DDR1 | c.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=) | |
6 | g.30897364C>A | CA363137961 | DDR1 | c.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) | |
6 | g.30897364C= | CA1618917785 | DDR1 | c.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=) | |
6 | g.30897364C>G | CA363137963 | DDR1 | c.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) | |
6 | g.30897364C>T | CA3704771 | DDR1 | c.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 |
6 | g.30897366_30897368del | CA566687375 | DDR1 | c.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 |
6 | g.30897365T>A | CA363137974 | DDR1 | c.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 |
6 | g.30897365T>C | CA363137970 | DDR1 | c.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) | |
6 | g.30897365T>G | CA363137972 | DDR1 | c.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) | |
6 | g.30897365T= | CA1618917786 | DDR1 | c.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=) | |
6 | g.30897366C>A | CA363137976 | DDR1 | c.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 |
6 | g.30897366C>G | CA363137979 | DDR1 | c.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) | |
6 | g.30897366C>T | CA363137983 | DDR1 | c.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) | |
6 | g.30897367C>A | CA449778461 | DDR1 | c.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=) | |
6 | g.30897367C>G | CA449778463 | DDR1 | c.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=) | |
6 | g.30897367C>T | CA449778464 | DDR1 | c.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 |
6 | g.30897368T>A | CA363137985 | DDR1 | c.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 |
6 | g.30897368T>C | CA449778466 | DDR1 | c.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=) | |
6 | g.30897368T>G | CA363137987 | DDR1 | c.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 |
6 | g.30897368T= | CA1618917787 | DDR1 | c.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=) | |
6 | g.30897369del | CA2499343788 | DDR1 | c.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) | |
6 | g.30897369T>A | CA363137989 | DDR1 | c.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) | |
6 | g.30897369T>C | CA363137992 | DDR1 | c.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) | |
6 | g.30897369T>G | CA363137990 | DDR1 | c.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) | |
6 | g.30897370G>A | CA449778471 | DDR1 | c.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=) | |
6 | g.30897370G>C | CA363137995 | DDR1 | c.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) | |
6 | g.30897370G>T | CA363137997 | DDR1 | c.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) | |
6 | g.30897371T>A | CA363138001 | DDR1 | c.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) | |
6 | g.30897371T>C | CA3704772 | DDR1 | c.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 |
6 | g.30897371T>G | CA363138004 | DDR1 | c.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) | |
6 | g.30897371T= | CA1618917788 | DDR1 | c.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=) | |
6 | g.30897372T>A | CA363138008 | DDR1 | c.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) | |
6 | g.30897372T>C | CA363138009 | DDR1 | c.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) | |
6 | g.30897372T>G | CA363138011 | DDR1 | c.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) | |
6 | g.30897373C>A | CA363138013 | DDR1 | c.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) | |
6 | g.30897373C= | CA1618917789 | DDR1 | c.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=) | |
6 | g.30897373C>G | CA363138015 | DDR1 | c.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) | |
6 | g.30897373C>T | CA449778478 | DDR1 | c.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 |
6 | g.30897374T>A | CA363138019 | DDR1 | c.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) | |
6 | g.30897374T>C | CA363138023 | DDR1 | c.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) | |
6 | g.30897374T>G | CA363138022 | DDR1 | c.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) | |
6 | g.30897375C>A | CA363138027 | DDR1 | c.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) | |
6 | g.30897375C>G | CA363138032 | DDR1 | c.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) | |
6 | g.30897375C>T | CA363138030 | DDR1 | c.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 |
6 | g.30897376C>A | CA449778483 | DDR1 | c.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=) | |
6 | g.30897376C>G | CA449778484 | DDR1 | c.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=) | |
6 | g.30897376C>T | CA449778486 | DDR1 | c.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=) | |
6 | g.30897377A= | CA1618917790 | DDR1 | c.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=) | |
6 | g.30897377A>C | CA363138036 | DDR1 | c.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=) | |
6 | g.30897377A>G | CA363138041 | DDR1 | c.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 |
6 | g.30897377A>T | CA363138038 | DDR1 | c.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) | |
6 | g.30897378G>A | CA363138044 | DDR1 | c.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) | |
6 | g.30897378G>C | CA363138047 | DDR1 | c.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) | |
6 | g.30897378G>T | CA363138049 | DDR1 | c.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) | |
6 | g.30897379G>A | CA449778490 | DDR1 | c.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 |
6 | g.30897379G>C | CA363138052 | DDR1 | c.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 |
6 | g.30897379G= | CA1618917791 | DDR1 | c.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=) | |
6 | g.30897379G>T | CA363138054 | DDR1 | c.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) | |
6 | g.30897380A>C | CA363138058 | DDR1 | c.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) | |
6 | g.30897380A>G | CA363138060 | DDR1 | c.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) | |
6 | g.30897380A>T | CA363138063 | DDR1 | c.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) | |
6 | g.30897381A>C | CA363138066 | DDR1 | c.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) | |
6 | g.30897381A>G | CA363138069 | DDR1 | c.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) | |
6 | g.30897381A>T | CA363138072 | DDR1 | c.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) | |
6 | g.30897382T>A | CA363138077 | DDR1 | c.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) | |
6 | g.30897382T>C | CA449778494 | DDR1 | c.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 |
6 | g.30897382T>G | CA363138075 | DDR1 | c.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) | |
6 | g.30897382T= | CA1618917792 | DDR1 | c.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=) | |
6 | g.30897383G>A | CA363138080 | DDR1 | c.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) | |
6 | g.30897383G>C | CA363138081 | DDR1 | c.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) | |
6 | g.30897383G>T | CA363138084 | DDR1 | c.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) | |
6 | g.30897384A>C | CA363138087 | DDR1 | c.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) | |
6 | g.30897384A>G | CA363138090 | DDR1 | c.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 |
6 | g.30897384A>T | CA363138092 | DDR1 | c.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) | |
6 | g.30897385T>A | CA363138095 | DDR1 | c.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) | |
6 | g.30897385T>C | CA449778497 | DDR1 | c.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=) | |
6 | g.30897385T>G | CA363138097 | DDR1 | c.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 |
6 | g.30897386T>A | CA363138102 | DDR1 | c.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) | |
6 | g.30897386T>C | CA363138104 | DDR1 | c.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) | |
6 | g.30897386T>G | CA363138106 | DDR1 | c.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) | |
6 | g.30897387T>A | CA363138111 | DDR1 | c.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) | |
6 | g.30897387T>C | CA363138115 | DDR1 | c.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) | |
6 | g.30897387T>G | CA363138110 | DDR1 | c.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) | |
6 | g.30897388C>A | CA363138118 | DDR1 | c.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) | |
6 | g.30897388C>G | CA363138121 | DDR1 | c.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) | |
6 | g.30897388C>T | CA449778503 | DDR1 | c.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=) | |
6 | g.30897389C>A | CA363138124 | DDR1 | c.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) | |
6 | g.30897389C= | CA1618917793 | DDR1 | c.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=) | |
6 | g.30897389C>G | CA363138126 | DDR1 | c.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) | |
6 | g.30897389C>T | CA3704773 | DDR1 | c.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 |
6 | g.30897390T>A | CA363138130 | DDR1 | c.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) | |
6 | g.30897390T>C | CA363138132 | DDR1 | c.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) | |
6 | g.30897390T>G | CA363138135 | DDR1 | c.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) | |
6 | g.30897391G>A | CA449778508 | DDR1 | c.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=) | |
6 | g.30897391G>C | CA449778506 | DDR1 | c.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 |
6 | g.30897391G>T | CA449778507 | DDR1 | c.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=) | |
6 | g.30897392A>C | CA363138138 | DDR1 | c.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) | |
6 | g.30897392A>G | CA363138140 | DDR1 | c.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 |
6 | g.30897392A>T | CA363138142 | DDR1 | c.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) | |
6 | g.30897393A= | CA1618917795 | DDR1 | c.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=) | |
6 | g.30897393A>C | CA363138149 | DDR1 | c.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) | |
6 | g.30897393A>G | CA363138152 | DDR1 | c.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 |
6 | g.30897393A>T | CA363138144 | DDR1 | c.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) | |
6 | g.30897393_30897395delinsAAG | CA1618917794 | DDR1 | c.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=) | |
6 | g.30897394A>C | CA363138156 | DDR1 | c.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) | |
6 | g.30897394A>G | CA449778509 | DDR1 | c.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=) | |
6 | g.30897394A>T | CA363138158 | DDR1 | c.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) | |
6 | g.30897396_30897397del | CA823836371 | DDR1 | c.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 |
6 | g.30897395G>A | CA363138163 | DDR1 | c.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) | |
6 | g.30897395G>C | CA363138165 | DDR1 | c.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 |
6 | g.30897395G>T | CA363138167 | DDR1 | c.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) | |
6 | g.30897396A>C | CA363138178 | DDR1 | c.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) | |
6 | g.30897396A>G | CA363138173 | DDR1 | c.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) | |
6 | g.30897396A>T | CA363138175 | DDR1 | c.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) | |
6 | g.30897397G>A | CA449778513 | DDR1 | c.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=) | |
6 | g.30897397G>C | CA363138183 | DDR1 | c.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 |
6 | g.30897397G= | CA1618917796 | DDR1 | c.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=) | |
6 | g.30897397G>T | CA363138184 | DDR1 | c.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) | |
6 | g.30897398G>A | CA363138188 | DDR1 | c.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 |
6 | g.30897398G>C | CA363138191 | DDR1 | c.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) | |
6 | g.30897398G= | CA1618917797 | DDR1 | c.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=) | |
6 | g.30897398G>T | CA363138195 | DDR1 | c.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 |
6 | g.30897399T>A | CA363138204 | DDR1 | c.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) | |
6 | g.30897399T>C | CA363138202 | DDR1 | c.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) | |
6 | g.30897399T>G | CA363138198 | DDR1 | c.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) | |
6 | g.30897400G>A | CA449778516 | DDR1 | c.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 |
6 | g.30897400G>C | CA449778517 | DDR1 | c.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=) | |
6 | g.30897400G= | CA1618917798 | DDR1 | c.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=) | |
6 | g.30897400G>T | CA449778518 | DDR1 | c.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=) | |
6 | g.30897401A>C | CA363138208 | DDR1 | c.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) | |
6 | g.30897401A>G | CA363138215 | DDR1 | c.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) | |
6 | g.30897401A>T | CA363138211 | DDR1 | c.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) | |
6 | g.30897402A>C | CA363138219 | DDR1 | c.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) | |
6 | g.30897402A>G | CA363138221 | DDR1 | c.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) | |
6 | g.30897402A>T | CA363138224 | DDR1 | c.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) | |
6 | g.30897403G>A | CA449778526 | DDR1 | c.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=) | |
6 | g.30897403G>C | CA363138228 | DDR1 | c.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) | |
6 | g.30897403G>T | CA363138232 | DDR1 | c.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) | |
6 | g.30897404A>C | CA363138236 | DDR1 | c.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) | |
6 | g.30897404A>G | CA363138239 | DDR1 | c.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 |
6 | g.30897404A>T | CA363138242 | DDR1 | c.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) | |
6 | g.30897405T>A | CA363138247 | DDR1 | c.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) | |
6 | g.30897405T>C | CA363138249 | DDR1 | c.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) | |
6 | g.30897405T>G | CA363138253 | DDR1 | c.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) | |
6 | g.30897406C>A | CA449778530 | DDR1 | c.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 |
6 | g.30897406C>G | CA363138258 | DDR1 | c.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) | |
6 | g.30897406C>T | CA449778534 | DDR1 | c.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 |
6 | g.30897407A>C | CA363138262 | DDR1 | c.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) | |
6 | g.30897407A>G | CA363138271 | DDR1 | c.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) | |
6 | g.30897407A>T | CA363138268 | DDR1 | c.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) | |
6 | g.30897408T>A | CA363138276 | DDR1 | c.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) | |
6 | g.30897408T>C | CA3704774 | DDR1 | c.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 |
6 | g.30897408T>G | CA363138281 | DDR1 | c.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) | |
6 | g.30897408T= | CA1618917799 | DDR1 | c.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=) | |
6 | g.30897409G>A | CA363138287 | DDR1 | c.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) | |
6 | g.30897409G>C | CA363138291 | DDR1 | c.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) | |
6 | g.30897409G>T | CA363138292 | DDR1 | c.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) | |
6 | g.30897410T>A | CA363138296 | DDR1 | c.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) | |
6 | g.30897410T>C | CA363138298 | DDR1 | c.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) | |
6 | g.30897410T>G | CA363138302 | DDR1 | c.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) | |
6 | g.30897411C>A | CA363138308 | DDR1 | c.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) | |
6 | g.30897411C= | CA1618917800 | DDR1 | c.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=) | |
6 | g.30897411C>G | CA363138311 | DDR1 | c.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) | |
6 | g.30897411C>T | CA3704775 | DDR1 | c.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 |
6 | g.30897412G>A | CA3704776 | DDR1 | c.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 |
6 | g.30897412G>C | CA3704777 | DDR1 | c.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 |
6 | g.30897412G= | CA1618917801 | DDR1 | c.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=) | |
6 | g.30897412G>T | CA449778546 | DDR1 | c.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 |
6 | g.30897413A>C | CA449778547 | DDR1 | c.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=) | |
6 | g.30897413A>G | CA363138320 | DDR1 | c.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) | |
6 | g.30897413A>T | CA363138323 | DDR1 | c.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) | |
6 | g.30897414G>A | CA363138327 | DDR1 | c.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 |
6 | g.30897414G>C | CA363138330 | DDR1 | c.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) | |
6 | g.30897414G= | CA1618917802 | DDR1 | c.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=) | |
6 | g.30897414G>T | CA363138333 | DDR1 | c.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) | |
6 | g.30897415G>A | CA449778551 | DDR1 | c.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=) | |
6 | g.30897415G>C | CA363138334 | DDR1 | c.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) | |
6 | g.30897415G>T | CA363138338 | DDR1 | c.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) | |
6 | g.30897416C>A | CA363138344 | DDR1 | c.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 |
6 | g.30897416C= | CA1618917803 | DDR1 | c.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=) | |
6 | g.30897416C>G | CA363138347 | DDR1 | c.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) | |
6 | g.30897416C>T | CA363138350 | DDR1 | c.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 |
6 | g.30897417T>A | CA363138359 | DDR1 | c.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) | |
6 | g.30897417T>C | CA363138362 | DDR1 | c.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 |
6 | g.30897417T>G | CA363138356 | DDR1 | c.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) | |
6 | g.30897417T= | CA1618917804 | DDR1 | c.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=) | |
6 | g.30897418C>A | CA449778559 | DDR1 | c.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=) | |
6 | g.30897418C= | CA1618917805 | DDR1 | c.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=) | |
6 | g.30897418C>G | CA449778560 | DDR1 | c.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=) | |
6 | g.30897418C>T | CA449778561 | DDR1 | c.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 |
6 | g.30897419A>C | CA363138367 | DDR1 | c.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) | |
6 | g.30897419A>G | CA363138370 | DDR1 | c.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 |
6 | g.30897419A>T | CA363138373 | DDR1 | c.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) | |
6 | g.30897420A>C | CA363138378 | DDR1 | c.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) | |
6 | g.30897420A>G | CA363138381 | DDR1 | c.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) | |
6 | g.30897420A>T | CA363138385 | DDR1 | c.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) | |
6 | g.30897421G>A | CA449778565 | DDR1 | c.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=) | |
6 | g.30897421G>C | CA363138389 | DDR1 | c.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) | |
6 | g.30897421G>T | CA363138392 | DDR1 | c.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) | |
6 | g.30897422G>A | CA363138394 | DDR1 | c.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) | |
6 | g.30897422G>C | CA363138398 | DDR1 | c.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) | |
6 | g.30897422G= | CA1618917806 | DDR1 | c.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=) | |
6 | g.30897422G>T | CA363138401 | DDR1 | c.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 |
6 | g.30897423A>C | CA363138406 | DDR1 | c.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) | |
6 | g.30897423A>G | CA363138408 | DDR1 | c.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) | |
6 | g.30897423A>T | CA363138412 | DDR1 | c.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) | |
6 | g.30897424C>A | CA363138416 | DDR1 | c.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) | |
6 | g.30897424C>G | CA363138419 | DDR1 | c.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) | |
6 | g.30897424C>T | CA449778574 | DDR1 | c.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=) | |
6 | g.30897425C>A | CA363138425 | DDR1 | c.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) | |
6 | g.30897425C>G | CA363138431 | DDR1 | c.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) | |
6 | g.30897425C>T | CA363138427 | DDR1 | c.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) | |
6 | g.30897426C>A | CA363138437 | DDR1 | c.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 |
6 | g.30897426C= | CA1618917807 | DDR1 | c.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=) | |
6 | g.30897426C>G | CA3704778 | DDR1 | c.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 |
6 | g.30897426C>T | CA363138439 | DDR1 | c.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 |
6 | g.30897427A= | CA1618917808 | DDR1 | c.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=) | |
6 | g.30897427A>C | CA3704779 | DDR1 | c.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 |
6 | g.30897427A>G | CA449778578 | DDR1 | c.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=) | |
6 | g.30897427A>T | CA449778579 | DDR1 | c.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=) | |
6 | g.30897428A>C | CA363138451 | DDR1 | c.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) | |
6 | g.30897428A>G | CA363138445 | DDR1 | c.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) | |
6 | g.30897428A>T | CA363138449 | DDR1 | c.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) | |
6 | g.30897429A= | CA1618917809 | DDR1 | c.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=) | |
6 | g.30897429A>C | CA363138454 | DDR1 | c.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) | |
6 | g.30897429A>G | CA363138457 | DDR1 | c.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 |
6 | g.30897429A>T | CA363138459 | DDR1 | c.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) | |
6 | g.30897430C>A | CA363138462 | DDR1 | c.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) | |
6 | g.30897430C>G | CA363138465 | DDR1 | c.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) | |
6 | g.30897430C>T | CA449778582 | DDR1 | c.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 |
6 | g.30897431A>C | CA363138469 | DDR1 | c.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) | |
6 | g.30897431A>G | CA363138472 | DDR1 | c.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 |
6 | g.30897431A>T | CA363138476 | DDR1 | c.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) | |
6 | g.30897432T>A | CA363138484 | DDR1 | c.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) | |
6 | g.30897432T>C | CA363138480 | DDR1 | c.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 |
6 | g.30897432T>G | CA363138479 | DDR1 | c.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) | |
6 | g.30897433C>A | CA3704781 | DDR1 | c.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 |
6 | g.30897433C= | CA1618917810 | DDR1 | c.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=) | |
6 | g.30897433C>G | CA363138490 | DDR1 | c.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) | |
6 | g.30897433C>T | CA3704780 | DDR1 | c.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 |
6 | g.30897434A= | CA1618917811 | DDR1 | c.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=) | |
6 | g.30897434A>C | CA363138496 | DDR1 | c.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) | |
6 | g.30897434A>G | CA363138500 | DDR1 | c.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 |
6 | g.30897434A>T | CA363138502 | DDR1 | c.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) | |
6 | g.30897434dup | CA136787791 | DDR1 | c.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 |
6 | g.30897435T>A | CA363138505 | DDR1 | c.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) | |
6 | g.30897435T>C | CA3704782 | DDR1 | c.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 |
6 | g.30897435T>G | CA363138515 | DDR1 | c.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) | |
6 | g.30897435T= | CA1618917812 | DDR1 | c.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=) | |
6 | g.30897436T>A | CA449778590 | DDR1 | c.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=) | |
6 | g.30897436T>C | CA449778591 | DDR1 | c.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=) | |
6 | g.30897436T>G | CA363138518 | DDR1 | c.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) | |
6 | g.30897437C>A | CA3704784 | DDR1 | c.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 |
6 | g.30897437C= | CA1618917813 | DDR1 | c.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=) | |
6 | g.30897437C>G | CA363138525 | DDR1 | c.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 |
6 | g.30897437C>T | CA3704783 | DDR1 | c.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 |
6 | g.30897438G>A | CA363138530 | DDR1 | c.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 |
6 | g.30897438G>C | CA3704785 | DDR1 | c.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 |
6 | g.30897438G= | CA1618917814 | DDR1 | c.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=) | |
6 | g.30897438G>T | CA363138532 | DDR1 | c.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) | |
6 | g.30897439G>A | CA449778594 | DDR1 | c.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 |
6 | g.30897439G>C | CA449778595 | DDR1 | c.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=) | |
6 | g.30897439G>T | CA449778596 | DDR1 | c.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=) | |
6 | g.30897440C>A | CA363138535 | DDR1 | c.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) | |
6 | g.30897440C>G | CA363138539 | DDR1 | c.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) | |
6 | g.30897440C>T | CA449778600 | DDR1 | c.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 |
6 | g.30897441T>A | CA363138543 | DDR1 | c.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) | |
6 | g.30897441T>C | CA363138547 | DDR1 | c.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) | |
6 | g.30897441T>G | CA363138551 | DDR1 | c.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) | |
6 | g.30897442G>A | CA449778601 | DDR1 | c.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 |
6 | g.30897442G>C | CA449778602 | DDR1 | c.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 |
6 | g.30897442G= | CA1618917815 | DDR1 | c.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=) | |
6 | g.30897442G>T | CA449778603 | DDR1 | c.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=) | |
6 | g.30897443C>A | CA363138553 | DDR1 | c.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) | |
6 | g.30897443C= | CA1618917816 | DDR1 | c.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=) | |
6 | g.30897443C>G | CA363138557 | DDR1 | c.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) | |
6 | g.30897443C>T | CA449778606 | DDR1 | c.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 |
6 | g.30897444T>A | CA363138562 | DDR1 | c.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) | |
6 | g.30897444T>C | CA363138565 | DDR1 | c.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) | |
6 | g.30897444T>G | CA363138567 | DDR1 | c.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) | |
6 | g.30897445G>A | CA3704786 | DDR1 | c.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 |
6 | g.30897445G>C | CA449778608 | DDR1 | c.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=) | |
6 | g.30897445G= | CA1618917817 | DDR1 | c.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=) | |
6 | g.30897445G>T | CA449778610 | DDR1 | c.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=) | |
6 | g.30897446G>A | CA363138575 | DDR1 | c.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) | |
6 | g.30897446G>C | CA363138577 | DDR1 | c.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) | |
6 | g.30897446G>T | CA363138580 | DDR1 | c.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) | |
6 | g.30897447G>A | CA363138584 | DDR1 | c.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) | |
6 | g.30897447G>C | CA363138587 | DDR1 | c.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) | |
6 | g.30897447G>T | CA363138589 | DDR1 | c.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) | |
6 | g.30897448C>A | CA449778613 | DDR1 | c.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=) | |
6 | g.30897448C= | CA1618917818 | DDR1 | c.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=) | |
6 | g.30897448C>G | CA449778615 | DDR1 | c.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=) | |
6 | g.30897448C>T | CA449778617 | DDR1 | c.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 |
6 | g.30897449G>A | CA3704787 | DDR1 | c.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 |
6 | g.30897449G>C | CA363138595 | DDR1 | c.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 |
6 | g.30897449G= | CA1618917819 | DDR1 | c.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=) | |
6 | g.30897449G>T | CA363138599 | DDR1 | c.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) | |
6 | g.30897456_30897457del | CA449778618 | DDR1 | c.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 |
6 | g.30897450T>A | CA363138605 | DDR1 | c.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) | |
6 | g.30897450T>C | CA363138608 | DDR1 | c.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 |
6 | g.30897450T>G | CA363138613 | DDR1 | c.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) | |
6 | g.30897450T= | CA1618917820 | DDR1 | c.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=) | |
6 | g.30897451G>A | CA449778622 | DDR1 | c.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 |
6 | g.30897451G>C | CA449778623 | DDR1 | c.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=) | |
6 | g.30897451G>T | CA449778624 | DDR1 | c.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 |
6 | g.30897452T>A | CA363138618 | DDR1 | c.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) | |
6 | g.30897452T>C | CA363138620 | DDR1 | c.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 |
6 | g.30897452T>G | CA363138617 | DDR1 | c.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) | |
6 | g.30897452T= | CA1618917821 | DDR1 | c.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=) | |
6 | g.30897453G>A | CA363138630 | DDR1 | c.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 |
6 | g.30897453G>C | CA363138625 | DDR1 | c.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) | |
6 | g.30897453G>T | CA363138628 | DDR1 | c.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) |