| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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 |