OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.4138244C>A | CA379186802 | RRM1 | c.2240C>A (p.Pro747Gln) c.*2116C>A (n.*2116C>A) c.*1948C>A (n.*1948C>A) c.*1388C>A (n.*1388C>A) c.1574C>A (p.Pro525Gln) c.1949C>A (p.Pro650Gln) c.1226C>A (p.Pro409Gln) | gnomAD v3 gnomAD v4 |
| 11 | g.4138244C>G | CA379186803 | RRM1 | c.2240C>G (p.Pro747Arg) c.*2116C>G (n.*2116C>G) c.*1948C>G (n.*1948C>G) c.*1388C>G (n.*1388C>G) c.1574C>G (p.Pro525Arg) c.1949C>G (p.Pro650Arg) c.1226C>G (p.Pro409Arg) | |
| 11 | g.4138244C>T | CA379186804 | RRM1 | c.2240C>T (p.Pro747Leu) c.*2116C>T (n.*2116C>T) c.*1948C>T (n.*1948C>T) c.*1388C>T (n.*1388C>T) c.1574C>T (p.Pro525Leu) c.1949C>T (p.Pro650Leu) c.1226C>T (p.Pro409Leu) | COSMIC |
| 11 | g.4138245A>C | CA472543037 | RRM1 | c.2241A>C (p.Pro747=) c.*2117A>C (n.*2117A>C) c.*1949A>C (n.*1949A>C) c.*1389A>C (n.*1389A>C) c.1575A>C (p.Pro525=) c.1950A>C (p.Pro650=) c.1227A>C (p.Pro409=) | |
| 11 | g.4138245A>G | CA472543038 | RRM1 | c.2241A>G (p.Pro747=) c.*2117A>G (n.*2117A>G) c.*1949A>G (n.*1949A>G) c.*1389A>G (n.*1389A>G) c.1575A>G (p.Pro525=) c.1950A>G (p.Pro650=) c.1227A>G (p.Pro409=) | |
| 11 | g.4138245A>T | CA472543039 | RRM1 | c.2241A>T (p.Pro747=) c.*2117A>T (n.*2117A>T) c.*1949A>T (n.*1949A>T) c.*1389A>T (n.*1389A>T) c.1575A>T (p.Pro525=) c.1950A>T (p.Pro650=) c.1227A>T (p.Pro409=) | COSMIC |
| 11 | g.4138246A= | CA1948963851 | RRM1 | c.2242A= (p.Ile748=) c.*2118A= (n.*2118A=) c.*1950A= (n.*1950A=) c.*1390A= (n.*1390A=) c.1576A= (p.Ile526=) c.1951A= (p.Ile651=) c.1228A= (p.Ile410=) | |
| 11 | g.4138246A>C | CA379186806 | RRM1 | c.2242A>C (p.Ile748Leu) c.*2118A>C (n.*2118A>C) c.*1950A>C (n.*1950A>C) c.*1390A>C (n.*1390A>C) c.1576A>C (p.Ile526Leu) c.1951A>C (p.Ile651Leu) c.1228A>C (p.Ile410Leu) | |
| 11 | g.4138246A>G | CA379186807 | RRM1 | c.2242A>G (p.Ile748Val) c.*2118A>G (n.*2118A>G) c.*1950A>G (n.*1950A>G) c.*1390A>G (n.*1390A>G) c.1576A>G (p.Ile526Val) c.1951A>G (p.Ile651Val) c.1228A>G (p.Ile410Val) | dbSNP |
| 11 | g.4138246A>T | CA379186805 | RRM1 | c.2242A>T (p.Ile748Phe) c.*2118A>T (n.*2118A>T) c.*1950A>T (n.*1950A>T) c.*1390A>T (n.*1390A>T) c.1576A>T (p.Ile526Phe) c.1951A>T (p.Ile651Phe) c.1228A>T (p.Ile410Phe) | |
| 11 | g.4138247T>A | CA379186810 | RRM1 | c.2243T>A (p.Ile748Asn) c.*2119T>A (n.*2119T>A) c.*1951T>A (n.*1951T>A) c.*1391T>A (n.*1391T>A) c.1577T>A (p.Ile526Asn) c.1952T>A (p.Ile651Asn) c.1229T>A (p.Ile410Asn) | |
| 11 | g.4138247T>C | CA379186808 | RRM1 | c.2243T>C (p.Ile748Thr) c.*2119T>C (n.*2119T>C) c.*1951T>C (n.*1951T>C) c.*1391T>C (n.*1391T>C) c.1577T>C (p.Ile526Thr) c.1952T>C (p.Ile651Thr) c.1229T>C (p.Ile410Thr) | |
| 11 | g.4138247T>G | CA379186809 | RRM1 | c.2243T>G (p.Ile748Ser) c.*2119T>G (n.*2119T>G) c.*1951T>G (n.*1951T>G) c.*1391T>G (n.*1391T>G) c.1577T>G (p.Ile526Ser) c.1952T>G (p.Ile651Ser) c.1229T>G (p.Ile410Ser) | |
| 11 | g.4138248C>A | CA472543041 | RRM1 | c.2244C>A (p.Ile748=) c.*2120C>A (n.*2120C>A) c.*1952C>A (n.*1952C>A) c.*1392C>A (n.*1392C>A) c.1578C>A (p.Ile526=) c.1953C>A (p.Ile651=) c.1230C>A (p.Ile410=) | dbSNP gnomAD v4 |
| 11 | g.4138248C>G | CA379186811 | RRM1 | c.2244C>G (p.Ile748Met) c.*2120C>G (n.*2120C>G) c.*1952C>G (n.*1952C>G) c.*1392C>G (n.*1392C>G) c.1578C>G (p.Ile526Met) c.1953C>G (p.Ile651Met) c.1230C>G (p.Ile410Met) | |
| 11 | g.4138248C>T | CA472543040 | RRM1 | c.2244C>T (p.Ile748=) c.*2120C>T (n.*2120C>T) c.*1952C>T (n.*1952C>T) c.*1392C>T (n.*1392C>T) c.1578C>T (p.Ile526=) c.1953C>T (p.Ile651=) c.1230C>T (p.Ile410=) | |
| 11 | g.4138249C>A | CA379186812 | RRM1 | c.2245C>A (p.Gln749Lys) c.*2121C>A (n.*2121C>A) c.*1953C>A (n.*1953C>A) c.*1393C>A (n.*1393C>A) c.1579C>A (p.Gln527Lys) c.1954C>A (p.Gln652Lys) c.1231C>A (p.Gln411Lys) | |
| 11 | g.4138249C>G | CA379186813 | RRM1 | c.2245C>G (p.Gln749Glu) c.*2121C>G (n.*2121C>G) c.*1953C>G (n.*1953C>G) c.*1393C>G (n.*1393C>G) c.1579C>G (p.Gln527Glu) c.1954C>G (p.Gln652Glu) c.1231C>G (p.Gln411Glu) | |
| 11 | g.4138249C>T | CA379186814 | RRM1 | c.2245C>T (p.Gln749Ter) c.*2121C>T (n.*2121C>T) c.*1953C>T (n.*1953C>T) c.*1393C>T (n.*1393C>T) c.1579C>T (p.Gln527Ter) c.1954C>T (p.Gln652Ter) c.1231C>T (p.Gln411Ter) | gnomAD v4 |
| 11 | g.4138250A>C | CA379186815 | RRM1 | c.2246A>C (p.Gln749Pro) c.*2122A>C (n.*2122A>C) c.*1954A>C (n.*1954A>C) c.*1394A>C (n.*1394A>C) c.1580A>C (p.Gln527Pro) c.1955A>C (p.Gln652Pro) c.1232A>C (p.Gln411Pro) | |
| 11 | g.4138250A>G | CA379186816 | RRM1 | c.2246A>G (p.Gln749Arg) c.*2122A>G (n.*2122A>G) c.*1954A>G (n.*1954A>G) c.*1394A>G (n.*1394A>G) c.1580A>G (p.Gln527Arg) c.1955A>G (p.Gln652Arg) c.1232A>G (p.Gln411Arg) | |
| 11 | g.4138250A>T | CA379186817 | RRM1 | c.2246A>T (p.Gln749Leu) c.*2122A>T (n.*2122A>T) c.*1954A>T (n.*1954A>T) c.*1394A>T (n.*1394A>T) c.1580A>T (p.Gln527Leu) c.1955A>T (p.Gln652Leu) c.1232A>T (p.Gln411Leu) | |
| 11 | g.4138251G>A | CA472543042 | RRM1 | c.2247G>A (p.Gln749=) c.*2123G>A (n.*2123G>A) c.*1955G>A (n.*1955G>A) c.*1395G>A (n.*1395G>A) c.1581G>A (p.Gln527=) c.1956G>A (p.Gln652=) c.1233G>A (p.Gln411=) | gnomAD v4 |
| 11 | g.4138251G>C | CA379186818 | RRM1 | c.2247G>C (p.Gln749His) c.*2123G>C (n.*2123G>C) c.*1955G>C (n.*1955G>C) c.*1395G>C (n.*1395G>C) c.1581G>C (p.Gln527His) c.1956G>C (p.Gln652His) c.1233G>C (p.Gln411His) | gnomAD v4 |
| 11 | g.4138251G>T | CA379186819 | RRM1 | c.2247G>T (p.Gln749His) c.*2123G>T (n.*2123G>T) c.*1955G>T (n.*1955G>T) c.*1395G>T (n.*1395G>T) c.1581G>T (p.Gln527His) c.1956G>T (p.Gln652His) c.1233G>T (p.Gln411His) | COSMIC |
| 11 | g.4138252T>A | CA379186822 | RRM1 | c.2248T>A (p.Phe750Ile) c.*2124T>A (n.*2124T>A) c.*1956T>A (n.*1956T>A) c.*1396T>A (n.*1396T>A) c.1582T>A (p.Phe528Ile) c.1957T>A (p.Phe653Ile) c.1234T>A (p.Phe412Ile) | |
| 11 | g.4138252T>C | CA379186821 | RRM1 | c.2248T>C (p.Phe750Leu) c.*2124T>C (n.*2124T>C) c.*1956T>C (n.*1956T>C) c.*1396T>C (n.*1396T>C) c.1582T>C (p.Phe528Leu) c.1957T>C (p.Phe653Leu) c.1234T>C (p.Phe412Leu) | |
| 11 | g.4138252T>G | CA379186820 | RRM1 | c.2248T>G (p.Phe750Val) c.*2124T>G (n.*2124T>G) c.*1956T>G (n.*1956T>G) c.*1396T>G (n.*1396T>G) c.1582T>G (p.Phe528Val) c.1957T>G (p.Phe653Val) c.1234T>G (p.Phe412Val) | |
| 11 | g.4138253T>A | CA379186823 | RRM1 | c.2249T>A (p.Phe750Tyr) c.*2125T>A (n.*2125T>A) c.*1957T>A (n.*1957T>A) c.*1397T>A (n.*1397T>A) c.1583T>A (p.Phe528Tyr) c.1958T>A (p.Phe653Tyr) c.1235T>A (p.Phe412Tyr) | |
| 11 | g.4138253T>C | CA379186824 | RRM1 | c.2249T>C (p.Phe750Ser) c.*2125T>C (n.*2125T>C) c.*1957T>C (n.*1957T>C) c.*1397T>C (n.*1397T>C) c.1583T>C (p.Phe528Ser) c.1958T>C (p.Phe653Ser) c.1235T>C (p.Phe412Ser) | |
| 11 | g.4138253T>G | CA379186825 | RRM1 | c.2249T>G (p.Phe750Cys) c.*2125T>G (n.*2125T>G) c.*1957T>G (n.*1957T>G) c.*1397T>G (n.*1397T>G) c.1583T>G (p.Phe528Cys) c.1958T>G (p.Phe653Cys) c.1235T>G (p.Phe412Cys) | |
| 11 | g.4138254C>A | CA379186826 | RRM1 | c.2250C>A (p.Phe750Leu) c.*2126C>A (n.*2126C>A) c.*1958C>A (n.*1958C>A) c.*1398C>A (n.*1398C>A) c.1584C>A (p.Phe528Leu) c.1959C>A (p.Phe653Leu) c.1236C>A (p.Phe412Leu) | gnomAD v4 |
| 11 | g.4138254C>G | CA379186827 | RRM1 | c.2250C>G (p.Phe750Leu) c.*2126C>G (n.*2126C>G) c.*1958C>G (n.*1958C>G) c.*1398C>G (n.*1398C>G) c.1584C>G (p.Phe528Leu) c.1959C>G (p.Phe653Leu) c.1236C>G (p.Phe412Leu) | |
| 11 | g.4138254C>T | CA472543043 | RRM1 | c.2250C>T (p.Phe750=) c.*2126C>T (n.*2126C>T) c.*1958C>T (n.*1958C>T) c.*1398C>T (n.*1398C>T) c.1584C>T (p.Phe528=) c.1959C>T (p.Phe653=) c.1236C>T (p.Phe412=) | gnomAD v4 |
| 11 | g.4138255A>C | CA379186828 | RRM1 | c.2251A>C (p.Thr751Pro) c.*2127A>C (n.*2127A>C) c.*1959A>C (n.*1959A>C) c.*1399A>C (n.*1399A>C) c.1585A>C (p.Thr529Pro) c.1960A>C (p.Thr654Pro) c.1237A>C (p.Thr413Pro) | |
| 11 | g.4138255A>G | CA379186829 | RRM1 | c.2251A>G (p.Thr751Ala) c.*2127A>G (n.*2127A>G) c.*1959A>G (n.*1959A>G) c.*1399A>G (n.*1399A>G) c.1585A>G (p.Thr529Ala) c.1960A>G (p.Thr654Ala) c.1237A>G (p.Thr413Ala) | |
| 11 | g.4138255A>T | CA379186830 | RRM1 | c.2251A>T (p.Thr751Ser) c.*2127A>T (n.*2127A>T) c.*1959A>T (n.*1959A>T) c.*1399A>T (n.*1399A>T) c.1585A>T (p.Thr529Ser) c.1960A>T (p.Thr654Ser) c.1237A>T (p.Thr413Ser) | |
| 11 | g.4138256C>A | CA379186831 | RRM1 | c.2252C>A (p.Thr751Asn) c.*2128C>A (n.*2128C>A) c.*1960C>A (n.*1960C>A) c.*1400C>A (n.*1400C>A) c.1586C>A (p.Thr529Asn) c.1961C>A (p.Thr654Asn) c.1238C>A (p.Thr413Asn) | gnomAD v4 |
| 11 | g.4138256C>G | CA379186832 | RRM1 | c.2252C>G (p.Thr751Ser) c.*2128C>G (n.*2128C>G) c.*1960C>G (n.*1960C>G) c.*1400C>G (n.*1400C>G) c.1586C>G (p.Thr529Ser) c.1961C>G (p.Thr654Ser) c.1238C>G (p.Thr413Ser) | gnomAD v4 |
| 11 | g.4138256C>T | CA379186833 | RRM1 | c.2252C>T (p.Thr751Ile) c.*2128C>T (n.*2128C>T) c.*1960C>T (n.*1960C>T) c.*1400C>T (n.*1400C>T) c.1586C>T (p.Thr529Ile) c.1961C>T (p.Thr654Ile) c.1238C>T (p.Thr413Ile) | |
| 11 | g.4138257T>A | CA472543044 | RRM1 | c.2253T>A (p.Thr751=) c.*2129T>A (n.*2129T>A) c.*1961T>A (n.*1961T>A) c.*1401T>A (n.*1401T>A) c.1587T>A (p.Thr529=) c.1962T>A (p.Thr654=) c.1239T>A (p.Thr413=) | |
| 11 | g.4138257T>C | CA472543045 | RRM1 | c.2253T>C (p.Thr751=) c.*2129T>C (n.*2129T>C) c.*1961T>C (n.*1961T>C) c.*1401T>C (n.*1401T>C) c.1587T>C (p.Thr529=) c.1962T>C (p.Thr654=) c.1239T>C (p.Thr413=) | |
| 11 | g.4138257T>G | CA472543046 | RRM1 | c.2253T>G (p.Thr751=) c.*2129T>G (n.*2129T>G) c.*1961T>G (n.*1961T>G) c.*1401T>G (n.*1401T>G) c.1587T>G (p.Thr529=) c.1962T>G (p.Thr654=) c.1239T>G (p.Thr413=) | |
| 11 | g.4138258C>A | CA379186834 | RRM1 | c.2254C>A (p.Leu752Ile) c.*2130C>A (n.*2130C>A) c.*1962C>A (n.*1962C>A) c.*1402C>A (n.*1402C>A) c.1588C>A (p.Leu530Ile) c.1963C>A (p.Leu655Ile) c.1240C>A (p.Leu414Ile) | dbSNP |
| 11 | g.4138258C>G | CA379186835 | RRM1 | c.2254C>G (p.Leu752Val) c.*2130C>G (n.*2130C>G) c.*1962C>G (n.*1962C>G) c.*1402C>G (n.*1402C>G) c.1588C>G (p.Leu530Val) c.1963C>G (p.Leu655Val) c.1240C>G (p.Leu414Val) | |
| 11 | g.4138258C>T | CA472543047 | RRM1 | c.2254C>T (p.Leu752=) c.*2130C>T (n.*2130C>T) c.*1962C>T (n.*1962C>T) c.*1402C>T (n.*1402C>T) c.1588C>T (p.Leu530=) c.1963C>T (p.Leu655=) c.1240C>T (p.Leu414=) | |
| 11 | g.4138259del | CA2574734095 | RRM1 | c.2255del (p.Leu752GlnfsTer6) c.*2131del (n.*2131del) c.*1963del (n.*1963del) c.*1403del (n.*1403del) c.1589del (p.Leu530GlnfsTer6) c.1964del (p.Leu655GlnfsTer6) c.1241del (p.Leu414GlnfsTer6) | |
| 11 | g.4138259T>A | CA379186837 | RRM1 | c.2255T>A (p.Leu752Gln) c.*2131T>A (n.*2131T>A) c.*1963T>A (n.*1963T>A) c.*1403T>A (n.*1403T>A) c.1589T>A (p.Leu530Gln) c.1964T>A (p.Leu655Gln) c.1241T>A (p.Leu414Gln) | |
| 11 | g.4138259T>C | CA379186838 | RRM1 | c.2255T>C (p.Leu752Pro) c.*2131T>C (n.*2131T>C) c.*1963T>C (n.*1963T>C) c.*1403T>C (n.*1403T>C) c.1589T>C (p.Leu530Pro) c.1964T>C (p.Leu655Pro) c.1241T>C (p.Leu414Pro) | |
| 11 | g.4138259T>G | CA379186836 | RRM1 | c.2255T>G (p.Leu752Arg) c.*2131T>G (n.*2131T>G) c.*1963T>G (n.*1963T>G) c.*1403T>G (n.*1403T>G) c.1589T>G (p.Leu530Arg) c.1964T>G (p.Leu655Arg) c.1241T>G (p.Leu414Arg) | |
| 11 | g.4138260A>C | CA472543048 | RRM1 | c.2256A>C (p.Leu752=) c.*2132A>C (n.*2132A>C) c.*1964A>C (n.*1964A>C) c.*1404A>C (n.*1404A>C) c.1590A>C (p.Leu530=) c.1965A>C (p.Leu655=) c.1242A>C (p.Leu414=) | |
| 11 | g.4138260A>G | CA472543049 | RRM1 | c.2256A>G (p.Leu752=) c.*2132A>G (n.*2132A>G) c.*1964A>G (n.*1964A>G) c.*1404A>G (n.*1404A>G) c.1590A>G (p.Leu530=) c.1965A>G (p.Leu655=) c.1242A>G (p.Leu414=) | gnomAD v4 |
| 11 | g.4138260A>T | CA472543050 | RRM1 | c.2256A>T (p.Leu752=) c.*2132A>T (n.*2132A>T) c.*1964A>T (n.*1964A>T) c.*1404A>T (n.*1404A>T) c.1590A>T (p.Leu530=) c.1965A>T (p.Leu655=) c.1242A>T (p.Leu414=) | |
| 11 | g.4138261A>C | CA379186839 | RRM1 | c.2257A>C (p.Asn753His) c.*2133A>C (n.*2133A>C) c.*1965A>C (n.*1965A>C) c.*1405A>C (n.*1405A>C) c.1591A>C (p.Asn531His) c.1966A>C (p.Asn656His) c.1243A>C (p.Asn415His) | |
| 11 | g.4138261A>G | CA379186840 | RRM1 | c.2257A>G (p.Asn753Asp) c.*2133A>G (n.*2133A>G) c.*1965A>G (n.*1965A>G) c.*1405A>G (n.*1405A>G) c.1591A>G (p.Asn531Asp) c.1966A>G (p.Asn656Asp) c.1243A>G (p.Asn415Asp) | |
| 11 | g.4138261A>T | CA379186841 | RRM1 | c.2257A>T (p.Asn753Tyr) c.*2133A>T (n.*2133A>T) c.*1965A>T (n.*1965A>T) c.*1405A>T (n.*1405A>T) c.1591A>T (p.Asn531Tyr) c.1966A>T (p.Asn656Tyr) c.1243A>T (p.Asn415Tyr) | |
| 11 | g.4138262A>C | CA379186842 | RRM1 | c.2258A>C (p.Asn753Thr) c.*2134A>C (n.*2134A>C) c.*1966A>C (n.*1966A>C) c.*1406A>C (n.*1406A>C) c.1592A>C (p.Asn531Thr) c.1967A>C (p.Asn656Thr) c.1244A>C (p.Asn415Thr) | |
| 11 | g.4138262A>G | CA379186843 | RRM1 | c.2258A>G (p.Asn753Ser) c.*2134A>G (n.*2134A>G) c.*1966A>G (n.*1966A>G) c.*1406A>G (n.*1406A>G) c.1592A>G (p.Asn531Ser) c.1967A>G (p.Asn656Ser) c.1244A>G (p.Asn415Ser) | |
| 11 | g.4138262A>T | CA379186844 | RRM1 | c.2258A>T (p.Asn753Ile) c.*2134A>T (n.*2134A>T) c.*1966A>T (n.*1966A>T) c.*1406A>T (n.*1406A>T) c.1592A>T (p.Asn531Ile) c.1967A>T (p.Asn656Ile) c.1244A>T (p.Asn415Ile) | |
| 11 | g.4138263T>A | CA379186845 | RRM1 | c.2259T>A (p.Asn753Lys) c.*2135T>A (n.*2135T>A) c.*1967T>A (n.*1967T>A) c.*1407T>A (n.*1407T>A) c.1593T>A (p.Asn531Lys) c.1968T>A (p.Asn656Lys) c.1245T>A (p.Asn415Lys) | |
| 11 | g.4138263T>C | CA472543051 | RRM1 | c.2259T>C (p.Asn753=) c.*2135T>C (n.*2135T>C) c.*1967T>C (n.*1967T>C) c.*1407T>C (n.*1407T>C) c.1593T>C (p.Asn531=) c.1968T>C (p.Asn656=) c.1245T>C (p.Asn415=) | |
| 11 | g.4138263T>G | CA379186846 | RRM1 | c.2259T>G (p.Asn753Lys) c.*2135T>G (n.*2135T>G) c.*1967T>G (n.*1967T>G) c.*1407T>G (n.*1407T>G) c.1593T>G (p.Asn531Lys) c.1968T>G (p.Asn656Lys) c.1245T>G (p.Asn415Lys) | |
| 11 | g.4138264A>C | CA379186847 | RRM1 | c.2260A>C (p.Lys754Gln) c.*2136A>C (n.*2136A>C) c.*1968A>C (n.*1968A>C) c.*1408A>C (n.*1408A>C) c.1594A>C (p.Lys532Gln) c.1969A>C (p.Lys657Gln) c.1246A>C (p.Lys416Gln) | |
| 11 | g.4138264A>G | CA379186848 | RRM1 | c.2260A>G (p.Lys754Glu) c.*2136A>G (n.*2136A>G) c.*1968A>G (n.*1968A>G) c.*1408A>G (n.*1408A>G) c.1594A>G (p.Lys532Glu) c.1969A>G (p.Lys657Glu) c.1246A>G (p.Lys416Glu) | |
| 11 | g.4138264A>T | CA379186849 | RRM1 | c.2260A>T (p.Lys754Ter) c.*2136A>T (n.*2136A>T) c.*1968A>T (n.*1968A>T) c.*1408A>T (n.*1408A>T) c.1594A>T (p.Lys532Ter) c.1969A>T (p.Lys657Ter) c.1246A>T (p.Lys416Ter) | |
| 11 | g.4138265A>C | CA379186850 | RRM1 | c.2261A>C (p.Lys754Thr) c.*2137A>C (n.*2137A>C) c.*1969A>C (n.*1969A>C) c.*1409A>C (n.*1409A>C) c.1595A>C (p.Lys532Thr) c.1970A>C (p.Lys657Thr) c.1247A>C (p.Lys416Thr) | ClinVar |
| 11 | g.4138265A>G | CA379186851 | RRM1 | c.2261A>G (p.Lys754Arg) c.*2137A>G (n.*2137A>G) c.*1969A>G (n.*1969A>G) c.*1409A>G (n.*1409A>G) c.1595A>G (p.Lys532Arg) c.1970A>G (p.Lys657Arg) c.1247A>G (p.Lys416Arg) | |
| 11 | g.4138265A>T | CA379186852 | RRM1 | c.2261A>T (p.Lys754Met) c.*2137A>T (n.*2137A>T) c.*1969A>T (n.*1969A>T) c.*1409A>T (n.*1409A>T) c.1595A>T (p.Lys532Met) c.1970A>T (p.Lys657Met) c.1247A>T (p.Lys416Met) | gnomAD v4 |
| 11 | g.4138266G>A | CA472543052 | RRM1 | c.2262G>A (p.Lys754=) c.*2138G>A (n.*2138G>A) c.*1970G>A (n.*1970G>A) c.*1410G>A (n.*1410G>A) c.1596G>A (p.Lys532=) c.1971G>A (p.Lys657=) c.1248G>A (p.Lys416=) | |
| 11 | g.4138266G>C | CA379186853 | RRM1 | c.2262G>C (p.Lys754Asn) c.*2138G>C (n.*2138G>C) c.*1970G>C (n.*1970G>C) c.*1410G>C (n.*1410G>C) c.1596G>C (p.Lys532Asn) c.1971G>C (p.Lys657Asn) c.1248G>C (p.Lys416Asn) | |
| 11 | g.4138266G>T | CA379186854 | RRM1 | c.2262G>T (p.Lys754Asn) c.*2138G>T (n.*2138G>T) c.*1970G>T (n.*1970G>T) c.*1410G>T (n.*1410G>T) c.1596G>T (p.Lys532Asn) c.1971G>T (p.Lys657Asn) c.1248G>T (p.Lys416Asn) | |
| 11 | g.4138267G>A | CA379186855 | RRM1 | c.2263G>A (p.Glu755Lys) c.*2139G>A (n.*2139G>A) c.*1971G>A (n.*1971G>A) c.*1411G>A (n.*1411G>A) c.1597G>A (p.Glu533Lys) c.1972G>A (p.Glu658Lys) c.1249G>A (p.Glu417Lys) | |
| 11 | g.4138267G>C | CA379186856 | RRM1 | c.2263G>C (p.Glu755Gln) c.*2139G>C (n.*2139G>C) c.*1971G>C (n.*1971G>C) c.*1411G>C (n.*1411G>C) c.1597G>C (p.Glu533Gln) c.1972G>C (p.Glu658Gln) c.1249G>C (p.Glu417Gln) | |
| 11 | g.4138267G>T | CA379186857 | RRM1 | c.2263G>T (p.Glu755Ter) c.*2139G>T (n.*2139G>T) c.*1971G>T (n.*1971G>T) c.*1411G>T (n.*1411G>T) c.1597G>T (p.Glu533Ter) c.1972G>T (p.Glu658Ter) c.1249G>T (p.Glu417Ter) | |
| 11 | g.4138268A= | CA1948963854 | RRM1 | c.2264A= (p.Glu755=) c.*2140A= (n.*2140A=) c.*1972A= (n.*1972A=) c.*1412A= (n.*1412A=) c.1598A= (p.Glu533=) c.1973A= (p.Glu658=) c.1250A= (p.Glu417=) | |
| 11 | g.4138268A>C | CA379186858 | RRM1 | c.2264A>C (p.Glu755Ala) c.*2140A>C (n.*2140A>C) c.*1972A>C (n.*1972A>C) c.*1412A>C (n.*1412A>C) c.1598A>C (p.Glu533Ala) c.1973A>C (p.Glu658Ala) c.1250A>C (p.Glu417Ala) | |
| 11 | g.4138268A>G | CA379186859 | RRM1 | c.2264A>G (p.Glu755Gly) c.*2140A>G (n.*2140A>G) c.*1972A>G (n.*1972A>G) c.*1412A>G (n.*1412A>G) c.1598A>G (p.Glu533Gly) c.1973A>G (p.Glu658Gly) c.1250A>G (p.Glu417Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.4138268A>T | CA379186860 | RRM1 | c.2264A>T (p.Glu755Val) c.*2140A>T (n.*2140A>T) c.*1972A>T (n.*1972A>T) c.*1412A>T (n.*1412A>T) c.1598A>T (p.Glu533Val) c.1973A>T (p.Glu658Val) c.1250A>T (p.Glu417Val) | |
| 11 | g.4138269G>A | CA472543053 | RRM1 | c.2265G>A (p.Glu755=) c.*2141G>A (n.*2141G>A) c.*1973G>A (n.*1973G>A) c.*1413G>A (n.*1413G>A) c.1599G>A (p.Glu533=) c.1974G>A (p.Glu658=) c.1251G>A (p.Glu417=) | |
| 11 | g.4138269G>C | CA379186861 | RRM1 | c.2265G>C (p.Glu755Asp) c.*2141G>C (n.*2141G>C) c.*1973G>C (n.*1973G>C) c.*1413G>C (n.*1413G>C) c.1599G>C (p.Glu533Asp) c.1974G>C (p.Glu658Asp) c.1251G>C (p.Glu417Asp) | |
| 11 | g.4138269G>T | CA379186862 | RRM1 | c.2265G>T (p.Glu755Asp) c.*2141G>T (n.*2141G>T) c.*1973G>T (n.*1973G>T) c.*1413G>T (n.*1413G>T) c.1599G>T (p.Glu533Asp) c.1974G>T (p.Glu658Asp) c.1251G>T (p.Glu417Asp) | |
| 11 | g.4138270A>C | CA379186863 | RRM1 | c.2266A>C (p.Lys756Gln) c.*2142A>C (n.*2142A>C) c.*1974A>C (n.*1974A>C) c.*1414A>C (n.*1414A>C) c.1600A>C (p.Lys534Gln) c.1975A>C (p.Lys659Gln) c.1252A>C (p.Lys418Gln) | dbSNP |
| 11 | g.4138270A>G | CA379186864 | RRM1 | c.2266A>G (p.Lys756Glu) c.*2142A>G (n.*2142A>G) c.*1974A>G (n.*1974A>G) c.*1414A>G (n.*1414A>G) c.1600A>G (p.Lys534Glu) c.1975A>G (p.Lys659Glu) c.1252A>G (p.Lys418Glu) | |
| 11 | g.4138270A>T | CA379186865 | RRM1 | c.2266A>T (p.Lys756Ter) c.*2142A>T (n.*2142A>T) c.*1974A>T (n.*1974A>T) c.*1414A>T (n.*1414A>T) c.1600A>T (p.Lys534Ter) c.1975A>T (p.Lys659Ter) c.1252A>T (p.Lys418Ter) | |
| 11 | g.4138271A>C | CA379186866 | RRM1 | c.2267A>C (p.Lys756Thr) c.*2143A>C (n.*2143A>C) c.*1975A>C (n.*1975A>C) c.*1415A>C (n.*1415A>C) c.1601A>C (p.Lys534Thr) c.1976A>C (p.Lys659Thr) c.1253A>C (p.Lys418Thr) | |
| 11 | g.4138271A>G | CA379186868 | RRM1 | c.2267A>G (p.Lys756Arg) c.*2143A>G (n.*2143A>G) c.*1975A>G (n.*1975A>G) c.*1415A>G (n.*1415A>G) c.1601A>G (p.Lys534Arg) c.1976A>G (p.Lys659Arg) c.1253A>G (p.Lys418Arg) | |
| 11 | g.4138271A>T | CA379186870 | RRM1 | c.2267A>T (p.Lys756Met) c.*2143A>T (n.*2143A>T) c.*1975A>T (n.*1975A>T) c.*1415A>T (n.*1415A>T) c.1601A>T (p.Lys534Met) c.1976A>T (p.Lys659Met) c.1253A>T (p.Lys418Met) | |
| 11 | g.4138272G>A | CA472543054 | RRM1 | c.2268G>A (p.Lys756=) c.*2144G>A (n.*2144G>A) c.*1976G>A (n.*1976G>A) c.*1416G>A (n.*1416G>A) c.1602G>A (p.Lys534=) c.1977G>A (p.Lys659=) c.1254G>A (p.Lys418=) | gnomAD v4 |
| 11 | g.4138272G>C | CA379186872 | RRM1 | c.2268G>C (p.Lys756Asn) c.*2144G>C (n.*2144G>C) c.*1976G>C (n.*1976G>C) c.*1416G>C (n.*1416G>C) c.1602G>C (p.Lys534Asn) c.1977G>C (p.Lys659Asn) c.1254G>C (p.Lys418Asn) | |
| 11 | g.4138272G>T | CA379186874 | RRM1 | c.2268G>T (p.Lys756Asn) c.*2144G>T (n.*2144G>T) c.*1976G>T (n.*1976G>T) c.*1416G>T (n.*1416G>T) c.1602G>T (p.Lys534Asn) c.1977G>T (p.Lys659Asn) c.1254G>T (p.Lys418Asn) | |
| 11 | g.4138273C>A | CA379186877 | RRM1 | c.2269C>A (p.Leu757Ile) c.*2145C>A (n.*2145C>A) c.*1977C>A (n.*1977C>A) c.*1417C>A (n.*1417C>A) c.1603C>A (p.Leu535Ile) c.1978C>A (p.Leu660Ile) c.1255C>A (p.Leu419Ile) | gnomAD v4 COSMIC |
| 11 | g.4138273C>G | CA379186880 | RRM1 | c.2269C>G (p.Leu757Val) c.*2145C>G (n.*2145C>G) c.*1977C>G (n.*1977C>G) c.*1417C>G (n.*1417C>G) c.1603C>G (p.Leu535Val) c.1978C>G (p.Leu660Val) c.1255C>G (p.Leu419Val) | |
| 11 | g.4138273C>T | CA472543055 | RRM1 | c.2269C>T (p.Leu757=) c.*2145C>T (n.*2145C>T) c.*1977C>T (n.*1977C>T) c.*1417C>T (n.*1417C>T) c.1603C>T (p.Leu535=) c.1978C>T (p.Leu660=) c.1255C>T (p.Leu419=) | |
| 11 | g.4138274T>A | CA379186883 | RRM1 | c.2270T>A (p.Leu757Gln) c.*2146T>A (n.*2146T>A) c.*1978T>A (n.*1978T>A) c.*1418T>A (n.*1418T>A) c.1604T>A (p.Leu535Gln) c.1979T>A (p.Leu660Gln) c.1256T>A (p.Leu419Gln) | |
| 11 | g.4138274T>C | CA379186885 | RRM1 | c.2270T>C (p.Leu757Pro) c.*2146T>C (n.*2146T>C) c.*1978T>C (n.*1978T>C) c.*1418T>C (n.*1418T>C) c.1604T>C (p.Leu535Pro) c.1979T>C (p.Leu660Pro) c.1256T>C (p.Leu419Pro) | |
| 11 | g.4138274T>G | CA379186887 | RRM1 | c.2270T>G (p.Leu757Arg) c.*2146T>G (n.*2146T>G) c.*1978T>G (n.*1978T>G) c.*1418T>G (n.*1418T>G) c.1604T>G (p.Leu535Arg) c.1979T>G (p.Leu660Arg) c.1256T>G (p.Leu419Arg) | gnomAD v4 |
| 11 | g.4138275A= | CA1948963859 | RRM1 | c.2271A= (p.Leu757=) c.*2147A= (n.*2147A=) c.*1979A= (n.*1979A=) c.*1419A= (n.*1419A=) c.1605A= (p.Leu535=) c.1980A= (p.Leu660=) c.1257A= (p.Leu419=) | |
| 11 | g.4138275A>C | CA472543056 | RRM1 | c.2271A>C (p.Leu757=) c.*2147A>C (n.*2147A>C) c.*1979A>C (n.*1979A>C) c.*1419A>C (n.*1419A>C) c.1605A>C (p.Leu535=) c.1980A>C (p.Leu660=) c.1257A>C (p.Leu419=) | gnomAD v4 |
| 11 | g.4138275A>G | CA472543057 | RRM1 | c.2271A>G (p.Leu757=) c.*2147A>G (n.*2147A>G) c.*1979A>G (n.*1979A>G) c.*1419A>G (n.*1419A>G) c.1605A>G (p.Leu535=) c.1980A>G (p.Leu660=) c.1257A>G (p.Leu419=) | dbSNP gnomAD v2 |
| 11 | g.4138275A>T | CA472543058 | RRM1 | c.2271A>T (p.Leu757=) c.*2147A>T (n.*2147A>T) c.*1979A>T (n.*1979A>T) c.*1419A>T (n.*1419A>T) c.1605A>T (p.Leu535=) c.1980A>T (p.Leu660=) c.1257A>T (p.Leu419=) | |
| 11 | g.4138276A>C | CA379186890 | RRM1 | c.2272A>C (p.Lys758Gln) c.*2148A>C (n.*2148A>C) c.*1980A>C (n.*1980A>C) c.*1420A>C (n.*1420A>C) c.1606A>C (p.Lys536Gln) c.1981A>C (p.Lys661Gln) c.1258A>C (p.Lys420Gln) | |
| 11 | g.4138276A>G | CA379186892 | RRM1 | c.2272A>G (p.Lys758Glu) c.*2148A>G (n.*2148A>G) c.*1980A>G (n.*1980A>G) c.*1420A>G (n.*1420A>G) c.1606A>G (p.Lys536Glu) c.1981A>G (p.Lys661Glu) c.1258A>G (p.Lys420Glu) | |
| 11 | g.4138276A>T | CA379186894 | RRM1 | c.2272A>T (p.Lys758Ter) c.*2148A>T (n.*2148A>T) c.*1980A>T (n.*1980A>T) c.*1420A>T (n.*1420A>T) c.1606A>T (p.Lys536Ter) c.1981A>T (p.Lys661Ter) c.1258A>T (p.Lys420Ter) | |
| 11 | g.4138281_4138286del | CA2574734096 | RRM1 | c.2277_2282del (p.Asp759_Lys760del) c.*2153_*2158del (n.*2153_*2158del) c.*1985_*1990del (n.*1985_*1990del) c.*1425_*1430del (n.*1425_*1430del) c.1611_1616del (p.Asp537_Lys538del) c.1986_1991del (p.Asp662_Lys663del) c.1263_1268del (p.Asp421_Lys422del) | |
| 11 | g.4138277A>C | CA379186896 | RRM1 | c.2273A>C (p.Lys758Thr) c.*2149A>C (n.*2149A>C) c.*1981A>C (n.*1981A>C) c.*1421A>C (n.*1421A>C) c.1607A>C (p.Lys536Thr) c.1982A>C (p.Lys661Thr) c.1259A>C (p.Lys420Thr) | |
| 11 | g.4138277A>G | CA379186897 | RRM1 | c.2273A>G (p.Lys758Arg) c.*2149A>G (n.*2149A>G) c.*1981A>G (n.*1981A>G) c.*1421A>G (n.*1421A>G) c.1607A>G (p.Lys536Arg) c.1982A>G (p.Lys661Arg) c.1259A>G (p.Lys420Arg) | |
| 11 | g.4138277A>T | CA379186898 | RRM1 | c.2273A>T (p.Lys758Ile) c.*2149A>T (n.*2149A>T) c.*1981A>T (n.*1981A>T) c.*1421A>T (n.*1421A>T) c.1607A>T (p.Lys536Ile) c.1982A>T (p.Lys661Ile) c.1259A>T (p.Lys420Ile) | |
| 11 | g.4138278A= | CA1948963868 | RRM1 | c.2274A= (p.Lys758=) c.*2150A= (n.*2150A=) c.*1982A= (n.*1982A=) c.*1422A= (n.*1422A=) c.1608A= (p.Lys536=) c.1983A= (p.Lys661=) c.1260A= (p.Lys420=) | |
| 11 | g.4138278A>C | CA379186899 | RRM1 | c.2274A>C (p.Lys758Asn) c.*2150A>C (n.*2150A>C) c.*1982A>C (n.*1982A>C) c.*1422A>C (n.*1422A>C) c.1608A>C (p.Lys536Asn) c.1983A>C (p.Lys661Asn) c.1260A>C (p.Lys420Asn) | |
| 11 | g.4138278A>G | CA472543060 | RRM1 | c.2274A>G (p.Lys758=) c.*2150A>G (n.*2150A>G) c.*1982A>G (n.*1982A>G) c.*1422A>G (n.*1422A>G) c.1608A>G (p.Lys536=) c.1983A>G (p.Lys661=) c.1260A>G (p.Lys420=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.4138278A>T | CA379186902 | RRM1 | c.2274A>T (p.Lys758Asn) c.*2150A>T (n.*2150A>T) c.*1982A>T (n.*1982A>T) c.*1422A>T (n.*1422A>T) c.1608A>T (p.Lys536Asn) c.1983A>T (p.Lys661Asn) c.1260A>T (p.Lys420Asn) | gnomAD v4 |
| 11 | g.4138279G>A | CA379186909 | RRM1 | c.2275G>A (p.Asp759Asn) c.*2151G>A (n.*2151G>A) c.*1983G>A (n.*1983G>A) c.*1423G>A (n.*1423G>A) c.1609G>A (p.Asp537Asn) c.1984G>A (p.Asp662Asn) c.1261G>A (p.Asp421Asn) | gnomAD v4 |
| 11 | g.4138279G>C | CA379186907 | RRM1 | c.2275G>C (p.Asp759His) c.*2151G>C (n.*2151G>C) c.*1983G>C (n.*1983G>C) c.*1423G>C (n.*1423G>C) c.1609G>C (p.Asp537His) c.1984G>C (p.Asp662His) c.1261G>C (p.Asp421His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.4138279G= | CA1948963871 | RRM1 | c.2275G= (p.Asp759=) c.*2151G= (n.*2151G=) c.*1983G= (n.*1983G=) c.*1423G= (n.*1423G=) c.1609G= (p.Asp537=) c.1984G= (p.Asp662=) c.1261G= (p.Asp421=) | |
| 11 | g.4138279G>T | CA379186905 | RRM1 | c.2275G>T (p.Asp759Tyr) c.*2151G>T (n.*2151G>T) c.*1983G>T (n.*1983G>T) c.*1423G>T (n.*1423G>T) c.1609G>T (p.Asp537Tyr) c.1984G>T (p.Asp662Tyr) c.1261G>T (p.Asp421Tyr) | gnomAD v4 |
| 11 | g.4138280A= | CA1948963876 | RRM1 | c.2276A= (p.Asp759=) c.*2152A= (n.*2152A=) c.*1984A= (n.*1984A=) c.*1424A= (n.*1424A=) c.1610A= (p.Asp537=) c.1985A= (p.Asp662=) c.1262A= (p.Asp421=) | |
| 11 | g.4138280A>C | CA379186912 | RRM1 | c.2276A>C (p.Asp759Ala) c.*2152A>C (n.*2152A>C) c.*1984A>C (n.*1984A>C) c.*1424A>C (n.*1424A>C) c.1610A>C (p.Asp537Ala) c.1985A>C (p.Asp662Ala) c.1262A>C (p.Asp421Ala) | |
| 11 | g.4138280A>G | CA379186913 | RRM1 | c.2276A>G (p.Asp759Gly) c.*2152A>G (n.*2152A>G) c.*1984A>G (n.*1984A>G) c.*1424A>G (n.*1424A>G) c.1610A>G (p.Asp537Gly) c.1985A>G (p.Asp662Gly) c.1262A>G (p.Asp421Gly) | dbSNP gnomAD v4 |
| 11 | g.4138280A>T | CA379186916 | RRM1 | c.2276A>T (p.Asp759Val) c.*2152A>T (n.*2152A>T) c.*1984A>T (n.*1984A>T) c.*1424A>T (n.*1424A>T) c.1610A>T (p.Asp537Val) c.1985A>T (p.Asp662Val) c.1262A>T (p.Asp421Val) | |
| 11 | g.4138281T>A | CA379186919 | RRM1 | c.2277T>A (p.Asp759Glu) c.*2153T>A (n.*2153T>A) c.*1985T>A (n.*1985T>A) c.*1425T>A (n.*1425T>A) c.1611T>A (p.Asp537Glu) c.1986T>A (p.Asp662Glu) c.1263T>A (p.Asp421Glu) | |
| 11 | g.4138281T>C | CA5831199 | RRM1 | c.2277T>C (p.Asp759=) c.*2153T>C (n.*2153T>C) c.*1985T>C (n.*1985T>C) c.*1425T>C (n.*1425T>C) c.1611T>C (p.Asp537=) c.1986T>C (p.Asp662=) c.1263T>C (p.Asp421=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.4138281T>G | CA379186923 | RRM1 | c.2277T>G (p.Asp759Glu) c.*2153T>G (n.*2153T>G) c.*1985T>G (n.*1985T>G) c.*1425T>G (n.*1425T>G) c.1611T>G (p.Asp537Glu) c.1986T>G (p.Asp662Glu) c.1263T>G (p.Asp421Glu) | gnomAD v4 |
| 11 | g.4138281T= | CA1948963878 | RRM1 | c.2277T= (p.Asp759=) c.*2153T= (n.*2153T=) c.*1985T= (n.*1985T=) c.*1425T= (n.*1425T=) c.1611T= (p.Asp537=) c.1986T= (p.Asp662=) c.1263T= (p.Asp421=) | |
| 11 | g.4138282A>C | CA379186926 | RRM1 | c.2278A>C (p.Lys760Gln) c.*2154A>C (n.*2154A>C) c.*1986A>C (n.*1986A>C) c.*1426A>C (n.*1426A>C) c.1612A>C (p.Lys538Gln) c.1987A>C (p.Lys663Gln) c.1264A>C (p.Lys422Gln) | |
| 11 | g.4138282A>G | CA379186928 | RRM1 | c.2278A>G (p.Lys760Glu) c.*2154A>G (n.*2154A>G) c.*1986A>G (n.*1986A>G) c.*1426A>G (n.*1426A>G) c.1612A>G (p.Lys538Glu) c.1987A>G (p.Lys663Glu) c.1264A>G (p.Lys422Glu) | gnomAD v4 |
| 11 | g.4138282A>T | CA379186929 | RRM1 | c.2278A>T (p.Lys760Ter) c.*2154A>T (n.*2154A>T) c.*1986A>T (n.*1986A>T) c.*1426A>T (n.*1426A>T) c.1612A>T (p.Lys538Ter) c.1987A>T (p.Lys663Ter) c.1264A>T (p.Lys422Ter) | |
| 11 | g.4138283A>C | CA379186932 | RRM1 | c.2279A>C (p.Lys760Thr) c.*2155A>C (n.*2155A>C) c.*1987A>C (n.*1987A>C) c.*1427A>C (n.*1427A>C) c.1613A>C (p.Lys538Thr) c.1988A>C (p.Lys663Thr) c.1265A>C (p.Lys422Thr) | |
| 11 | g.4138283A>G | CA379186934 | RRM1 | c.2279A>G (p.Lys760Arg) c.*2155A>G (n.*2155A>G) c.*1987A>G (n.*1987A>G) c.*1427A>G (n.*1427A>G) c.1613A>G (p.Lys538Arg) c.1988A>G (p.Lys663Arg) c.1265A>G (p.Lys422Arg) | |
| 11 | g.4138283A>T | CA379186937 | RRM1 | c.2279A>T (p.Lys760Ile) c.*2155A>T (n.*2155A>T) c.*1987A>T (n.*1987A>T) c.*1427A>T (n.*1427A>T) c.1613A>T (p.Lys538Ile) c.1988A>T (p.Lys663Ile) c.1265A>T (p.Lys422Ile) | |
| 11 | g.4138284A>C | CA379186939 | RRM1 | c.2280A>C (p.Lys760Asn) c.*2156A>C (n.*2156A>C) c.*1988A>C (n.*1988A>C) c.*1428A>C (n.*1428A>C) c.1614A>C (p.Lys538Asn) c.1989A>C (p.Lys663Asn) c.1266A>C (p.Lys422Asn) | gnomAD v4 |
| 11 | g.4138284A>G | CA472543061 | RRM1 | c.2280A>G (p.Lys760=) c.*2156A>G (n.*2156A>G) c.*1988A>G (n.*1988A>G) c.*1428A>G (n.*1428A>G) c.1614A>G (p.Lys538=) c.1989A>G (p.Lys663=) c.1266A>G (p.Lys422=) | |
| 11 | g.4138284A>T | CA379186941 | RRM1 | c.2280A>T (p.Lys760Asn) c.*2156A>T (n.*2156A>T) c.*1988A>T (n.*1988A>T) c.*1428A>T (n.*1428A>T) c.1614A>T (p.Lys538Asn) c.1989A>T (p.Lys663Asn) c.1266A>T (p.Lys422Asn) | |
| 11 | g.4138285G>A | CA379186947 | RRM1 | c.2281G>A (p.Glu761Lys) c.*2157G>A (n.*2157G>A) c.*1989G>A (n.*1989G>A) c.*1429G>A (n.*1429G>A) c.1615G>A (p.Glu539Lys) c.1990G>A (p.Glu664Lys) c.1267G>A (p.Glu423Lys) | |
| 11 | g.4138285G>C | CA379186946 | RRM1 | c.2281G>C (p.Glu761Gln) c.*2157G>C (n.*2157G>C) c.*1989G>C (n.*1989G>C) c.*1429G>C (n.*1429G>C) c.1615G>C (p.Glu539Gln) c.1990G>C (p.Glu664Gln) c.1267G>C (p.Glu423Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.4138285G= | CA1948963880 | RRM1 | c.2281G= (p.Glu761=) c.*2157G= (n.*2157G=) c.*1989G= (n.*1989G=) c.*1429G= (n.*1429G=) c.1615G= (p.Glu539=) c.1990G= (p.Glu664=) c.1267G= (p.Glu423=) | |
| 11 | g.4138285G>T | CA379186944 | RRM1 | c.2281G>T (p.Glu761Ter) c.*2157G>T (n.*2157G>T) c.*1989G>T (n.*1989G>T) c.*1429G>T (n.*1429G>T) c.1615G>T (p.Glu539Ter) c.1990G>T (p.Glu664Ter) c.1267G>T (p.Glu423Ter) | |
| 11 | g.4138286A>C | CA379186948 | RRM1 | c.2282A>C (p.Glu761Ala) c.*2158A>C (n.*2158A>C) c.*1990A>C (n.*1990A>C) c.*1430A>C (n.*1430A>C) c.1616A>C (p.Glu539Ala) c.1991A>C (p.Glu664Ala) c.1268A>C (p.Glu423Ala) | |
| 11 | g.4138286A>G | CA379186950 | RRM1 | c.2282A>G (p.Glu761Gly) c.*2158A>G (n.*2158A>G) c.*1990A>G (n.*1990A>G) c.*1430A>G (n.*1430A>G) c.1616A>G (p.Glu539Gly) c.1991A>G (p.Glu664Gly) c.1268A>G (p.Glu423Gly) | |
| 11 | g.4138286A>T | CA379186952 | RRM1 | c.2282A>T (p.Glu761Val) c.*2158A>T (n.*2158A>T) c.*1990A>T (n.*1990A>T) c.*1430A>T (n.*1430A>T) c.1616A>T (p.Glu539Val) c.1991A>T (p.Glu664Val) c.1268A>T (p.Glu423Val) | |
| 11 | g.4138287A>C | CA379186954 | RRM1 | c.2283A>C (p.Glu761Asp) c.*2159A>C (n.*2159A>C) c.*1991A>C (n.*1991A>C) c.*1431A>C (n.*1431A>C) c.1617A>C (p.Glu539Asp) c.1992A>C (p.Glu664Asp) c.1269A>C (p.Glu423Asp) | |
| 11 | g.4138287A>G | CA472543062 | RRM1 | c.2283A>G (p.Glu761=) c.*2159A>G (n.*2159A>G) c.*1991A>G (n.*1991A>G) c.*1431A>G (n.*1431A>G) c.1617A>G (p.Glu539=) c.1992A>G (p.Glu664=) c.1269A>G (p.Glu423=) | |
| 11 | g.4138287A>T | CA379186956 | RRM1 | c.2283A>T (p.Glu761Asp) c.*2159A>T (n.*2159A>T) c.*1991A>T (n.*1991A>T) c.*1431A>T (n.*1431A>T) c.1617A>T (p.Glu539Asp) c.1992A>T (p.Glu664Asp) c.1269A>T (p.Glu423Asp) | |
| 11 | g.4138288A>C | CA379186959 | RRM1 | c.2284A>C (p.Lys762Gln) c.*2160A>C (n.*2160A>C) c.*1992A>C (n.*1992A>C) c.*1432A>C (n.*1432A>C) c.1618A>C (p.Lys540Gln) c.1993A>C (p.Lys665Gln) c.1270A>C (p.Lys424Gln) | |
| 11 | g.4138288A>G | CA379186960 | RRM1 | c.2284A>G (p.Lys762Glu) c.*2160A>G (n.*2160A>G) c.*1992A>G (n.*1992A>G) c.*1432A>G (n.*1432A>G) c.1618A>G (p.Lys540Glu) c.1993A>G (p.Lys665Glu) c.1270A>G (p.Lys424Glu) | |
| 11 | g.4138288A>T | CA379186963 | RRM1 | c.2284A>T (p.Lys762Ter) c.*2160A>T (n.*2160A>T) c.*1992A>T (n.*1992A>T) c.*1432A>T (n.*1432A>T) c.1618A>T (p.Lys540Ter) c.1993A>T (p.Lys665Ter) c.1270A>T (p.Lys424Ter) | |
| 11 | g.4138289A>C | CA379186965 | RRM1 | c.2285A>C (p.Lys762Thr) c.*2161A>C (n.*2161A>C) c.*1993A>C (n.*1993A>C) c.*1433A>C (n.*1433A>C) c.1619A>C (p.Lys540Thr) c.1994A>C (p.Lys665Thr) c.1271A>C (p.Lys424Thr) | |
| 11 | g.4138289A>G | CA379186967 | RRM1 | c.2285A>G (p.Lys762Arg) c.*2161A>G (n.*2161A>G) c.*1993A>G (n.*1993A>G) c.*1433A>G (n.*1433A>G) c.1619A>G (p.Lys540Arg) c.1994A>G (p.Lys665Arg) c.1271A>G (p.Lys424Arg) | |
| 11 | g.4138289A>T | CA379186968 | RRM1 | c.2285A>T (p.Lys762Met) c.*2161A>T (n.*2161A>T) c.*1993A>T (n.*1993A>T) c.*1433A>T (n.*1433A>T) c.1619A>T (p.Lys540Met) c.1994A>T (p.Lys665Met) c.1271A>T (p.Lys424Met) | |
| 11 | g.4138290G>A | CA472543063 | RRM1 | c.2286G>A (p.Lys762=) c.*2162G>A (n.*2162G>A) c.*1994G>A (n.*1994G>A) c.*1434G>A (n.*1434G>A) c.1620G>A (p.Lys540=) c.1995G>A (p.Lys665=) c.1272G>A (p.Lys424=) | |
| 11 | g.4138290G>C | CA379186970 | RRM1 | c.2286G>C (p.Lys762Asn) c.*2162G>C (n.*2162G>C) c.*1994G>C (n.*1994G>C) c.*1434G>C (n.*1434G>C) c.1620G>C (p.Lys540Asn) c.1995G>C (p.Lys665Asn) c.1272G>C (p.Lys424Asn) | |
| 11 | g.4138290G>T | CA379186972 | RRM1 | c.2286G>T (p.Lys762Asn) c.*2162G>T (n.*2162G>T) c.*1994G>T (n.*1994G>T) c.*1434G>T (n.*1434G>T) c.1620G>T (p.Lys540Asn) c.1995G>T (p.Lys665Asn) c.1272G>T (p.Lys424Asn) | |
| 11 | g.4138291G>A | CA379186983 | RRM1 | c.2287G>A (p.Val763Ile) c.*2163G>A (n.*2163G>A) c.*1995G>A (n.*1995G>A) c.*1435G>A (n.*1435G>A) c.1621G>A (p.Val541Ile) c.1996G>A (p.Val666Ile) c.1273G>A (p.Val425Ile) | COSMIC |
| 11 | g.4138291G>C | CA379186976 | RRM1 | c.2287G>C (p.Val763Leu) c.*2163G>C (n.*2163G>C) c.*1995G>C (n.*1995G>C) c.*1435G>C (n.*1435G>C) c.1621G>C (p.Val541Leu) c.1996G>C (p.Val666Leu) c.1273G>C (p.Val425Leu) | |
| 11 | g.4138291G= | CA1948963883 | RRM1 | c.2287G= (p.Val763=) c.*2163G= (n.*2163G=) c.*1995G= (n.*1995G=) c.*1435G= (n.*1435G=) c.1621G= (p.Val541=) c.1996G= (p.Val666=) c.1273G= (p.Val425=) | |
| 11 | g.4138291G>T | CA216529050 | RRM1 | c.2287G>T (p.Val763Leu) c.*2163G>T (n.*2163G>T) c.*1995G>T (n.*1995G>T) c.*1435G>T (n.*1435G>T) c.1621G>T (p.Val541Leu) c.1996G>T (p.Val666Leu) c.1273G>T (p.Val425Leu) | dbSNP gnomAD v4 |
| 11 | g.4138292T>A | CA379186987 | RRM1 | c.2288T>A (p.Val763Glu) c.*2164T>A (n.*2164T>A) c.*1996T>A (n.*1996T>A) c.*1436T>A (n.*1436T>A) c.1622T>A (p.Val541Glu) c.1997T>A (p.Val666Glu) c.1274T>A (p.Val425Glu) | |
| 11 | g.4138292T>C | CA379186989 | RRM1 | c.2288T>C (p.Val763Ala) c.*2164T>C (n.*2164T>C) c.*1996T>C (n.*1996T>C) c.*1436T>C (n.*1436T>C) c.1622T>C (p.Val541Ala) c.1997T>C (p.Val666Ala) c.1274T>C (p.Val425Ala) | gnomAD v4 COSMIC |
| 11 | g.4138292T>G | CA379186991 | RRM1 | c.2288T>G (p.Val763Gly) c.*2164T>G (n.*2164T>G) c.*1996T>G (n.*1996T>G) c.*1436T>G (n.*1436T>G) c.1622T>G (p.Val541Gly) c.1997T>G (p.Val666Gly) c.1274T>G (p.Val425Gly) | |
| 11 | g.4138293A= | CA1948963886 | RRM1 | c.2289A= (p.Val763=) c.*2165A= (n.*2165A=) c.*1997A= (n.*1997A=) c.*1437A= (n.*1437A=) c.1623A= (p.Val541=) c.1998A= (p.Val666=) c.1275A= (p.Val425=) | |
| 11 | g.4138293A>C | CA472543065 | RRM1 | c.2289A>C (p.Val763=) c.*2165A>C (n.*2165A>C) c.*1997A>C (n.*1997A>C) c.*1437A>C (n.*1437A>C) c.1623A>C (p.Val541=) c.1998A>C (p.Val666=) c.1275A>C (p.Val425=) | |
| 11 | g.4138293A>G | CA472543064 | RRM1 | c.2289A>G (p.Val763=) c.*2165A>G (n.*2165A>G) c.*1997A>G (n.*1997A>G) c.*1437A>G (n.*1437A>G) c.1623A>G (p.Val541=) c.1998A>G (p.Val666=) c.1275A>G (p.Val425=) | dbSNP |
| 11 | g.4138293A>T | CA216529056 | RRM1 | c.2289A>T (p.Val763=) c.*2165A>T (n.*2165A>T) c.*1997A>T (n.*1997A>T) c.*1437A>T (n.*1437A>T) c.1623A>T (p.Val541=) c.1998A>T (p.Val666=) c.1275A>T (p.Val425=) | dbSNP |
| 11 | g.4138294T>A | CA379186993 | RRM1 | c.2290T>A (p.Ser764Thr) c.*2166T>A (n.*2166T>A) c.*1998T>A (n.*1998T>A) c.*1438T>A (n.*1438T>A) c.1624T>A (p.Ser542Thr) c.1999T>A (p.Ser667Thr) c.1276T>A (p.Ser426Thr) | |
| 11 | g.4138294T>C | CA379186995 | RRM1 | c.2290T>C (p.Ser764Pro) c.*2166T>C (n.*2166T>C) c.*1998T>C (n.*1998T>C) c.*1438T>C (n.*1438T>C) c.1624T>C (p.Ser542Pro) c.1999T>C (p.Ser667Pro) c.1276T>C (p.Ser426Pro) | |
| 11 | g.4138294T>G | CA379186997 | RRM1 | c.2290T>G (p.Ser764Ala) c.*2166T>G (n.*2166T>G) c.*1998T>G (n.*1998T>G) c.*1438T>G (n.*1438T>G) c.1624T>G (p.Ser542Ala) c.1999T>G (p.Ser667Ala) c.1276T>G (p.Ser426Ala) | |
| 11 | g.4138295C>A | CA379187000 | RRM1 | c.2291C>A (p.Ser764Ter) c.*2167C>A (n.*2167C>A) c.*1999C>A (n.*1999C>A) c.*1439C>A (n.*1439C>A) c.1625C>A (p.Ser542Ter) c.2000C>A (p.Ser667Ter) c.1277C>A (p.Ser426Ter) | |
| 11 | g.4138295C>G | CA379187002 | RRM1 | c.2291C>G (p.Ser764Ter) c.*2167C>G (n.*2167C>G) c.*1999C>G (n.*1999C>G) c.*1439C>G (n.*1439C>G) c.1625C>G (p.Ser542Ter) c.2000C>G (p.Ser667Ter) c.1277C>G (p.Ser426Ter) | COSMIC |
| 11 | g.4138295C>T | CA379187004 | RRM1 | c.2291C>T (p.Ser764Leu) c.*2167C>T (n.*2167C>T) c.*1999C>T (n.*1999C>T) c.*1439C>T (n.*1439C>T) c.1625C>T (p.Ser542Leu) c.2000C>T (p.Ser667Leu) c.1277C>T (p.Ser426Leu) | |
| 11 | g.4138296A= | CA1948963893 | RRM1 | c.2292A= (p.Ser764=) c.*2168A= (n.*2168A=) c.*2000A= (n.*2000A=) c.*1440A= (n.*1440A=) c.1626A= (p.Ser542=) c.2001A= (p.Ser667=) c.1278A= (p.Ser426=) | |
| 11 | g.4138296A>C | CA472543066 | RRM1 | c.2292A>C (p.Ser764=) c.*2168A>C (n.*2168A>C) c.*2000A>C (n.*2000A>C) c.*1440A>C (n.*1440A>C) c.1626A>C (p.Ser542=) c.2001A>C (p.Ser667=) c.1278A>C (p.Ser426=) | |
| 11 | g.4138296A>G | CA5831200 | RRM1 | c.2292A>G (p.Ser764=) c.*2168A>G (n.*2168A>G) c.*2000A>G (n.*2000A>G) c.*1440A>G (n.*1440A>G) c.1626A>G (p.Ser542=) c.2001A>G (p.Ser667=) c.1278A>G (p.Ser426=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.4138296A>T | CA472543067 | RRM1 | c.2292A>T (p.Ser764=) c.*2168A>T (n.*2168A>T) c.*2000A>T (n.*2000A>T) c.*1440A>T (n.*1440A>T) c.1626A>T (p.Ser542=) c.2001A>T (p.Ser667=) c.1278A>T (p.Ser426=) | |
| 11 | g.4138297A>C | CA379187008 | RRM1 | c.2293A>C (p.Lys765Gln) c.*2169A>C (n.*2169A>C) c.*2001A>C (n.*2001A>C) c.*1441A>C (n.*1441A>C) c.1627A>C (p.Lys543Gln) c.2002A>C (p.Lys668Gln) c.1279A>C (p.Lys427Gln) | |
| 11 | g.4138297A>G | CA379187010 | RRM1 | c.2293A>G (p.Lys765Glu) c.*2169A>G (n.*2169A>G) c.*2001A>G (n.*2001A>G) c.*1441A>G (n.*1441A>G) c.1627A>G (p.Lys543Glu) c.2002A>G (p.Lys668Glu) c.1279A>G (p.Lys427Glu) | |
| 11 | g.4138297A>T | CA379187012 | RRM1 | c.2293A>T (p.Lys765Ter) c.*2169A>T (n.*2169A>T) c.*2001A>T (n.*2001A>T) c.*1441A>T (n.*1441A>T) c.1627A>T (p.Lys543Ter) c.2002A>T (p.Lys668Ter) c.1279A>T (p.Lys427Ter) | |
| 11 | g.4138298A>C | CA379187017 | RRM1 | c.2294A>C (p.Lys765Thr) c.*2170A>C (n.*2170A>C) c.*2002A>C (n.*2002A>C) c.*1442A>C (n.*1442A>C) c.1628A>C (p.Lys543Thr) c.2003A>C (p.Lys668Thr) c.1280A>C (p.Lys427Thr) | |
| 11 | g.4138298A>G | CA379187019 | RRM1 | c.2294A>G (p.Lys765Arg) c.*2170A>G (n.*2170A>G) c.*2002A>G (n.*2002A>G) c.*1442A>G (n.*1442A>G) c.1628A>G (p.Lys543Arg) c.2003A>G (p.Lys668Arg) c.1280A>G (p.Lys427Arg) | |
| 11 | g.4138298A>T | CA379187016 | RRM1 | c.2294A>T (p.Lys765Ile) c.*2170A>T (n.*2170A>T) c.*2002A>T (n.*2002A>T) c.*1442A>T (n.*1442A>T) c.1628A>T (p.Lys543Ile) c.2003A>T (p.Lys668Ile) c.1280A>T (p.Lys427Ile) | |
| 11 | g.4138299A= | CA1948963896 | RRM1 | c.2295A= (p.Lys765=) c.*2171A= (n.*2171A=) c.*2003A= (n.*2003A=) c.*1443A= (n.*1443A=) c.1629A= (p.Lys543=) c.2004A= (p.Lys668=) c.1281A= (p.Lys427=) | |
| 11 | g.4138299A>C | CA379187022 | RRM1 | c.2295A>C (p.Lys765Asn) c.*2171A>C (n.*2171A>C) c.*2003A>C (n.*2003A>C) c.*1443A>C (n.*1443A>C) c.1629A>C (p.Lys543Asn) c.2004A>C (p.Lys668Asn) c.1281A>C (p.Lys427Asn) | |
| 11 | g.4138299A>G | CA5831201 | RRM1 | c.2295A>G (p.Lys765=) c.*2171A>G (n.*2171A>G) c.*2003A>G (n.*2003A>G) c.*1443A>G (n.*1443A>G) c.1629A>G (p.Lys543=) c.2004A>G (p.Lys668=) c.1281A>G (p.Lys427=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.4138299A>T | CA379187024 | RRM1 | c.2295A>T (p.Lys765Asn) c.*2171A>T (n.*2171A>T) c.*2003A>T (n.*2003A>T) c.*1443A>T (n.*1443A>T) c.1629A>T (p.Lys543Asn) c.2004A>T (p.Lys668Asn) c.1281A>T (p.Lys427Asn) | |
| 11 | g.4138300G>A | CA379187028 | RRM1 | c.2296G>A (p.Glu766Lys) c.*2172G>A (n.*2172G>A) c.*2004G>A (n.*2004G>A) c.*1444G>A (n.*1444G>A) c.1630G>A (p.Glu544Lys) c.2005G>A (p.Glu669Lys) c.1282G>A (p.Glu428Lys) | |
| 11 | g.4138300G>C | CA379187030 | RRM1 | c.2296G>C (p.Glu766Gln) c.*2172G>C (n.*2172G>C) c.*2004G>C (n.*2004G>C) c.*1444G>C (n.*1444G>C) c.1630G>C (p.Glu544Gln) c.2005G>C (p.Glu669Gln) c.1282G>C (p.Glu428Gln) | |
| 11 | g.4138300G>T | CA379187031 | RRM1 | c.2296G>T (p.Glu766Ter) c.*2172G>T (n.*2172G>T) c.*2004G>T (n.*2004G>T) c.*1444G>T (n.*1444G>T) c.1630G>T (p.Glu544Ter) c.2005G>T (p.Glu669Ter) c.1282G>T (p.Glu428Ter) | |
| 11 | g.4138302_4138304del | CA2574734097 | RRM1 | c.2298_2300del (p.Glu767del) c.*2174_*2176del (n.*2174_*2176del) c.*2006_*2008del (n.*2006_*2008del) c.*1446_*1448del (n.*1446_*1448del) c.1632_1634del (p.Glu545del) c.2007_2009del (p.Glu670del) c.1284_1286del (p.Glu429del) | |
| 11 | g.4138301A>C | CA379187032 | RRM1 | c.2297A>C (p.Glu766Ala) c.*2173A>C (n.*2173A>C) c.*2005A>C (n.*2005A>C) c.*1445A>C (n.*1445A>C) c.1631A>C (p.Glu544Ala) c.2006A>C (p.Glu669Ala) c.1283A>C (p.Glu428Ala) | |
| 11 | g.4138301A>G | CA379187034 | RRM1 | c.2297A>G (p.Glu766Gly) c.*2173A>G (n.*2173A>G) c.*2005A>G (n.*2005A>G) c.*1445A>G (n.*1445A>G) c.1631A>G (p.Glu544Gly) c.2006A>G (p.Glu669Gly) c.1283A>G (p.Glu428Gly) | |
| 11 | g.4138301A>T | CA379187035 | RRM1 | c.2297A>T (p.Glu766Val) c.*2173A>T (n.*2173A>T) c.*2005A>T (n.*2005A>T) c.*1445A>T (n.*1445A>T) c.1631A>T (p.Glu544Val) c.2006A>T (p.Glu669Val) c.1283A>T (p.Glu428Val) | |
| 11 | g.4138302G>A | CA472543069 | RRM1 | c.2298G>A (p.Glu766=) c.*2174G>A (n.*2174G>A) c.*2006G>A (n.*2006G>A) c.*1446G>A (n.*1446G>A) c.1632G>A (p.Glu544=) c.2007G>A (p.Glu669=) c.1284G>A (p.Glu428=) | dbSNP gnomAD v4 |
| 11 | g.4138302G>C | CA379187039 | RRM1 | c.2298G>C (p.Glu766Asp) c.*2174G>C (n.*2174G>C) c.*2006G>C (n.*2006G>C) c.*1446G>C (n.*1446G>C) c.1632G>C (p.Glu544Asp) c.2007G>C (p.Glu669Asp) c.1284G>C (p.Glu428Asp) | |
| 11 | g.4138302G= | CA1948963900 | RRM1 | c.2298G= (p.Glu766=) c.*2174G= (n.*2174G=) c.*2006G= (n.*2006G=) c.*1446G= (n.*1446G=) c.1632G= (p.Glu544=) c.2007G= (p.Glu669=) c.1284G= (p.Glu428=) | |
| 11 | g.4138302G>T | CA379187041 | RRM1 | c.2298G>T (p.Glu766Asp) c.*2174G>T (n.*2174G>T) c.*2006G>T (n.*2006G>T) c.*1446G>T (n.*1446G>T) c.1632G>T (p.Glu544Asp) c.2007G>T (p.Glu669Asp) c.1284G>T (p.Glu428Asp) | |
| 11 | g.4138303G>A | CA379187044 | RRM1 | c.2299G>A (p.Glu767Lys) c.*2175G>A (n.*2175G>A) c.*2007G>A (n.*2007G>A) c.*1447G>A (n.*1447G>A) c.1633G>A (p.Glu545Lys) c.2008G>A (p.Glu670Lys) c.1285G>A (p.Glu429Lys) | |
| 11 | g.4138303G>C | CA379187045 | RRM1 | c.2299G>C (p.Glu767Gln) c.*2175G>C (n.*2175G>C) c.*2007G>C (n.*2007G>C) c.*1447G>C (n.*1447G>C) c.1633G>C (p.Glu545Gln) c.2008G>C (p.Glu670Gln) c.1285G>C (p.Glu429Gln) | |
| 11 | g.4138303G>T | CA379187046 | RRM1 | c.2299G>T (p.Glu767Ter) c.*2175G>T (n.*2175G>T) c.*2007G>T (n.*2007G>T) c.*1447G>T (n.*1447G>T) c.1633G>T (p.Glu545Ter) c.2008G>T (p.Glu670Ter) c.1285G>T (p.Glu429Ter) | |
| 11 | g.4138308_4138310del | CA2612115961 | RRM1 | c.2304_2306del (p.Glu769del) c.*2180_*2182del (n.*2180_*2182del) c.*2012_*2014del (n.*2012_*2014del) c.*1452_*1454del (n.*1452_*1454del) c.1638_1640del (p.Glu547del) c.2013_2015del (p.Glu672del) c.1290_1292del (p.Glu431del) | gnomAD v4 |
| 11 | g.4138304A>C | CA379187051 | RRM1 | c.2300A>C (p.Glu767Ala) c.*2176A>C (n.*2176A>C) c.*2008A>C (n.*2008A>C) c.*1448A>C (n.*1448A>C) c.1634A>C (p.Glu545Ala) c.2009A>C (p.Glu670Ala) c.1286A>C (p.Glu429Ala) | |
| 11 | g.4138304A>G | CA379187047 | RRM1 | c.2300A>G (p.Glu767Gly) c.*2176A>G (n.*2176A>G) c.*2008A>G (n.*2008A>G) c.*1448A>G (n.*1448A>G) c.1634A>G (p.Glu545Gly) c.2009A>G (p.Glu670Gly) c.1286A>G (p.Glu429Gly) | |
| 11 | g.4138304A>T | CA379187049 | RRM1 | c.2300A>T (p.Glu767Val) c.*2176A>T (n.*2176A>T) c.*2008A>T (n.*2008A>T) c.*1448A>T (n.*1448A>T) c.1634A>T (p.Glu545Val) c.2009A>T (p.Glu670Val) c.1286A>T (p.Glu429Val) | |
| 11 | g.4138305del | CA2518719732 | RRM1 | c.2301del (p.Glu768LysfsTer21) c.*2177del (n.*2177del) c.*2009del (n.*2009del) c.*1449del (n.*1449del) c.1635del (p.Glu546LysfsTer21) c.2010del (p.Glu671LysfsTer21) c.1287del (p.Glu430LysfsTer21) | |
| 11 | g.4138305A>C | CA379187053 | RRM1 | c.2301A>C (p.Glu767Asp) c.*2177A>C (n.*2177A>C) c.*2009A>C (n.*2009A>C) c.*1449A>C (n.*1449A>C) c.1635A>C (p.Glu545Asp) c.2010A>C (p.Glu670Asp) c.1287A>C (p.Glu429Asp) | |
| 11 | g.4138305A>G | CA472543070 | RRM1 | c.2301A>G (p.Glu767=) c.*2177A>G (n.*2177A>G) c.*2009A>G (n.*2009A>G) c.*1449A>G (n.*1449A>G) c.1635A>G (p.Glu545=) c.2010A>G (p.Glu670=) c.1287A>G (p.Glu429=) | |
| 11 | g.4138305A>T | CA379187056 | RRM1 | c.2301A>T (p.Glu767Asp) c.*2177A>T (n.*2177A>T) c.*2009A>T (n.*2009A>T) c.*1449A>T (n.*1449A>T) c.1635A>T (p.Glu545Asp) c.2010A>T (p.Glu670Asp) c.1287A>T (p.Glu429Asp) | |
| 11 | g.4138306G>A | CA5831202 | RRM1 | c.2302G>A (p.Glu768Lys) c.*2178G>A (n.*2178G>A) c.*2010G>A (n.*2010G>A) c.*1450G>A (n.*1450G>A) c.1636G>A (p.Glu546Lys) c.2011G>A (p.Glu671Lys) c.1288G>A (p.Glu430Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.4138306G>C | CA379187060 | RRM1 | c.2302G>C (p.Glu768Gln) c.*2178G>C (n.*2178G>C) c.*2010G>C (n.*2010G>C) c.*1450G>C (n.*1450G>C) c.1636G>C (p.Glu546Gln) c.2011G>C (p.Glu671Gln) c.1288G>C (p.Glu430Gln) | |
| 11 | g.4138306G= | CA1948963905 | RRM1 | c.2302G= (p.Glu768=) c.*2178G= (n.*2178G=) c.*2010G= (n.*2010G=) c.*1450G= (n.*1450G=) c.1636G= (p.Glu546=) c.2011G= (p.Glu671=) c.1288G= (p.Glu430=) | |
| 11 | g.4138306G>T | CA379187061 | RRM1 | c.2302G>T (p.Glu768Ter) c.*2178G>T (n.*2178G>T) c.*2010G>T (n.*2010G>T) c.*1450G>T (n.*1450G>T) c.1636G>T (p.Glu546Ter) c.2011G>T (p.Glu671Ter) c.1288G>T (p.Glu430Ter) | |
| 11 | g.4138307A>C | CA379187063 | RRM1 | c.2303A>C (p.Glu768Ala) c.*2179A>C (n.*2179A>C) c.*2011A>C (n.*2011A>C) c.*1451A>C (n.*1451A>C) c.1637A>C (p.Glu546Ala) c.2012A>C (p.Glu671Ala) c.1289A>C (p.Glu430Ala) | |
| 11 | g.4138307A>G | CA379187066 | RRM1 | c.2303A>G (p.Glu768Gly) c.*2179A>G (n.*2179A>G) c.*2011A>G (n.*2011A>G) c.*1451A>G (n.*1451A>G) c.1637A>G (p.Glu546Gly) c.2012A>G (p.Glu671Gly) c.1289A>G (p.Glu430Gly) | |
| 11 | g.4138307A>T | CA379187067 | RRM1 | c.2303A>T (p.Glu768Val) c.*2179A>T (n.*2179A>T) c.*2011A>T (n.*2011A>T) c.*1451A>T (n.*1451A>T) c.1637A>T (p.Glu546Val) c.2012A>T (p.Glu671Val) c.1289A>T (p.Glu430Val) | |
| 11 | g.4138307_4138308del | CA2512389813 | RRM1 | c.2303_2304del (p.Glu768GlyfsTer16) c.*2179_*2180del (n.*2179_*2180del) c.*2011_*2012del (n.*2011_*2012del) c.*1451_*1452del (n.*1451_*1452del) c.1637_1638del (p.Glu546GlyfsTer16) c.2012_2013del (p.Glu671GlyfsTer16) c.1289_1290del (p.Glu430GlyfsTer16) | |
| 11 | g.4138308A>C | CA379187071 | RRM1 | c.2304A>C (p.Glu768Asp) c.*2180A>C (n.*2180A>C) c.*2012A>C (n.*2012A>C) c.*1452A>C (n.*1452A>C) c.1638A>C (p.Glu546Asp) c.2013A>C (p.Glu671Asp) c.1290A>C (p.Glu430Asp) | COSMIC |
| 11 | g.4138308A>G | CA472543071 | RRM1 | c.2304A>G (p.Glu768=) c.*2180A>G (n.*2180A>G) c.*2012A>G (n.*2012A>G) c.*1452A>G (n.*1452A>G) c.1638A>G (p.Glu546=) c.2013A>G (p.Glu671=) c.1290A>G (p.Glu430=) | |
| 11 | g.4138308A>T | CA379187074 | RRM1 | c.2304A>T (p.Glu768Asp) c.*2180A>T (n.*2180A>T) c.*2012A>T (n.*2012A>T) c.*1452A>T (n.*1452A>T) c.1638A>T (p.Glu546Asp) c.2013A>T (p.Glu671Asp) c.1290A>T (p.Glu430Asp) | gnomAD v4 |
| 11 | g.4138309G>A | CA379187081 | RRM1 | c.2305G>A (p.Glu769Lys) c.*2181G>A (n.*2181G>A) c.*2013G>A (n.*2013G>A) c.*1453G>A (n.*1453G>A) c.1639G>A (p.Glu547Lys) c.2014G>A (p.Glu672Lys) c.1291G>A (p.Glu431Lys) | |
| 11 | g.4138309G>C | CA379187083 | RRM1 | c.2305G>C (p.Glu769Gln) c.*2181G>C (n.*2181G>C) c.*2013G>C (n.*2013G>C) c.*1453G>C (n.*1453G>C) c.1639G>C (p.Glu547Gln) c.2014G>C (p.Glu672Gln) c.1291G>C (p.Glu431Gln) | gnomAD v4 |
| 11 | g.4138309G>T | CA379187077 | RRM1 | c.2305G>T (p.Glu769Ter) c.*2181G>T (n.*2181G>T) c.*2013G>T (n.*2013G>T) c.*1453G>T (n.*1453G>T) c.1639G>T (p.Glu547Ter) c.2014G>T (p.Glu672Ter) c.1291G>T (p.Glu431Ter) | |
| 11 | g.4138310A>C | CA379187087 | RRM1 | c.2306A>C (p.Glu769Ala) c.*2182A>C (n.*2182A>C) c.*2014A>C (n.*2014A>C) c.*1454A>C (n.*1454A>C) c.1640A>C (p.Glu547Ala) c.2015A>C (p.Glu672Ala) c.1292A>C (p.Glu431Ala) | |
| 11 | g.4138310A>G | CA379187089 | RRM1 | c.2306A>G (p.Glu769Gly) c.*2182A>G (n.*2182A>G) c.*2014A>G (n.*2014A>G) c.*1454A>G (n.*1454A>G) c.1640A>G (p.Glu547Gly) c.2015A>G (p.Glu672Gly) c.1292A>G (p.Glu431Gly) | |
| 11 | g.4138310A>T | CA379187091 | RRM1 | c.2306A>T (p.Glu769Val) c.*2182A>T (n.*2182A>T) c.*2014A>T (n.*2014A>T) c.*1454A>T (n.*1454A>T) c.1640A>T (p.Glu547Val) c.2015A>T (p.Glu672Val) c.1292A>T (p.Glu431Val) | |
| 11 | g.4138312_4138314del | CA2612115962 | RRM1 | c.2308_2310del (p.Lys770del) c.*2184_*2186del (n.*2184_*2186del) c.*2016_*2018del (n.*2016_*2018del) c.*1456_*1458del (n.*1456_*1458del) c.1642_1644del (p.Lys548del) c.2017_2019del (p.Lys673del) c.1294_1296del (p.Lys432del) | gnomAD v4 |
| 11 | g.4138311G>A | CA472543072 | RRM1 | c.2307G>A (p.Glu769=) c.*2183G>A (n.*2183G>A) c.*2015G>A (n.*2015G>A) c.*1455G>A (n.*1455G>A) c.1641G>A (p.Glu547=) c.2016G>A (p.Glu672=) c.1293G>A (p.Glu431=) | gnomAD v4 |
| 11 | g.4138311G>C | CA379187094 | RRM1 | c.2307G>C (p.Glu769Asp) c.*2183G>C (n.*2183G>C) c.*2015G>C (n.*2015G>C) c.*1455G>C (n.*1455G>C) c.1641G>C (p.Glu547Asp) c.2016G>C (p.Glu672Asp) c.1293G>C (p.Glu431Asp) | |
| 11 | g.4138311G>T | CA379187096 | RRM1 | c.2307G>T (p.Glu769Asp) c.*2183G>T (n.*2183G>T) c.*2015G>T (n.*2015G>T) c.*1455G>T (n.*1455G>T) c.1641G>T (p.Glu547Asp) c.2016G>T (p.Glu672Asp) c.1293G>T (p.Glu431Asp) | |
| 11 | g.4138315_4138316insGAGGAAGG | CA2612115963 | RRM1 | c.2311_2312insGAGGAAGG (p.Glu771GlyfsTer21) c.*2187_*2188insGAGGAAGG (n.*2187_*2188insGAGGAAGG) c.*2019_*2020insGAGGAAGG (n.*2019_*2020insGAGGAAGG) c.*1459_*1460insGAGGAAGG (n.*1459_*1460insGAGGAAGG) c.1645_1646insGAGGAAGG (p.Glu549GlyfsTer21) c.2020_2021insGAGGAAGG (p.Glu674GlyfsTer21) c.1297_1298insGAGGAAGG (p.Glu433GlyfsTer21) | gnomAD v4 |
| 11 | g.4138312A>C | CA379187099 | RRM1 | c.2308A>C (p.Lys770Gln) c.*2184A>C (n.*2184A>C) c.*2016A>C (n.*2016A>C) c.*1456A>C (n.*1456A>C) c.1642A>C (p.Lys548Gln) c.2017A>C (p.Lys673Gln) c.1294A>C (p.Lys432Gln) | |
| 11 | g.4138312A>G | CA379187100 | RRM1 | c.2308A>G (p.Lys770Glu) c.*2184A>G (n.*2184A>G) c.*2016A>G (n.*2016A>G) c.*1456A>G (n.*1456A>G) c.1642A>G (p.Lys548Glu) c.2017A>G (p.Lys673Glu) c.1294A>G (p.Lys432Glu) | |
| 11 | g.4138312A>T | CA379187101 | RRM1 | c.2308A>T (p.Lys770Ter) c.*2184A>T (n.*2184A>T) c.*2016A>T (n.*2016A>T) c.*1456A>T (n.*1456A>T) c.1642A>T (p.Lys548Ter) c.2017A>T (p.Lys673Ter) c.1294A>T (p.Lys432Ter) | |
| 11 | g.4138313A>C | CA379187104 | RRM1 | c.2309A>C (p.Lys770Thr) c.*2185A>C (n.*2185A>C) c.*2017A>C (n.*2017A>C) c.*1457A>C (n.*1457A>C) c.1643A>C (p.Lys548Thr) c.2018A>C (p.Lys673Thr) c.1295A>C (p.Lys432Thr) | |
| 11 | g.4138313A>G | CA379187106 | RRM1 | c.2309A>G (p.Lys770Arg) c.*2185A>G (n.*2185A>G) c.*2017A>G (n.*2017A>G) c.*1457A>G (n.*1457A>G) c.1643A>G (p.Lys548Arg) c.2018A>G (p.Lys673Arg) c.1295A>G (p.Lys432Arg) | gnomAD v4 |
| 11 | g.4138313A>T | CA379187108 | RRM1 | c.2309A>T (p.Lys770Met) c.*2185A>T (n.*2185A>T) c.*2017A>T (n.*2017A>T) c.*1457A>T (n.*1457A>T) c.1643A>T (p.Lys548Met) c.2018A>T (p.Lys673Met) c.1295A>T (p.Lys432Met) | |
| 11 | g.4138314G>A | CA472543073 | RRM1 | c.2310G>A (p.Lys770=) c.*2186G>A (n.*2186G>A) c.*2018G>A (n.*2018G>A) c.*1458G>A (n.*1458G>A) c.1644G>A (p.Lys548=) c.2019G>A (p.Lys673=) c.1296G>A (p.Lys432=) | |
| 11 | g.4138314G>C | CA379187111 | RRM1 | c.2310G>C (p.Lys770Asn) c.*2186G>C (n.*2186G>C) c.*2018G>C (n.*2018G>C) c.*1458G>C (n.*1458G>C) c.1644G>C (p.Lys548Asn) c.2019G>C (p.Lys673Asn) c.1296G>C (p.Lys432Asn) | |
| 11 | g.4138314G>T | CA379187113 | RRM1 | c.2310G>T (p.Lys770Asn) c.*2186G>T (n.*2186G>T) c.*2018G>T (n.*2018G>T) c.*1458G>T (n.*1458G>T) c.1644G>T (p.Lys548Asn) c.2019G>T (p.Lys673Asn) c.1296G>T (p.Lys432Asn) | |
| 11 | g.4138315del | CA912972116 | RRM1 | c.2311del (p.Glu771ArgfsTer18) c.*2187del (n.*2187del) c.*2019del (n.*2019del) c.*1459del (n.*1459del) c.1645del (p.Glu549ArgfsTer18) c.2020del (p.Glu674ArgfsTer18) c.1297del (p.Glu433ArgfsTer18) | |
| 11 | g.4138315G>A | CA379187119 | RRM1 | c.2311G>A (p.Glu771Lys) c.*2187G>A (n.*2187G>A) c.*2019G>A (n.*2019G>A) c.*1459G>A (n.*1459G>A) c.1645G>A (p.Glu549Lys) c.2020G>A (p.Glu674Lys) c.1297G>A (p.Glu433Lys) | gnomAD v4 |
| 11 | g.4138315G>C | CA379187118 | RRM1 | c.2311G>C (p.Glu771Gln) c.*2187G>C (n.*2187G>C) c.*2019G>C (n.*2019G>C) c.*1459G>C (n.*1459G>C) c.1645G>C (p.Glu549Gln) c.2020G>C (p.Glu674Gln) c.1297G>C (p.Glu433Gln) | |
| 11 | g.4138315G>T | CA379187116 | RRM1 | c.2311G>T (p.Glu771Ter) c.*2187G>T (n.*2187G>T) c.*2019G>T (n.*2019G>T) c.*1459G>T (n.*1459G>T) c.1645G>T (p.Glu549Ter) c.2020G>T (p.Glu674Ter) c.1297G>T (p.Glu433Ter) | |
| 11 | g.4138316A>C | CA379187121 | RRM1 | c.2312A>C (p.Glu771Ala) c.*2188A>C (n.*2188A>C) c.*2020A>C (n.*2020A>C) c.*1460A>C (n.*1460A>C) c.1646A>C (p.Glu549Ala) c.2021A>C (p.Glu674Ala) c.1298A>C (p.Glu433Ala) | |
| 11 | g.4138316A>G | CA379187123 | RRM1 | c.2312A>G (p.Glu771Gly) c.*2188A>G (n.*2188A>G) c.*2020A>G (n.*2020A>G) c.*1460A>G (n.*1460A>G) c.1646A>G (p.Glu549Gly) c.2021A>G (p.Glu674Gly) c.1298A>G (p.Glu433Gly) | |
| 11 | g.4138316A>T | CA379187125 | RRM1 | c.2312A>T (p.Glu771Val) c.*2188A>T (n.*2188A>T) c.*2020A>T (n.*2020A>T) c.*1460A>T (n.*1460A>T) c.1646A>T (p.Glu549Val) c.2021A>T (p.Glu674Val) c.1298A>T (p.Glu433Val) | |
| 11 | g.4138317G>A | CA472543075 | RRM1 | c.2313G>A (p.Glu771=) c.*2189G>A (n.*2189G>A) c.*2021G>A (n.*2021G>A) c.*1461G>A (n.*1461G>A) c.1647G>A (p.Glu549=) c.2022G>A (p.Glu674=) c.1299G>A (p.Glu433=) | |
| 11 | g.4138317G>C | CA379187128 | RRM1 | c.2313G>C (p.Glu771Asp) c.*2189G>C (n.*2189G>C) c.*2021G>C (n.*2021G>C) c.*1461G>C (n.*1461G>C) c.1647G>C (p.Glu549Asp) c.2022G>C (p.Glu674Asp) c.1299G>C (p.Glu433Asp) | |
| 11 | g.4138317G>T | CA379187130 | RRM1 | c.2313G>T (p.Glu771Asp) c.*2189G>T (n.*2189G>T) c.*2021G>T (n.*2021G>T) c.*1461G>T (n.*1461G>T) c.1647G>T (p.Glu549Asp) c.2022G>T (p.Glu674Asp) c.1299G>T (p.Glu433Asp) | |
| 11 | g.4138318A>C | CA472543076 | RRM1 | c.2314A>C (p.Arg772=) c.*2190A>C (n.*2190A>C) c.*2022A>C (n.*2022A>C) c.*1462A>C (n.*1462A>C) c.1648A>C (p.Arg550=) c.2023A>C (p.Arg675=) c.1300A>C (p.Arg434=) | |
| 11 | g.4138318A>G | CA379187133 | RRM1 | c.2314A>G (p.Arg772Gly) c.*2190A>G (n.*2190A>G) c.*2022A>G (n.*2022A>G) c.*1462A>G (n.*1462A>G) c.1648A>G (p.Arg550Gly) c.2023A>G (p.Arg675Gly) c.1300A>G (p.Arg434Gly) | |
| 11 | g.4138318A>T | CA379187135 | RRM1 | c.2314A>T (p.Arg772Trp) c.*2190A>T (n.*2190A>T) c.*2022A>T (n.*2022A>T) c.*1462A>T (n.*1462A>T) c.1648A>T (p.Arg550Trp) c.2023A>T (p.Arg675Trp) c.1300A>T (p.Arg434Trp) | |
| 11 | g.4138319G>A | CA379187139 | RRM1 | c.2315G>A (p.Arg772Lys) c.*2191G>A (n.*2191G>A) c.*2023G>A (n.*2023G>A) c.*1463G>A (n.*1463G>A) c.1649G>A (p.Arg550Lys) c.2024G>A (p.Arg675Lys) c.1301G>A (p.Arg434Lys) | |
| 11 | g.4138319G>C | CA379187141 | RRM1 | c.2315G>C (p.Arg772Thr) c.*2191G>C (n.*2191G>C) c.*2023G>C (n.*2023G>C) c.*1463G>C (n.*1463G>C) c.1649G>C (p.Arg550Thr) c.2024G>C (p.Arg675Thr) c.1301G>C (p.Arg434Thr) | gnomAD v4 |
| 11 | g.4138319G>T | CA379187143 | RRM1 | c.2315G>T (p.Arg772Met) c.*2191G>T (n.*2191G>T) c.*2023G>T (n.*2023G>T) c.*1463G>T (n.*1463G>T) c.1649G>T (p.Arg550Met) c.2024G>T (p.Arg675Met) c.1301G>T (p.Arg434Met) | |
| 11 | g.4138320G>A | CA472543077 | RRM1 | c.2316G>A (p.Arg772=) c.*2192G>A (n.*2192G>A) c.*2024G>A (n.*2024G>A) c.*1464G>A (n.*1464G>A) c.1650G>A (p.Arg550=) c.2025G>A (p.Arg675=) c.1302G>A (p.Arg434=) | dbSNP |
| 11 | g.4138320G>C | CA379187146 | RRM1 | c.2316G>C (p.Arg772Ser) c.*2192G>C (n.*2192G>C) c.*2024G>C (n.*2024G>C) c.*1464G>C (n.*1464G>C) c.1650G>C (p.Arg550Ser) c.2025G>C (p.Arg675Ser) c.1302G>C (p.Arg434Ser) | gnomAD v4 |
| 11 | g.4138320G= | CA1948963915 | RRM1 | c.2316G= (p.Arg772=) c.*2192G= (n.*2192G=) c.*2024G= (n.*2024G=) c.*1464G= (n.*1464G=) c.1650G= (p.Arg550=) c.2025G= (p.Arg675=) c.1302G= (p.Arg434=) | |
| 11 | g.4138320G>T | CA379187148 | RRM1 | c.2316G>T (p.Arg772Ser) c.*2192G>T (n.*2192G>T) c.*2024G>T (n.*2024G>T) c.*1464G>T (n.*1464G>T) c.1650G>T (p.Arg550Ser) c.2025G>T (p.Arg675Ser) c.1302G>T (p.Arg434Ser) | |
| 11 | g.4138321A= | CA1948963918 | RRM1 | c.2317A= (p.Asn773=) c.*2193A= (n.*2193A=) c.*2025A= (n.*2025A=) c.*1465A= (n.*1465A=) c.1651A= (p.Asn551=) c.2026A= (p.Asn676=) c.1303A= (p.Asn435=) | |
| 11 | g.4138321A>C | CA379187151 | RRM1 | c.2317A>C (p.Asn773His) c.*2193A>C (n.*2193A>C) c.*2025A>C (n.*2025A>C) c.*1465A>C (n.*1465A>C) c.1651A>C (p.Asn551His) c.2026A>C (p.Asn676His) c.1303A>C (p.Asn435His) | |
| 11 | g.4138321A>G | CA379187150 | RRM1 | c.2317A>G (p.Asn773Asp) c.*2193A>G (n.*2193A>G) c.*2025A>G (n.*2025A>G) c.*1465A>G (n.*1465A>G) c.1651A>G (p.Asn551Asp) c.2026A>G (p.Asn676Asp) c.1303A>G (p.Asn435Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.4138321A>T | CA379187149 | RRM1 | c.2317A>T (p.Asn773Tyr) c.*2193A>T (n.*2193A>T) c.*2025A>T (n.*2025A>T) c.*1465A>T (n.*1465A>T) c.1651A>T (p.Asn551Tyr) c.2026A>T (p.Asn676Tyr) c.1303A>T (p.Asn435Tyr) | |
| 11 | g.4138322A= | CA1948963919 | RRM1 | c.2318A= (p.Asn773=) c.*2194A= (n.*2194A=) c.*2026A= (n.*2026A=) c.*1466A= (n.*1466A=) c.1652A= (p.Asn551=) c.2027A= (p.Asn676=) c.1304A= (p.Asn435=) | |
| 11 | g.4138322A>C | CA379187152 | RRM1 | c.2318A>C (p.Asn773Thr) c.*2194A>C (n.*2194A>C) c.*2026A>C (n.*2026A>C) c.*1466A>C (n.*1466A>C) c.1652A>C (p.Asn551Thr) c.2027A>C (p.Asn676Thr) c.1304A>C (p.Asn435Thr) | |
| 11 | g.4138322A>G | CA216529072 | RRM1 | c.2318A>G (p.Asn773Ser) c.*2194A>G (n.*2194A>G) c.*2026A>G (n.*2026A>G) c.*1466A>G (n.*1466A>G) c.1652A>G (p.Asn551Ser) c.2027A>G (p.Asn676Ser) c.1304A>G (p.Asn435Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.4138322A>T | CA379187153 | RRM1 | c.2318A>T (p.Asn773Ile) c.*2194A>T (n.*2194A>T) c.*2026A>T (n.*2026A>T) c.*1466A>T (n.*1466A>T) c.1652A>T (p.Asn551Ile) c.2027A>T (p.Asn676Ile) c.1304A>T (p.Asn435Ile) | |
| 11 | g.4138323C>A | CA379187154 | RRM1 | c.2319C>A (p.Asn773Lys) c.*2195C>A (n.*2195C>A) c.*2027C>A (n.*2027C>A) c.*1467C>A (n.*1467C>A) c.1653C>A (p.Asn551Lys) c.2028C>A (p.Asn676Lys) c.1305C>A (p.Asn435Lys) | |
| 11 | g.4138323C>G | CA379187155 | RRM1 | c.2319C>G (p.Asn773Lys) c.*2195C>G (n.*2195C>G) c.*2027C>G (n.*2027C>G) c.*1467C>G (n.*1467C>G) c.1653C>G (p.Asn551Lys) c.2028C>G (p.Asn676Lys) c.1305C>G (p.Asn435Lys) | |
| 11 | g.4138323C>T | CA472543078 | RRM1 | c.2319C>T (p.Asn773=) c.*2195C>T (n.*2195C>T) c.*2027C>T (n.*2027C>T) c.*1467C>T (n.*1467C>T) c.1653C>T (p.Asn551=) c.2028C>T (p.Asn676=) c.1305C>T (p.Asn435=) | |
| 11 | g.4138324A>C | CA379187156 | RRM1 | c.2320A>C (p.Thr774Pro) c.*2196A>C (n.*2196A>C) c.*2028A>C (n.*2028A>C) c.*1468A>C (n.*1468A>C) c.1654A>C (p.Thr552Pro) c.2029A>C (p.Thr677Pro) c.1306A>C (p.Thr436Pro) | |
| 11 | g.4138324A>G | CA379187158 | RRM1 | c.2320A>G (p.Thr774Ala) c.*2196A>G (n.*2196A>G) c.*2028A>G (n.*2028A>G) c.*1468A>G (n.*1468A>G) c.1654A>G (p.Thr552Ala) c.2029A>G (p.Thr677Ala) c.1306A>G (p.Thr436Ala) | |
| 11 | g.4138324A>T | CA379187157 | RRM1 | c.2320A>T (p.Thr774Ser) c.*2196A>T (n.*2196A>T) c.*2028A>T (n.*2028A>T) c.*1468A>T (n.*1468A>T) c.1654A>T (p.Thr552Ser) c.2029A>T (p.Thr677Ser) c.1306A>T (p.Thr436Ser) | |
| 11 | g.4138325C>A | CA379187159 | RRM1 | c.2321C>A (p.Thr774Lys) c.*2197C>A (n.*2197C>A) c.*2029C>A (n.*2029C>A) c.*1469C>A (n.*1469C>A) c.1655C>A (p.Thr552Lys) c.2030C>A (p.Thr677Lys) c.1307C>A (p.Thr436Lys) | |
| 11 | g.4138325C>G | CA379187161 | RRM1 | c.2321C>G (p.Thr774Arg) c.*2197C>G (n.*2197C>G) c.*2029C>G (n.*2029C>G) c.*1469C>G (n.*1469C>G) c.1655C>G (p.Thr552Arg) c.2030C>G (p.Thr677Arg) c.1307C>G (p.Thr436Arg) | |
| 11 | g.4138325C>T | CA379187160 | RRM1 | c.2321C>T (p.Thr774Ile) c.*2197C>T (n.*2197C>T) c.*2029C>T (n.*2029C>T) c.*1469C>T (n.*1469C>T) c.1655C>T (p.Thr552Ile) c.2030C>T (p.Thr677Ile) c.1307C>T (p.Thr436Ile) | gnomAD v4 |
| 11 | g.4138326A>C | CA472543079 | RRM1 | c.2322A>C (p.Thr774=) c.*2198A>C (n.*2198A>C) c.*2030A>C (n.*2030A>C) c.*1470A>C (n.*1470A>C) c.1656A>C (p.Thr552=) c.2031A>C (p.Thr677=) c.1308A>C (p.Thr436=) | |
| 11 | g.4138326A>G | CA472543080 | RRM1 | c.2322A>G (p.Thr774=) c.*2198A>G (n.*2198A>G) c.*2030A>G (n.*2030A>G) c.*1470A>G (n.*1470A>G) c.1656A>G (p.Thr552=) c.2031A>G (p.Thr677=) c.1308A>G (p.Thr436=) | |
| 11 | g.4138326A>T | CA472543081 | RRM1 | c.2322A>T (p.Thr774=) c.*2198A>T (n.*2198A>T) c.*2030A>T (n.*2030A>T) c.*1470A>T (n.*1470A>T) c.1656A>T (p.Thr552=) c.2031A>T (p.Thr677=) c.1308A>T (p.Thr436=) | |
| 11 | g.4138327G>A | CA379187162 | RRM1 | c.2323G>A (p.Ala775Thr) c.*2199G>A (n.*2199G>A) c.*2031G>A (n.*2031G>A) c.*1471G>A (n.*1471G>A) c.1657G>A (p.Ala553Thr) c.2032G>A (p.Ala678Thr) c.1309G>A (p.Ala437Thr) | |
| 11 | g.4138327G>C | CA379187164 | RRM1 | c.2323G>C (p.Ala775Pro) c.*2199G>C (n.*2199G>C) c.*2031G>C (n.*2031G>C) c.*1471G>C (n.*1471G>C) c.1657G>C (p.Ala553Pro) c.2032G>C (p.Ala678Pro) c.1309G>C (p.Ala437Pro) | |
| 11 | g.4138327G>T | CA379187163 | RRM1 | c.2323G>T (p.Ala775Ser) c.*2199G>T (n.*2199G>T) c.*2031G>T (n.*2031G>T) c.*1471G>T (n.*1471G>T) c.1657G>T (p.Ala553Ser) c.2032G>T (p.Ala678Ser) c.1309G>T (p.Ala437Ser) | |
| 11 | g.4138328C>A | CA379187166 | RRM1 | c.2324C>A (p.Ala775Glu) c.*2200C>A (n.*2200C>A) c.*2032C>A (n.*2032C>A) c.*1472C>A (n.*1472C>A) c.1658C>A (p.Ala553Glu) c.2033C>A (p.Ala678Glu) c.1310C>A (p.Ala437Glu) | |
| 11 | g.4138328C>G | CA379187169 | RRM1 | c.2324C>G (p.Ala775Gly) c.*2200C>G (n.*2200C>G) c.*2032C>G (n.*2032C>G) c.*1472C>G (n.*1472C>G) c.1658C>G (p.Ala553Gly) c.2033C>G (p.Ala678Gly) c.1310C>G (p.Ala437Gly) | |
| 11 | g.4138328C>T | CA379187168 | RRM1 | c.2324C>T (p.Ala775Val) c.*2200C>T (n.*2200C>T) c.*2032C>T (n.*2032C>T) c.*1472C>T (n.*1472C>T) c.1658C>T (p.Ala553Val) c.2033C>T (p.Ala678Val) c.1310C>T (p.Ala437Val) | dbSNP |
| 11 | g.4138329A>C | CA472543082 | RRM1 | c.2325A>C (p.Ala775=) c.*2201A>C (n.*2201A>C) c.*2033A>C (n.*2033A>C) c.*1473A>C (n.*1473A>C) c.1659A>C (p.Ala553=) c.2034A>C (p.Ala678=) c.1311A>C (p.Ala437=) | |
| 11 | g.4138329A>G | CA472543083 | RRM1 | c.2325A>G (p.Ala775=) c.*2201A>G (n.*2201A>G) c.*2033A>G (n.*2033A>G) c.*1473A>G (n.*1473A>G) c.1659A>G (p.Ala553=) c.2034A>G (p.Ala678=) c.1311A>G (p.Ala437=) | |
| 11 | g.4138329A>T | CA472543084 | RRM1 | c.2325A>T (p.Ala775=) c.*2201A>T (n.*2201A>T) c.*2033A>T (n.*2033A>T) c.*1473A>T (n.*1473A>T) c.1659A>T (p.Ala553=) c.2034A>T (p.Ala678=) c.1311A>T (p.Ala437=) | |
| 11 | g.4138330G>A | CA379187172 | RRM1 | c.2326G>A (p.Ala776Thr) c.*2202G>A (n.*2202G>A) c.*2034G>A (n.*2034G>A) c.*1474G>A (n.*1474G>A) c.1660G>A (p.Ala554Thr) c.2035G>A (p.Ala679Thr) c.1312G>A (p.Ala438Thr) | |
| 11 | g.4138330G>C | CA379187174 | RRM1 | c.2326G>C (p.Ala776Pro) c.*2202G>C (n.*2202G>C) c.*2034G>C (n.*2034G>C) c.*1474G>C (n.*1474G>C) c.1660G>C (p.Ala554Pro) c.2035G>C (p.Ala679Pro) c.1312G>C (p.Ala438Pro) | |
| 11 | g.4138330G>T | CA379187176 | RRM1 | c.2326G>T (p.Ala776Ser) c.*2202G>T (n.*2202G>T) c.*2034G>T (n.*2034G>T) c.*1474G>T (n.*1474G>T) c.1660G>T (p.Ala554Ser) c.2035G>T (p.Ala679Ser) c.1312G>T (p.Ala438Ser) | |
| 11 | g.4138331C>A | CA379187178 | RRM1 | c.2327C>A (p.Ala776Asp) c.*2203C>A (n.*2203C>A) c.*2035C>A (n.*2035C>A) c.*1475C>A (n.*1475C>A) c.1661C>A (p.Ala554Asp) c.2036C>A (p.Ala679Asp) c.1313C>A (p.Ala438Asp) | |
| 11 | g.4138331C>G | CA379187179 | RRM1 | c.2327C>G (p.Ala776Gly) c.*2203C>G (n.*2203C>G) c.*2035C>G (n.*2035C>G) c.*1475C>G (n.*1475C>G) c.1661C>G (p.Ala554Gly) c.2036C>G (p.Ala679Gly) c.1313C>G (p.Ala438Gly) | |
| 11 | g.4138331C>T | CA379187181 | RRM1 | c.2327C>T (p.Ala776Val) c.*2203C>T (n.*2203C>T) c.*2035C>T (n.*2035C>T) c.*1475C>T (n.*1475C>T) c.1661C>T (p.Ala554Val) c.2036C>T (p.Ala679Val) c.1313C>T (p.Ala438Val) | |
| 11 | g.4138332C>A | CA472543085 | RRM1 | c.2328C>A (p.Ala776=) c.*2204C>A (n.*2204C>A) c.*2036C>A (n.*2036C>A) c.*1476C>A (n.*1476C>A) c.1662C>A (p.Ala554=) c.2037C>A (p.Ala679=) c.1314C>A (p.Ala438=) | |
| 11 | g.4138332C= | CA1948963922 | RRM1 | c.2328C= (p.Ala776=) c.*2204C= (n.*2204C=) c.*2036C= (n.*2036C=) c.*1476C= (n.*1476C=) c.1662C= (p.Ala554=) c.2037C= (p.Ala679=) c.1314C= (p.Ala438=) | |
| 11 | g.4138332C>G | CA472543086 | RRM1 | c.2328C>G (p.Ala776=) c.*2204C>G (n.*2204C>G) c.*2036C>G (n.*2036C>G) c.*1476C>G (n.*1476C>G) c.1662C>G (p.Ala554=) c.2037C>G (p.Ala679=) c.1314C>G (p.Ala438=) | |
| 11 | g.4138332C>T | CA472543087 | RRM1 | c.2328C>T (p.Ala776=) c.*2204C>T (n.*2204C>T) c.*2036C>T (n.*2036C>T) c.*1476C>T (n.*1476C>T) c.1662C>T (p.Ala554=) c.2037C>T (p.Ala679=) c.1314C>T (p.Ala438=) | dbSNP gnomAD v4 COSMIC |
| 11 | g.4138333A= | CA1948963924 | RRM1 | c.2329A= (p.Met777=) c.*2205A= (n.*2205A=) c.*2037A= (n.*2037A=) c.*1477A= (n.*1477A=) c.1663A= (p.Met555=) c.2038A= (p.Met680=) c.1315A= (p.Met439=) | |
| 11 | g.4138333A>C | CA379187184 | RRM1 | c.2329A>C (p.Met777Leu) c.*2205A>C (n.*2205A>C) c.*2037A>C (n.*2037A>C) c.*1477A>C (n.*1477A>C) c.1663A>C (p.Met555Leu) c.2038A>C (p.Met680Leu) c.1315A>C (p.Met439Leu) | |
| 11 | g.4138333A>G | CA216529076 | RRM1 | c.2329A>G (p.Met777Val) c.*2205A>G (n.*2205A>G) c.*2037A>G (n.*2037A>G) c.*1477A>G (n.*1477A>G) c.1663A>G (p.Met555Val) c.2038A>G (p.Met680Val) c.1315A>G (p.Met439Val) | dbSNP |
| 11 | g.4138333A>T | CA379187187 | RRM1 | c.2329A>T (p.Met777Leu) c.*2205A>T (n.*2205A>T) c.*2037A>T (n.*2037A>T) c.*1477A>T (n.*1477A>T) c.1663A>T (p.Met555Leu) c.2038A>T (p.Met680Leu) c.1315A>T (p.Met439Leu) | gnomAD v4 |
| 11 | g.4138334T>A | CA379187189 | RRM1 | c.2330T>A (p.Met777Lys) c.*2206T>A (n.*2206T>A) c.*2038T>A (n.*2038T>A) c.*1478T>A (n.*1478T>A) c.1664T>A (p.Met555Lys) c.2039T>A (p.Met680Lys) c.1316T>A (p.Met439Lys) | |
| 11 | g.4138334T>C | CA5831203 | RRM1 | c.2330T>C (p.Met777Thr) c.*2206T>C (n.*2206T>C) c.*2038T>C (n.*2038T>C) c.*1478T>C (n.*1478T>C) c.1664T>C (p.Met555Thr) c.2039T>C (p.Met680Thr) c.1316T>C (p.Met439Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.4138334T>G | CA379187191 | RRM1 | c.2330T>G (p.Met777Arg) c.*2206T>G (n.*2206T>G) c.*2038T>G (n.*2038T>G) c.*1478T>G (n.*1478T>G) c.1664T>G (p.Met555Arg) c.2039T>G (p.Met680Arg) c.1316T>G (p.Met439Arg) | |
| 11 | g.4138334T= | CA1948963928 | RRM1 | c.2330T= (p.Met777=) c.*2206T= (n.*2206T=) c.*2038T= (n.*2038T=) c.*1478T= (n.*1478T=) c.1664T= (p.Met555=) c.2039T= (p.Met680=) c.1316T= (p.Met439=) | |
| 11 | g.4138335G>A | CA379187193 | RRM1 | c.2331G>A (p.Met777Ile) c.*2207G>A (n.*2207G>A) c.*2039G>A (n.*2039G>A) c.*1479G>A (n.*1479G>A) c.1665G>A (p.Met555Ile) c.2040G>A (p.Met680Ile) c.1317G>A (p.Met439Ile) | |
| 11 | g.4138335G>C | CA379187196 | RRM1 | c.2331G>C (p.Met777Ile) c.*2207G>C (n.*2207G>C) c.*2039G>C (n.*2039G>C) c.*1479G>C (n.*1479G>C) c.1665G>C (p.Met555Ile) c.2040G>C (p.Met680Ile) c.1317G>C (p.Met439Ile) | |
| 11 | g.4138335G>T | CA379187194 | RRM1 | c.2331G>T (p.Met777Ile) c.*2207G>T (n.*2207G>T) c.*2039G>T (n.*2039G>T) c.*1479G>T (n.*1479G>T) c.1665G>T (p.Met555Ile) c.2040G>T (p.Met680Ile) c.1317G>T (p.Met439Ile) | |
| 11 | g.4138336del | CA2574734098 | RRM1 | c.2332del (p.Val778CysfsTer11) c.*2208del (n.*2208del) c.*2040del (n.*2040del) c.*1480del (n.*1480del) c.1666del (p.Val556CysfsTer11) c.2041del (p.Val681CysfsTer11) c.1318del (p.Val440CysfsTer11) | |
| 11 | g.4138336G>A | CA379187199 | RRM1 | c.2332G>A (p.Val778Met) c.*2208G>A (n.*2208G>A) c.*2040G>A (n.*2040G>A) c.*1480G>A (n.*1480G>A) c.1666G>A (p.Val556Met) c.2041G>A (p.Val681Met) c.1318G>A (p.Val440Met) | gnomAD v4 |
| 11 | g.4138336G>C | CA379187201 | RRM1 | c.2332G>C (p.Val778Leu) c.*2208G>C (n.*2208G>C) c.*2040G>C (n.*2040G>C) c.*1480G>C (n.*1480G>C) c.1666G>C (p.Val556Leu) c.2041G>C (p.Val681Leu) c.1318G>C (p.Val440Leu) | |
| 11 | g.4138336G>T | CA379187204 | RRM1 | c.2332G>T (p.Val778Leu) c.*2208G>T (n.*2208G>T) c.*2040G>T (n.*2040G>T) c.*1480G>T (n.*1480G>T) c.1666G>T (p.Val556Leu) c.2041G>T (p.Val681Leu) c.1318G>T (p.Val440Leu) | |
| 11 | g.4138337T>A | CA379187207 | RRM1 | c.2333T>A (p.Val778Glu) c.*2209T>A (n.*2209T>A) c.*2041T>A (n.*2041T>A) c.*1481T>A (n.*1481T>A) c.1667T>A (p.Val556Glu) c.2042T>A (p.Val681Glu) c.1319T>A (p.Val440Glu) | |
| 11 | g.4138337T>C | CA5831204 | RRM1 | c.2333T>C (p.Val778Ala) c.*2209T>C (n.*2209T>C) c.*2041T>C (n.*2041T>C) c.*1481T>C (n.*1481T>C) c.1667T>C (p.Val556Ala) c.2042T>C (p.Val681Ala) c.1319T>C (p.Val440Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.4138337T>G | CA379187212 | RRM1 | c.2333T>G (p.Val778Gly) c.*2209T>G (n.*2209T>G) c.*2041T>G (n.*2041T>G) c.*1481T>G (n.*1481T>G) c.1667T>G (p.Val556Gly) c.2042T>G (p.Val681Gly) c.1319T>G (p.Val440Gly) | |
| 11 | g.4138337T= | CA1948963930 | RRM1 | c.2333T= (p.Val778=) c.*2209T= (n.*2209T=) c.*2041T= (n.*2041T=) c.*1481T= (n.*1481T=) c.1667T= (p.Val556=) c.2042T= (p.Val681=) c.1319T= (p.Val440=) | |
| 11 | g.4138338G>A | CA472543088 | RRM1 | c.2334G>A (p.Val778=) c.*2210G>A (n.*2210G>A) c.*2042G>A (n.*2042G>A) c.*1482G>A (n.*1482G>A) c.1668G>A (p.Val556=) c.2043G>A (p.Val681=) c.1320G>A (p.Val440=) | |
| 11 | g.4138338G>C | CA472543089 | RRM1 | c.2334G>C (p.Val778=) c.*2210G>C (n.*2210G>C) c.*2042G>C (n.*2042G>C) c.*1482G>C (n.*1482G>C) c.1668G>C (p.Val556=) c.2043G>C (p.Val681=) c.1320G>C (p.Val440=) | |
| 11 | g.4138338G>T | CA472543090 | RRM1 | c.2334G>T (p.Val778=) c.*2210G>T (n.*2210G>T) c.*2042G>T (n.*2042G>T) c.*1482G>T (n.*1482G>T) c.1668G>T (p.Val556=) c.2043G>T (p.Val681=) c.1320G>T (p.Val440=) | |
| 11 | g.4138339T>A | CA379187216 | RRM1 | c.2335T>A (p.Cys779Ser) c.*2211T>A (n.*2211T>A) c.*2043T>A (n.*2043T>A) c.*1483T>A (n.*1483T>A) c.1669T>A (p.Cys557Ser) c.2044T>A (p.Cys682Ser) c.1321T>A (p.Cys441Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.4138339T>C | CA379187219 | RRM1 | c.2335T>C (p.Cys779Arg) c.*2211T>C (n.*2211T>C) c.*2043T>C (n.*2043T>C) c.*1483T>C (n.*1483T>C) c.1669T>C (p.Cys557Arg) c.2044T>C (p.Cys682Arg) c.1321T>C (p.Cys441Arg) | |
| 11 | g.4138339T>G | CA379187221 | RRM1 | c.2335T>G (p.Cys779Gly) c.*2211T>G (n.*2211T>G) c.*2043T>G (n.*2043T>G) c.*1483T>G (n.*1483T>G) c.1669T>G (p.Cys557Gly) c.2044T>G (p.Cys682Gly) c.1321T>G (p.Cys441Gly) | |
| 11 | g.4138339T= | CA1948963932 | RRM1 | c.2335T= (p.Cys779=) c.*2211T= (n.*2211T=) c.*2043T= (n.*2043T=) c.*1483T= (n.*1483T=) c.1669T= (p.Cys557=) c.2044T= (p.Cys682=) c.1321T= (p.Cys441=) | |
| 11 | g.4138340G>A | CA379187227 | RRM1 | c.2336G>A (p.Cys779Tyr) c.*2212G>A (n.*2212G>A) c.*2044G>A (n.*2044G>A) c.*1484G>A (n.*1484G>A) c.1670G>A (p.Cys557Tyr) c.2045G>A (p.Cys682Tyr) c.1322G>A (p.Cys441Tyr) | gnomAD v4 |
| 11 | g.4138340G>C | CA379187230 | RRM1 | c.2336G>C (p.Cys779Ser) c.*2212G>C (n.*2212G>C) c.*2044G>C (n.*2044G>C) c.*1484G>C (n.*1484G>C) c.1670G>C (p.Cys557Ser) c.2045G>C (p.Cys682Ser) c.1322G>C (p.Cys441Ser) | |
| 11 | g.4138340G>T | CA379187224 | RRM1 | c.2336G>T (p.Cys779Phe) c.*2212G>T (n.*2212G>T) c.*2044G>T (n.*2044G>T) c.*1484G>T (n.*1484G>T) c.1670G>T (p.Cys557Phe) c.2045G>T (p.Cys682Phe) c.1322G>T (p.Cys441Phe) | |
| 11 | g.4138341C>A | CA379187234 | RRM1 | c.2337C>A (p.Cys779Ter) c.*2213C>A (n.*2213C>A) c.*2045C>A (n.*2045C>A) c.*1485C>A (n.*1485C>A) c.1671C>A (p.Cys557Ter) c.2046C>A (p.Cys682Ter) c.1323C>A (p.Cys441Ter) | |
| 11 | g.4138341C= | CA1948963934 | RRM1 | c.2337C= (p.Cys779=) c.*2213C= (n.*2213C=) c.*2045C= (n.*2045C=) c.*1485C= (n.*1485C=) c.1671C= (p.Cys557=) c.2046C= (p.Cys682=) c.1323C= (p.Cys441=) | |
| 11 | g.4138341C>G | CA379187237 | RRM1 | c.2337C>G (p.Cys779Trp) c.*2213C>G (n.*2213C>G) c.*2045C>G (n.*2045C>G) c.*1485C>G (n.*1485C>G) c.1671C>G (p.Cys557Trp) c.2046C>G (p.Cys682Trp) c.1323C>G (p.Cys441Trp) | |
| 11 | g.4138341C>T | CA472543091 | RRM1 | c.2337C>T (p.Cys779=) c.*2213C>T (n.*2213C>T) c.*2045C>T (n.*2045C>T) c.*1485C>T (n.*1485C>T) c.1671C>T (p.Cys557=) c.2046C>T (p.Cys682=) c.1323C>T (p.Cys441=) | dbSNP |
| 11 | g.4138342T>A | CA379187241 | RRM1 | c.2338T>A (p.Ser780Thr) c.*2214T>A (n.*2214T>A) c.*2046T>A (n.*2046T>A) c.*1486T>A (n.*1486T>A) c.1672T>A (p.Ser558Thr) c.2047T>A (p.Ser683Thr) c.1324T>A (p.Ser442Thr) | |
| 11 | g.4138342T>C | CA379187244 | RRM1 | c.2338T>C (p.Ser780Pro) c.*2214T>C (n.*2214T>C) c.*2046T>C (n.*2046T>C) c.*1486T>C (n.*1486T>C) c.1672T>C (p.Ser558Pro) c.2047T>C (p.Ser683Pro) c.1324T>C (p.Ser442Pro) | |
| 11 | g.4138342T>G | CA379187247 | RRM1 | c.2338T>G (p.Ser780Ala) c.*2214T>G (n.*2214T>G) c.*2046T>G (n.*2046T>G) c.*1486T>G (n.*1486T>G) c.1672T>G (p.Ser558Ala) c.2047T>G (p.Ser683Ala) c.1324T>G (p.Ser442Ala) | |
| 11 | g.4138343C>A | CA379187257 | RRM1 | c.2339C>A (p.Ser780Tyr) c.*2215C>A (n.*2215C>A) c.*2047C>A (n.*2047C>A) c.*1487C>A (n.*1487C>A) c.1673C>A (p.Ser558Tyr) c.2048C>A (p.Ser683Tyr) c.1325C>A (p.Ser442Tyr) | |
| 11 | g.4138343C>G | CA379187251 | RRM1 | c.2339C>G (p.Ser780Cys) c.*2215C>G (n.*2215C>G) c.*2047C>G (n.*2047C>G) c.*1487C>G (n.*1487C>G) c.1673C>G (p.Ser558Cys) c.2048C>G (p.Ser683Cys) c.1325C>G (p.Ser442Cys) | |
| 11 | g.4138343C>T | CA379187253 | RRM1 | c.2339C>T (p.Ser780Phe) c.*2215C>T (n.*2215C>T) c.*2047C>T (n.*2047C>T) c.*1487C>T (n.*1487C>T) c.1673C>T (p.Ser558Phe) c.2048C>T (p.Ser683Phe) c.1325C>T (p.Ser442Phe) | |
| 11 | g.4138344T>A | CA472543092 | RRM1 | c.2340T>A (p.Ser780=) c.*2216T>A (n.*2216T>A) c.*2048T>A (n.*2048T>A) c.*1488T>A (n.*1488T>A) c.1674T>A (p.Ser558=) c.2049T>A (p.Ser683=) c.1326T>A (p.Ser442=) | |
| 11 | g.4138344T>C | CA472543093 | RRM1 | c.2340T>C (p.Ser780=) c.*2216T>C (n.*2216T>C) c.*2048T>C (n.*2048T>C) c.*1488T>C (n.*1488T>C) c.1674T>C (p.Ser558=) c.2049T>C (p.Ser683=) c.1326T>C (p.Ser442=) | gnomAD v4 |
| 11 | g.4138344T>G | CA472543094 | RRM1 | c.2340T>G (p.Ser780=) c.*2216T>G (n.*2216T>G) c.*2048T>G (n.*2048T>G) c.*1488T>G (n.*1488T>G) c.1674T>G (p.Ser558=) c.2049T>G (p.Ser683=) c.1326T>G (p.Ser442=) |