Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47470591_47478986del | CA331343 | MSH2 | c.1662-374_2458+467del c.1464-374_2260+467del c.1662-397_*758+467del c.*58-374_*854+467del c.*202-374_*998+467del c.*428-374_*1224+467del c.*634-374_*1430+467del c.1662-374_*24+467del n.1734-374_2530+467del n.1724-374_2520+467del | ClinVar |
2 | g.47471367_47476333del | CA331371 | MSH2 | c.1759+305_2006-34del c.1561+305_1808-34del c.*59+305_*306-34del c.*155+305_*402-34del c.*299+305_*546-34del c.*525+305_*772-34del c.*731+305_*978-34del n.1831+305_2078-34del n.1821+305_2068-34del | ClinVar |
2 | g.47474664_47481709del | CA331375 | MSH2 | c.1760-361_2634+838del c.1562-361_2436+838del c.*60-361_*934+838del c.*156-361_*1030+838del c.*300-361_*1174+838del c.*526-361_*1400+838del c.*732-361_*1606+838del c.1760-361_*200+838del n.1832-361_2706+838del n.1822-361_2696+838del | ClinVar |
2 | g.47475022_47476070del | CA2499216054 | MSH2 | c.1760-3_2006-297del c.1562-3_1808-297del c.*60-3_*306-297del c.*156-3_*402-297del c.*300-3_*546-297del c.*526-3_*772-297del c.*732-3_*978-297del n.1832-3_2078-297del n.1822-3_2068-297del | ClinVar |
2 | g.47475022_47475723del | CA2499216055 | MSH2 | c.1760-3_2005+453del c.1562-3_1807+453del c.*60-3_*305+453del c.*156-3_*401+453del c.*300-3_*545+453del c.*526-3_*771+453del c.*732-3_*977+453del n.1832-3_2077+453del n.1822-3_2067+453del | ClinVar dbSNP |
2 | g.47475022_47476067del | CA2499216056 | MSH2 | c.1760-3_2006-300del c.1562-3_1808-300del c.*60-3_*306-300del c.*156-3_*402-300del c.*300-3_*546-300del c.*526-3_*772-300del c.*732-3_*978-300del n.1832-3_2078-300del n.1822-3_2068-300del | ClinVar |
2 | g.47475026_47478520del | CA2580061388 | MSH2 | c.1761_2458+1del c.1563_2260+1del c.*61_*758+1del c.*157_*854+1del c.*301_*998+1del c.*527_*1224+1del c.*733_*1430+1del c.1761_*24+1del n.1833_2530+1del n.1823_2520+1del | |
2 | g.47475171_47475278del | CA2580067045 | MSH2 | c.1906_2005+8del c.1708_1807+8del c.*206_*305+8del c.*302_*401+8del c.*446_*545+8del c.*672_*771+8del c.*878_*977+8del n.1978_2077+8del n.1968_2067+8del | ClinVar |
2 | g.47475237_47475247del | CA2580067082 | MSH2 | c.1972_1982del (p.Glu658ThrfsTer14) c.1774_1784del (p.Glu592ThrfsTer14) c.*272_*282del (n.*272_*282del) c.*368_*378del (n.*368_*378del) c.*512_*522del (n.*512_*522del) c.*738_*748del (n.*738_*748del) c.*944_*954del (n.*944_*954del) n.2044_2054del n.2034_2044del | ClinVar |
2 | g.47475242dup | CA2580067083 | MSH2 | c.1977dup (p.Asp660ArgfsTer2) c.1779dup (p.Asp594ArgfsTer2) c.*277dup (n.*277dup) c.*373dup (n.*373dup) c.*517dup (n.*517dup) c.*743dup (n.*743dup) c.*949dup (n.*949dup) n.2049dup n.2039dup | ClinVar |
2 | g.47475242del | CA2580067084 | MSH2 | c.1977del (p.Asp660IlefsTer25) c.1779del (p.Asp594IlefsTer25) c.*277del (n.*277del) c.*373del (n.*373del) c.*517del (n.*517del) c.*743del (n.*743del) c.*949del (n.*949del) n.2049del n.2039del | ClinVar |
2 | g.47475240A= | CA2495872573 | MSH2 | c.1975A= (p.Lys659=) c.1777A= (p.Lys593=) c.*275A= (n.*275A=) c.*371A= (n.*371A=) c.*515A= (n.*515A=) c.*741A= (n.*741A=) c.*947A= (n.*947A=) n.2047A= n.2037A= | |
2 | g.47475240A>C | CA346728847 | MSH2 | c.1975A>C (p.Lys659Gln) c.1777A>C (p.Lys593Gln) c.*275A>C (n.*275A>C) c.*371A>C (n.*371A>C) c.*515A>C (n.*515A>C) c.*741A>C (n.*741A>C) c.*947A>C (n.*947A>C) n.2047A>C n.2037A>C | |
2 | g.47475240A>G | CA346728846 | MSH2 | c.1975A>G (p.Lys659Glu) c.1777A>G (p.Lys593Glu) c.*275A>G (n.*275A>G) c.*371A>G (n.*371A>G) c.*515A>G (n.*515A>G) c.*741A>G (n.*741A>G) c.*947A>G (n.*947A>G) n.2047A>G n.2037A>G | ClinVar dbSNP |
2 | g.47475240A>T | CA346728845 | MSH2 | c.1975A>T (p.Lys659Ter) c.1777A>T (p.Lys593Ter) c.*275A>T (n.*275A>T) c.*371A>T (n.*371A>T) c.*515A>T (n.*515A>T) c.*741A>T (n.*741A>T) c.*947A>T (n.*947A>T) n.2047A>T n.2037A>T | dbSNP |
2 | g.47475241A= | CA2495872574 | MSH2 | c.1976A= (p.Lys659=) c.1778A= (p.Lys593=) c.*276A= (n.*276A=) c.*372A= (n.*372A=) c.*516A= (n.*516A=) c.*742A= (n.*742A=) c.*948A= (n.*948A=) n.2048A= n.2038A= | |
2 | g.47475241A>C | CA346728849 | MSH2 | c.1976A>C (p.Lys659Thr) c.1778A>C (p.Lys593Thr) c.*276A>C (n.*276A>C) c.*372A>C (n.*372A>C) c.*516A>C (n.*516A>C) c.*742A>C (n.*742A>C) c.*948A>C (n.*948A>C) n.2048A>C n.2038A>C | COSMIC |
2 | g.47475241A>G | CA346728850 | MSH2 | c.1976A>G (p.Lys659Arg) c.1778A>G (p.Lys593Arg) c.*276A>G (n.*276A>G) c.*372A>G (n.*372A>G) c.*516A>G (n.*516A>G) c.*742A>G (n.*742A>G) c.*948A>G (n.*948A>G) n.2048A>G n.2038A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475241A>T | CA346728851 | MSH2 | c.1976A>T (p.Lys659Ile) c.1778A>T (p.Lys593Ile) c.*276A>T (n.*276A>T) c.*372A>T (n.*372A>T) c.*516A>T (n.*516A>T) c.*742A>T (n.*742A>T) c.*948A>T (n.*948A>T) n.2048A>T n.2038A>T | dbSNP |
2 | g.47475242A= | CA2495872575 | MSH2 | c.1977A= (p.Lys659=) c.1779A= (p.Lys593=) c.*277A= (n.*277A=) c.*373A= (n.*373A=) c.*517A= (n.*517A=) c.*743A= (n.*743A=) c.*949A= (n.*949A=) n.2049A= n.2039A= | |
2 | g.47475242A>C | CA346728853 | MSH2 | c.1977A>C (p.Lys659Asn) c.1779A>C (p.Lys593Asn) c.*277A>C (n.*277A>C) c.*373A>C (n.*373A>C) c.*517A>C (n.*517A>C) c.*743A>C (n.*743A>C) c.*949A>C (n.*949A>C) n.2049A>C n.2039A>C | ClinVar dbSNP |
2 | g.47475242A>G | CA426119773 | MSH2 | c.1977A>G (p.Lys659=) c.1779A>G (p.Lys593=) c.*277A>G (n.*277A>G) c.*373A>G (n.*373A>G) c.*517A>G (n.*517A>G) c.*743A>G (n.*743A>G) c.*949A>G (n.*949A>G) n.2049A>G n.2039A>G | ClinVar dbSNP |
2 | g.47475242A>T | CA346728854 | MSH2 | c.1977A>T (p.Lys659Asn) c.1779A>T (p.Lys593Asn) c.*277A>T (n.*277A>T) c.*373A>T (n.*373A>T) c.*517A>T (n.*517A>T) c.*743A>T (n.*743A>T) c.*949A>T (n.*949A>T) n.2049A>T n.2039A>T | dbSNP |
2 | g.47475243G>A | CA346728857 | MSH2 | c.1978G>A (p.Asp660Asn) c.1780G>A (p.Asp594Asn) c.*278G>A (n.*278G>A) c.*374G>A (n.*374G>A) c.*518G>A (n.*518G>A) c.*744G>A (n.*744G>A) c.*950G>A (n.*950G>A) n.2050G>A n.2040G>A | ClinVar dbSNP |
2 | g.47475243G>C | CA346728859 | MSH2 | c.1978G>C (p.Asp660His) c.1780G>C (p.Asp594His) c.*278G>C (n.*278G>C) c.*374G>C (n.*374G>C) c.*518G>C (n.*518G>C) c.*744G>C (n.*744G>C) c.*950G>C (n.*950G>C) n.2050G>C n.2040G>C | |
2 | g.47475243G>T | CA346728861 | MSH2 | c.1978G>T (p.Asp660Tyr) c.1780G>T (p.Asp594Tyr) c.*278G>T (n.*278G>T) c.*374G>T (n.*374G>T) c.*518G>T (n.*518G>T) c.*744G>T (n.*744G>T) c.*950G>T (n.*950G>T) n.2050G>T n.2040G>T | gnomAD v4 |
2 | g.47475243_47475245delinsGAT | CA2495872576 | MSH2 | c.1978_1980delinsGAT (p.Asp660=) c.1780_1782delinsGAT (p.Asp594=) c.*278_*280delinsGAT (n.*278_*280delinsGAT) c.*374_*376delinsGAT (n.*374_*376delinsGAT) c.*518_*520delinsGAT (n.*518_*520delinsGAT) c.*744_*746delinsGAT (n.*744_*746delinsGAT) c.*950_*952delinsGAT (n.*950_*952delinsGAT) n.2050_2052delinsGAT n.2040_2042delinsGAT | |
2 | g.47475244A= | CA2495872577 | MSH2 | c.1979A= (p.Asp660=) c.1781A= (p.Asp594=) c.*279A= (n.*279A=) c.*375A= (n.*375A=) c.*519A= (n.*519A=) c.*745A= (n.*745A=) c.*951A= (n.*951A=) n.2051A= n.2041A= | |
2 | g.47475244A>C | CA346728863 | MSH2 | c.1979A>C (p.Asp660Ala) c.1781A>C (p.Asp594Ala) c.*279A>C (n.*279A>C) c.*375A>C (n.*375A>C) c.*519A>C (n.*519A>C) c.*745A>C (n.*745A>C) c.*951A>C (n.*951A>C) n.2051A>C n.2041A>C | |
2 | g.47475244A>G | CA346728864 | MSH2 | c.1979A>G (p.Asp660Gly) c.1781A>G (p.Asp594Gly) c.*279A>G (n.*279A>G) c.*375A>G (n.*375A>G) c.*519A>G (n.*519A>G) c.*745A>G (n.*745A>G) c.*951A>G (n.*951A>G) n.2051A>G n.2041A>G | ClinVar dbSNP |
2 | g.47475244A>T | CA346728866 | MSH2 | c.1979A>T (p.Asp660Val) c.1781A>T (p.Asp594Val) c.*279A>T (n.*279A>T) c.*375A>T (n.*375A>T) c.*519A>T (n.*519A>T) c.*745A>T (n.*745A>T) c.*951A>T (n.*951A>T) n.2051A>T n.2041A>T | ClinVar dbSNP |
2 | g.47475245_47475246del | CA019630 | MSH2 | c.1980_1981del (p.Asp660GlufsTer15) c.1782_1783del (p.Asp594GlufsTer15) c.*280_*281del (n.*280_*281del) c.*376_*377del (n.*376_*377del) c.*520_*521del (n.*520_*521del) c.*746_*747del (n.*746_*747del) c.*952_*953del (n.*952_*953del) n.2052_2053del n.2042_2043del | ClinVar dbSNP |
2 | g.47475245T>A | CA16610819 | MSH2 | c.1980T>A (p.Asp660Glu) c.1782T>A (p.Asp594Glu) c.*280T>A (n.*280T>A) c.*376T>A (n.*376T>A) c.*520T>A (n.*520T>A) c.*746T>A (n.*746T>A) c.*952T>A (n.*952T>A) n.2052T>A n.2042T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475245T>C | CA426119774 | MSH2 | c.1980T>C (p.Asp660=) c.1782T>C (p.Asp594=) c.*280T>C (n.*280T>C) c.*376T>C (n.*376T>C) c.*520T>C (n.*520T>C) c.*746T>C (n.*746T>C) c.*952T>C (n.*952T>C) n.2052T>C n.2042T>C | ClinVar dbSNP |
2 | g.47475245T>G | CA346728867 | MSH2 | c.1980T>G (p.Asp660Glu) c.1782T>G (p.Asp594Glu) c.*280T>G (n.*280T>G) c.*376T>G (n.*376T>G) c.*520T>G (n.*520T>G) c.*746T>G (n.*746T>G) c.*952T>G (n.*952T>G) n.2052T>G n.2042T>G | |
2 | g.47475245T= | CA2495872578 | MSH2 | c.1980T= (p.Asp660=) c.1782T= (p.Asp594=) c.*280T= (n.*280T=) c.*376T= (n.*376T=) c.*520T= (n.*520T=) c.*746T= (n.*746T=) c.*952T= (n.*952T=) n.2052T= n.2042T= | |
2 | g.47475245_47475246delinsAT | CA46700638 | MSH2 | c.1980_1981delinsAT (p.Asp660GlufsTer2) c.1782_1783delinsAT (p.Asp594GlufsTer2) c.*280_*281delinsAT (n.*280_*281delinsAT) c.*376_*377delinsAT (n.*376_*377delinsAT) c.*520_*521delinsAT (n.*520_*521delinsAT) c.*746_*747delinsAT (n.*746_*747delinsAT) c.*952_*953delinsAT (n.*952_*953delinsAT) n.2052_2053delinsAT n.2042_2043delinsAT | |
2 | g.47475245_47475249delinsTAAAC | CA2495872579 | MSH2 | c.1980_1984delinsTAAAC (p.Asp660=) c.1782_1786delinsTAAAC (p.Asp594=) c.*280_*284delinsTAAAC (n.*280_*284delinsTAAAC) c.*376_*380delinsTAAAC (n.*376_*380delinsTAAAC) c.*520_*524delinsTAAAC (n.*520_*524delinsTAAAC) c.*746_*750delinsTAAAC (n.*746_*750delinsTAAAC) c.*952_*956delinsTAAAC (n.*952_*956delinsTAAAC) n.2052_2056delinsTAAAC n.2042_2046delinsTAAAC | |
2 | g.47475246A= | CA2495872580 | MSH2 | c.1981A= (p.Lys661=) c.1783A= (p.Lys595=) c.*281A= (n.*281A=) c.*377A= (n.*377A=) c.*521A= (n.*521A=) c.*747A= (n.*747A=) c.*953A= (n.*953A=) n.2053A= n.2043A= | |
2 | g.47475246A>C | CA346728870 | MSH2 | c.1981A>C (p.Lys661Gln) c.1783A>C (p.Lys595Gln) c.*281A>C (n.*281A>C) c.*377A>C (n.*377A>C) c.*521A>C (n.*521A>C) c.*747A>C (n.*747A>C) c.*953A>C (n.*953A>C) n.2053A>C n.2043A>C | |
2 | g.47475246A>G | CA346728873 | MSH2 | c.1981A>G (p.Lys661Glu) c.1783A>G (p.Lys595Glu) c.*281A>G (n.*281A>G) c.*377A>G (n.*377A>G) c.*521A>G (n.*521A>G) c.*747A>G (n.*747A>G) c.*953A>G (n.*953A>G) n.2053A>G n.2043A>G | ClinVar dbSNP |
2 | g.47475246A>T | CA346728871 | MSH2 | c.1981A>T (p.Lys661Ter) c.1783A>T (p.Lys595Ter) c.*281A>T (n.*281A>T) c.*377A>T (n.*377A>T) c.*521A>T (n.*521A>T) c.*747A>T (n.*747A>T) c.*953A>T (n.*953A>T) n.2053A>T n.2043A>T | ClinVar dbSNP |
2 | g.47475248dup | CA46700639 | MSH2 | c.1983dup (p.Gln662ThrfsTer14) c.1785dup (p.Gln596ThrfsTer14) c.*283dup (n.*283dup) c.*379dup (n.*379dup) c.*523dup (n.*523dup) c.*749dup (n.*749dup) c.*955dup (n.*955dup) n.2055dup n.2045dup | ClinVar dbSNP |
2 | g.47475248del | CA2573134871 | MSH2 | c.1983del (p.Lys661AsnfsTer24) c.1785del (p.Lys595AsnfsTer24) c.*283del (n.*283del) c.*379del (n.*379del) c.*523del (n.*523del) c.*749del (n.*749del) c.*955del (n.*955del) n.2055del n.2045del | ClinVar dbSNP |
2 | g.47475247_47475250del | CA019637 | MSH2 | c.1982_1985del (p.Lys661ArgfsTer23) c.1784_1787del (p.Lys595ArgfsTer23) c.*282_*285del (n.*282_*285del) c.*378_*381del (n.*378_*381del) c.*522_*525del (n.*522_*525del) c.*748_*751del (n.*748_*751del) c.*954_*957del (n.*954_*957del) n.2054_2057del n.2044_2047del | ClinVar dbSNP |
2 | g.47475247A= | CA2495872582 | MSH2 | c.1982A= (p.Lys661=) c.1784A= (p.Lys595=) c.*282A= (n.*282A=) c.*378A= (n.*378A=) c.*522A= (n.*522A=) c.*748A= (n.*748A=) c.*954A= (n.*954A=) n.2054A= n.2044A= | |
2 | g.47475247A>C | CA346728875 | MSH2 | c.1982A>C (p.Lys661Thr) c.1784A>C (p.Lys595Thr) c.*282A>C (n.*282A>C) c.*378A>C (n.*378A>C) c.*522A>C (n.*522A>C) c.*748A>C (n.*748A>C) c.*954A>C (n.*954A>C) n.2054A>C n.2044A>C | |
2 | g.47475247A>G | CA346728877 | MSH2 | c.1982A>G (p.Lys661Arg) c.1784A>G (p.Lys595Arg) c.*282A>G (n.*282A>G) c.*378A>G (n.*378A>G) c.*522A>G (n.*522A>G) c.*748A>G (n.*748A>G) c.*954A>G (n.*954A>G) n.2054A>G n.2044A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47475247A>T | CA346728878 | MSH2 | c.1982A>T (p.Lys661Ile) c.1784A>T (p.Lys595Ile) c.*282A>T (n.*282A>T) c.*378A>T (n.*378A>T) c.*522A>T (n.*522A>T) c.*748A>T (n.*748A>T) c.*954A>T (n.*954A>T) n.2054A>T n.2044A>T | |
2 | g.47475247_47475249delinsAAC | CA2495872581 | MSH2 | c.1982_1984delinsAAC (p.Lys661=) c.1784_1786delinsAAC (p.Lys595=) c.*282_*284delinsAAC (n.*282_*284delinsAAC) c.*378_*380delinsAAC (n.*378_*380delinsAAC) c.*522_*524delinsAAC (n.*522_*524delinsAAC) c.*748_*750delinsAAC (n.*748_*750delinsAAC) c.*954_*956delinsAAC (n.*954_*956delinsAAC) n.2054_2056delinsAAC n.2044_2046delinsAAC | |
2 | g.47475248A>C | CA346728880 | MSH2 | c.1983A>C (p.Lys661Asn) c.1785A>C (p.Lys595Asn) c.*283A>C (n.*283A>C) c.*379A>C (n.*379A>C) c.*523A>C (n.*523A>C) c.*749A>C (n.*749A>C) c.*955A>C (n.*955A>C) n.2055A>C n.2045A>C | dbSNP |
2 | g.47475248A>G | CA426119775 | MSH2 | c.1983A>G (p.Lys661=) c.1785A>G (p.Lys595=) c.*283A>G (n.*283A>G) c.*379A>G (n.*379A>G) c.*523A>G (n.*523A>G) c.*749A>G (n.*749A>G) c.*955A>G (n.*955A>G) n.2055A>G n.2045A>G | dbSNP |
2 | g.47475248A>T | CA346728881 | MSH2 | c.1983A>T (p.Lys661Asn) c.1785A>T (p.Lys595Asn) c.*283A>T (n.*283A>T) c.*379A>T (n.*379A>T) c.*523A>T (n.*523A>T) c.*749A>T (n.*749A>T) c.*955A>T (n.*955A>T) n.2055A>T n.2045A>T | dbSNP |
2 | g.47475249_47475250del | CA019642 | MSH2 | c.1984_1985del (p.Gln662AspfsTer13) c.1786_1787del (p.Gln596AspfsTer13) c.*284_*285del (n.*284_*285del) c.*380_*381del (n.*380_*381del) c.*524_*525del (n.*524_*525del) c.*750_*751del (n.*750_*751del) c.*956_*957del (n.*956_*957del) n.2056_2057del n.2046_2047del | ClinVar dbSNP |
2 | g.47475249C>A | CA346728882 | MSH2 | c.1984C>A (p.Gln662Lys) c.1786C>A (p.Gln596Lys) c.*284C>A (n.*284C>A) c.*380C>A (n.*380C>A) c.*524C>A (n.*524C>A) c.*750C>A (n.*750C>A) c.*956C>A (n.*956C>A) n.2056C>A n.2046C>A | dbSNP |
2 | g.47475249C= | CA2495872583 | MSH2 | c.1984C= (p.Gln662=) c.1786C= (p.Gln596=) c.*284C= (n.*284C=) c.*380C= (n.*380C=) c.*524C= (n.*524C=) c.*750C= (n.*750C=) c.*956C= (n.*956C=) n.2056C= n.2046C= | |
2 | g.47475249C>G | CA346728884 | MSH2 | c.1984C>G (p.Gln662Glu) c.1786C>G (p.Gln596Glu) c.*284C>G (n.*284C>G) c.*380C>G (n.*380C>G) c.*524C>G (n.*524C>G) c.*750C>G (n.*750C>G) c.*956C>G (n.*956C>G) n.2056C>G n.2046C>G | ClinVar dbSNP |
2 | g.47475249C>T | CA019647 | MSH2 | c.1984C>T (p.Gln662Ter) c.1786C>T (p.Gln596Ter) c.*284C>T (n.*284C>T) c.*380C>T (n.*380C>T) c.*524C>T (n.*524C>T) c.*750C>T (n.*750C>T) c.*956C>T (n.*956C>T) n.2056C>T n.2046C>T | ClinVar dbSNP |
2 | g.47475249_47475251delinsCAG | CA2495872584 | MSH2 | c.1984_1986delinsCAG (p.Gln662=) c.1786_1788delinsCAG (p.Gln596=) c.*284_*286delinsCAG (n.*284_*286delinsCAG) c.*380_*382delinsCAG (n.*380_*382delinsCAG) c.*524_*526delinsCAG (n.*524_*526delinsCAG) c.*750_*752delinsCAG (n.*750_*752delinsCAG) c.*956_*958delinsCAG (n.*956_*958delinsCAG) n.2056_2058delinsCAG n.2046_2048delinsCAG | |
2 | g.47475250A>C | CA346728886 | MSH2 | c.1985A>C (p.Gln662Pro) c.1787A>C (p.Gln596Pro) c.*285A>C (n.*285A>C) c.*381A>C (n.*381A>C) c.*525A>C (n.*525A>C) c.*751A>C (n.*751A>C) c.*957A>C (n.*957A>C) n.2057A>C n.2047A>C | ClinVar |
2 | g.47475250A>G | CA346728887 | MSH2 | c.1985A>G (p.Gln662Arg) c.1787A>G (p.Gln596Arg) c.*285A>G (n.*285A>G) c.*381A>G (n.*381A>G) c.*525A>G (n.*525A>G) c.*751A>G (n.*751A>G) c.*957A>G (n.*957A>G) n.2057A>G n.2047A>G | ClinVar |
2 | g.47475250A>T | CA346728888 | MSH2 | c.1985A>T (p.Gln662Leu) c.1787A>T (p.Gln596Leu) c.*285A>T (n.*285A>T) c.*381A>T (n.*381A>T) c.*525A>T (n.*525A>T) c.*751A>T (n.*751A>T) c.*957A>T (n.*957A>T) n.2057A>T n.2047A>T | dbSNP |
2 | g.47475250dup | CA915943831 | MSH2 | c.1985dup (p.Met663AspfsTer13) c.1787dup (p.Met597AspfsTer13) c.*285dup (n.*285dup) c.*381dup (n.*381dup) c.*525dup (n.*525dup) c.*751dup (n.*751dup) c.*957dup (n.*957dup) n.2057dup n.2047dup | ClinVar dbSNP |
2 | g.47475250_47475251delinsAG | CA2495872585 | MSH2 | c.1985_1986delinsAG (p.Gln662=) c.1787_1788delinsAG (p.Gln596=) c.*285_*286delinsAG (n.*285_*286delinsAG) c.*381_*382delinsAG (n.*381_*382delinsAG) c.*525_*526delinsAG (n.*525_*526delinsAG) c.*751_*752delinsAG (n.*751_*752delinsAG) c.*957_*958delinsAG (n.*957_*958delinsAG) n.2057_2058delinsAG n.2047_2048delinsAG | |
2 | g.47475251_47475252del | CA019651 | MSH2 | c.1986_1987del (p.Gln662HisfsTer13) c.1788_1789del (p.Gln596HisfsTer13) c.*286_*287del (n.*286_*287del) c.*382_*383del (n.*382_*383del) c.*526_*527del (n.*526_*527del) c.*752_*753del (n.*752_*753del) c.*958_*959del (n.*958_*959del) n.2058_2059del n.2048_2049del | ClinVar dbSNP gnomAD v4 |
2 | g.47475251del | CA019657 | MSH2 | c.1986del (p.Met663CysfsTer22) c.1788del (p.Met597CysfsTer22) c.*286del (n.*286del) c.*382del (n.*382del) c.*526del (n.*526del) c.*752del (n.*752del) c.*958del (n.*958del) n.2058del n.2048del | ClinVar dbSNP |
2 | g.47475251G>A | CA032242 | MSH2 | c.1986G>A (p.Gln662=) c.1788G>A (p.Gln596=) c.*286G>A (n.*286G>A) c.*382G>A (n.*382G>A) c.*526G>A (n.*526G>A) c.*752G>A (n.*752G>A) c.*958G>A (n.*958G>A) n.2058G>A n.2048G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475251G>C | CA019664 | MSH2 | c.1986G>C (p.Gln662His) c.1788G>C (p.Gln596His) c.*286G>C (n.*286G>C) c.*382G>C (n.*382G>C) c.*526G>C (n.*526G>C) c.*752G>C (n.*752G>C) c.*958G>C (n.*958G>C) n.2058G>C n.2048G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475251G= | CA2495872586 | MSH2 | c.1986G= (p.Gln662=) c.1788G= (p.Gln596=) c.*286G= (n.*286G=) c.*382G= (n.*382G=) c.*526G= (n.*526G=) c.*752G= (n.*752G=) c.*958G= (n.*958G=) n.2058G= n.2048G= | |
2 | g.47475251G>T | CA346728893 | MSH2 | c.1986G>T (p.Gln662His) c.1788G>T (p.Gln596His) c.*286G>T (n.*286G>T) c.*382G>T (n.*382G>T) c.*526G>T (n.*526G>T) c.*752G>T (n.*752G>T) c.*958G>T (n.*958G>T) n.2058G>T n.2048G>T | ClinVar dbSNP |
2 | g.47475251_47475252delinsAG | CA46700668 | MSH2 | c.1986_1987delinsAG (p.Met663Val) c.1788_1789delinsAG (p.Met597Val) c.*286_*287delinsAG (n.*286_*287delinsAG) c.*382_*383delinsAG (n.*382_*383delinsAG) c.*526_*527delinsAG (n.*526_*527delinsAG) c.*752_*753delinsAG (n.*752_*753delinsAG) c.*958_*959delinsAG (n.*958_*959delinsAG) n.2058_2059delinsAG n.2048_2049delinsAG | |
2 | g.47475252A= | CA2495872587 | MSH2 | c.1987A= (p.Met663=) c.1789A= (p.Met597=) c.*287A= (n.*287A=) c.*383A= (n.*383A=) c.*527A= (n.*527A=) c.*753A= (n.*753A=) c.*959A= (n.*959A=) n.2059A= n.2049A= | |
2 | g.47475252A>C | CA346728896 | MSH2 | c.1987A>C (p.Met663Leu) c.1789A>C (p.Met597Leu) c.*287A>C (n.*287A>C) c.*383A>C (n.*383A>C) c.*527A>C (n.*527A>C) c.*753A>C (n.*753A>C) c.*959A>C (n.*959A>C) n.2059A>C n.2049A>C | |
2 | g.47475252A>G | CA032274 | MSH2 | c.1987A>G (p.Met663Val) c.1789A>G (p.Met597Val) c.*287A>G (n.*287A>G) c.*383A>G (n.*383A>G) c.*527A>G (n.*527A>G) c.*753A>G (n.*753A>G) c.*959A>G (n.*959A>G) n.2059A>G n.2049A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475252A>T | CA032288 | MSH2 | c.1987A>T (p.Met663Leu) c.1789A>T (p.Met597Leu) c.*287A>T (n.*287A>T) c.*383A>T (n.*383A>T) c.*527A>T (n.*527A>T) c.*753A>T (n.*753A>T) c.*959A>T (n.*959A>T) n.2059A>T n.2049A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475252delinsTG | CA658760404 | MSH2 | c.1987delinsTG (p.Met663CysfsTer13) c.1789delinsTG (p.Met597CysfsTer13) c.*287delinsTG (n.*287delinsTG) c.*383delinsTG (n.*383delinsTG) c.*527delinsTG (n.*527delinsTG) c.*753delinsTG (n.*753delinsTG) c.*959delinsTG (n.*959delinsTG) n.2059delinsTG n.2049delinsTG | |
2 | g.47475253T>A | CA346728900 | MSH2 | c.1988T>A (p.Met663Lys) c.1790T>A (p.Met597Lys) c.*288T>A (n.*288T>A) c.*384T>A (n.*384T>A) c.*528T>A (n.*528T>A) c.*754T>A (n.*754T>A) c.*960T>A (n.*960T>A) n.2060T>A n.2050T>A | dbSNP |
2 | g.47475253T>C | CA346728902 | MSH2 | c.1988T>C (p.Met663Thr) c.1790T>C (p.Met597Thr) c.*288T>C (n.*288T>C) c.*384T>C (n.*384T>C) c.*528T>C (n.*528T>C) c.*754T>C (n.*754T>C) c.*960T>C (n.*960T>C) n.2060T>C n.2050T>C | |
2 | g.47475253T>G | CA346728903 | MSH2 | c.1988T>G (p.Met663Arg) c.1790T>G (p.Met597Arg) c.*288T>G (n.*288T>G) c.*384T>G (n.*384T>G) c.*528T>G (n.*528T>G) c.*754T>G (n.*754T>G) c.*960T>G (n.*960T>G) n.2060T>G n.2050T>G | dbSNP |
2 | g.47475253_47475254delinsTG | CA2495872588 | MSH2 | c.1988_1989delinsTG (p.Met663=) c.1790_1791delinsTG (p.Met597=) c.*288_*289delinsTG (n.*288_*289delinsTG) c.*384_*385delinsTG (n.*384_*385delinsTG) c.*528_*529delinsTG (n.*528_*529delinsTG) c.*754_*755delinsTG (n.*754_*755delinsTG) c.*960_*961delinsTG (n.*960_*961delinsTG) n.2060_2061delinsTG n.2050_2051delinsTG | |
2 | g.47475254del | CA913189960 | MSH2 | c.1989del (p.Met663IlefsTer22) c.1791del (p.Met597IlefsTer22) c.*289del (n.*289del) c.*385del (n.*385del) c.*529del (n.*529del) c.*755del (n.*755del) c.*961del (n.*961del) n.2061del n.2051del | ClinVar dbSNP |
2 | g.47475254G>A | CA338389 | MSH2 | c.1989G>A (p.Met663Ile) c.1791G>A (p.Met597Ile) c.*289G>A (n.*289G>A) c.*385G>A (n.*385G>A) c.*529G>A (n.*529G>A) c.*755G>A (n.*755G>A) c.*961G>A (n.*961G>A) n.2061G>A n.2051G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475254G>C | CA346728905 | MSH2 | c.1989G>C (p.Met663Ile) c.1791G>C (p.Met597Ile) c.*289G>C (n.*289G>C) c.*385G>C (n.*385G>C) c.*529G>C (n.*529G>C) c.*755G>C (n.*755G>C) c.*961G>C (n.*961G>C) n.2061G>C n.2051G>C | dbSNP |
2 | g.47475254G= | CA2495872589 | MSH2 | c.1989G= (p.Met663=) c.1791G= (p.Met597=) c.*289G= (n.*289G=) c.*385G= (n.*385G=) c.*529G= (n.*529G=) c.*755G= (n.*755G=) c.*961G= (n.*961G=) n.2061G= n.2051G= | |
2 | g.47475254G>T | CA346728907 | MSH2 | c.1989G>T (p.Met663Ile) c.1791G>T (p.Met597Ile) c.*289G>T (n.*289G>T) c.*385G>T (n.*385G>T) c.*529G>T (n.*529G>T) c.*755G>T (n.*755G>T) c.*961G>T (n.*961G>T) n.2061G>T n.2051G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475254_47475259delinsAAAC | CA2825001148 | MSH2 | c.1989_1994delinsAAAC (p.Met663IlefsTer12) c.1791_1796delinsAAAC (p.Met597IlefsTer12) c.*289_*294delinsAAAC (n.*289_*294delinsAAAC) c.*385_*390delinsAAAC (n.*385_*390delinsAAAC) c.*529_*534delinsAAAC (n.*529_*534delinsAAAC) c.*755_*760delinsAAAC (n.*755_*760delinsAAAC) c.*961_*966delinsAAAC (n.*961_*966delinsAAAC) n.2061_2066delinsAAAC n.2051_2056delinsAAAC | ClinVar |
2 | g.47475255T>A | CA346728912 | MSH2 | c.1990T>A (p.Phe664Ile) c.1792T>A (p.Phe598Ile) c.*290T>A (n.*290T>A) c.*386T>A (n.*386T>A) c.*530T>A (n.*530T>A) c.*756T>A (n.*756T>A) c.*962T>A (n.*962T>A) n.2062T>A n.2052T>A | dbSNP |
2 | g.47475255T>C | CA346728911 | MSH2 | c.1990T>C (p.Phe664Leu) c.1792T>C (p.Phe598Leu) c.*290T>C (n.*290T>C) c.*386T>C (n.*386T>C) c.*530T>C (n.*530T>C) c.*756T>C (n.*756T>C) c.*962T>C (n.*962T>C) n.2062T>C n.2052T>C | |
2 | g.47475255T>G | CA346728909 | MSH2 | c.1990T>G (p.Phe664Val) c.1792T>G (p.Phe598Val) c.*290T>G (n.*290T>G) c.*386T>G (n.*386T>G) c.*530T>G (n.*530T>G) c.*756T>G (n.*756T>G) c.*962T>G (n.*962T>G) n.2062T>G n.2052T>G | |
2 | g.47475256T>A | CA346728917 | MSH2 | c.1991T>A (p.Phe664Tyr) c.1793T>A (p.Phe598Tyr) c.*291T>A (n.*291T>A) c.*387T>A (n.*387T>A) c.*531T>A (n.*531T>A) c.*757T>A (n.*757T>A) c.*963T>A (n.*963T>A) n.2063T>A n.2053T>A | |
2 | g.47475256T>C | CA346728913 | MSH2 | c.1991T>C (p.Phe664Ser) c.1793T>C (p.Phe598Ser) c.*291T>C (n.*291T>C) c.*387T>C (n.*387T>C) c.*531T>C (n.*531T>C) c.*757T>C (n.*757T>C) c.*963T>C (n.*963T>C) n.2063T>C n.2053T>C | |
2 | g.47475256T>G | CA346728915 | MSH2 | c.1991T>G (p.Phe664Cys) c.1793T>G (p.Phe598Cys) c.*291T>G (n.*291T>G) c.*387T>G (n.*387T>G) c.*531T>G (n.*531T>G) c.*757T>G (n.*757T>G) c.*963T>G (n.*963T>G) n.2063T>G n.2053T>G | |
2 | g.47475256_47475257delinsTC | CA2495872590 | MSH2 | c.1991_1992delinsTC (p.Phe664=) c.1793_1794delinsTC (p.Phe598=) c.*291_*292delinsTC (n.*291_*292delinsTC) c.*387_*388delinsTC (n.*387_*388delinsTC) c.*531_*532delinsTC (n.*531_*532delinsTC) c.*757_*758delinsTC (n.*757_*758delinsTC) c.*963_*964delinsTC (n.*963_*964delinsTC) n.2063_2064delinsTC n.2053_2054delinsTC | |
2 | g.47475257C>A | CA346728918 | MSH2 | c.1992C>A (p.Phe664Leu) c.1794C>A (p.Phe598Leu) c.*292C>A (n.*292C>A) c.*388C>A (n.*388C>A) c.*532C>A (n.*532C>A) c.*758C>A (n.*758C>A) c.*964C>A (n.*964C>A) n.2064C>A n.2054C>A | |
2 | g.47475257C= | CA2495872591 | MSH2 | c.1992C= (p.Phe664=) c.1794C= (p.Phe598=) c.*292C= (n.*292C=) c.*388C= (n.*388C=) c.*532C= (n.*532C=) c.*758C= (n.*758C=) c.*964C= (n.*964C=) n.2064C= n.2054C= | |
2 | g.47475257C>G | CA346728919 | MSH2 | c.1992C>G (p.Phe664Leu) c.1794C>G (p.Phe598Leu) c.*292C>G (n.*292C>G) c.*388C>G (n.*388C>G) c.*532C>G (n.*532C>G) c.*758C>G (n.*758C>G) c.*964C>G (n.*964C>G) n.2064C>G n.2054C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47475257C>T | CA032326 | MSH2 | c.1992C>T (p.Phe664=) c.1794C>T (p.Phe598=) c.*292C>T (n.*292C>T) c.*388C>T (n.*388C>T) c.*532C>T (n.*532C>T) c.*758C>T (n.*758C>T) c.*964C>T (n.*964C>T) n.2064C>T n.2054C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475258del | CA1139655603 | MSH2 | c.1993del (p.His665ThrfsTer20) c.1795del (p.His599ThrfsTer20) c.*293del (n.*293del) c.*389del (n.*389del) c.*533del (n.*533del) c.*759del (n.*759del) c.*965del (n.*965del) n.2065del n.2055del | ClinVar dbSNP |
2 | g.47475258C>A | CA346728922 | MSH2 | c.1993C>A (p.His665Asn) c.1795C>A (p.His599Asn) c.*293C>A (n.*293C>A) c.*389C>A (n.*389C>A) c.*533C>A (n.*533C>A) c.*759C>A (n.*759C>A) c.*965C>A (n.*965C>A) n.2065C>A n.2055C>A | dbSNP |
2 | g.47475258C= | CA2495872592 | MSH2 | c.1993C= (p.His665=) c.1795C= (p.His599=) c.*293C= (n.*293C=) c.*389C= (n.*389C=) c.*533C= (n.*533C=) c.*759C= (n.*759C=) c.*965C= (n.*965C=) n.2065C= n.2055C= | |
2 | g.47475258C>G | CA346728924 | MSH2 | c.1993C>G (p.His665Asp) c.1795C>G (p.His599Asp) c.*293C>G (n.*293C>G) c.*389C>G (n.*389C>G) c.*533C>G (n.*533C>G) c.*759C>G (n.*759C>G) c.*965C>G (n.*965C>G) n.2065C>G n.2055C>G | dbSNP |
2 | g.47475258C>T | CA346728925 | MSH2 | c.1993C>T (p.His665Tyr) c.1795C>T (p.His599Tyr) c.*293C>T (n.*293C>T) c.*389C>T (n.*389C>T) c.*533C>T (n.*533C>T) c.*759C>T (n.*759C>T) c.*965C>T (n.*965C>T) n.2065C>T n.2055C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47475259A>C | CA346728927 | MSH2 | c.1994A>C (p.His665Pro) c.1796A>C (p.His599Pro) c.*294A>C (n.*294A>C) c.*390A>C (n.*390A>C) c.*534A>C (n.*534A>C) c.*760A>C (n.*760A>C) c.*966A>C (n.*966A>C) n.2066A>C n.2056A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47475259A>G | CA346728929 | MSH2 | c.1994A>G (p.His665Arg) c.1796A>G (p.His599Arg) c.*294A>G (n.*294A>G) c.*390A>G (n.*390A>G) c.*534A>G (n.*534A>G) c.*760A>G (n.*760A>G) c.*966A>G (n.*966A>G) n.2066A>G n.2056A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47475259A>T | CA346728930 | MSH2 | c.1994A>T (p.His665Leu) c.1796A>T (p.His599Leu) c.*294A>T (n.*294A>T) c.*390A>T (n.*390A>T) c.*534A>T (n.*534A>T) c.*760A>T (n.*760A>T) c.*966A>T (n.*966A>T) n.2066A>T n.2056A>T | dbSNP gnomAD v4 |
2 | g.47475260C>A | CA346728932 | MSH2 | c.1995C>A (p.His665Gln) c.1797C>A (p.His599Gln) c.*295C>A (n.*295C>A) c.*391C>A (n.*391C>A) c.*535C>A (n.*535C>A) c.*761C>A (n.*761C>A) c.*967C>A (n.*967C>A) n.2067C>A n.2057C>A | dbSNP gnomAD v4 |
2 | g.47475260C= | CA2495872594 | MSH2 | c.1995C= (p.His665=) c.1797C= (p.His599=) c.*295C= (n.*295C=) c.*391C= (n.*391C=) c.*535C= (n.*535C=) c.*761C= (n.*761C=) c.*967C= (n.*967C=) n.2067C= n.2057C= | |
2 | g.47475260C>G | CA346728934 | MSH2 | c.1995C>G (p.His665Gln) c.1797C>G (p.His599Gln) c.*295C>G (n.*295C>G) c.*391C>G (n.*391C>G) c.*535C>G (n.*535C>G) c.*761C>G (n.*761C>G) c.*967C>G (n.*967C>G) n.2067C>G n.2057C>G | ClinVar dbSNP gnomAD v4 |
2 | g.47475260C>T | CA426119776 | MSH2 | c.1995C>T (p.His665=) c.1797C>T (p.His599=) c.*295C>T (n.*295C>T) c.*391C>T (n.*391C>T) c.*535C>T (n.*535C>T) c.*761C>T (n.*761C>T) c.*967C>T (n.*967C>T) n.2067C>T n.2057C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47475260_47475262delinsCAT | CA2495872593 | MSH2 | c.1995_1997delinsCAT (p.His665=) c.1797_1799delinsCAT (p.His599=) c.*295_*297delinsCAT (n.*295_*297delinsCAT) c.*391_*393delinsCAT (n.*391_*393delinsCAT) c.*535_*537delinsCAT (n.*535_*537delinsCAT) c.*761_*763delinsCAT (n.*761_*763delinsCAT) c.*967_*969delinsCAT (n.*967_*969delinsCAT) n.2067_2069delinsCAT n.2057_2059delinsCAT | |
2 | g.47475261A= | CA2495872595 | MSH2 | c.1996A= (p.Ile666=) c.1798A= (p.Ile600=) c.*296A= (n.*296A=) c.*392A= (n.*392A=) c.*536A= (n.*536A=) c.*762A= (n.*762A=) c.*968A= (n.*968A=) n.2068A= n.2058A= | |
2 | g.47475261A>C | CA346728940 | MSH2 | c.1996A>C (p.Ile666Leu) c.1798A>C (p.Ile600Leu) c.*296A>C (n.*296A>C) c.*392A>C (n.*392A>C) c.*536A>C (n.*536A>C) c.*762A>C (n.*762A>C) c.*968A>C (n.*968A>C) n.2068A>C n.2058A>C | |
2 | g.47475261A>G | CA346728936 | MSH2 | c.1996A>G (p.Ile666Val) c.1798A>G (p.Ile600Val) c.*296A>G (n.*296A>G) c.*392A>G (n.*392A>G) c.*536A>G (n.*536A>G) c.*762A>G (n.*762A>G) c.*968A>G (n.*968A>G) n.2068A>G n.2058A>G | ClinVar dbSNP |
2 | g.47475261A>T | CA346728938 | MSH2 | c.1996A>T (p.Ile666Phe) c.1798A>T (p.Ile600Phe) c.*296A>T (n.*296A>T) c.*392A>T (n.*392A>T) c.*536A>T (n.*536A>T) c.*762A>T (n.*762A>T) c.*968A>T (n.*968A>T) n.2068A>T n.2058A>T | dbSNP |
2 | g.47475261_47475262del | CA019677 | MSH2 | c.1996_1997del (p.Ile666HisfsTer9) c.1798_1799del (p.Ile600HisfsTer9) c.*296_*297del (n.*296_*297del) c.*392_*393del (n.*392_*393del) c.*536_*537del (n.*536_*537del) c.*762_*763del (n.*762_*763del) c.*968_*969del (n.*968_*969del) n.2068_2069del n.2058_2059del | ClinVar dbSNP |
2 | g.47475262_47475274del | CA2580067091 | MSH2 | c.1997_2005+4del c.1799_1807+4del c.*297_*305+4del c.*393_*401+4del c.*537_*545+4del c.*763_*771+4del c.*969_*977+4del n.2069_2077+4del n.2059_2067+4del | ClinVar |
2 | g.47475262del | CA2580067093 | MSH2 | c.1997del (p.Ile666ThrfsTer19) c.1799del (p.Ile600ThrfsTer19) c.*297del (n.*297del) c.*393del (n.*393del) c.*537del (n.*537del) c.*763del (n.*763del) c.*969del (n.*969del) n.2069del n.2059del | ClinVar |
2 | g.47475262T>A | CA346728941 | MSH2 | c.1997T>A (p.Ile666Asn) c.1799T>A (p.Ile600Asn) c.*297T>A (n.*297T>A) c.*393T>A (n.*393T>A) c.*537T>A (n.*537T>A) c.*763T>A (n.*763T>A) c.*969T>A (n.*969T>A) n.2069T>A n.2059T>A | dbSNP |
2 | g.47475262T>C | CA346728942 | MSH2 | c.1997T>C (p.Ile666Thr) c.1799T>C (p.Ile600Thr) c.*297T>C (n.*297T>C) c.*393T>C (n.*393T>C) c.*537T>C (n.*537T>C) c.*763T>C (n.*763T>C) c.*969T>C (n.*969T>C) n.2069T>C n.2059T>C | ClinVar |
2 | g.47475262T>G | CA346728943 | MSH2 | c.1997T>G (p.Ile666Ser) c.1799T>G (p.Ile600Ser) c.*297T>G (n.*297T>G) c.*393T>G (n.*393T>G) c.*537T>G (n.*537T>G) c.*763T>G (n.*763T>G) c.*969T>G (n.*969T>G) n.2069T>G n.2059T>G | |
2 | g.47475262T= | CA2495872596 | MSH2 | c.1997T= (p.Ile666=) c.1799T= (p.Ile600=) c.*297T= (n.*297T=) c.*393T= (n.*393T=) c.*537T= (n.*537T=) c.*763T= (n.*763T=) c.*969T= (n.*969T=) n.2069T= n.2059T= | |
2 | g.47475263_47475281del | CA2580067094 | MSH2 | c.1998_2005+11del c.1800_1807+11del c.*298_*305+11del c.*394_*401+11del c.*538_*545+11del c.*764_*771+11del c.*970_*977+11del n.2070_2077+11del n.2060_2067+11del | ClinVar |
2 | g.47475263C>A | CA426119777 | MSH2 | c.1998C>A (p.Ile666=) c.1800C>A (p.Ile600=) c.*298C>A (n.*298C>A) c.*394C>A (n.*394C>A) c.*538C>A (n.*538C>A) c.*764C>A (n.*764C>A) c.*970C>A (n.*970C>A) n.2070C>A n.2060C>A | ClinVar dbSNP gnomAD v4 |
2 | g.47475263C= | CA2495872597 | MSH2 | c.1998C= (p.Ile666=) c.1800C= (p.Ile600=) c.*298C= (n.*298C=) c.*394C= (n.*394C=) c.*538C= (n.*538C=) c.*764C= (n.*764C=) c.*970C= (n.*970C=) n.2070C= n.2060C= | |
2 | g.47475263C>G | CA346728945 | MSH2 | c.1998C>G (p.Ile666Met) c.1800C>G (p.Ile600Met) c.*298C>G (n.*298C>G) c.*394C>G (n.*394C>G) c.*538C>G (n.*538C>G) c.*764C>G (n.*764C>G) c.*970C>G (n.*970C>G) n.2070C>G n.2060C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475263C>T | CA426119778 | MSH2 | c.1998C>T (p.Ile666=) c.1800C>T (p.Ile600=) c.*298C>T (n.*298C>T) c.*394C>T (n.*394C>T) c.*538C>T (n.*538C>T) c.*764C>T (n.*764C>T) c.*970C>T (n.*970C>T) n.2070C>T n.2060C>T | ClinVar dbSNP COSMIC |
2 | g.47475263_47475264dup | CA2580067096 | MSH2 | c.1998_1999dup (p.Ile667ThrfsTer19) c.1800_1801dup (p.Ile601ThrfsTer19) c.*298_*299dup (n.*298_*299dup) c.*394_*395dup (n.*394_*395dup) c.*538_*539dup (n.*538_*539dup) c.*764_*765dup (n.*764_*765dup) c.*970_*971dup (n.*970_*971dup) n.2070_2071dup n.2060_2061dup | ClinVar |
2 | g.47475264A= | CA2495872598 | MSH2 | c.1999A= (p.Ile667=) c.1801A= (p.Ile601=) c.*299A= (n.*299A=) c.*395A= (n.*395A=) c.*539A= (n.*539A=) c.*765A= (n.*765A=) c.*971A= (n.*971A=) n.2071A= n.2061A= | |
2 | g.47475264A>C | CA346728947 | MSH2 | c.1999A>C (p.Ile667Leu) c.1801A>C (p.Ile601Leu) c.*299A>C (n.*299A>C) c.*395A>C (n.*395A>C) c.*539A>C (n.*539A>C) c.*765A>C (n.*765A>C) c.*971A>C (n.*971A>C) n.2071A>C n.2061A>C | dbSNP |
2 | g.47475264A>G | CA10577992 | MSH2 | c.1999A>G (p.Ile667Val) c.1801A>G (p.Ile601Val) c.*299A>G (n.*299A>G) c.*395A>G (n.*395A>G) c.*539A>G (n.*539A>G) c.*765A>G (n.*765A>G) c.*971A>G (n.*971A>G) n.2071A>G n.2061A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475264A>T | CA346728948 | MSH2 | c.1999A>T (p.Ile667Phe) c.1801A>T (p.Ile601Phe) c.*299A>T (n.*299A>T) c.*395A>T (n.*395A>T) c.*539A>T (n.*539A>T) c.*765A>T (n.*765A>T) c.*971A>T (n.*971A>T) n.2071A>T n.2061A>T | |
2 | g.47475264_47475265delinsGG | CA658760405 | MSH2 | c.1999_2000delinsGG (p.Ile667Gly) c.1801_1802delinsGG (p.Ile601Gly) c.*299_*300delinsGG (n.*299_*300delinsGG) c.*395_*396delinsGG (n.*395_*396delinsGG) c.*539_*540delinsGG (n.*539_*540delinsGG) c.*765_*766delinsGG (n.*765_*766delinsGG) c.*971_*972delinsGG (n.*971_*972delinsGG) n.2071_2072delinsGG n.2061_2062delinsGG | |
2 | g.47475265T>A | CA346728949 | MSH2 | c.2000T>A (p.Ile667Asn) c.1802T>A (p.Ile601Asn) c.*300T>A (n.*300T>A) c.*396T>A (n.*396T>A) c.*540T>A (n.*540T>A) c.*766T>A (n.*766T>A) c.*972T>A (n.*972T>A) n.2072T>A n.2062T>A | |
2 | g.47475265T>C | CA346728951 | MSH2 | c.2000T>C (p.Ile667Thr) c.1802T>C (p.Ile601Thr) c.*300T>C (n.*300T>C) c.*396T>C (n.*396T>C) c.*540T>C (n.*540T>C) c.*766T>C (n.*766T>C) c.*972T>C (n.*972T>C) n.2072T>C n.2062T>C | ClinVar dbSNP |
2 | g.47475265T>G | CA346728952 | MSH2 | c.2000T>G (p.Ile667Ser) c.1802T>G (p.Ile601Ser) c.*300T>G (n.*300T>G) c.*396T>G (n.*396T>G) c.*540T>G (n.*540T>G) c.*766T>G (n.*766T>G) c.*972T>G (n.*972T>G) n.2072T>G n.2062T>G | |
2 | g.47475266dup | CA2580067098 | MSH2 | c.2001dup (p.Thr668TyrfsTer8) c.1803dup (p.Thr602TyrfsTer8) c.*301dup (n.*301dup) c.*397dup (n.*397dup) c.*541dup (n.*541dup) c.*767dup (n.*767dup) c.*973dup (n.*973dup) n.2073dup n.2063dup | ClinVar |
2 | g.47475266T>A | CA426119779 | MSH2 | c.2001T>A (p.Ile667=) c.1803T>A (p.Ile601=) c.*301T>A (n.*301T>A) c.*397T>A (n.*397T>A) c.*541T>A (n.*541T>A) c.*767T>A (n.*767T>A) c.*973T>A (n.*973T>A) n.2073T>A n.2063T>A | dbSNP |
2 | g.47475266T>C | CA426119780 | MSH2 | c.2001T>C (p.Ile667=) c.1803T>C (p.Ile601=) c.*301T>C (n.*301T>C) c.*397T>C (n.*397T>C) c.*541T>C (n.*541T>C) c.*767T>C (n.*767T>C) c.*973T>C (n.*973T>C) n.2073T>C n.2063T>C | |
2 | g.47475266T>G | CA346728955 | MSH2 | c.2001T>G (p.Ile667Met) c.1803T>G (p.Ile601Met) c.*301T>G (n.*301T>G) c.*397T>G (n.*397T>G) c.*541T>G (n.*541T>G) c.*767T>G (n.*767T>G) c.*973T>G (n.*973T>G) n.2073T>G n.2063T>G | ClinVar |
2 | g.47475267A= | CA2495872600 | MSH2 | c.2002A= (p.Thr668=) c.1804A= (p.Thr602=) c.*302A= (n.*302A=) c.*398A= (n.*398A=) c.*542A= (n.*542A=) c.*768A= (n.*768A=) c.*974A= (n.*974A=) n.2074A= n.2064A= | |
2 | g.47475267A>C | CA16617600 | MSH2 | c.2002A>C (p.Thr668Pro) c.1804A>C (p.Thr602Pro) c.*302A>C (n.*302A>C) c.*398A>C (n.*398A>C) c.*542A>C (n.*542A>C) c.*768A>C (n.*768A>C) c.*974A>C (n.*974A>C) n.2074A>C n.2064A>C | ClinVar dbSNP |
2 | g.47475267A>G | CA346728960 | MSH2 | c.2002A>G (p.Thr668Ala) c.1804A>G (p.Thr602Ala) c.*302A>G (n.*302A>G) c.*398A>G (n.*398A>G) c.*542A>G (n.*542A>G) c.*768A>G (n.*768A>G) c.*974A>G (n.*974A>G) n.2074A>G n.2064A>G | dbSNP |
2 | g.47475267A>T | CA346728957 | MSH2 | c.2002A>T (p.Thr668Ser) c.1804A>T (p.Thr602Ser) c.*302A>T (n.*302A>T) c.*398A>T (n.*398A>T) c.*542A>T (n.*542A>T) c.*768A>T (n.*768A>T) c.*974A>T (n.*974A>T) n.2074A>T n.2064A>T | dbSNP |
2 | g.47475267_47475268delinsAC | CA2495872601 | MSH2 | c.2002_2003delinsAC (p.Thr668=) c.1804_1805delinsAC (p.Thr602=) c.*302_*303delinsAC (n.*302_*303delinsAC) c.*398_*399delinsAC (n.*398_*399delinsAC) c.*542_*543delinsAC (n.*542_*543delinsAC) c.*768_*769delinsAC (n.*768_*769delinsAC) c.*974_*975delinsAC (n.*974_*975delinsAC) n.2074_2075delinsAC n.2064_2065delinsAC | |
2 | g.47475267_47475279delinsACTGGTAAAAAAC | CA2495872599 | MSH2 | c.2002_2005+9delinsACTGGTAAAAAAC c.1804_1807+9delinsACTGGTAAAAAAC c.*302_*305+9delinsACTGGTAAAAAAC c.*398_*401+9delinsACTGGTAAAAAAC c.*542_*545+9delinsACTGGTAAAAAAC c.*768_*771+9delinsACTGGTAAAAAAC c.*974_*977+9delinsACTGGTAAAAAAC n.2074_2077+9delinsACTGGTAAAAAAC n.2064_2067+9delinsACTGGTAAAAAAC | |
2 | g.47475268del | CA915943832 | MSH2 | c.2003del (p.Thr668MetfsTer17) c.1805del (p.Thr602MetfsTer17) c.*303del (n.*303del) c.*399del (n.*399del) c.*543del (n.*543del) c.*769del (n.*769del) c.*975del (n.*975del) n.2075del n.2065del | ClinVar dbSNP |
2 | g.47475268C>A | CA346728962 | MSH2 | c.2003C>A (p.Thr668Asn) c.1805C>A (p.Thr602Asn) c.*303C>A (n.*303C>A) c.*399C>A (n.*399C>A) c.*543C>A (n.*543C>A) c.*769C>A (n.*769C>A) c.*975C>A (n.*975C>A) n.2075C>A n.2065C>A | dbSNP |
2 | g.47475268C= | CA2495872603 | MSH2 | c.2003C= (p.Thr668=) c.1805C= (p.Thr602=) c.*303C= (n.*303C=) c.*399C= (n.*399C=) c.*543C= (n.*543C=) c.*769C= (n.*769C=) c.*975C= (n.*975C=) n.2075C= n.2065C= | |
2 | g.47475268C>G | CA346728964 | MSH2 | c.2003C>G (p.Thr668Ser) c.1805C>G (p.Thr602Ser) c.*303C>G (n.*303C>G) c.*399C>G (n.*399C>G) c.*543C>G (n.*543C>G) c.*769C>G (n.*769C>G) c.*975C>G (n.*975C>G) n.2075C>G n.2065C>G | ClinVar dbSNP |
2 | g.47475268C>T | CA346728965 | MSH2 | c.2003C>T (p.Thr668Ile) c.1805C>T (p.Thr602Ile) c.*303C>T (n.*303C>T) c.*399C>T (n.*399C>T) c.*543C>T (n.*543C>T) c.*769C>T (n.*769C>T) c.*975C>T (n.*975C>T) n.2075C>T n.2065C>T | ClinVar dbSNP |
2 | g.47475268dup | CA2573134873 | MSH2 | c.2003dup (p.Gly669TrpfsTer7) c.1805dup (p.Gly603TrpfsTer7) c.*303dup (n.*303dup) c.*399dup (n.*399dup) c.*543dup (n.*543dup) c.*769dup (n.*769dup) c.*975dup (n.*975dup) n.2075dup n.2065dup | dbSNP |
2 | g.47475268_47475269delinsCT | CA2495872602 | MSH2 | c.2003_2004delinsCT (p.Thr668=) c.1805_1806delinsCT (p.Thr602=) c.*303_*304delinsCT (n.*303_*304delinsCT) c.*399_*400delinsCT (n.*399_*400delinsCT) c.*543_*544delinsCT (n.*543_*544delinsCT) c.*769_*770delinsCT (n.*769_*770delinsCT) c.*975_*976delinsCT (n.*975_*976delinsCT) n.2075_2076delinsCT n.2065_2066delinsCT | |
2 | g.47475273_47475284del | CA210394 | MSH2 | c.2005+3_2005+14del c.1807+3_1807+14del c.*305+3_*305+14del c.*401+3_*401+14del c.*545+3_*545+14del c.*771+3_*771+14del c.*977+3_*977+14del n.2077+3_2077+14del n.2067+3_2067+14del | ClinVar dbSNP |
2 | g.47475269T>A | CA426119783 | MSH2 | c.2004T>A (p.Thr668=) c.1806T>A (p.Thr602=) c.*304T>A (n.*304T>A) c.*400T>A (n.*400T>A) c.*544T>A (n.*544T>A) c.*770T>A (n.*770T>A) c.*976T>A (n.*976T>A) n.2076T>A n.2066T>A | ClinVar dbSNP |
2 | g.47475269T>C | CA426119781 | MSH2 | c.2004T>C (p.Thr668=) c.1806T>C (p.Thr602=) c.*304T>C (n.*304T>C) c.*400T>C (n.*400T>C) c.*544T>C (n.*544T>C) c.*770T>C (n.*770T>C) c.*976T>C (n.*976T>C) n.2076T>C n.2066T>C | |
2 | g.47475269T>G | CA426119782 | MSH2 | c.2004T>G (p.Thr668=) c.1806T>G (p.Thr602=) c.*304T>G (n.*304T>G) c.*400T>G (n.*400T>G) c.*544T>G (n.*544T>G) c.*770T>G (n.*770T>G) c.*976T>G (n.*976T>G) n.2076T>G n.2066T>G | ClinVar |
2 | g.47475269T= | CA2495872604 | MSH2 | c.2004T= (p.Thr668=) c.1806T= (p.Thr602=) c.*304T= (n.*304T=) c.*400T= (n.*400T=) c.*544T= (n.*544T=) c.*770T= (n.*770T=) c.*976T= (n.*976T=) n.2076T= n.2066T= | |
2 | g.47475269delinsCA | CA10577993 | MSH2 | c.2004delinsCA (p.Gly669ArgfsTer7) c.1806delinsCA (p.Gly603ArgfsTer7) c.*304delinsCA (n.*304delinsCA) c.*400delinsCA (n.*400delinsCA) c.*544delinsCA (n.*544delinsCA) c.*770delinsCA (n.*770delinsCA) c.*976delinsCA (n.*976delinsCA) n.2076delinsCA n.2066delinsCA | ClinVar dbSNP |
2 | g.47475270G>A | CA46700757 | MSH2 | c.2005G>A (p.Gly669Ser) c.1807G>A (p.Gly603Ser) c.*305G>A (n.*305G>A) c.*401G>A (n.*401G>A) c.*545G>A (n.*545G>A) c.*771G>A (n.*771G>A) c.*977G>A (n.*977G>A) n.2077G>A n.2067G>A | dbSNP |
2 | g.47475270G>C | CA019736 | MSH2 | c.2005G>C (p.Gly669Arg) c.1807G>C (p.Gly603Arg) c.*305G>C (n.*305G>C) c.*401G>C (n.*401G>C) c.*545G>C (n.*545G>C) c.*771G>C (n.*771G>C) c.*977G>C (n.*977G>C) n.2077G>C n.2067G>C | ClinVar dbSNP |
2 | g.47475270G= | CA2495872606 | MSH2 | c.2005G= (p.Gly669=) c.1807G= (p.Gly603=) c.*305G= (n.*305G=) c.*401G= (n.*401G=) c.*545G= (n.*545G=) c.*771G= (n.*771G=) c.*977G= (n.*977G=) n.2077G= n.2067G= | |
2 | g.47475270G>T | CA346728968 | MSH2 | c.2005G>T (p.Gly669Cys) c.1807G>T (p.Gly603Cys) c.*305G>T (n.*305G>T) c.*401G>T (n.*401G>T) c.*545G>T (n.*545G>T) c.*771G>T (n.*771G>T) c.*977G>T (n.*977G>T) n.2077G>T n.2067G>T | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.47475271del | CA2586964837 | MSH2 | c.2005+1del c.1807+1del c.*305+1del c.*401+1del c.*545+1del c.*771+1del c.*977+1del n.2077+1del n.2067+1del | |
2 | g.47475270_47475281delinsGGTAAAAAACCT | CA2495872605 | MSH2 | c.2005_2005+11delinsGGTAAAAAACCT c.1807_1807+11delinsGGTAAAAAACCT c.*305_*305+11delinsGGTAAAAAACCT c.*401_*401+11delinsGGTAAAAAACCT c.*545_*545+11delinsGGTAAAAAACCT c.*771_*771+11delinsGGTAAAAAACCT c.*977_*977+11delinsGGTAAAAAACCT n.2077_2077+11delinsGGTAAAAAACCT n.2067_2067+11delinsGGTAAAAAACCT | |
2 | g.47475271G>A | CA019701 | MSH2 | c.2005+1G>A (n.2005+1G>A) c.1807+1G>A (n.1807+1G>A) c.*305+1G>A (n.*305+1G>A) c.*401+1G>A (n.*401+1G>A) c.*545+1G>A (n.*545+1G>A) c.*771+1G>A (n.*771+1G>A) c.*977+1G>A (n.*977+1G>A) n.2077+1G>A n.2067+1G>A | ClinVar dbSNP COSMIC |
2 | g.47475271G>C | CA019708 | MSH2 | c.2005+1G>C (n.2005+1G>C) c.1807+1G>C (n.1807+1G>C) c.*305+1G>C (n.*305+1G>C) c.*401+1G>C (n.*401+1G>C) c.*545+1G>C (n.*545+1G>C) c.*771+1G>C (n.*771+1G>C) c.*977+1G>C (n.*977+1G>C) n.2077+1G>C n.2067+1G>C | ClinVar dbSNP |
2 | g.47475271G= | CA2495872607 | MSH2 | c.2005+1G= (n.2005+1G=) c.1807+1G= (n.1807+1G=) c.*305+1G= (n.*305+1G=) c.*401+1G= (n.*401+1G=) c.*545+1G= (n.*545+1G=) c.*771+1G= (n.*771+1G=) c.*977+1G= (n.*977+1G=) n.2077+1G= n.2067+1G= | |
2 | g.47475271G>T | CA019713 | MSH2 | c.2005+1G>T (n.2005+1G>T) c.1807+1G>T (n.1807+1G>T) c.*305+1G>T (n.*305+1G>T) c.*401+1G>T (n.*401+1G>T) c.*545+1G>T (n.*545+1G>T) c.*771+1G>T (n.*771+1G>T) c.*977+1G>T (n.*977+1G>T) n.2077+1G>T n.2067+1G>T | ClinVar dbSNP gnomAD v4 |
2 | g.47475271_47475272delinsGT | CA2495872608 | MSH2 | c.2005+1_2005+2delinsGT (n.2005+1_2005+2delinsGT) c.1807+1_1807+2delinsGT (n.1807+1_1807+2delinsGT) c.*305+1_*305+2delinsGT (n.*305+1_*305+2delinsGT) c.*401+1_*401+2delinsGT (n.*401+1_*401+2delinsGT) c.*545+1_*545+2delinsGT (n.*545+1_*545+2delinsGT) c.*771+1_*771+2delinsGT (n.*771+1_*771+2delinsGT) c.*977+1_*977+2delinsGT (n.*977+1_*977+2delinsGT) n.2077+1_2077+2delinsGT n.2067+1_2067+2delinsGT | |
2 | g.47475272_47475282del | CA331420 | MSH2 | c.2005+2_2005+12del (n.2005+2_2005+12del) c.1807+2_1807+12del (n.1807+2_1807+12del) c.*305+2_*305+12del (n.*305+2_*305+12del) c.*401+2_*401+12del (n.*401+2_*401+12del) c.*545+2_*545+12del (n.*545+2_*545+12del) c.*771+2_*771+12del (n.*771+2_*771+12del) c.*977+2_*977+12del (n.*977+2_*977+12del) n.2077+2_2077+12del n.2067+2_2067+12del | ClinVar dbSNP |
2 | g.47475272del | CA331421 | MSH2 | c.2005+2del (n.2005+2del) c.1807+2del (n.1807+2del) c.*305+2del (n.*305+2del) c.*401+2del (n.*401+2del) c.*545+2del (n.*545+2del) c.*771+2del (n.*771+2del) c.*977+2del (n.*977+2del) n.2077+2del n.2067+2del | ClinVar dbSNP |
2 | g.47475272T>A | CA346728974 | MSH2 | c.2005+2T>A (n.2005+2T>A) c.1807+2T>A (n.1807+2T>A) c.*305+2T>A (n.*305+2T>A) c.*401+2T>A (n.*401+2T>A) c.*545+2T>A (n.*545+2T>A) c.*771+2T>A (n.*771+2T>A) c.*977+2T>A (n.*977+2T>A) n.2077+2T>A n.2067+2T>A | ClinVar dbSNP |
2 | g.47475272T>C | CA019723 | MSH2 | c.2005+2T>C (n.2005+2T>C) c.1807+2T>C (n.1807+2T>C) c.*305+2T>C (n.*305+2T>C) c.*401+2T>C (n.*401+2T>C) c.*545+2T>C (n.*545+2T>C) c.*771+2T>C (n.*771+2T>C) c.*977+2T>C (n.*977+2T>C) n.2077+2T>C n.2067+2T>C | ClinVar dbSNP |
2 | g.47475272T>G | CA346728973 | MSH2 | c.2005+2T>G (n.2005+2T>G) c.1807+2T>G (n.1807+2T>G) c.*305+2T>G (n.*305+2T>G) c.*401+2T>G (n.*401+2T>G) c.*545+2T>G (n.*545+2T>G) c.*771+2T>G (n.*771+2T>G) c.*977+2T>G (n.*977+2T>G) n.2077+2T>G n.2067+2T>G | ClinVar dbSNP gnomAD v4 |
2 | g.47475272T= | CA2495872609 | MSH2 | c.2005+2T= (n.2005+2T=) c.1807+2T= (n.1807+2T=) c.*305+2T= (n.*305+2T=) c.*401+2T= (n.*401+2T=) c.*545+2T= (n.*545+2T=) c.*771+2T= (n.*771+2T=) c.*977+2T= (n.*977+2T=) n.2077+2T= n.2067+2T= | |
2 | g.47475272dup | CA248511 | MSH2 | c.2005+2dup (n.2005+2dup) c.1807+2dup (n.1807+2dup) c.*305+2dup (n.*305+2dup) c.*401+2dup (n.*401+2dup) c.*545+2dup (n.*545+2dup) c.*771+2dup (n.*771+2dup) c.*977+2dup (n.*977+2dup) n.2077+2dup n.2067+2dup | ClinVar dbSNP |
2 | g.47475272_47475273delinsTA | CA2495872610 | MSH2 | c.2005+2_2005+3delinsTA (n.2005+2_2005+3delinsTA) c.1807+2_1807+3delinsTA (n.1807+2_1807+3delinsTA) c.*305+2_*305+3delinsTA (n.*305+2_*305+3delinsTA) c.*401+2_*401+3delinsTA (n.*401+2_*401+3delinsTA) c.*545+2_*545+3delinsTA (n.*545+2_*545+3delinsTA) c.*771+2_*771+3delinsTA (n.*771+2_*771+3delinsTA) c.*977+2_*977+3delinsTA (n.*977+2_*977+3delinsTA) n.2077+2_2077+3delinsTA n.2067+2_2067+3delinsTA | |
2 | g.47475273_47475285del | CA2586964838 | MSH2 | c.2005+3_2005+15del (n.2005+3_2005+15del) c.1807+3_1807+15del (n.1807+3_1807+15del) c.*305+3_*305+15del (n.*305+3_*305+15del) c.*401+3_*401+15del (n.*401+3_*401+15del) c.*545+3_*545+15del (n.*545+3_*545+15del) c.*771+3_*771+15del (n.*771+3_*771+15del) c.*977+3_*977+15del (n.*977+3_*977+15del) n.2077+3_2077+15del n.2067+3_2067+15del | |
2 | g.47475273A= | CA2495872611 | MSH2 | c.2005+3A= (n.2005+3A=) c.1807+3A= (n.1807+3A=) c.*305+3A= (n.*305+3A=) c.*401+3A= (n.*401+3A=) c.*545+3A= (n.*545+3A=) c.*771+3A= (n.*771+3A=) c.*977+3A= (n.*977+3A=) n.2077+3A= n.2067+3A= | |
2 | g.47475273A>G | CA1139655605 | MSH2 | c.2005+3A>G (n.2005+3A>G) c.1807+3A>G (n.1807+3A>G) c.*305+3A>G (n.*305+3A>G) c.*401+3A>G (n.*401+3A>G) c.*545+3A>G (n.*545+3A>G) c.*771+3A>G (n.*771+3A>G) c.*977+3A>G (n.*977+3A>G) n.2077+3A>G n.2067+3A>G | ClinVar dbSNP gnomAD v4 |
2 | g.47475273A>T | CA16610817 | MSH2 | c.2005+3A>T (n.2005+3A>T) c.1807+3A>T (n.1807+3A>T) c.*305+3A>T (n.*305+3A>T) c.*401+3A>T (n.*401+3A>T) c.*545+3A>T (n.*545+3A>T) c.*771+3A>T (n.*771+3A>T) c.*977+3A>T (n.*977+3A>T) n.2077+3A>T n.2067+3A>T | ClinVar dbSNP |
2 | g.47475278dup | CA019730 | MSH2 | c.2005+8dup (n.2005+8dup) c.1807+8dup (n.1807+8dup) c.*305+8dup (n.*305+8dup) c.*401+8dup (n.*401+8dup) c.*545+8dup (n.*545+8dup) c.*771+8dup (n.*771+8dup) c.*977+8dup (n.*977+8dup) n.2077+8dup n.2067+8dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475277_47475278dup | CA2580067105 | MSH2 | c.2005+7_2005+8dup (n.2005+7_2005+8dup) c.1807+7_1807+8dup (n.1807+7_1807+8dup) c.*305+7_*305+8dup (n.*305+7_*305+8dup) c.*401+7_*401+8dup (n.*401+7_*401+8dup) c.*545+7_*545+8dup (n.*545+7_*545+8dup) c.*771+7_*771+8dup (n.*771+7_*771+8dup) c.*977+7_*977+8dup (n.*977+7_*977+8dup) n.2077+7_2077+8dup n.2067+7_2067+8dup | ClinVar |
2 | g.47475278del | CA532705079 | MSH2 | c.2005+8del (n.2005+8del) c.1807+8del (n.1807+8del) c.*305+8del (n.*305+8del) c.*401+8del (n.*401+8del) c.*545+8del (n.*545+8del) c.*771+8del (n.*771+8del) c.*977+8del (n.*977+8del) n.2077+8del n.2067+8del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475273_47475283del | CA2499216058 | MSH2 | c.2005+3_2005+13del (n.2005+3_2005+13del) c.1807+3_1807+13del (n.1807+3_1807+13del) c.*305+3_*305+13del (n.*305+3_*305+13del) c.*401+3_*401+13del (n.*401+3_*401+13del) c.*545+3_*545+13del (n.*545+3_*545+13del) c.*771+3_*771+13del (n.*771+3_*771+13del) c.*977+3_*977+13del (n.*977+3_*977+13del) n.2077+3_2077+13del n.2067+3_2067+13del | ClinVar dbSNP |
2 | g.47475274A= | CA2495872612 | MSH2 | c.2005+4A= (n.2005+4A=) c.1807+4A= (n.1807+4A=) c.*305+4A= (n.*305+4A=) c.*401+4A= (n.*401+4A=) c.*545+4A= (n.*545+4A=) c.*771+4A= (n.*771+4A=) c.*977+4A= (n.*977+4A=) n.2077+4A= n.2067+4A= | |
2 | g.47475274A>C | CA658655719 | MSH2 | c.2005+4A>C (n.2005+4A>C) c.1807+4A>C (n.1807+4A>C) c.*305+4A>C (n.*305+4A>C) c.*401+4A>C (n.*401+4A>C) c.*545+4A>C (n.*545+4A>C) c.*771+4A>C (n.*771+4A>C) c.*977+4A>C (n.*977+4A>C) n.2077+4A>C n.2067+4A>C | ClinVar dbSNP gnomAD v4 |
2 | g.47475274A>G | CA915943833 | MSH2 | c.2005+4A>G (n.2005+4A>G) c.1807+4A>G (n.1807+4A>G) c.*305+4A>G (n.*305+4A>G) c.*401+4A>G (n.*401+4A>G) c.*545+4A>G (n.*545+4A>G) c.*771+4A>G (n.*771+4A>G) c.*977+4A>G (n.*977+4A>G) n.2077+4A>G n.2067+4A>G | ClinVar dbSNP |
2 | g.47475274A>T | CA2699110295 | MSH2 | c.2005+4A>T (n.2005+4A>T) c.1807+4A>T (n.1807+4A>T) c.*305+4A>T (n.*305+4A>T) c.*401+4A>T (n.*401+4A>T) c.*545+4A>T (n.*545+4A>T) c.*771+4A>T (n.*771+4A>T) c.*977+4A>T (n.*977+4A>T) n.2077+4A>T n.2067+4A>T | dbSNP |
2 | g.47475275A>G | CA2699275890 | MSH2 | c.2005+5A>G (n.2005+5A>G) c.1807+5A>G (n.1807+5A>G) c.*305+5A>G (n.*305+5A>G) c.*401+5A>G (n.*401+5A>G) c.*545+5A>G (n.*545+5A>G) c.*771+5A>G (n.*771+5A>G) c.*977+5A>G (n.*977+5A>G) n.2077+5A>G n.2067+5A>G | dbSNP |
2 | g.47475276A= | CA2495872613 | MSH2 | c.2005+6A= (n.2005+6A=) c.1807+6A= (n.1807+6A=) c.*305+6A= (n.*305+6A=) c.*401+6A= (n.*401+6A=) c.*545+6A= (n.*545+6A=) c.*771+6A= (n.*771+6A=) c.*977+6A= (n.*977+6A=) n.2077+6A= n.2067+6A= | |
2 | g.47475276A>C | CA16610820 | MSH2 | c.2005+6A>C (n.2005+6A>C) c.1807+6A>C (n.1807+6A>C) c.*305+6A>C (n.*305+6A>C) c.*401+6A>C (n.*401+6A>C) c.*545+6A>C (n.*545+6A>C) c.*771+6A>C (n.*771+6A>C) c.*977+6A>C (n.*977+6A>C) n.2077+6A>C n.2067+6A>C | ClinVar dbSNP |
2 | g.47475276A>G | CA2699097843 | MSH2 | c.2005+6A>G (n.2005+6A>G) c.1807+6A>G (n.1807+6A>G) c.*305+6A>G (n.*305+6A>G) c.*401+6A>G (n.*401+6A>G) c.*545+6A>G (n.*545+6A>G) c.*771+6A>G (n.*771+6A>G) c.*977+6A>G (n.*977+6A>G) n.2077+6A>G n.2067+6A>G | dbSNP |
2 | g.47475277A= | CA2495872614 | MSH2 | c.2005+7A= (n.2005+7A=) c.1807+7A= (n.1807+7A=) c.*305+7A= (n.*305+7A=) c.*401+7A= (n.*401+7A=) c.*545+7A= (n.*545+7A=) c.*771+7A= (n.*771+7A=) c.*977+7A= (n.*977+7A=) n.2077+7A= n.2067+7A= | |
2 | g.47475277A>G | CA2699123904 | MSH2 | c.2005+7A>G (n.2005+7A>G) c.1807+7A>G (n.1807+7A>G) c.*305+7A>G (n.*305+7A>G) c.*401+7A>G (n.*401+7A>G) c.*545+7A>G (n.*545+7A>G) c.*771+7A>G (n.*771+7A>G) c.*977+7A>G (n.*977+7A>G) n.2077+7A>G n.2067+7A>G | dbSNP |
2 | g.47475277A>T | CA915943834 | MSH2 | c.2005+7A>T (n.2005+7A>T) c.1807+7A>T (n.1807+7A>T) c.*305+7A>T (n.*305+7A>T) c.*401+7A>T (n.*401+7A>T) c.*545+7A>T (n.*545+7A>T) c.*771+7A>T (n.*771+7A>T) c.*977+7A>T (n.*977+7A>T) n.2077+7A>T n.2067+7A>T | ClinVar dbSNP |
2 | g.47475278A= | CA2495872615 | MSH2 | c.2005+8A= (n.2005+8A=) c.1807+8A= (n.1807+8A=) c.*305+8A= (n.*305+8A=) c.*401+8A= (n.*401+8A=) c.*545+8A= (n.*545+8A=) c.*771+8A= (n.*771+8A=) c.*977+8A= (n.*977+8A=) n.2077+8A= n.2067+8A= | |
2 | g.47475278A>C | CA2699100961 | MSH2 | c.2005+8A>C (n.2005+8A>C) c.1807+8A>C (n.1807+8A>C) c.*305+8A>C (n.*305+8A>C) c.*401+8A>C (n.*401+8A>C) c.*545+8A>C (n.*545+8A>C) c.*771+8A>C (n.*771+8A>C) c.*977+8A>C (n.*977+8A>C) n.2077+8A>C n.2067+8A>C | dbSNP |
2 | g.47475278A>G | CA532705080 | MSH2 | c.2005+8A>G (n.2005+8A>G) c.1807+8A>G (n.1807+8A>G) c.*305+8A>G (n.*305+8A>G) c.*401+8A>G (n.*401+8A>G) c.*545+8A>G (n.*545+8A>G) c.*771+8A>G (n.*771+8A>G) c.*977+8A>G (n.*977+8A>G) n.2077+8A>G n.2067+8A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475278A>T | CA2699100960 | MSH2 | c.2005+8A>T (n.2005+8A>T) c.1807+8A>T (n.1807+8A>T) c.*305+8A>T (n.*305+8A>T) c.*401+8A>T (n.*401+8A>T) c.*545+8A>T (n.*545+8A>T) c.*771+8A>T (n.*771+8A>T) c.*977+8A>T (n.*977+8A>T) n.2077+8A>T n.2067+8A>T | dbSNP |
2 | g.47475278_47475279delinsAC | CA2495872616 | MSH2 | c.2005+8_2005+9delinsAC (n.2005+8_2005+9delinsAC) c.1807+8_1807+9delinsAC (n.1807+8_1807+9delinsAC) c.*305+8_*305+9delinsAC (n.*305+8_*305+9delinsAC) c.*401+8_*401+9delinsAC (n.*401+8_*401+9delinsAC) c.*545+8_*545+9delinsAC (n.*545+8_*545+9delinsAC) c.*771+8_*771+9delinsAC (n.*771+8_*771+9delinsAC) c.*977+8_*977+9delinsAC (n.*977+8_*977+9delinsAC) n.2077+8_2077+9delinsAC n.2067+8_2067+9delinsAC | |
2 | g.47475279C>A | CA2495872618 | MSH2 | c.2005+9C>A (n.2005+9C>A) c.1807+9C>A (n.1807+9C>A) c.*305+9C>A (n.*305+9C>A) c.*401+9C>A (n.*401+9C>A) c.*545+9C>A (n.*545+9C>A) c.*771+9C>A (n.*771+9C>A) c.*977+9C>A (n.*977+9C>A) n.2077+9C>A n.2067+9C>A | ClinVar dbSNP |
2 | g.47475279C= | CA2495872617 | MSH2 | c.2005+9C= (n.2005+9C=) c.1807+9C= (n.1807+9C=) c.*305+9C= (n.*305+9C=) c.*401+9C= (n.*401+9C=) c.*545+9C= (n.*545+9C=) c.*771+9C= (n.*771+9C=) c.*977+9C= (n.*977+9C=) n.2077+9C= n.2067+9C= | |
2 | g.47475279C>G | CA2697548054 | MSH2 | c.2005+9C>G (n.2005+9C>G) c.1807+9C>G (n.1807+9C>G) c.*305+9C>G (n.*305+9C>G) c.*401+9C>G (n.*401+9C>G) c.*545+9C>G (n.*545+9C>G) c.*771+9C>G (n.*771+9C>G) c.*977+9C>G (n.*977+9C>G) n.2077+9C>G n.2067+9C>G | ClinVar dbSNP |
2 | g.47475279C>T | CA2499216059 | MSH2 | c.2005+9C>T (n.2005+9C>T) c.1807+9C>T (n.1807+9C>T) c.*305+9C>T (n.*305+9C>T) c.*401+9C>T (n.*401+9C>T) c.*545+9C>T (n.*545+9C>T) c.*771+9C>T (n.*771+9C>T) c.*977+9C>T (n.*977+9C>T) n.2077+9C>T n.2067+9C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47475280del | CA769431786 | MSH2 | c.2005+10del (n.2005+10del) c.1807+10del (n.1807+10del) c.*305+10del (n.*305+10del) c.*401+10del (n.*401+10del) c.*545+10del (n.*545+10del) c.*771+10del (n.*771+10del) c.*977+10del (n.*977+10del) n.2077+10del n.2067+10del | dbSNP |
2 | g.47475280C>A | CA2658948075 | MSH2 | c.2005+10C>A (n.2005+10C>A) c.1807+10C>A (n.1807+10C>A) c.*305+10C>A (n.*305+10C>A) c.*401+10C>A (n.*401+10C>A) c.*545+10C>A (n.*545+10C>A) c.*771+10C>A (n.*771+10C>A) c.*977+10C>A (n.*977+10C>A) n.2077+10C>A n.2067+10C>A | gnomAD v4 |
2 | g.47475280C= | CA2495872619 | MSH2 | c.2005+10C= (n.2005+10C=) c.1807+10C= (n.1807+10C=) c.*305+10C= (n.*305+10C=) c.*401+10C= (n.*401+10C=) c.*545+10C= (n.*545+10C=) c.*771+10C= (n.*771+10C=) c.*977+10C= (n.*977+10C=) n.2077+10C= n.2067+10C= | |
2 | g.47475280C>T | CA913189961 | MSH2 | c.2005+10C>T (n.2005+10C>T) c.1807+10C>T (n.1807+10C>T) c.*305+10C>T (n.*305+10C>T) c.*401+10C>T (n.*401+10C>T) c.*545+10C>T (n.*545+10C>T) c.*771+10C>T (n.*771+10C>T) c.*977+10C>T (n.*977+10C>T) n.2077+10C>T n.2067+10C>T | ClinVar dbSNP gnomAD v4 |
2 | g.47475281T>A | CA2699275926 | MSH2 | c.2005+11T>A (n.2005+11T>A) c.1807+11T>A (n.1807+11T>A) c.*305+11T>A (n.*305+11T>A) c.*401+11T>A (n.*401+11T>A) c.*545+11T>A (n.*545+11T>A) c.*771+11T>A (n.*771+11T>A) c.*977+11T>A (n.*977+11T>A) n.2077+11T>A n.2067+11T>A | dbSNP |
2 | g.47475281T>G | CA2580067107 | MSH2 | c.2005+11T>G (n.2005+11T>G) c.1807+11T>G (n.1807+11T>G) c.*305+11T>G (n.*305+11T>G) c.*401+11T>G (n.*401+11T>G) c.*545+11T>G (n.*545+11T>G) c.*771+11T>G (n.*771+11T>G) c.*977+11T>G (n.*977+11T>G) n.2077+11T>G n.2067+11T>G | ClinVar |
2 | g.47475282G>A | CA16604159 | MSH2 | c.2005+12G>A (n.2005+12G>A) c.1807+12G>A (n.1807+12G>A) c.*305+12G>A (n.*305+12G>A) c.*401+12G>A (n.*401+12G>A) c.*545+12G>A (n.*545+12G>A) c.*771+12G>A (n.*771+12G>A) c.*977+12G>A (n.*977+12G>A) n.2077+12G>A n.2067+12G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475282G>C | CA032380 | MSH2 | c.2005+12G>C (n.2005+12G>C) c.1807+12G>C (n.1807+12G>C) c.*305+12G>C (n.*305+12G>C) c.*401+12G>C (n.*401+12G>C) c.*545+12G>C (n.*545+12G>C) c.*771+12G>C (n.*771+12G>C) c.*977+12G>C (n.*977+12G>C) n.2077+12G>C n.2067+12G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475282G= | CA2495872620 | MSH2 | c.2005+12G= (n.2005+12G=) c.1807+12G= (n.1807+12G=) c.*305+12G= (n.*305+12G=) c.*401+12G= (n.*401+12G=) c.*545+12G= (n.*545+12G=) c.*771+12G= (n.*771+12G=) c.*977+12G= (n.*977+12G=) n.2077+12G= n.2067+12G= | |
2 | g.47475282G>T | CA2658948076 | MSH2 | c.2005+12G>T (n.2005+12G>T) c.1807+12G>T (n.1807+12G>T) c.*305+12G>T (n.*305+12G>T) c.*401+12G>T (n.*401+12G>T) c.*545+12G>T (n.*545+12G>T) c.*771+12G>T (n.*771+12G>T) c.*977+12G>T (n.*977+12G>T) n.2077+12G>T n.2067+12G>T | dbSNP gnomAD v4 |
2 | g.47475283G>A | CA2658948077 | MSH2 | c.2005+13G>A (n.2005+13G>A) c.1807+13G>A (n.1807+13G>A) c.*305+13G>A (n.*305+13G>A) c.*401+13G>A (n.*401+13G>A) c.*545+13G>A (n.*545+13G>A) c.*771+13G>A (n.*771+13G>A) c.*977+13G>A (n.*977+13G>A) n.2077+13G>A n.2067+13G>A | dbSNP gnomAD v4 |
2 | g.47475283G>C | CA16604160 | MSH2 | c.2005+13G>C (n.2005+13G>C) c.1807+13G>C (n.1807+13G>C) c.*305+13G>C (n.*305+13G>C) c.*401+13G>C (n.*401+13G>C) c.*545+13G>C (n.*545+13G>C) c.*771+13G>C (n.*771+13G>C) c.*977+13G>C (n.*977+13G>C) n.2077+13G>C n.2067+13G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475283G= | CA2495872621 | MSH2 | c.2005+13G= (n.2005+13G=) c.1807+13G= (n.1807+13G=) c.*305+13G= (n.*305+13G=) c.*401+13G= (n.*401+13G=) c.*545+13G= (n.*545+13G=) c.*771+13G= (n.*771+13G=) c.*977+13G= (n.*977+13G=) n.2077+13G= n.2067+13G= | |
2 | g.47475283G>T | CA032394 | MSH2 | c.2005+13G>T (n.2005+13G>T) c.1807+13G>T (n.1807+13G>T) c.*305+13G>T (n.*305+13G>T) c.*401+13G>T (n.*401+13G>T) c.*545+13G>T (n.*545+13G>T) c.*771+13G>T (n.*771+13G>T) c.*977+13G>T (n.*977+13G>T) n.2077+13G>T n.2067+13G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475284T>A | CA2699099373 | MSH2 | c.2005+14T>A (n.2005+14T>A) c.1807+14T>A (n.1807+14T>A) c.*305+14T>A (n.*305+14T>A) c.*401+14T>A (n.*401+14T>A) c.*545+14T>A (n.*545+14T>A) c.*771+14T>A (n.*771+14T>A) c.*977+14T>A (n.*977+14T>A) n.2077+14T>A n.2067+14T>A | dbSNP |
2 | g.47475284T>C | CA532705081 | MSH2 | c.2005+14T>C (n.2005+14T>C) c.1807+14T>C (n.1807+14T>C) c.*305+14T>C (n.*305+14T>C) c.*401+14T>C (n.*401+14T>C) c.*545+14T>C (n.*545+14T>C) c.*771+14T>C (n.*771+14T>C) c.*977+14T>C (n.*977+14T>C) n.2077+14T>C n.2067+14T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475284T>G | CA532705082 | MSH2 | c.2005+14T>G (n.2005+14T>G) c.1807+14T>G (n.1807+14T>G) c.*305+14T>G (n.*305+14T>G) c.*401+14T>G (n.*401+14T>G) c.*545+14T>G (n.*545+14T>G) c.*771+14T>G (n.*771+14T>G) c.*977+14T>G (n.*977+14T>G) n.2077+14T>G n.2067+14T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475284T= | CA2495872622 | MSH2 | c.2005+14T= (n.2005+14T=) c.1807+14T= (n.1807+14T=) c.*305+14T= (n.*305+14T=) c.*401+14T= (n.*401+14T=) c.*545+14T= (n.*545+14T=) c.*771+14T= (n.*771+14T=) c.*977+14T= (n.*977+14T=) n.2077+14T= n.2067+14T= | |
2 | g.47475288dup | CA1030270029 | MSH2 | c.2005+18dup (n.2005+18dup) c.1807+18dup (n.1807+18dup) c.*305+18dup (n.*305+18dup) c.*401+18dup (n.*401+18dup) c.*545+18dup (n.*545+18dup) c.*771+18dup (n.*771+18dup) c.*977+18dup (n.*977+18dup) n.2077+18dup n.2067+18dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475288del | CA2516656101 | MSH2 | c.2005+18del (n.2005+18del) c.1807+18del (n.1807+18del) c.*305+18del (n.*305+18del) c.*401+18del (n.*401+18del) c.*545+18del (n.*545+18del) c.*771+18del (n.*771+18del) c.*977+18del (n.*977+18del) n.2077+18del n.2067+18del | ClinVar dbSNP gnomAD v4 |
2 | g.47475285T>C | CA2699275933 | MSH2 | c.2005+15T>C (n.2005+15T>C) c.1807+15T>C (n.1807+15T>C) c.*305+15T>C (n.*305+15T>C) c.*401+15T>C (n.*401+15T>C) c.*545+15T>C (n.*545+15T>C) c.*771+15T>C (n.*771+15T>C) c.*977+15T>C (n.*977+15T>C) n.2077+15T>C n.2067+15T>C | dbSNP |
2 | g.47475285T>G | CA2576961023 | MSH2 | c.2005+15T>G (n.2005+15T>G) c.1807+15T>G (n.1807+15T>G) c.*305+15T>G (n.*305+15T>G) c.*401+15T>G (n.*401+15T>G) c.*545+15T>G (n.*545+15T>G) c.*771+15T>G (n.*771+15T>G) c.*977+15T>G (n.*977+15T>G) n.2077+15T>G n.2067+15T>G | ClinVar |
2 | g.47475286T>C | CA2699275942 | MSH2 | c.2005+16T>C (n.2005+16T>C) c.1807+16T>C (n.1807+16T>C) c.*305+16T>C (n.*305+16T>C) c.*401+16T>C (n.*401+16T>C) c.*545+16T>C (n.*545+16T>C) c.*771+16T>C (n.*771+16T>C) c.*977+16T>C (n.*977+16T>C) n.2077+16T>C n.2067+16T>C | dbSNP |
2 | g.47475286T>G | CA2658948078 | MSH2 | c.2005+16T>G (n.2005+16T>G) c.1807+16T>G (n.1807+16T>G) c.*305+16T>G (n.*305+16T>G) c.*401+16T>G (n.*401+16T>G) c.*545+16T>G (n.*545+16T>G) c.*771+16T>G (n.*771+16T>G) c.*977+16T>G (n.*977+16T>G) n.2077+16T>G n.2067+16T>G | gnomAD v4 |
2 | g.47475287T>C | CA2699276211 | MSH2 | c.2005+17T>C (n.2005+17T>C) c.1807+17T>C (n.1807+17T>C) c.*305+17T>C (n.*305+17T>C) c.*401+17T>C (n.*401+17T>C) c.*545+17T>C (n.*545+17T>C) c.*771+17T>C (n.*771+17T>C) c.*977+17T>C (n.*977+17T>C) n.2077+17T>C n.2067+17T>C | dbSNP |
2 | g.47475288T>C | CA2658948079 | MSH2 | c.2005+18T>C (n.2005+18T>C) c.1807+18T>C (n.1807+18T>C) c.*305+18T>C (n.*305+18T>C) c.*401+18T>C (n.*401+18T>C) c.*545+18T>C (n.*545+18T>C) c.*771+18T>C (n.*771+18T>C) c.*977+18T>C (n.*977+18T>C) n.2077+18T>C n.2067+18T>C | gnomAD v4 |
2 | g.47475288T>G | CA46700796 | MSH2 | c.2005+18T>G (n.2005+18T>G) c.1807+18T>G (n.1807+18T>G) c.*305+18T>G (n.*305+18T>G) c.*401+18T>G (n.*401+18T>G) c.*545+18T>G (n.*545+18T>G) c.*771+18T>G (n.*771+18T>G) c.*977+18T>G (n.*977+18T>G) n.2077+18T>G n.2067+18T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475288T= | CA2495872623 | MSH2 | c.2005+18T= (n.2005+18T=) c.1807+18T= (n.1807+18T=) c.*305+18T= (n.*305+18T=) c.*401+18T= (n.*401+18T=) c.*545+18T= (n.*545+18T=) c.*771+18T= (n.*771+18T=) c.*977+18T= (n.*977+18T=) n.2077+18T= n.2067+18T= | |
2 | g.47475289G>A | CA2699082961 | MSH2 | c.2005+19G>A (n.2005+19G>A) c.1807+19G>A (n.1807+19G>A) c.*305+19G>A (n.*305+19G>A) c.*401+19G>A (n.*401+19G>A) c.*545+19G>A (n.*545+19G>A) c.*771+19G>A (n.*771+19G>A) c.*977+19G>A (n.*977+19G>A) n.2077+19G>A n.2067+19G>A | dbSNP |
2 | g.47475289G>C | CA2699082962 | MSH2 | c.2005+19G>C (n.2005+19G>C) c.1807+19G>C (n.1807+19G>C) c.*305+19G>C (n.*305+19G>C) c.*401+19G>C (n.*401+19G>C) c.*545+19G>C (n.*545+19G>C) c.*771+19G>C (n.*771+19G>C) c.*977+19G>C (n.*977+19G>C) n.2077+19G>C n.2067+19G>C | dbSNP |
2 | g.47475289G= | CA2495872624 | MSH2 | c.2005+19G= (n.2005+19G=) c.1807+19G= (n.1807+19G=) c.*305+19G= (n.*305+19G=) c.*401+19G= (n.*401+19G=) c.*545+19G= (n.*545+19G=) c.*771+19G= (n.*771+19G=) c.*977+19G= (n.*977+19G=) n.2077+19G= n.2067+19G= | |
2 | g.47475289G>T | CA032402 | MSH2 | c.2005+19G>T (n.2005+19G>T) c.1807+19G>T (n.1807+19G>T) c.*305+19G>T (n.*305+19G>T) c.*401+19G>T (n.*401+19G>T) c.*545+19G>T (n.*545+19G>T) c.*771+19G>T (n.*771+19G>T) c.*977+19G>T (n.*977+19G>T) n.2077+19G>T n.2067+19G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.47475291del | CA2739274412 | MSH2 | c.2005+21del (n.2005+21del) c.1807+21del (n.1807+21del) c.*305+21del (n.*305+21del) c.*401+21del (n.*401+21del) c.*545+21del (n.*545+21del) c.*771+21del (n.*771+21del) c.*977+21del (n.*977+21del) n.2077+21del n.2067+21del | ClinVar |
2 | g.47475289_47475292del | CA2658948080 | MSH2 | c.2005+19_2005+22del (n.2005+19_2005+22del) c.1807+19_1807+22del (n.1807+19_1807+22del) c.*305+19_*305+22del (n.*305+19_*305+22del) c.*401+19_*401+22del (n.*401+19_*401+22del) c.*545+19_*545+22del (n.*545+19_*545+22del) c.*771+19_*771+22del (n.*771+19_*771+22del) c.*977+19_*977+22del (n.*977+19_*977+22del) n.2077+19_2077+22del n.2067+19_2067+22del | gnomAD v4 |
2 | g.47475290G>A | CA658683238 | MSH2 | c.2005+20G>A (n.2005+20G>A) c.1807+20G>A (n.1807+20G>A) c.*305+20G>A (n.*305+20G>A) c.*401+20G>A (n.*401+20G>A) c.*545+20G>A (n.*545+20G>A) c.*771+20G>A (n.*771+20G>A) c.*977+20G>A (n.*977+20G>A) n.2077+20G>A n.2067+20G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475290G>C | CA2699098398 | MSH2 | c.2005+20G>C (n.2005+20G>C) c.1807+20G>C (n.1807+20G>C) c.*305+20G>C (n.*305+20G>C) c.*401+20G>C (n.*401+20G>C) c.*545+20G>C (n.*545+20G>C) c.*771+20G>C (n.*771+20G>C) c.*977+20G>C (n.*977+20G>C) n.2077+20G>C n.2067+20G>C | dbSNP |
2 | g.47475290G= | CA2495872625 | MSH2 | c.2005+20G= (n.2005+20G=) c.1807+20G= (n.1807+20G=) c.*305+20G= (n.*305+20G=) c.*401+20G= (n.*401+20G=) c.*545+20G= (n.*545+20G=) c.*771+20G= (n.*771+20G=) c.*977+20G= (n.*977+20G=) n.2077+20G= n.2067+20G= | |
2 | g.47475290G>T | CA2658948081 | MSH2 | c.2005+20G>T (n.2005+20G>T) c.1807+20G>T (n.1807+20G>T) c.*305+20G>T (n.*305+20G>T) c.*401+20G>T (n.*401+20G>T) c.*545+20G>T (n.*545+20G>T) c.*771+20G>T (n.*771+20G>T) c.*977+20G>T (n.*977+20G>T) n.2077+20G>T n.2067+20G>T | dbSNP gnomAD v4 |
2 | g.47475291G>A | CA532705083 | MSH2 | c.2005+21G>A (n.2005+21G>A) c.1807+21G>A (n.1807+21G>A) c.*305+21G>A (n.*305+21G>A) c.*401+21G>A (n.*401+21G>A) c.*545+21G>A (n.*545+21G>A) c.*771+21G>A (n.*771+21G>A) c.*977+21G>A (n.*977+21G>A) n.2077+21G>A n.2067+21G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475291G>C | CA2699117515 | MSH2 | c.2005+21G>C (n.2005+21G>C) c.1807+21G>C (n.1807+21G>C) c.*305+21G>C (n.*305+21G>C) c.*401+21G>C (n.*401+21G>C) c.*545+21G>C (n.*545+21G>C) c.*771+21G>C (n.*771+21G>C) c.*977+21G>C (n.*977+21G>C) n.2077+21G>C n.2067+21G>C | dbSNP |
2 | g.47475291G= | CA2495872626 | MSH2 | c.2005+21G= (n.2005+21G=) c.1807+21G= (n.1807+21G=) c.*305+21G= (n.*305+21G=) c.*401+21G= (n.*401+21G=) c.*545+21G= (n.*545+21G=) c.*771+21G= (n.*771+21G=) c.*977+21G= (n.*977+21G=) n.2077+21G= n.2067+21G= | |
2 | g.47475291G>T | CA2658948082 | MSH2 | c.2005+21G>T (n.2005+21G>T) c.1807+21G>T (n.1807+21G>T) c.*305+21G>T (n.*305+21G>T) c.*401+21G>T (n.*401+21G>T) c.*545+21G>T (n.*545+21G>T) c.*771+21G>T (n.*771+21G>T) c.*977+21G>T (n.*977+21G>T) n.2077+21G>T n.2067+21G>T | dbSNP gnomAD v4 |
2 | g.47475292C>A | CA2658948083 | MSH2 | c.2005+22C>A (n.2005+22C>A) c.1807+22C>A (n.1807+22C>A) c.*305+22C>A (n.*305+22C>A) c.*401+22C>A (n.*401+22C>A) c.*545+22C>A (n.*545+22C>A) c.*771+22C>A (n.*771+22C>A) c.*977+22C>A (n.*977+22C>A) n.2077+22C>A n.2067+22C>A | dbSNP gnomAD v4 |
2 | g.47475292C= | CA2495872628 | MSH2 | c.2005+22C= (n.2005+22C=) c.1807+22C= (n.1807+22C=) c.*305+22C= (n.*305+22C=) c.*401+22C= (n.*401+22C=) c.*545+22C= (n.*545+22C=) c.*771+22C= (n.*771+22C=) c.*977+22C= (n.*977+22C=) n.2077+22C= n.2067+22C= | |
2 | g.47475292C>G | CA032432 | MSH2 | c.2005+22C>G (n.2005+22C>G) c.1807+22C>G (n.1807+22C>G) c.*305+22C>G (n.*305+22C>G) c.*401+22C>G (n.*401+22C>G) c.*545+22C>G (n.*545+22C>G) c.*771+22C>G (n.*771+22C>G) c.*977+22C>G (n.*977+22C>G) n.2077+22C>G n.2067+22C>G | dbSNP ExAC gnomAD v4 |
2 | g.47475292C>T | CA032453 | MSH2 | c.2005+22C>T (n.2005+22C>T) c.1807+22C>T (n.1807+22C>T) c.*305+22C>T (n.*305+22C>T) c.*401+22C>T (n.*401+22C>T) c.*545+22C>T (n.*545+22C>T) c.*771+22C>T (n.*771+22C>T) c.*977+22C>T (n.*977+22C>T) n.2077+22C>T n.2067+22C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475292_47475295dup | CA2495872627 | MSH2 | c.2005+22_2005+25dup (n.2005+22_2005+25dup) c.1807+22_1807+25dup (n.1807+22_1807+25dup) c.*305+22_*305+25dup (n.*305+22_*305+25dup) c.*401+22_*401+25dup (n.*401+22_*401+25dup) c.*545+22_*545+25dup (n.*545+22_*545+25dup) c.*771+22_*771+25dup (n.*771+22_*771+25dup) c.*977+22_*977+25dup (n.*977+22_*977+25dup) n.2077+22_2077+25dup n.2067+22_2067+25dup | dbSNP |
2 | g.47475293T>A | CA2699276218 | MSH2 | c.2005+23T>A (n.2005+23T>A) c.1807+23T>A (n.1807+23T>A) c.*305+23T>A (n.*305+23T>A) c.*401+23T>A (n.*401+23T>A) c.*545+23T>A (n.*545+23T>A) c.*771+23T>A (n.*771+23T>A) c.*977+23T>A (n.*977+23T>A) n.2077+23T>A n.2067+23T>A | dbSNP |
2 | g.47475294T>C | CA2658948084 | MSH2 | c.2005+24T>C (n.2005+24T>C) c.1807+24T>C (n.1807+24T>C) c.*305+24T>C (n.*305+24T>C) c.*401+24T>C (n.*401+24T>C) c.*545+24T>C (n.*545+24T>C) c.*771+24T>C (n.*771+24T>C) c.*977+24T>C (n.*977+24T>C) n.2077+24T>C n.2067+24T>C | dbSNP gnomAD v4 |
2 | g.47475295T>G | CA019718 | MSH2 | c.2005+25T>G (n.2005+25T>G) c.1807+25T>G (n.1807+25T>G) c.*305+25T>G (n.*305+25T>G) c.*401+25T>G (n.*401+25T>G) c.*545+25T>G (n.*545+25T>G) c.*771+25T>G (n.*771+25T>G) c.*977+25T>G (n.*977+25T>G) n.2077+25T>G n.2067+25T>G | dbSNP |
2 | g.47475295T= | CA2495872629 | MSH2 | c.2005+25T= (n.2005+25T=) c.1807+25T= (n.1807+25T=) c.*305+25T= (n.*305+25T=) c.*401+25T= (n.*401+25T=) c.*545+25T= (n.*545+25T=) c.*771+25T= (n.*771+25T=) c.*977+25T= (n.*977+25T=) n.2077+25T= n.2067+25T= | |
2 | g.47475296G>A | CA032473 | MSH2 | c.2005+26G>A (n.2005+26G>A) c.1807+26G>A (n.1807+26G>A) c.*305+26G>A (n.*305+26G>A) c.*401+26G>A (n.*401+26G>A) c.*545+26G>A (n.*545+26G>A) c.*771+26G>A (n.*771+26G>A) c.*977+26G>A (n.*977+26G>A) n.2077+26G>A n.2067+26G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475296G= | CA2495872630 | MSH2 | c.2005+26G= (n.2005+26G=) c.1807+26G= (n.1807+26G=) c.*305+26G= (n.*305+26G=) c.*401+26G= (n.*401+26G=) c.*545+26G= (n.*545+26G=) c.*771+26G= (n.*771+26G=) c.*977+26G= (n.*977+26G=) n.2077+26G= n.2067+26G= | |
2 | g.47475296G>T | CA032490 | MSH2 | c.2005+26G>T (n.2005+26G>T) c.1807+26G>T (n.1807+26G>T) c.*305+26G>T (n.*305+26G>T) c.*401+26G>T (n.*401+26G>T) c.*545+26G>T (n.*545+26G>T) c.*771+26G>T (n.*771+26G>T) c.*977+26G>T (n.*977+26G>T) n.2077+26G>T n.2067+26G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475296_47475307del | CA2658948085 | MSH2 | c.2005+26_2005+37del (n.2005+26_2005+37del) c.1807+26_1807+37del (n.1807+26_1807+37del) c.*305+26_*305+37del (n.*305+26_*305+37del) c.*401+26_*401+37del (n.*401+26_*401+37del) c.*545+26_*545+37del (n.*545+26_*545+37del) c.*771+26_*771+37del (n.*771+26_*771+37del) c.*977+26_*977+37del (n.*977+26_*977+37del) n.2077+26_2077+37del n.2067+26_2067+37del | gnomAD v4 |
2 | g.47475297T>G | CA032519 | MSH2 | c.2005+27T>G (n.2005+27T>G) c.1807+27T>G (n.1807+27T>G) c.*305+27T>G (n.*305+27T>G) c.*401+27T>G (n.*401+27T>G) c.*545+27T>G (n.*545+27T>G) c.*771+27T>G (n.*771+27T>G) c.*977+27T>G (n.*977+27T>G) n.2077+27T>G n.2067+27T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475297T= | CA2495872631 | MSH2 | c.2005+27T= (n.2005+27T=) c.1807+27T= (n.1807+27T=) c.*305+27T= (n.*305+27T=) c.*401+27T= (n.*401+27T=) c.*545+27T= (n.*545+27T=) c.*771+27T= (n.*771+27T=) c.*977+27T= (n.*977+27T=) n.2077+27T= n.2067+27T= | |
2 | g.47475298G>A | CA2658948088 | MSH2 | c.2005+28G>A (n.2005+28G>A) c.1807+28G>A (n.1807+28G>A) c.*305+28G>A (n.*305+28G>A) c.*401+28G>A (n.*401+28G>A) c.*545+28G>A (n.*545+28G>A) c.*771+28G>A (n.*771+28G>A) c.*977+28G>A (n.*977+28G>A) n.2077+28G>A n.2067+28G>A | gnomAD v4 |
2 | g.47475298G>C | CA2699276329 | MSH2 | c.2005+28G>C (n.2005+28G>C) c.1807+28G>C (n.1807+28G>C) c.*305+28G>C (n.*305+28G>C) c.*401+28G>C (n.*401+28G>C) c.*545+28G>C (n.*545+28G>C) c.*771+28G>C (n.*771+28G>C) c.*977+28G>C (n.*977+28G>C) n.2077+28G>C n.2067+28G>C | dbSNP |
2 | g.47475298G>T | CA2658948089 | MSH2 | c.2005+28G>T (n.2005+28G>T) c.1807+28G>T (n.1807+28G>T) c.*305+28G>T (n.*305+28G>T) c.*401+28G>T (n.*401+28G>T) c.*545+28G>T (n.*545+28G>T) c.*771+28G>T (n.*771+28G>T) c.*977+28G>T (n.*977+28G>T) n.2077+28G>T n.2067+28G>T | dbSNP gnomAD v4 |
2 | g.47475302dup | CA2658948086 | MSH2 | c.2005+32dup (n.2005+32dup) c.1807+32dup (n.1807+32dup) c.*305+32dup (n.*305+32dup) c.*401+32dup (n.*401+32dup) c.*545+32dup (n.*545+32dup) c.*771+32dup (n.*771+32dup) c.*977+32dup (n.*977+32dup) n.2077+32dup n.2067+32dup | gnomAD v4 |
2 | g.47475302del | CA2658948087 | MSH2 | c.2005+32del (n.2005+32del) c.1807+32del (n.1807+32del) c.*305+32del (n.*305+32del) c.*401+32del (n.*401+32del) c.*545+32del (n.*545+32del) c.*771+32del (n.*771+32del) c.*977+32del (n.*977+32del) n.2077+32del n.2067+32del | gnomAD v4 |
2 | g.47475299G>A | CA2495872633 | MSH2 | c.2005+29G>A (n.2005+29G>A) c.1807+29G>A (n.1807+29G>A) c.*305+29G>A (n.*305+29G>A) c.*401+29G>A (n.*401+29G>A) c.*545+29G>A (n.*545+29G>A) c.*771+29G>A (n.*771+29G>A) c.*977+29G>A (n.*977+29G>A) n.2077+29G>A n.2067+29G>A | dbSNP |
2 | g.47475299G>C | CA2699127044 | MSH2 | c.2005+29G>C (n.2005+29G>C) c.1807+29G>C (n.1807+29G>C) c.*305+29G>C (n.*305+29G>C) c.*401+29G>C (n.*401+29G>C) c.*545+29G>C (n.*545+29G>C) c.*771+29G>C (n.*771+29G>C) c.*977+29G>C (n.*977+29G>C) n.2077+29G>C n.2067+29G>C | dbSNP |
2 | g.47475299G= | CA2495872632 | MSH2 | c.2005+29G= (n.2005+29G=) c.1807+29G= (n.1807+29G=) c.*305+29G= (n.*305+29G=) c.*401+29G= (n.*401+29G=) c.*545+29G= (n.*545+29G=) c.*771+29G= (n.*771+29G=) c.*977+29G= (n.*977+29G=) n.2077+29G= n.2067+29G= | |
2 | g.47475299G>T | CA2658948090 | MSH2 | c.2005+29G>T (n.2005+29G>T) c.1807+29G>T (n.1807+29G>T) c.*305+29G>T (n.*305+29G>T) c.*401+29G>T (n.*401+29G>T) c.*545+29G>T (n.*545+29G>T) c.*771+29G>T (n.*771+29G>T) c.*977+29G>T (n.*977+29G>T) n.2077+29G>T n.2067+29G>T | dbSNP gnomAD v4 |
2 | g.47475300G>A | CA2699127048 | MSH2 | c.2005+30G>A (n.2005+30G>A) c.1807+30G>A (n.1807+30G>A) c.*305+30G>A (n.*305+30G>A) c.*401+30G>A (n.*401+30G>A) c.*545+30G>A (n.*545+30G>A) c.*771+30G>A (n.*771+30G>A) c.*977+30G>A (n.*977+30G>A) n.2077+30G>A n.2067+30G>A | dbSNP |
2 | g.47475300G>C | CA2495872635 | MSH2 | c.2005+30G>C (n.2005+30G>C) c.1807+30G>C (n.1807+30G>C) c.*305+30G>C (n.*305+30G>C) c.*401+30G>C (n.*401+30G>C) c.*545+30G>C (n.*545+30G>C) c.*771+30G>C (n.*771+30G>C) c.*977+30G>C (n.*977+30G>C) n.2077+30G>C n.2067+30G>C | dbSNP gnomAD v4 |
2 | g.47475300G= | CA2495872634 | MSH2 | c.2005+30G= (n.2005+30G=) c.1807+30G= (n.1807+30G=) c.*305+30G= (n.*305+30G=) c.*401+30G= (n.*401+30G=) c.*545+30G= (n.*545+30G=) c.*771+30G= (n.*771+30G=) c.*977+30G= (n.*977+30G=) n.2077+30G= n.2067+30G= | |
2 | g.47475300G>T | CA2658948091 | MSH2 | c.2005+30G>T (n.2005+30G>T) c.1807+30G>T (n.1807+30G>T) c.*305+30G>T (n.*305+30G>T) c.*401+30G>T (n.*401+30G>T) c.*545+30G>T (n.*545+30G>T) c.*771+30G>T (n.*771+30G>T) c.*977+30G>T (n.*977+30G>T) n.2077+30G>T n.2067+30G>T | dbSNP gnomAD v4 |
2 | g.47475301G>A | CA46700834 | MSH2 | c.2005+31G>A (n.2005+31G>A) c.1807+31G>A (n.1807+31G>A) c.*305+31G>A (n.*305+31G>A) c.*401+31G>A (n.*401+31G>A) c.*545+31G>A (n.*545+31G>A) c.*771+31G>A (n.*771+31G>A) c.*977+31G>A (n.*977+31G>A) n.2077+31G>A n.2067+31G>A | dbSNP |
2 | g.47475301G>C | CA2699086010 | MSH2 | c.2005+31G>C (n.2005+31G>C) c.1807+31G>C (n.1807+31G>C) c.*305+31G>C (n.*305+31G>C) c.*401+31G>C (n.*401+31G>C) c.*545+31G>C (n.*545+31G>C) c.*771+31G>C (n.*771+31G>C) c.*977+31G>C (n.*977+31G>C) n.2077+31G>C n.2067+31G>C | dbSNP |
2 | g.47475301G= | CA2495872637 | MSH2 | c.2005+31G= (n.2005+31G=) c.1807+31G= (n.1807+31G=) c.*305+31G= (n.*305+31G=) c.*401+31G= (n.*401+31G=) c.*545+31G= (n.*545+31G=) c.*771+31G= (n.*771+31G=) c.*977+31G= (n.*977+31G=) n.2077+31G= n.2067+31G= | |
2 | g.47475301G>T | CA1030270051 | MSH2 | c.2005+31G>T (n.2005+31G>T) c.1807+31G>T (n.1807+31G>T) c.*305+31G>T (n.*305+31G>T) c.*401+31G>T (n.*401+31G>T) c.*545+31G>T (n.*545+31G>T) c.*771+31G>T (n.*771+31G>T) c.*977+31G>T (n.*977+31G>T) n.2077+31G>T n.2067+31G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475301_47475303delinsGGT | CA2495872636 | MSH2 | c.2005+31_2005+33delinsGGT (n.2005+31_2005+33delinsGGT) c.1807+31_1807+33delinsGGT (n.1807+31_1807+33delinsGGT) c.*305+31_*305+33delinsGGT (n.*305+31_*305+33delinsGGT) c.*401+31_*401+33delinsGGT (n.*401+31_*401+33delinsGGT) c.*545+31_*545+33delinsGGT (n.*545+31_*545+33delinsGGT) c.*771+31_*771+33delinsGGT (n.*771+31_*771+33delinsGGT) c.*977+31_*977+33delinsGGT (n.*977+31_*977+33delinsGGT) n.2077+31_2077+33delinsGGT n.2067+31_2067+33delinsGGT | |
2 | g.47475302G>A | CA2658948092 | MSH2 | c.2005+32G>A (n.2005+32G>A) c.1807+32G>A (n.1807+32G>A) c.*305+32G>A (n.*305+32G>A) c.*401+32G>A (n.*401+32G>A) c.*545+32G>A (n.*545+32G>A) c.*771+32G>A (n.*771+32G>A) c.*977+32G>A (n.*977+32G>A) n.2077+32G>A n.2067+32G>A | dbSNP gnomAD v4 |
2 | g.47475302G>C | CA032555 | MSH2 | c.2005+32G>C (n.2005+32G>C) c.1807+32G>C (n.1807+32G>C) c.*305+32G>C (n.*305+32G>C) c.*401+32G>C (n.*401+32G>C) c.*545+32G>C (n.*545+32G>C) c.*771+32G>C (n.*771+32G>C) c.*977+32G>C (n.*977+32G>C) n.2077+32G>C n.2067+32G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475302G= | CA2495872638 | MSH2 | c.2005+32G= (n.2005+32G=) c.1807+32G= (n.1807+32G=) c.*305+32G= (n.*305+32G=) c.*401+32G= (n.*401+32G=) c.*545+32G= (n.*545+32G=) c.*771+32G= (n.*771+32G=) c.*977+32G= (n.*977+32G=) n.2077+32G= n.2067+32G= | |
2 | g.47475302G>T | CA032589 | MSH2 | c.2005+32G>T (n.2005+32G>T) c.1807+32G>T (n.1807+32G>T) c.*305+32G>T (n.*305+32G>T) c.*401+32G>T (n.*401+32G>T) c.*545+32G>T (n.*545+32G>T) c.*771+32G>T (n.*771+32G>T) c.*977+32G>T (n.*977+32G>T) n.2077+32G>T n.2067+32G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475302_47475303del | CA032538 | MSH2 | c.2005+32_2005+33del (n.2005+32_2005+33del) c.1807+32_1807+33del (n.1807+32_1807+33del) c.*305+32_*305+33del (n.*305+32_*305+33del) c.*401+32_*401+33del (n.*401+32_*401+33del) c.*545+32_*545+33del (n.*545+32_*545+33del) c.*771+32_*771+33del (n.*771+32_*771+33del) c.*977+32_*977+33del (n.*977+32_*977+33del) n.2077+32_2077+33del n.2067+32_2067+33del | dbSNP ExAC |
2 | g.47475303T>A | CA2658948093 | MSH2 | c.2005+33T>A (n.2005+33T>A) c.1807+33T>A (n.1807+33T>A) c.*305+33T>A (n.*305+33T>A) c.*401+33T>A (n.*401+33T>A) c.*545+33T>A (n.*545+33T>A) c.*771+33T>A (n.*771+33T>A) c.*977+33T>A (n.*977+33T>A) n.2077+33T>A n.2067+33T>A | gnomAD v4 |
2 | g.47475303T>G | CA032602 | MSH2 | c.2005+33T>G (n.2005+33T>G) c.1807+33T>G (n.1807+33T>G) c.*305+33T>G (n.*305+33T>G) c.*401+33T>G (n.*401+33T>G) c.*545+33T>G (n.*545+33T>G) c.*771+33T>G (n.*771+33T>G) c.*977+33T>G (n.*977+33T>G) n.2077+33T>G n.2067+33T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475303T= | CA2495872639 | MSH2 | c.2005+33T= (n.2005+33T=) c.1807+33T= (n.1807+33T=) c.*305+33T= (n.*305+33T=) c.*401+33T= (n.*401+33T=) c.*545+33T= (n.*545+33T=) c.*771+33T= (n.*771+33T=) c.*977+33T= (n.*977+33T=) n.2077+33T= n.2067+33T= | |
2 | g.47475304A= | CA2495872640 | MSH2 | c.2005+34A= (n.2005+34A=) c.1807+34A= (n.1807+34A=) c.*305+34A= (n.*305+34A=) c.*401+34A= (n.*401+34A=) c.*545+34A= (n.*545+34A=) c.*771+34A= (n.*771+34A=) c.*977+34A= (n.*977+34A=) n.2077+34A= n.2067+34A= | |
2 | g.47475304A>G | CA2658948094 | MSH2 | c.2005+34A>G (n.2005+34A>G) c.1807+34A>G (n.1807+34A>G) c.*305+34A>G (n.*305+34A>G) c.*401+34A>G (n.*401+34A>G) c.*545+34A>G (n.*545+34A>G) c.*771+34A>G (n.*771+34A>G) c.*977+34A>G (n.*977+34A>G) n.2077+34A>G n.2067+34A>G | dbSNP gnomAD v4 |
2 | g.47475304A>T | CA769431875 | MSH2 | c.2005+34A>T (n.2005+34A>T) c.1807+34A>T (n.1807+34A>T) c.*305+34A>T (n.*305+34A>T) c.*401+34A>T (n.*401+34A>T) c.*545+34A>T (n.*545+34A>T) c.*771+34A>T (n.*771+34A>T) c.*977+34A>T (n.*977+34A>T) n.2077+34A>T n.2067+34A>T | dbSNP gnomAD v4 |
2 | g.47475305A= | CA2495872641 | MSH2 | c.2005+35A= (n.2005+35A=) c.1807+35A= (n.1807+35A=) c.*305+35A= (n.*305+35A=) c.*401+35A= (n.*401+35A=) c.*545+35A= (n.*545+35A=) c.*771+35A= (n.*771+35A=) c.*977+35A= (n.*977+35A=) n.2077+35A= n.2067+35A= | |
2 | g.47475305A>G | CA2597416847 | MSH2 | c.2005+35A>G (n.2005+35A>G) c.1807+35A>G (n.1807+35A>G) c.*305+35A>G (n.*305+35A>G) c.*401+35A>G (n.*401+35A>G) c.*545+35A>G (n.*545+35A>G) c.*771+35A>G (n.*771+35A>G) c.*977+35A>G (n.*977+35A>G) n.2077+35A>G n.2067+35A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475305A>T | CA1030270057 | MSH2 | c.2005+35A>T (n.2005+35A>T) c.1807+35A>T (n.1807+35A>T) c.*305+35A>T (n.*305+35A>T) c.*401+35A>T (n.*401+35A>T) c.*545+35A>T (n.*545+35A>T) c.*771+35A>T (n.*771+35A>T) c.*977+35A>T (n.*977+35A>T) n.2077+35A>T n.2067+35A>T | gnomAD v3 gnomAD v4 |
2 | g.47475306del | CA2658948095 | MSH2 | c.2005+36del (n.2005+36del) c.1807+36del (n.1807+36del) c.*305+36del (n.*305+36del) c.*401+36del (n.*401+36del) c.*545+36del (n.*545+36del) c.*771+36del (n.*771+36del) c.*977+36del (n.*977+36del) n.2077+36del n.2067+36del | gnomAD v4 |
2 | g.47475306C>A | CA1030270061 | MSH2 | c.2005+36C>A (n.2005+36C>A) c.1807+36C>A (n.1807+36C>A) c.*305+36C>A (n.*305+36C>A) c.*401+36C>A (n.*401+36C>A) c.*545+36C>A (n.*545+36C>A) c.*771+36C>A (n.*771+36C>A) c.*977+36C>A (n.*977+36C>A) n.2077+36C>A n.2067+36C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475306C= | CA2495872642 | MSH2 | c.2005+36C= (n.2005+36C=) c.1807+36C= (n.1807+36C=) c.*305+36C= (n.*305+36C=) c.*401+36C= (n.*401+36C=) c.*545+36C= (n.*545+36C=) c.*771+36C= (n.*771+36C=) c.*977+36C= (n.*977+36C=) n.2077+36C= n.2067+36C= | |
2 | g.47475306C>G | CA2658948096 | MSH2 | c.2005+36C>G (n.2005+36C>G) c.1807+36C>G (n.1807+36C>G) c.*305+36C>G (n.*305+36C>G) c.*401+36C>G (n.*401+36C>G) c.*545+36C>G (n.*545+36C>G) c.*771+36C>G (n.*771+36C>G) c.*977+36C>G (n.*977+36C>G) n.2077+36C>G n.2067+36C>G | gnomAD v4 |
2 | g.47475306C>T | CA1649274 | MSH2 | c.2005+36C>T (n.2005+36C>T) c.1807+36C>T (n.1807+36C>T) c.*305+36C>T (n.*305+36C>T) c.*401+36C>T (n.*401+36C>T) c.*545+36C>T (n.*545+36C>T) c.*771+36C>T (n.*771+36C>T) c.*977+36C>T (n.*977+36C>T) n.2077+36C>T n.2067+36C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475306dup | CA032615 | MSH2 | c.2005+36dup (n.2005+36dup) c.1807+36dup (n.1807+36dup) c.*305+36dup (n.*305+36dup) c.*401+36dup (n.*401+36dup) c.*545+36dup (n.*545+36dup) c.*771+36dup (n.*771+36dup) c.*977+36dup (n.*977+36dup) n.2077+36dup n.2067+36dup | dbSNP ExAC |
2 | g.47475306_47475307del | CA2658948097 | MSH2 | c.2005+36_2005+37del (n.2005+36_2005+37del) c.1807+36_1807+37del (n.1807+36_1807+37del) c.*305+36_*305+37del (n.*305+36_*305+37del) c.*401+36_*401+37del (n.*401+36_*401+37del) c.*545+36_*545+37del (n.*545+36_*545+37del) c.*771+36_*771+37del (n.*771+36_*771+37del) c.*977+36_*977+37del (n.*977+36_*977+37del) n.2077+36_2077+37del n.2067+36_2067+37del | gnomAD v4 |
2 | g.47475306_47475307delinsCG | CA2495872643 | MSH2 | c.2005+36_2005+37delinsCG (n.2005+36_2005+37delinsCG) c.1807+36_1807+37delinsCG (n.1807+36_1807+37delinsCG) c.*305+36_*305+37delinsCG (n.*305+36_*305+37delinsCG) c.*401+36_*401+37delinsCG (n.*401+36_*401+37delinsCG) c.*545+36_*545+37delinsCG (n.*545+36_*545+37delinsCG) c.*771+36_*771+37delinsCG (n.*771+36_*771+37delinsCG) c.*977+36_*977+37delinsCG (n.*977+36_*977+37delinsCG) n.2077+36_2077+37delinsCG n.2067+36_2067+37delinsCG | |
2 | g.47475306_47475311delinsCGTTTT | CA2495872644 | MSH2 | c.2005+36_2005+41delinsCGTTTT (n.2005+36_2005+41delinsCGTTTT) c.1807+36_1807+41delinsCGTTTT (n.1807+36_1807+41delinsCGTTTT) c.*305+36_*305+41delinsCGTTTT (n.*305+36_*305+41delinsCGTTTT) c.*401+36_*401+41delinsCGTTTT (n.*401+36_*401+41delinsCGTTTT) c.*545+36_*545+41delinsCGTTTT (n.*545+36_*545+41delinsCGTTTT) c.*771+36_*771+41delinsCGTTTT (n.*771+36_*771+41delinsCGTTTT) c.*977+36_*977+41delinsCGTTTT (n.*977+36_*977+41delinsCGTTTT) n.2077+36_2077+41delinsCGTTTT n.2067+36_2067+41delinsCGTTTT | |
2 | g.47475306_47475307insT | CA1649273 | MSH2 | c.2005+36_2005+37insT (n.2005+36_2005+37insT) c.1807+36_1807+37insT (n.1807+36_1807+37insT) c.*305+36_*305+37insT (n.*305+36_*305+37insT) c.*401+36_*401+37insT (n.*401+36_*401+37insT) c.*545+36_*545+37insT (n.*545+36_*545+37insT) c.*771+36_*771+37insT (n.*771+36_*771+37insT) c.*977+36_*977+37insT (n.*977+36_*977+37insT) n.2077+36_2077+37insT n.2067+36_2067+37insT | dbSNP ExAC gnomAD v4 |
2 | g.47475306_47475307insTT | CA2658948101 | MSH2 | c.2005+36_2005+37insTT (n.2005+36_2005+37insTT) c.1807+36_1807+37insTT (n.1807+36_1807+37insTT) c.*305+36_*305+37insTT (n.*305+36_*305+37insTT) c.*401+36_*401+37insTT (n.*401+36_*401+37insTT) c.*545+36_*545+37insTT (n.*545+36_*545+37insTT) c.*771+36_*771+37insTT (n.*771+36_*771+37insTT) c.*977+36_*977+37insTT (n.*977+36_*977+37insTT) n.2077+36_2077+37insTT n.2067+36_2067+37insTT | gnomAD v4 |
2 | g.47475306_47475307insTTT | CA2658948098 | MSH2 | c.2005+36_2005+37insTTT (n.2005+36_2005+37insTTT) c.1807+36_1807+37insTTT (n.1807+36_1807+37insTTT) c.*305+36_*305+37insTTT (n.*305+36_*305+37insTTT) c.*401+36_*401+37insTTT (n.*401+36_*401+37insTTT) c.*545+36_*545+37insTTT (n.*545+36_*545+37insTTT) c.*771+36_*771+37insTTT (n.*771+36_*771+37insTTT) c.*977+36_*977+37insTTT (n.*977+36_*977+37insTTT) n.2077+36_2077+37insTTT n.2067+36_2067+37insTTT | gnomAD v4 |
2 | g.47475306_47475307insTTTT | CA2658948100 | MSH2 | c.2005+36_2005+37insTTTT (n.2005+36_2005+37insTTTT) c.1807+36_1807+37insTTTT (n.1807+36_1807+37insTTTT) c.*305+36_*305+37insTTTT (n.*305+36_*305+37insTTTT) c.*401+36_*401+37insTTTT (n.*401+36_*401+37insTTTT) c.*545+36_*545+37insTTTT (n.*545+36_*545+37insTTTT) c.*771+36_*771+37insTTTT (n.*771+36_*771+37insTTTT) c.*977+36_*977+37insTTTT (n.*977+36_*977+37insTTTT) n.2077+36_2077+37insTTTT n.2067+36_2067+37insTTTT | gnomAD v4 |
2 | g.47475307del | CA1649272 | MSH2 | c.2005+37del (n.2005+37del) c.1807+37del (n.1807+37del) c.*305+37del (n.*305+37del) c.*401+37del (n.*401+37del) c.*545+37del (n.*545+37del) c.*771+37del (n.*771+37del) c.*977+37del (n.*977+37del) n.2077+37del n.2067+37del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475307G>A | CA032723 | MSH2 | c.2005+37G>A (n.2005+37G>A) c.1807+37G>A (n.1807+37G>A) c.*305+37G>A (n.*305+37G>A) c.*401+37G>A (n.*401+37G>A) c.*545+37G>A (n.*545+37G>A) c.*771+37G>A (n.*771+37G>A) c.*977+37G>A (n.*977+37G>A) n.2077+37G>A n.2067+37G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475307G>C | CA032744 | MSH2 | c.2005+37G>C (n.2005+37G>C) c.1807+37G>C (n.1807+37G>C) c.*305+37G>C (n.*305+37G>C) c.*401+37G>C (n.*401+37G>C) c.*545+37G>C (n.*545+37G>C) c.*771+37G>C (n.*771+37G>C) c.*977+37G>C (n.*977+37G>C) n.2077+37G>C n.2067+37G>C | dbSNP ExAC gnomAD v4 |
2 | g.47475307G= | CA2495872645 | MSH2 | c.2005+37G= (n.2005+37G=) c.1807+37G= (n.1807+37G=) c.*305+37G= (n.*305+37G=) c.*401+37G= (n.*401+37G=) c.*545+37G= (n.*545+37G=) c.*771+37G= (n.*771+37G=) c.*977+37G= (n.*977+37G=) n.2077+37G= n.2067+37G= | |
2 | g.47475307G>T | CA032757 | MSH2 | c.2005+37G>T (n.2005+37G>T) c.1807+37G>T (n.1807+37G>T) c.*305+37G>T (n.*305+37G>T) c.*401+37G>T (n.*401+37G>T) c.*545+37G>T (n.*545+37G>T) c.*771+37G>T (n.*771+37G>T) c.*977+37G>T (n.*977+37G>T) n.2077+37G>T n.2067+37G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475307_47475312del | CA2658948099 | MSH2 | c.2005+37_2005+42del (n.2005+37_2005+42del) c.1807+37_1807+42del (n.1807+37_1807+42del) c.*305+37_*305+42del (n.*305+37_*305+42del) c.*401+37_*401+42del (n.*401+37_*401+42del) c.*545+37_*545+42del (n.*545+37_*545+42del) c.*771+37_*771+42del (n.*771+37_*771+42del) c.*977+37_*977+42del (n.*977+37_*977+42del) n.2077+37_2077+42del n.2067+37_2067+42del | gnomAD v4 |
2 | g.47475312_47475316dup | CA532705085 | MSH2 | c.2005+42_2005+46dup (n.2005+42_2005+46dup) c.1807+42_1807+46dup (n.1807+42_1807+46dup) c.*305+42_*305+46dup (n.*305+42_*305+46dup) c.*401+42_*401+46dup (n.*401+42_*401+46dup) c.*545+42_*545+46dup (n.*545+42_*545+46dup) c.*771+42_*771+46dup (n.*771+42_*771+46dup) c.*977+42_*977+46dup (n.*977+42_*977+46dup) n.2077+42_2077+46dup n.2067+42_2067+46dup | dbSNP gnomAD v2 |
2 | g.47475312_47475316del | CA1649271 | MSH2 | c.2005+42_2005+46del (n.2005+42_2005+46del) c.1807+42_1807+46del (n.1807+42_1807+46del) c.*305+42_*305+46del (n.*305+42_*305+46del) c.*401+42_*401+46del (n.*401+42_*401+46del) c.*545+42_*545+46del (n.*545+42_*545+46del) c.*771+42_*771+46del (n.*771+42_*771+46del) c.*977+42_*977+46del (n.*977+42_*977+46del) n.2077+42_2077+46del n.2067+42_2067+46del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475309_47475310insGTGTTTT | CA2658948108 | MSH2 | c.2005+39_2005+40insGTGTTTT (n.2005+39_2005+40insGTGTTTT) c.1807+39_1807+40insGTGTTTT (n.1807+39_1807+40insGTGTTTT) c.*305+39_*305+40insGTGTTTT (n.*305+39_*305+40insGTGTTTT) c.*401+39_*401+40insGTGTTTT (n.*401+39_*401+40insGTGTTTT) c.*545+39_*545+40insGTGTTTT (n.*545+39_*545+40insGTGTTTT) c.*771+39_*771+40insGTGTTTT (n.*771+39_*771+40insGTGTTTT) c.*977+39_*977+40insGTGTTTT (n.*977+39_*977+40insGTGTTTT) n.2077+39_2077+40insGTGTTTT n.2067+39_2067+40insGTGTTTT | gnomAD v4 |
2 | g.47475311_47475312insTTTTT | CA916529056 | MSH2 | c.2005+41_2005+42insTTTTT (n.2005+41_2005+42insTTTTT) c.1807+41_1807+42insTTTTT (n.1807+41_1807+42insTTTTT) c.*305+41_*305+42insTTTTT (n.*305+41_*305+42insTTTTT) c.*401+41_*401+42insTTTTT (n.*401+41_*401+42insTTTTT) c.*545+41_*545+42insTTTTT (n.*545+41_*545+42insTTTTT) c.*771+41_*771+42insTTTTT (n.*771+41_*771+42insTTTTT) c.*977+41_*977+42insTTTTT (n.*977+41_*977+42insTTTTT) n.2077+41_2077+42insTTTTT n.2067+41_2067+42insTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTT | CA1030270120 | MSH2 | c.2005+41_2005+42insTTTTTT (n.2005+41_2005+42insTTTTTT) c.1807+41_1807+42insTTTTTT (n.1807+41_1807+42insTTTTTT) c.*305+41_*305+42insTTTTTT (n.*305+41_*305+42insTTTTTT) c.*401+41_*401+42insTTTTTT (n.*401+41_*401+42insTTTTTT) c.*545+41_*545+42insTTTTTT (n.*545+41_*545+42insTTTTTT) c.*771+41_*771+42insTTTTTT (n.*771+41_*771+42insTTTTTT) c.*977+41_*977+42insTTTTTT (n.*977+41_*977+42insTTTTTT) n.2077+41_2077+42insTTTTTT n.2067+41_2067+42insTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTT | CA2658948107 | MSH2 | c.2005+41_2005+42insTTTTTTT (n.2005+41_2005+42insTTTTTTT) c.1807+41_1807+42insTTTTTTT (n.1807+41_1807+42insTTTTTTT) c.*305+41_*305+42insTTTTTTT (n.*305+41_*305+42insTTTTTTT) c.*401+41_*401+42insTTTTTTT (n.*401+41_*401+42insTTTTTTT) c.*545+41_*545+42insTTTTTTT (n.*545+41_*545+42insTTTTTTT) c.*771+41_*771+42insTTTTTTT (n.*771+41_*771+42insTTTTTTT) c.*977+41_*977+42insTTTTTTT (n.*977+41_*977+42insTTTTTTT) n.2077+41_2077+42insTTTTTTT n.2067+41_2067+42insTTTTTTT | gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTT | CA916529054 | MSH2 | c.2005+41_2005+42insTTTTTTTT (n.2005+41_2005+42insTTTTTTTT) c.1807+41_1807+42insTTTTTTTT (n.1807+41_1807+42insTTTTTTTT) c.*305+41_*305+42insTTTTTTTT (n.*305+41_*305+42insTTTTTTTT) c.*401+41_*401+42insTTTTTTTT (n.*401+41_*401+42insTTTTTTTT) c.*545+41_*545+42insTTTTTTTT (n.*545+41_*545+42insTTTTTTTT) c.*771+41_*771+42insTTTTTTTT (n.*771+41_*771+42insTTTTTTTT) c.*977+41_*977+42insTTTTTTTT (n.*977+41_*977+42insTTTTTTTT) n.2077+41_2077+42insTTTTTTTT n.2067+41_2067+42insTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTT | CA532705090 | MSH2 | c.2005+41_2005+42insTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTT n.2067+41_2067+42insTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTT | CA532705089 | MSH2 | c.2005+41_2005+42insTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTT | CA1030270118 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTT | CA1030270117 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTT | CA532705088 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTT | CA2495872647 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTT | dbSNP |
2 | g.47475311_47475312insTTTTTTTTTTTTTTT | CA1030270124 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTT | CA2658948106 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTT | gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTT | CA1030270113 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTT | CA1030270108 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270107 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270104 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270102 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270097 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270095 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270093 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270089 | MSH2 | c.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+41_2005+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+41_1807+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+41_*305+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+41_*401+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+41_*545+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+41_*771+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+41_*977+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+41_2077+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+41_2067+42insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475311dup | CA1649275 | MSH2 | c.2005+41dup (n.2005+41dup) c.1807+41dup (n.1807+41dup) c.*305+41dup (n.*305+41dup) c.*401+41dup (n.*401+41dup) c.*545+41dup (n.*545+41dup) c.*771+41dup (n.*771+41dup) c.*977+41dup (n.*977+41dup) n.2077+41dup n.2067+41dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475310_47475311dup | CA1649276 | MSH2 | c.2005+40_2005+41dup (n.2005+40_2005+41dup) c.1807+40_1807+41dup (n.1807+40_1807+41dup) c.*305+40_*305+41dup (n.*305+40_*305+41dup) c.*401+40_*401+41dup (n.*401+40_*401+41dup) c.*545+40_*545+41dup (n.*545+40_*545+41dup) c.*771+40_*771+41dup (n.*771+40_*771+41dup) c.*977+40_*977+41dup (n.*977+40_*977+41dup) n.2077+40_2077+41dup n.2067+40_2067+41dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475309_47475311dup | CA1649277 | MSH2 | c.2005+39_2005+41dup (n.2005+39_2005+41dup) c.1807+39_1807+41dup (n.1807+39_1807+41dup) c.*305+39_*305+41dup (n.*305+39_*305+41dup) c.*401+39_*401+41dup (n.*401+39_*401+41dup) c.*545+39_*545+41dup (n.*545+39_*545+41dup) c.*771+39_*771+41dup (n.*771+39_*771+41dup) c.*977+39_*977+41dup (n.*977+39_*977+41dup) n.2077+39_2077+41dup n.2067+39_2067+41dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475308_47475311dup | CA532705091 | MSH2 | c.2005+38_2005+41dup (n.2005+38_2005+41dup) c.1807+38_1807+41dup (n.1807+38_1807+41dup) c.*305+38_*305+41dup (n.*305+38_*305+41dup) c.*401+38_*401+41dup (n.*401+38_*401+41dup) c.*545+38_*545+41dup (n.*545+38_*545+41dup) c.*771+38_*771+41dup (n.*771+38_*771+41dup) c.*977+38_*977+41dup (n.*977+38_*977+41dup) n.2077+38_2077+41dup n.2067+38_2067+41dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475311del | CA2658948105 | MSH2 | c.2005+41del (n.2005+41del) c.1807+41del (n.1807+41del) c.*305+41del (n.*305+41del) c.*401+41del (n.*401+41del) c.*545+41del (n.*545+41del) c.*771+41del (n.*771+41del) c.*977+41del (n.*977+41del) n.2077+41del n.2067+41del | gnomAD v4 |
2 | g.47475308_47475312delinsTTTTG | CA2495872646 | MSH2 | c.2005+38_2005+42delinsTTTTG (n.2005+38_2005+42delinsTTTTG) c.1807+38_1807+42delinsTTTTG (n.1807+38_1807+42delinsTTTTG) c.*305+38_*305+42delinsTTTTG (n.*305+38_*305+42delinsTTTTG) c.*401+38_*401+42delinsTTTTG (n.*401+38_*401+42delinsTTTTG) c.*545+38_*545+42delinsTTTTG (n.*545+38_*545+42delinsTTTTG) c.*771+38_*771+42delinsTTTTG (n.*771+38_*771+42delinsTTTTG) c.*977+38_*977+42delinsTTTTG (n.*977+38_*977+42delinsTTTTG) n.2077+38_2077+42delinsTTTTG n.2067+38_2067+42delinsTTTTG | |
2 | g.47475312_47475317del | CA2658948104 | MSH2 | c.2005+42_2005+47del (n.2005+42_2005+47del) c.1807+42_1807+47del (n.1807+42_1807+47del) c.*305+42_*305+47del (n.*305+42_*305+47del) c.*401+42_*401+47del (n.*401+42_*401+47del) c.*545+42_*545+47del (n.*545+42_*545+47del) c.*771+42_*771+47del (n.*771+42_*771+47del) c.*977+42_*977+47del (n.*977+42_*977+47del) n.2077+42_2077+47del n.2067+42_2067+47del | gnomAD v4 |
2 | g.47475312_47475318del | CA2658948103 | MSH2 | c.2005+42_2005+48del (n.2005+42_2005+48del) c.1807+42_1807+48del (n.1807+42_1807+48del) c.*305+42_*305+48del (n.*305+42_*305+48del) c.*401+42_*401+48del (n.*401+42_*401+48del) c.*545+42_*545+48del (n.*545+42_*545+48del) c.*771+42_*771+48del (n.*771+42_*771+48del) c.*977+42_*977+48del (n.*977+42_*977+48del) n.2077+42_2077+48del n.2067+42_2067+48del | gnomAD v4 |
2 | g.47475312_47475319del | CA2658948102 | MSH2 | c.2005+42_2005+49del (n.2005+42_2005+49del) c.1807+42_1807+49del (n.1807+42_1807+49del) c.*305+42_*305+49del (n.*305+42_*305+49del) c.*401+42_*401+49del (n.*401+42_*401+49del) c.*545+42_*545+49del (n.*545+42_*545+49del) c.*771+42_*771+49del (n.*771+42_*771+49del) c.*977+42_*977+49del (n.*977+42_*977+49del) n.2077+42_2077+49del n.2067+42_2067+49del | gnomAD v4 |
2 | g.47475309T>A | CA2699276360 | MSH2 | c.2005+39T>A (n.2005+39T>A) c.1807+39T>A (n.1807+39T>A) c.*305+39T>A (n.*305+39T>A) c.*401+39T>A (n.*401+39T>A) c.*545+39T>A (n.*545+39T>A) c.*771+39T>A (n.*771+39T>A) c.*977+39T>A (n.*977+39T>A) n.2077+39T>A n.2067+39T>A | dbSNP |
2 | g.47475309T>C | CA2699276340 | MSH2 | c.2005+39T>C (n.2005+39T>C) c.1807+39T>C (n.1807+39T>C) c.*305+39T>C (n.*305+39T>C) c.*401+39T>C (n.*401+39T>C) c.*545+39T>C (n.*545+39T>C) c.*771+39T>C (n.*771+39T>C) c.*977+39T>C (n.*977+39T>C) n.2077+39T>C n.2067+39T>C | dbSNP |
2 | g.47475309T>G | CA2699276339 | MSH2 | c.2005+39T>G (n.2005+39T>G) c.1807+39T>G (n.1807+39T>G) c.*305+39T>G (n.*305+39T>G) c.*401+39T>G (n.*401+39T>G) c.*545+39T>G (n.*545+39T>G) c.*771+39T>G (n.*771+39T>G) c.*977+39T>G (n.*977+39T>G) n.2077+39T>G n.2067+39T>G | dbSNP |
2 | g.47475309_47475312delinsTTTG | CA2495872648 | MSH2 | c.2005+39_2005+42delinsTTTG (n.2005+39_2005+42delinsTTTG) c.1807+39_1807+42delinsTTTG (n.1807+39_1807+42delinsTTTG) c.*305+39_*305+42delinsTTTG (n.*305+39_*305+42delinsTTTG) c.*401+39_*401+42delinsTTTG (n.*401+39_*401+42delinsTTTG) c.*545+39_*545+42delinsTTTG (n.*545+39_*545+42delinsTTTG) c.*771+39_*771+42delinsTTTG (n.*771+39_*771+42delinsTTTG) c.*977+39_*977+42delinsTTTG (n.*977+39_*977+42delinsTTTG) n.2077+39_2077+42delinsTTTG n.2067+39_2067+42delinsTTTG | |
2 | g.47475312_47475315dup | CA2749798748 | MSH2 | c.2005+42_2005+45dup (n.2005+42_2005+45dup) c.1807+42_1807+45dup (n.1807+42_1807+45dup) c.*305+42_*305+45dup (n.*305+42_*305+45dup) c.*401+42_*401+45dup (n.*401+42_*401+45dup) c.*545+42_*545+45dup (n.*545+42_*545+45dup) c.*771+42_*771+45dup (n.*771+42_*771+45dup) c.*977+42_*977+45dup (n.*977+42_*977+45dup) n.2077+42_2077+45dup n.2067+42_2067+45dup | |
2 | g.47475312_47475315del | CA032774 | MSH2 | c.2005+42_2005+45del (n.2005+42_2005+45del) c.1807+42_1807+45del (n.1807+42_1807+45del) c.*305+42_*305+45del (n.*305+42_*305+45del) c.*401+42_*401+45del (n.*401+42_*401+45del) c.*545+42_*545+45del (n.*545+42_*545+45del) c.*771+42_*771+45del (n.*771+42_*771+45del) c.*977+42_*977+45del (n.*977+42_*977+45del) n.2077+42_2077+45del n.2067+42_2067+45del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475309_47475310insGTG | CA2658948109 | MSH2 | c.2005+39_2005+40insGTG (n.2005+39_2005+40insGTG) c.1807+39_1807+40insGTG (n.1807+39_1807+40insGTG) c.*305+39_*305+40insGTG (n.*305+39_*305+40insGTG) c.*401+39_*401+40insGTG (n.*401+39_*401+40insGTG) c.*545+39_*545+40insGTG (n.*545+39_*545+40insGTG) c.*771+39_*771+40insGTG (n.*771+39_*771+40insGTG) c.*977+39_*977+40insGTG (n.*977+39_*977+40insGTG) n.2077+39_2077+40insGTG n.2067+39_2067+40insGTG | gnomAD v4 |
2 | g.47475310T>A | CA2658948110 | MSH2 | c.2005+40T>A (n.2005+40T>A) c.1807+40T>A (n.1807+40T>A) c.*305+40T>A (n.*305+40T>A) c.*401+40T>A (n.*401+40T>A) c.*545+40T>A (n.*545+40T>A) c.*771+40T>A (n.*771+40T>A) c.*977+40T>A (n.*977+40T>A) n.2077+40T>A n.2067+40T>A | gnomAD v4 |
2 | g.47475310T>C | CA2658948111 | MSH2 | c.2005+40T>C (n.2005+40T>C) c.1807+40T>C (n.1807+40T>C) c.*305+40T>C (n.*305+40T>C) c.*401+40T>C (n.*401+40T>C) c.*545+40T>C (n.*545+40T>C) c.*771+40T>C (n.*771+40T>C) c.*977+40T>C (n.*977+40T>C) n.2077+40T>C n.2067+40T>C | gnomAD v4 |
2 | g.47475310T>G | CA532705092 | MSH2 | c.2005+40T>G (n.2005+40T>G) c.1807+40T>G (n.1807+40T>G) c.*305+40T>G (n.*305+40T>G) c.*401+40T>G (n.*401+40T>G) c.*545+40T>G (n.*545+40T>G) c.*771+40T>G (n.*771+40T>G) c.*977+40T>G (n.*977+40T>G) n.2077+40T>G n.2067+40T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475310T= | CA2495872650 | MSH2 | c.2005+40T= (n.2005+40T=) c.1807+40T= (n.1807+40T=) c.*305+40T= (n.*305+40T=) c.*401+40T= (n.*401+40T=) c.*545+40T= (n.*545+40T=) c.*771+40T= (n.*771+40T=) c.*977+40T= (n.*977+40T=) n.2077+40T= n.2067+40T= | |
2 | g.47475310_47475312delinsTTG | CA2495872649 | MSH2 | c.2005+40_2005+42delinsTTG (n.2005+40_2005+42delinsTTG) c.1807+40_1807+42delinsTTG (n.1807+40_1807+42delinsTTG) c.*305+40_*305+42delinsTTG (n.*305+40_*305+42delinsTTG) c.*401+40_*401+42delinsTTG (n.*401+40_*401+42delinsTTG) c.*545+40_*545+42delinsTTG (n.*545+40_*545+42delinsTTG) c.*771+40_*771+42delinsTTG (n.*771+40_*771+42delinsTTG) c.*977+40_*977+42delinsTTG (n.*977+40_*977+42delinsTTG) n.2077+40_2077+42delinsTTG n.2067+40_2067+42delinsTTG | |
2 | g.47475312_47475314del | CA032786 | MSH2 | c.2005+42_2005+44del (n.2005+42_2005+44del) c.1807+42_1807+44del (n.1807+42_1807+44del) c.*305+42_*305+44del (n.*305+42_*305+44del) c.*401+42_*401+44del (n.*401+42_*401+44del) c.*545+42_*545+44del (n.*545+42_*545+44del) c.*771+42_*771+44del (n.*771+42_*771+44del) c.*977+42_*977+44del (n.*977+42_*977+44del) n.2077+42_2077+44del n.2067+42_2067+44del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475311T= | CA2495872651 | MSH2 | c.2005+41T= (n.2005+41T=) c.1807+41T= (n.1807+41T=) c.*305+41T= (n.*305+41T=) c.*401+41T= (n.*401+41T=) c.*545+41T= (n.*545+41T=) c.*771+41T= (n.*771+41T=) c.*977+41T= (n.*977+41T=) n.2077+41T= n.2067+41T= | |
2 | g.47475311_47475312delinsTG | CA2495872652 | MSH2 | c.2005+41_2005+42delinsTG (n.2005+41_2005+42delinsTG) c.1807+41_1807+42delinsTG (n.1807+41_1807+42delinsTG) c.*305+41_*305+42delinsTG (n.*305+41_*305+42delinsTG) c.*401+41_*401+42delinsTG (n.*401+41_*401+42delinsTG) c.*545+41_*545+42delinsTG (n.*545+41_*545+42delinsTG) c.*771+41_*771+42delinsTG (n.*771+41_*771+42delinsTG) c.*977+41_*977+42delinsTG (n.*977+41_*977+42delinsTG) n.2077+41_2077+42delinsTG n.2067+41_2067+42delinsTG | |
2 | g.47475312_47475313del | CA032806 | MSH2 | c.2005+42_2005+43del (n.2005+42_2005+43del) c.1807+42_1807+43del (n.1807+42_1807+43del) c.*305+42_*305+43del (n.*305+42_*305+43del) c.*401+42_*401+43del (n.*401+42_*401+43del) c.*545+42_*545+43del (n.*545+42_*545+43del) c.*771+42_*771+43del (n.*771+42_*771+43del) c.*977+42_*977+43del (n.*977+42_*977+43del) n.2077+42_2077+43del n.2067+42_2067+43del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475311_47475312insTG | CA46700930 | MSH2 | c.2005+41_2005+42insTG (n.2005+41_2005+42insTG) c.1807+41_1807+42insTG (n.1807+41_1807+42insTG) c.*305+41_*305+42insTG (n.*305+41_*305+42insTG) c.*401+41_*401+42insTG (n.*401+41_*401+42insTG) c.*545+41_*545+42insTG (n.*545+41_*545+42insTG) c.*771+41_*771+42insTG (n.*771+41_*771+42insTG) c.*977+41_*977+42insTG (n.*977+41_*977+42insTG) n.2077+41_2077+42insTG n.2067+41_2067+42insTG | |
2 | g.47475312del | CA032933 | MSH2 | c.2005+42del (n.2005+42del) c.1807+42del (n.1807+42del) c.*305+42del (n.*305+42del) c.*401+42del (n.*401+42del) c.*545+42del (n.*545+42del) c.*771+42del (n.*771+42del) c.*977+42del (n.*977+42del) n.2077+42del n.2067+42del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475312G>C | CA2495872655 | MSH2 | c.2005+42G>C (n.2005+42G>C) c.1807+42G>C (n.1807+42G>C) c.*305+42G>C (n.*305+42G>C) c.*401+42G>C (n.*401+42G>C) c.*545+42G>C (n.*545+42G>C) c.*771+42G>C (n.*771+42G>C) c.*977+42G>C (n.*977+42G>C) n.2077+42G>C n.2067+42G>C | dbSNP |
2 | g.47475312G= | CA2495872653 | MSH2 | c.2005+42G= (n.2005+42G=) c.1807+42G= (n.1807+42G=) c.*305+42G= (n.*305+42G=) c.*401+42G= (n.*401+42G=) c.*545+42G= (n.*545+42G=) c.*771+42G= (n.*771+42G=) c.*977+42G= (n.*977+42G=) n.2077+42G= n.2067+42G= | |
2 | g.47475312G>T | CA1649284 | MSH2 | c.2005+42G>T (n.2005+42G>T) c.1807+42G>T (n.1807+42G>T) c.*305+42G>T (n.*305+42G>T) c.*401+42G>T (n.*401+42G>T) c.*545+42G>T (n.*545+42G>T) c.*771+42G>T (n.*771+42G>T) c.*977+42G>T (n.*977+42G>T) n.2077+42G>T n.2067+42G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475312dup | CA1649278 | MSH2 | c.2005+42dup (n.2005+42dup) c.1807+42dup (n.1807+42dup) c.*305+42dup (n.*305+42dup) c.*401+42dup (n.*401+42dup) c.*545+42dup (n.*545+42dup) c.*771+42dup (n.*771+42dup) c.*977+42dup (n.*977+42dup) n.2077+42dup n.2067+42dup | dbSNP ExAC gnomAD v4 |
2 | g.47475312_47475324delinsGTTTTTTTTTTTT | CA2495872654 | MSH2 | c.2005+42_2005+54delinsGTTTTTTTTTTTT (n.2005+42_2005+54delinsGTTTTTTTTTTTT) c.1807+42_1807+54delinsGTTTTTTTTTTTT (n.1807+42_1807+54delinsGTTTTTTTTTTTT) c.*305+42_*305+54delinsGTTTTTTTTTTTT (n.*305+42_*305+54delinsGTTTTTTTTTTTT) c.*401+42_*401+54delinsGTTTTTTTTTTTT (n.*401+42_*401+54delinsGTTTTTTTTTTTT) c.*545+42_*545+54delinsGTTTTTTTTTTTT (n.*545+42_*545+54delinsGTTTTTTTTTTTT) c.*771+42_*771+54delinsGTTTTTTTTTTTT (n.*771+42_*771+54delinsGTTTTTTTTTTTT) c.*977+42_*977+54delinsGTTTTTTTTTTTT (n.*977+42_*977+54delinsGTTTTTTTTTTTT) n.2077+42_2077+54delinsGTTTTTTTTTTTT n.2067+42_2067+54delinsGTTTTTTTTTTTT | |
2 | g.47475312_47475313insGT | CA2658948119 | MSH2 | c.2005+42_2005+43insGT (n.2005+42_2005+43insGT) c.1807+42_1807+43insGT (n.1807+42_1807+43insGT) c.*305+42_*305+43insGT (n.*305+42_*305+43insGT) c.*401+42_*401+43insGT (n.*401+42_*401+43insGT) c.*545+42_*545+43insGT (n.*545+42_*545+43insGT) c.*771+42_*771+43insGT (n.*771+42_*771+43insGT) c.*977+42_*977+43insGT (n.*977+42_*977+43insGT) n.2077+42_2077+43insGT n.2067+42_2067+43insGT | gnomAD v4 |
2 | g.47475313T>A | CA532705093 | MSH2 | c.2005+43T>A (n.2005+43T>A) c.1807+43T>A (n.1807+43T>A) c.*305+43T>A (n.*305+43T>A) c.*401+43T>A (n.*401+43T>A) c.*545+43T>A (n.*545+43T>A) c.*771+43T>A (n.*771+43T>A) c.*977+43T>A (n.*977+43T>A) n.2077+43T>A n.2067+43T>A | dbSNP gnomAD v2 |
2 | g.47475313T>G | CA46700948 | MSH2 | c.2005+43T>G (n.2005+43T>G) c.1807+43T>G (n.1807+43T>G) c.*305+43T>G (n.*305+43T>G) c.*401+43T>G (n.*401+43T>G) c.*545+43T>G (n.*545+43T>G) c.*771+43T>G (n.*771+43T>G) c.*977+43T>G (n.*977+43T>G) n.2077+43T>G n.2067+43T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475313T= | CA2495872656 | MSH2 | c.2005+43T= (n.2005+43T=) c.1807+43T= (n.1807+43T=) c.*305+43T= (n.*305+43T=) c.*401+43T= (n.*401+43T=) c.*545+43T= (n.*545+43T=) c.*771+43T= (n.*771+43T=) c.*977+43T= (n.*977+43T=) n.2077+43T= n.2067+43T= | |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTT | CA2658948118 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTT | CA1030270173 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270175 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTT | CA916529060 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270178 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2597416853 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270183 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2597416855 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270185 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1030270187 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2658948112 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA916529059 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2658948114 | MSH2 | c.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
2 | g.47475331_47475332insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT | CA2658948113 | MSH2 | c.2005+61_2005+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT (n.2005+61_2005+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT) c.1807+61_1807+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT (n.1807+61_1807+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*305+61_*305+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*305+61_*305+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*401+61_*401+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*401+61_*401+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*545+61_*545+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*545+61_*545+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*771+61_*771+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*771+61_*771+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT) c.*977+61_*977+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT (n.*977+61_*977+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT) n.2077+61_2077+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT n.2067+61_2067+62insTTTTTTTTGGTTTTAAGTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
2 | g.47475331dup | CA1649280 | MSH2 | c.2005+61dup (n.2005+61dup) c.1807+61dup (n.1807+61dup) c.*305+61dup (n.*305+61dup) c.*401+61dup (n.*401+61dup) c.*545+61dup (n.*545+61dup) c.*771+61dup (n.*771+61dup) c.*977+61dup (n.*977+61dup) n.2077+61dup n.2067+61dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475330_47475331dup | CA532705094 | MSH2 | c.2005+60_2005+61dup (n.2005+60_2005+61dup) c.1807+60_1807+61dup (n.1807+60_1807+61dup) c.*305+60_*305+61dup (n.*305+60_*305+61dup) c.*401+60_*401+61dup (n.*401+60_*401+61dup) c.*545+60_*545+61dup (n.*545+60_*545+61dup) c.*771+60_*771+61dup (n.*771+60_*771+61dup) c.*977+60_*977+61dup (n.*977+60_*977+61dup) n.2077+60_2077+61dup n.2067+60_2067+61dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475329_47475331dup | CA1649279 | MSH2 | c.2005+59_2005+61dup (n.2005+59_2005+61dup) c.1807+59_1807+61dup (n.1807+59_1807+61dup) c.*305+59_*305+61dup (n.*305+59_*305+61dup) c.*401+59_*401+61dup (n.*401+59_*401+61dup) c.*545+59_*545+61dup (n.*545+59_*545+61dup) c.*771+59_*771+61dup (n.*771+59_*771+61dup) c.*977+59_*977+61dup (n.*977+59_*977+61dup) n.2077+59_2077+61dup n.2067+59_2067+61dup | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.47475328_47475331dup | CA1030270206 | MSH2 | c.2005+58_2005+61dup (n.2005+58_2005+61dup) c.1807+58_1807+61dup (n.1807+58_1807+61dup) c.*305+58_*305+61dup (n.*305+58_*305+61dup) c.*401+58_*401+61dup (n.*401+58_*401+61dup) c.*545+58_*545+61dup (n.*545+58_*545+61dup) c.*771+58_*771+61dup (n.*771+58_*771+61dup) c.*977+58_*977+61dup (n.*977+58_*977+61dup) n.2077+58_2077+61dup n.2067+58_2067+61dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475327_47475331dup | CA1649283 | MSH2 | c.2005+57_2005+61dup (n.2005+57_2005+61dup) c.1807+57_1807+61dup (n.1807+57_1807+61dup) c.*305+57_*305+61dup (n.*305+57_*305+61dup) c.*401+57_*401+61dup (n.*401+57_*401+61dup) c.*545+57_*545+61dup (n.*545+57_*545+61dup) c.*771+57_*771+61dup (n.*771+57_*771+61dup) c.*977+57_*977+61dup (n.*977+57_*977+61dup) n.2077+57_2077+61dup n.2067+57_2067+61dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475326_47475331dup | CA532705095 | MSH2 | c.2005+56_2005+61dup (n.2005+56_2005+61dup) c.1807+56_1807+61dup (n.1807+56_1807+61dup) c.*305+56_*305+61dup (n.*305+56_*305+61dup) c.*401+56_*401+61dup (n.*401+56_*401+61dup) c.*545+56_*545+61dup (n.*545+56_*545+61dup) c.*771+56_*771+61dup (n.*771+56_*771+61dup) c.*977+56_*977+61dup (n.*977+56_*977+61dup) n.2077+56_2077+61dup n.2067+56_2067+61dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475325_47475331dup | CA1030270230 | MSH2 | c.2005+55_2005+61dup (n.2005+55_2005+61dup) c.1807+55_1807+61dup (n.1807+55_1807+61dup) c.*305+55_*305+61dup (n.*305+55_*305+61dup) c.*401+55_*401+61dup (n.*401+55_*401+61dup) c.*545+55_*545+61dup (n.*545+55_*545+61dup) c.*771+55_*771+61dup (n.*771+55_*771+61dup) c.*977+55_*977+61dup (n.*977+55_*977+61dup) n.2077+55_2077+61dup n.2067+55_2067+61dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475324_47475331dup | CA1030270235 | MSH2 | c.2005+54_2005+61dup (n.2005+54_2005+61dup) c.1807+54_1807+61dup (n.1807+54_1807+61dup) c.*305+54_*305+61dup (n.*305+54_*305+61dup) c.*401+54_*401+61dup (n.*401+54_*401+61dup) c.*545+54_*545+61dup (n.*545+54_*545+61dup) c.*771+54_*771+61dup (n.*771+54_*771+61dup) c.*977+54_*977+61dup (n.*977+54_*977+61dup) n.2077+54_2077+61dup n.2067+54_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475323_47475331dup | CA2658948120 | MSH2 | c.2005+53_2005+61dup (n.2005+53_2005+61dup) c.1807+53_1807+61dup (n.1807+53_1807+61dup) c.*305+53_*305+61dup (n.*305+53_*305+61dup) c.*401+53_*401+61dup (n.*401+53_*401+61dup) c.*545+53_*545+61dup (n.*545+53_*545+61dup) c.*771+53_*771+61dup (n.*771+53_*771+61dup) c.*977+53_*977+61dup (n.*977+53_*977+61dup) n.2077+53_2077+61dup n.2067+53_2067+61dup | gnomAD v4 |
2 | g.47475322_47475331dup | CA1030270237 | MSH2 | c.2005+52_2005+61dup (n.2005+52_2005+61dup) c.1807+52_1807+61dup (n.1807+52_1807+61dup) c.*305+52_*305+61dup (n.*305+52_*305+61dup) c.*401+52_*401+61dup (n.*401+52_*401+61dup) c.*545+52_*545+61dup (n.*545+52_*545+61dup) c.*771+52_*771+61dup (n.*771+52_*771+61dup) c.*977+52_*977+61dup (n.*977+52_*977+61dup) n.2077+52_2077+61dup n.2067+52_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475321_47475331dup | CA1030270244 | MSH2 | c.2005+51_2005+61dup (n.2005+51_2005+61dup) c.1807+51_1807+61dup (n.1807+51_1807+61dup) c.*305+51_*305+61dup (n.*305+51_*305+61dup) c.*401+51_*401+61dup (n.*401+51_*401+61dup) c.*545+51_*545+61dup (n.*545+51_*545+61dup) c.*771+51_*771+61dup (n.*771+51_*771+61dup) c.*977+51_*977+61dup (n.*977+51_*977+61dup) n.2077+51_2077+61dup n.2067+51_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475320_47475331dup | CA1030270249 | MSH2 | c.2005+50_2005+61dup (n.2005+50_2005+61dup) c.1807+50_1807+61dup (n.1807+50_1807+61dup) c.*305+50_*305+61dup (n.*305+50_*305+61dup) c.*401+50_*401+61dup (n.*401+50_*401+61dup) c.*545+50_*545+61dup (n.*545+50_*545+61dup) c.*771+50_*771+61dup (n.*771+50_*771+61dup) c.*977+50_*977+61dup (n.*977+50_*977+61dup) n.2077+50_2077+61dup n.2067+50_2067+61dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475319_47475331dup | CA1030270167 | MSH2 | c.2005+49_2005+61dup (n.2005+49_2005+61dup) c.1807+49_1807+61dup (n.1807+49_1807+61dup) c.*305+49_*305+61dup (n.*305+49_*305+61dup) c.*401+49_*401+61dup (n.*401+49_*401+61dup) c.*545+49_*545+61dup (n.*545+49_*545+61dup) c.*771+49_*771+61dup (n.*771+49_*771+61dup) c.*977+49_*977+61dup (n.*977+49_*977+61dup) n.2077+49_2077+61dup n.2067+49_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475318_47475331dup | CA1030270255 | MSH2 | c.2005+48_2005+61dup (n.2005+48_2005+61dup) c.1807+48_1807+61dup (n.1807+48_1807+61dup) c.*305+48_*305+61dup (n.*305+48_*305+61dup) c.*401+48_*401+61dup (n.*401+48_*401+61dup) c.*545+48_*545+61dup (n.*545+48_*545+61dup) c.*771+48_*771+61dup (n.*771+48_*771+61dup) c.*977+48_*977+61dup (n.*977+48_*977+61dup) n.2077+48_2077+61dup n.2067+48_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475317_47475331dup | CA1030270266 | MSH2 | c.2005+47_2005+61dup (n.2005+47_2005+61dup) c.1807+47_1807+61dup (n.1807+47_1807+61dup) c.*305+47_*305+61dup (n.*305+47_*305+61dup) c.*401+47_*401+61dup (n.*401+47_*401+61dup) c.*545+47_*545+61dup (n.*545+47_*545+61dup) c.*771+47_*771+61dup (n.*771+47_*771+61dup) c.*977+47_*977+61dup (n.*977+47_*977+61dup) n.2077+47_2077+61dup n.2067+47_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475316_47475331dup | CA1030270268 | MSH2 | c.2005+46_2005+61dup (n.2005+46_2005+61dup) c.1807+46_1807+61dup (n.1807+46_1807+61dup) c.*305+46_*305+61dup (n.*305+46_*305+61dup) c.*401+46_*401+61dup (n.*401+46_*401+61dup) c.*545+46_*545+61dup (n.*545+46_*545+61dup) c.*771+46_*771+61dup (n.*771+46_*771+61dup) c.*977+46_*977+61dup (n.*977+46_*977+61dup) n.2077+46_2077+61dup n.2067+46_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475315_47475331dup | CA1030270199 | MSH2 | c.2005+45_2005+61dup (n.2005+45_2005+61dup) c.1807+45_1807+61dup (n.1807+45_1807+61dup) c.*305+45_*305+61dup (n.*305+45_*305+61dup) c.*401+45_*401+61dup (n.*401+45_*401+61dup) c.*545+45_*545+61dup (n.*545+45_*545+61dup) c.*771+45_*771+61dup (n.*771+45_*771+61dup) c.*977+45_*977+61dup (n.*977+45_*977+61dup) n.2077+45_2077+61dup n.2067+45_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475314_47475331dup | CA1030270269 | MSH2 | c.2005+44_2005+61dup (n.2005+44_2005+61dup) c.1807+44_1807+61dup (n.1807+44_1807+61dup) c.*305+44_*305+61dup (n.*305+44_*305+61dup) c.*401+44_*401+61dup (n.*401+44_*401+61dup) c.*545+44_*545+61dup (n.*545+44_*545+61dup) c.*771+44_*771+61dup (n.*771+44_*771+61dup) c.*977+44_*977+61dup (n.*977+44_*977+61dup) n.2077+44_2077+61dup n.2067+44_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475313_47475331dup | CA1030270180 | MSH2 | c.2005+43_2005+61dup (n.2005+43_2005+61dup) c.1807+43_1807+61dup (n.1807+43_1807+61dup) c.*305+43_*305+61dup (n.*305+43_*305+61dup) c.*401+43_*401+61dup (n.*401+43_*401+61dup) c.*545+43_*545+61dup (n.*545+43_*545+61dup) c.*771+43_*771+61dup (n.*771+43_*771+61dup) c.*977+43_*977+61dup (n.*977+43_*977+61dup) n.2077+43_2077+61dup n.2067+43_2067+61dup | gnomAD v3 gnomAD v4 |
2 | g.47475331del | CA1649282 | MSH2 | c.2005+61del (n.2005+61del) c.1807+61del (n.1807+61del) c.*305+61del (n.*305+61del) c.*401+61del (n.*401+61del) c.*545+61del (n.*545+61del) c.*771+61del (n.*771+61del) c.*977+61del (n.*977+61del) n.2077+61del n.2067+61del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.47475330_47475331del | CA1649281 | MSH2 | c.2005+60_2005+61del (n.2005+60_2005+61del) c.1807+60_1807+61del (n.1807+60_1807+61del) c.*305+60_*305+61del (n.*305+60_*305+61del) c.*401+60_*401+61del (n.*401+60_*401+61del) c.*545+60_*545+61del (n.*545+60_*545+61del) c.*771+60_*771+61del (n.*771+60_*771+61del) c.*977+60_*977+61del (n.*977+60_*977+61del) n.2077+60_2077+61del n.2067+60_2067+61del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475329_47475331del | CA1030270195 | MSH2 | c.2005+59_2005+61del (n.2005+59_2005+61del) c.1807+59_1807+61del (n.1807+59_1807+61del) c.*305+59_*305+61del (n.*305+59_*305+61del) c.*401+59_*401+61del (n.*401+59_*401+61del) c.*545+59_*545+61del (n.*545+59_*545+61del) c.*771+59_*771+61del (n.*771+59_*771+61del) c.*977+59_*977+61del (n.*977+59_*977+61del) n.2077+59_2077+61del n.2067+59_2067+61del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475328_47475331del | CA46700973 | MSH2 | c.2005+58_2005+61del (n.2005+58_2005+61del) c.1807+58_1807+61del (n.1807+58_1807+61del) c.*305+58_*305+61del (n.*305+58_*305+61del) c.*401+58_*401+61del (n.*401+58_*401+61del) c.*545+58_*545+61del (n.*545+58_*545+61del) c.*771+58_*771+61del (n.*771+58_*771+61del) c.*977+58_*977+61del (n.*977+58_*977+61del) n.2077+58_2077+61del n.2067+58_2067+61del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475327_47475331del | CA2513403489 | MSH2 | c.2005+57_2005+61del (n.2005+57_2005+61del) c.1807+57_1807+61del (n.1807+57_1807+61del) c.*305+57_*305+61del (n.*305+57_*305+61del) c.*401+57_*401+61del (n.*401+57_*401+61del) c.*545+57_*545+61del (n.*545+57_*545+61del) c.*771+57_*771+61del (n.*771+57_*771+61del) c.*977+57_*977+61del (n.*977+57_*977+61del) n.2077+57_2077+61del n.2067+57_2067+61del | gnomAD v4 |
2 | g.47475326_47475331del | CA2495872657 | MSH2 | c.2005+56_2005+61del (n.2005+56_2005+61del) c.1807+56_1807+61del (n.1807+56_1807+61del) c.*305+56_*305+61del (n.*305+56_*305+61del) c.*401+56_*401+61del (n.*401+56_*401+61del) c.*545+56_*545+61del (n.*545+56_*545+61del) c.*771+56_*771+61del (n.*771+56_*771+61del) c.*977+56_*977+61del (n.*977+56_*977+61del) n.2077+56_2077+61del n.2067+56_2067+61del | dbSNP gnomAD v4 |
2 | g.47475325_47475331del | CA2658948115 | MSH2 | c.2005+55_2005+61del (n.2005+55_2005+61del) c.1807+55_1807+61del (n.1807+55_1807+61del) c.*305+55_*305+61del (n.*305+55_*305+61del) c.*401+55_*401+61del (n.*401+55_*401+61del) c.*545+55_*545+61del (n.*545+55_*545+61del) c.*771+55_*771+61del (n.*771+55_*771+61del) c.*977+55_*977+61del (n.*977+55_*977+61del) n.2077+55_2077+61del n.2067+55_2067+61del | gnomAD v4 |
2 | g.47475324_47475331del | CA2576961024 | MSH2 | c.2005+54_2005+61del (n.2005+54_2005+61del) c.1807+54_1807+61del (n.1807+54_1807+61del) c.*305+54_*305+61del (n.*305+54_*305+61del) c.*401+54_*401+61del (n.*401+54_*401+61del) c.*545+54_*545+61del (n.*545+54_*545+61del) c.*771+54_*771+61del (n.*771+54_*771+61del) c.*977+54_*977+61del (n.*977+54_*977+61del) n.2077+54_2077+61del n.2067+54_2067+61del | gnomAD v4 |
2 | g.47475323_47475331del | CA2658948116 | MSH2 | c.2005+53_2005+61del (n.2005+53_2005+61del) c.1807+53_1807+61del (n.1807+53_1807+61del) c.*305+53_*305+61del (n.*305+53_*305+61del) c.*401+53_*401+61del (n.*401+53_*401+61del) c.*545+53_*545+61del (n.*545+53_*545+61del) c.*771+53_*771+61del (n.*771+53_*771+61del) c.*977+53_*977+61del (n.*977+53_*977+61del) n.2077+53_2077+61del n.2067+53_2067+61del | gnomAD v4 |
2 | g.47475322_47475331del | CA2495872658 | MSH2 | c.2005+52_2005+61del (n.2005+52_2005+61del) c.1807+52_1807+61del (n.1807+52_1807+61del) c.*305+52_*305+61del (n.*305+52_*305+61del) c.*401+52_*401+61del (n.*401+52_*401+61del) c.*545+52_*545+61del (n.*545+52_*545+61del) c.*771+52_*771+61del (n.*771+52_*771+61del) c.*977+52_*977+61del (n.*977+52_*977+61del) n.2077+52_2077+61del n.2067+52_2067+61del | dbSNP gnomAD v4 |
2 | g.47475321_47475331del | CA2658948117 | MSH2 | c.2005+51_2005+61del (n.2005+51_2005+61del) c.1807+51_1807+61del (n.1807+51_1807+61del) c.*305+51_*305+61del (n.*305+51_*305+61del) c.*401+51_*401+61del (n.*401+51_*401+61del) c.*545+51_*545+61del (n.*545+51_*545+61del) c.*771+51_*771+61del (n.*771+51_*771+61del) c.*977+51_*977+61del (n.*977+51_*977+61del) n.2077+51_2077+61del n.2067+51_2067+61del | gnomAD v4 |
2 | g.47475320_47475331del | CA1030270196 | MSH2 | c.2005+50_2005+61del (n.2005+50_2005+61del) c.1807+50_1807+61del (n.1807+50_1807+61del) c.*305+50_*305+61del (n.*305+50_*305+61del) c.*401+50_*401+61del (n.*401+50_*401+61del) c.*545+50_*545+61del (n.*545+50_*545+61del) c.*771+50_*771+61del (n.*771+50_*771+61del) c.*977+50_*977+61del (n.*977+50_*977+61del) n.2077+50_2077+61del n.2067+50_2067+61del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475313_47475314insG | CA2658948121 | MSH2 | c.2005+43_2005+44insG (n.2005+43_2005+44insG) c.1807+43_1807+44insG (n.1807+43_1807+44insG) c.*305+43_*305+44insG (n.*305+43_*305+44insG) c.*401+43_*401+44insG (n.*401+43_*401+44insG) c.*545+43_*545+44insG (n.*545+43_*545+44insG) c.*771+43_*771+44insG (n.*771+43_*771+44insG) c.*977+43_*977+44insG (n.*977+43_*977+44insG) n.2077+43_2077+44insG n.2067+43_2067+44insG | gnomAD v4 |
2 | g.47475314T>G | CA032950 | MSH2 | c.2005+44T>G (n.2005+44T>G) c.1807+44T>G (n.1807+44T>G) c.*305+44T>G (n.*305+44T>G) c.*401+44T>G (n.*401+44T>G) c.*545+44T>G (n.*545+44T>G) c.*771+44T>G (n.*771+44T>G) c.*977+44T>G (n.*977+44T>G) n.2077+44T>G n.2067+44T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475314T= | CA2495872659 | MSH2 | c.2005+44T= (n.2005+44T=) c.1807+44T= (n.1807+44T=) c.*305+44T= (n.*305+44T=) c.*401+44T= (n.*401+44T=) c.*545+44T= (n.*545+44T=) c.*771+44T= (n.*771+44T=) c.*977+44T= (n.*977+44T=) n.2077+44T= n.2067+44T= | |
2 | g.47475314_47475315insG | CA532705096 | MSH2 | c.2005+44_2005+45insG (n.2005+44_2005+45insG) c.1807+44_1807+45insG (n.1807+44_1807+45insG) c.*305+44_*305+45insG (n.*305+44_*305+45insG) c.*401+44_*401+45insG (n.*401+44_*401+45insG) c.*545+44_*545+45insG (n.*545+44_*545+45insG) c.*771+44_*771+45insG (n.*771+44_*771+45insG) c.*977+44_*977+45insG (n.*977+44_*977+45insG) n.2077+44_2077+45insG n.2067+44_2067+45insG | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475315T>G | CA532705097 | MSH2 | c.2005+45T>G (n.2005+45T>G) c.1807+45T>G (n.1807+45T>G) c.*305+45T>G (n.*305+45T>G) c.*401+45T>G (n.*401+45T>G) c.*545+45T>G (n.*545+45T>G) c.*771+45T>G (n.*771+45T>G) c.*977+45T>G (n.*977+45T>G) n.2077+45T>G n.2067+45T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475315T= | CA2495872660 | MSH2 | c.2005+45T= (n.2005+45T=) c.1807+45T= (n.1807+45T=) c.*305+45T= (n.*305+45T=) c.*401+45T= (n.*401+45T=) c.*545+45T= (n.*545+45T=) c.*771+45T= (n.*771+45T=) c.*977+45T= (n.*977+45T=) n.2077+45T= n.2067+45T= | |
2 | g.47475316_47475317insGTT | CA2658948122 | MSH2 | c.2005+46_2005+47insGTT (n.2005+46_2005+47insGTT) c.1807+46_1807+47insGTT (n.1807+46_1807+47insGTT) c.*305+46_*305+47insGTT (n.*305+46_*305+47insGTT) c.*401+46_*401+47insGTT (n.*401+46_*401+47insGTT) c.*545+46_*545+47insGTT (n.*545+46_*545+47insGTT) c.*771+46_*771+47insGTT (n.*771+46_*771+47insGTT) c.*977+46_*977+47insGTT (n.*977+46_*977+47insGTT) n.2077+46_2077+47insGTT n.2067+46_2067+47insGTT | gnomAD v4 |
2 | g.47475315_47475316insG | CA2495872662 | MSH2 | c.2005+45_2005+46insG (n.2005+45_2005+46insG) c.1807+45_1807+46insG (n.1807+45_1807+46insG) c.*305+45_*305+46insG (n.*305+45_*305+46insG) c.*401+45_*401+46insG (n.*401+45_*401+46insG) c.*545+45_*545+46insG (n.*545+45_*545+46insG) c.*771+45_*771+46insG (n.*771+45_*771+46insG) c.*977+45_*977+46insG (n.*977+45_*977+46insG) n.2077+45_2077+46insG n.2067+45_2067+46insG | dbSNP gnomAD v4 |
2 | g.47475316T>C | CA2576961025 | MSH2 | c.2005+46T>C (n.2005+46T>C) c.1807+46T>C (n.1807+46T>C) c.*305+46T>C (n.*305+46T>C) c.*401+46T>C (n.*401+46T>C) c.*545+46T>C (n.*545+46T>C) c.*771+46T>C (n.*771+46T>C) c.*977+46T>C (n.*977+46T>C) n.2077+46T>C n.2067+46T>C | |
2 | g.47475316T>G | CA46701034 | MSH2 | c.2005+46T>G (n.2005+46T>G) c.1807+46T>G (n.1807+46T>G) c.*305+46T>G (n.*305+46T>G) c.*401+46T>G (n.*401+46T>G) c.*545+46T>G (n.*545+46T>G) c.*771+46T>G (n.*771+46T>G) c.*977+46T>G (n.*977+46T>G) n.2077+46T>G n.2067+46T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475316T= | CA2495872661 | MSH2 | c.2005+46T= (n.2005+46T=) c.1807+46T= (n.1807+46T=) c.*305+46T= (n.*305+46T=) c.*401+46T= (n.*401+46T=) c.*545+46T= (n.*545+46T=) c.*771+46T= (n.*771+46T=) c.*977+46T= (n.*977+46T=) n.2077+46T= n.2067+46T= | |
2 | g.47475316_47475317insGT | CA032975 | MSH2 | c.2005+46_2005+47insGT (n.2005+46_2005+47insGT) c.1807+46_1807+47insGT (n.1807+46_1807+47insGT) c.*305+46_*305+47insGT (n.*305+46_*305+47insGT) c.*401+46_*401+47insGT (n.*401+46_*401+47insGT) c.*545+46_*545+47insGT (n.*545+46_*545+47insGT) c.*771+46_*771+47insGT (n.*771+46_*771+47insGT) c.*977+46_*977+47insGT (n.*977+46_*977+47insGT) n.2077+46_2077+47insGT n.2067+46_2067+47insGT | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475316_47475317insC | CA1649286 | MSH2 | c.2005+46_2005+47insC (n.2005+46_2005+47insC) c.1807+46_1807+47insC (n.1807+46_1807+47insC) c.*305+46_*305+47insC (n.*305+46_*305+47insC) c.*401+46_*401+47insC (n.*401+46_*401+47insC) c.*545+46_*545+47insC (n.*545+46_*545+47insC) c.*771+46_*771+47insC (n.*771+46_*771+47insC) c.*977+46_*977+47insC (n.*977+46_*977+47insC) n.2077+46_2077+47insC n.2067+46_2067+47insC | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47475316_47475317insG | CA1649285 | MSH2 | c.2005+46_2005+47insG (n.2005+46_2005+47insG) c.1807+46_1807+47insG (n.1807+46_1807+47insG) c.*305+46_*305+47insG (n.*305+46_*305+47insG) c.*401+46_*401+47insG (n.*401+46_*401+47insG) c.*545+46_*545+47insG (n.*545+46_*545+47insG) c.*771+46_*771+47insG (n.*771+46_*771+47insG) c.*977+46_*977+47insG (n.*977+46_*977+47insG) n.2077+46_2077+47insG n.2067+46_2067+47insG | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475317T>C | CA2658948123 | MSH2 | c.2005+47T>C (n.2005+47T>C) c.1807+47T>C (n.1807+47T>C) c.*305+47T>C (n.*305+47T>C) c.*401+47T>C (n.*401+47T>C) c.*545+47T>C (n.*545+47T>C) c.*771+47T>C (n.*771+47T>C) c.*977+47T>C (n.*977+47T>C) n.2077+47T>C n.2067+47T>C | gnomAD v4 |
2 | g.47475317T>G | CA033024 | MSH2 | c.2005+47T>G (n.2005+47T>G) c.1807+47T>G (n.1807+47T>G) c.*305+47T>G (n.*305+47T>G) c.*401+47T>G (n.*401+47T>G) c.*545+47T>G (n.*545+47T>G) c.*771+47T>G (n.*771+47T>G) c.*977+47T>G (n.*977+47T>G) n.2077+47T>G n.2067+47T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.47475317T= | CA2495872663 | MSH2 | c.2005+47T= (n.2005+47T=) c.1807+47T= (n.1807+47T=) c.*305+47T= (n.*305+47T=) c.*401+47T= (n.*401+47T=) c.*545+47T= (n.*545+47T=) c.*771+47T= (n.*771+47T=) c.*977+47T= (n.*977+47T=) n.2077+47T= n.2067+47T= | |
2 | g.47475317_47475318insG | CA532705098 | MSH2 | c.2005+47_2005+48insG (n.2005+47_2005+48insG) c.1807+47_1807+48insG (n.1807+47_1807+48insG) c.*305+47_*305+48insG (n.*305+47_*305+48insG) c.*401+47_*401+48insG (n.*401+47_*401+48insG) c.*545+47_*545+48insG (n.*545+47_*545+48insG) c.*771+47_*771+48insG (n.*771+47_*771+48insG) c.*977+47_*977+48insG (n.*977+47_*977+48insG) n.2077+47_2077+48insG n.2067+47_2067+48insG | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475318T>C | CA532705099 | MSH2 | c.2005+48T>C (n.2005+48T>C) c.1807+48T>C (n.1807+48T>C) c.*305+48T>C (n.*305+48T>C) c.*401+48T>C (n.*401+48T>C) c.*545+48T>C (n.*545+48T>C) c.*771+48T>C (n.*771+48T>C) c.*977+48T>C (n.*977+48T>C) n.2077+48T>C n.2067+48T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475318T>G | CA033039 | MSH2 | c.2005+48T>G (n.2005+48T>G) c.1807+48T>G (n.1807+48T>G) c.*305+48T>G (n.*305+48T>G) c.*401+48T>G (n.*401+48T>G) c.*545+48T>G (n.*545+48T>G) c.*771+48T>G (n.*771+48T>G) c.*977+48T>G (n.*977+48T>G) n.2077+48T>G n.2067+48T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475318T= | CA2495872664 | MSH2 | c.2005+48T= (n.2005+48T=) c.1807+48T= (n.1807+48T=) c.*305+48T= (n.*305+48T=) c.*401+48T= (n.*401+48T=) c.*545+48T= (n.*545+48T=) c.*771+48T= (n.*771+48T=) c.*977+48T= (n.*977+48T=) n.2077+48T= n.2067+48T= | |
2 | g.47475318_47475319insGT | CA2658948124 | MSH2 | c.2005+48_2005+49insGT (n.2005+48_2005+49insGT) c.1807+48_1807+49insGT (n.1807+48_1807+49insGT) c.*305+48_*305+49insGT (n.*305+48_*305+49insGT) c.*401+48_*401+49insGT (n.*401+48_*401+49insGT) c.*545+48_*545+49insGT (n.*545+48_*545+49insGT) c.*771+48_*771+49insGT (n.*771+48_*771+49insGT) c.*977+48_*977+49insGT (n.*977+48_*977+49insGT) n.2077+48_2077+49insGT n.2067+48_2067+49insGT | gnomAD v4 |
2 | g.47475318_47475319insG | CA1649287 | MSH2 | c.2005+48_2005+49insG (n.2005+48_2005+49insG) c.1807+48_1807+49insG (n.1807+48_1807+49insG) c.*305+48_*305+49insG (n.*305+48_*305+49insG) c.*401+48_*401+49insG (n.*401+48_*401+49insG) c.*545+48_*545+49insG (n.*545+48_*545+49insG) c.*771+48_*771+49insG (n.*771+48_*771+49insG) c.*977+48_*977+49insG (n.*977+48_*977+49insG) n.2077+48_2077+49insG n.2067+48_2067+49insG | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475319T>C | CA2504219877 | MSH2 | c.2005+49T>C (n.2005+49T>C) c.1807+49T>C (n.1807+49T>C) c.*305+49T>C (n.*305+49T>C) c.*401+49T>C (n.*401+49T>C) c.*545+49T>C (n.*545+49T>C) c.*771+49T>C (n.*771+49T>C) c.*977+49T>C (n.*977+49T>C) n.2077+49T>C n.2067+49T>C | gnomAD v4 |
2 | g.47475319T>G | CA033060 | MSH2 | c.2005+49T>G (n.2005+49T>G) c.1807+49T>G (n.1807+49T>G) c.*305+49T>G (n.*305+49T>G) c.*401+49T>G (n.*401+49T>G) c.*545+49T>G (n.*545+49T>G) c.*771+49T>G (n.*771+49T>G) c.*977+49T>G (n.*977+49T>G) n.2077+49T>G n.2067+49T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475319T= | CA2495872665 | MSH2 | c.2005+49T= (n.2005+49T=) c.1807+49T= (n.1807+49T=) c.*305+49T= (n.*305+49T=) c.*401+49T= (n.*401+49T=) c.*545+49T= (n.*545+49T=) c.*771+49T= (n.*771+49T=) c.*977+49T= (n.*977+49T=) n.2077+49T= n.2067+49T= | |
2 | g.47475319_47475320insC | CA532705100 | MSH2 | c.2005+49_2005+50insC (n.2005+49_2005+50insC) c.1807+49_1807+50insC (n.1807+49_1807+50insC) c.*305+49_*305+50insC (n.*305+49_*305+50insC) c.*401+49_*401+50insC (n.*401+49_*401+50insC) c.*545+49_*545+50insC (n.*545+49_*545+50insC) c.*771+49_*771+50insC (n.*771+49_*771+50insC) c.*977+49_*977+50insC (n.*977+49_*977+50insC) n.2077+49_2077+50insC n.2067+49_2067+50insC | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475319_47475320insG | CA532705101 | MSH2 | c.2005+49_2005+50insG (n.2005+49_2005+50insG) c.1807+49_1807+50insG (n.1807+49_1807+50insG) c.*305+49_*305+50insG (n.*305+49_*305+50insG) c.*401+49_*401+50insG (n.*401+49_*401+50insG) c.*545+49_*545+50insG (n.*545+49_*545+50insG) c.*771+49_*771+50insG (n.*771+49_*771+50insG) c.*977+49_*977+50insG (n.*977+49_*977+50insG) n.2077+49_2077+50insG n.2067+49_2067+50insG | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475320T>A | CA2658948125 | MSH2 | c.2005+50T>A (n.2005+50T>A) c.1807+50T>A (n.1807+50T>A) c.*305+50T>A (n.*305+50T>A) c.*401+50T>A (n.*401+50T>A) c.*545+50T>A (n.*545+50T>A) c.*771+50T>A (n.*771+50T>A) c.*977+50T>A (n.*977+50T>A) n.2077+50T>A n.2067+50T>A | dbSNP gnomAD v4 |
2 | g.47475320T>G | CA033083 | MSH2 | c.2005+50T>G (n.2005+50T>G) c.1807+50T>G (n.1807+50T>G) c.*305+50T>G (n.*305+50T>G) c.*401+50T>G (n.*401+50T>G) c.*545+50T>G (n.*545+50T>G) c.*771+50T>G (n.*771+50T>G) c.*977+50T>G (n.*977+50T>G) n.2077+50T>G n.2067+50T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475320T= | CA2495872666 | MSH2 | c.2005+50T= (n.2005+50T=) c.1807+50T= (n.1807+50T=) c.*305+50T= (n.*305+50T=) c.*401+50T= (n.*401+50T=) c.*545+50T= (n.*545+50T=) c.*771+50T= (n.*771+50T=) c.*977+50T= (n.*977+50T=) n.2077+50T= n.2067+50T= | |
2 | g.47475320_47475321insGT | CA1030270297 | MSH2 | c.2005+50_2005+51insGT (n.2005+50_2005+51insGT) c.1807+50_1807+51insGT (n.1807+50_1807+51insGT) c.*305+50_*305+51insGT (n.*305+50_*305+51insGT) c.*401+50_*401+51insGT (n.*401+50_*401+51insGT) c.*545+50_*545+51insGT (n.*545+50_*545+51insGT) c.*771+50_*771+51insGT (n.*771+50_*771+51insGT) c.*977+50_*977+51insGT (n.*977+50_*977+51insGT) n.2077+50_2077+51insGT n.2067+50_2067+51insGT | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475320_47475321insG | CA1649288 | MSH2 | c.2005+50_2005+51insG (n.2005+50_2005+51insG) c.1807+50_1807+51insG (n.1807+50_1807+51insG) c.*305+50_*305+51insG (n.*305+50_*305+51insG) c.*401+50_*401+51insG (n.*401+50_*401+51insG) c.*545+50_*545+51insG (n.*545+50_*545+51insG) c.*771+50_*771+51insG (n.*771+50_*771+51insG) c.*977+50_*977+51insG (n.*977+50_*977+51insG) n.2077+50_2077+51insG n.2067+50_2067+51insG | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475321T>C | CA532705102 | MSH2 | c.2005+51T>C (n.2005+51T>C) c.1807+51T>C (n.1807+51T>C) c.*305+51T>C (n.*305+51T>C) c.*401+51T>C (n.*401+51T>C) c.*545+51T>C (n.*545+51T>C) c.*771+51T>C (n.*771+51T>C) c.*977+51T>C (n.*977+51T>C) n.2077+51T>C n.2067+51T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.47475321T>G | CA033111 | MSH2 | c.2005+51T>G (n.2005+51T>G) c.1807+51T>G (n.1807+51T>G) c.*305+51T>G (n.*305+51T>G) c.*401+51T>G (n.*401+51T>G) c.*545+51T>G (n.*545+51T>G) c.*771+51T>G (n.*771+51T>G) c.*977+51T>G (n.*977+51T>G) n.2077+51T>G n.2067+51T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475321T= | CA2495872667 | MSH2 | c.2005+51T= (n.2005+51T=) c.1807+51T= (n.1807+51T=) c.*305+51T= (n.*305+51T=) c.*401+51T= (n.*401+51T=) c.*545+51T= (n.*545+51T=) c.*771+51T= (n.*771+51T=) c.*977+51T= (n.*977+51T=) n.2077+51T= n.2067+51T= | |
2 | g.47475321_47475322insG | CA1649289 | MSH2 | c.2005+51_2005+52insG (n.2005+51_2005+52insG) c.1807+51_1807+52insG (n.1807+51_1807+52insG) c.*305+51_*305+52insG (n.*305+51_*305+52insG) c.*401+51_*401+52insG (n.*401+51_*401+52insG) c.*545+51_*545+52insG (n.*545+51_*545+52insG) c.*771+51_*771+52insG (n.*771+51_*771+52insG) c.*977+51_*977+52insG (n.*977+51_*977+52insG) n.2077+51_2077+52insG n.2067+51_2067+52insG | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475322T>A | CA2658948126 | MSH2 | c.2005+52T>A (n.2005+52T>A) c.1807+52T>A (n.1807+52T>A) c.*305+52T>A (n.*305+52T>A) c.*401+52T>A (n.*401+52T>A) c.*545+52T>A (n.*545+52T>A) c.*771+52T>A (n.*771+52T>A) c.*977+52T>A (n.*977+52T>A) n.2077+52T>A n.2067+52T>A | gnomAD v4 |
2 | g.47475322T>C | CA2512570258 | MSH2 | c.2005+52T>C (n.2005+52T>C) c.1807+52T>C (n.1807+52T>C) c.*305+52T>C (n.*305+52T>C) c.*401+52T>C (n.*401+52T>C) c.*545+52T>C (n.*545+52T>C) c.*771+52T>C (n.*771+52T>C) c.*977+52T>C (n.*977+52T>C) n.2077+52T>C n.2067+52T>C | gnomAD v4 |
2 | g.47475322T>G | CA033127 | MSH2 | c.2005+52T>G (n.2005+52T>G) c.1807+52T>G (n.1807+52T>G) c.*305+52T>G (n.*305+52T>G) c.*401+52T>G (n.*401+52T>G) c.*545+52T>G (n.*545+52T>G) c.*771+52T>G (n.*771+52T>G) c.*977+52T>G (n.*977+52T>G) n.2077+52T>G n.2067+52T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475322T= | CA2495872668 | MSH2 | c.2005+52T= (n.2005+52T=) c.1807+52T= (n.1807+52T=) c.*305+52T= (n.*305+52T=) c.*401+52T= (n.*401+52T=) c.*545+52T= (n.*545+52T=) c.*771+52T= (n.*771+52T=) c.*977+52T= (n.*977+52T=) n.2077+52T= n.2067+52T= | |
2 | g.47475323T>C | CA2495872670 | MSH2 | c.2005+53T>C (n.2005+53T>C) c.1807+53T>C (n.1807+53T>C) c.*305+53T>C (n.*305+53T>C) c.*401+53T>C (n.*401+53T>C) c.*545+53T>C (n.*545+53T>C) c.*771+53T>C (n.*771+53T>C) c.*977+53T>C (n.*977+53T>C) n.2077+53T>C n.2067+53T>C | dbSNP |
2 | g.47475323T>G | CA769432028 | MSH2 | c.2005+53T>G (n.2005+53T>G) c.1807+53T>G (n.1807+53T>G) c.*305+53T>G (n.*305+53T>G) c.*401+53T>G (n.*401+53T>G) c.*545+53T>G (n.*545+53T>G) c.*771+53T>G (n.*771+53T>G) c.*977+53T>G (n.*977+53T>G) n.2077+53T>G n.2067+53T>G | dbSNP gnomAD v4 |
2 | g.47475323T= | CA2495872669 | MSH2 | c.2005+53T= (n.2005+53T=) c.1807+53T= (n.1807+53T=) c.*305+53T= (n.*305+53T=) c.*401+53T= (n.*401+53T=) c.*545+53T= (n.*545+53T=) c.*771+53T= (n.*771+53T=) c.*977+53T= (n.*977+53T=) n.2077+53T= n.2067+53T= | |
2 | g.47475323_47475324insA | CA2699276597 | MSH2 | c.2005+53_2005+54insA (n.2005+53_2005+54insA) c.1807+53_1807+54insA (n.1807+53_1807+54insA) c.*305+53_*305+54insA (n.*305+53_*305+54insA) c.*401+53_*401+54insA (n.*401+53_*401+54insA) c.*545+53_*545+54insA (n.*545+53_*545+54insA) c.*771+53_*771+54insA (n.*771+53_*771+54insA) c.*977+53_*977+54insA (n.*977+53_*977+54insA) n.2077+53_2077+54insA n.2067+53_2067+54insA | dbSNP |
2 | g.47475324T>C | CA2495872672 | MSH2 | c.2005+54T>C (n.2005+54T>C) c.1807+54T>C (n.1807+54T>C) c.*305+54T>C (n.*305+54T>C) c.*401+54T>C (n.*401+54T>C) c.*545+54T>C (n.*545+54T>C) c.*771+54T>C (n.*771+54T>C) c.*977+54T>C (n.*977+54T>C) n.2077+54T>C n.2067+54T>C | dbSNP gnomAD v4 |
2 | g.47475324T>G | CA2495872673 | MSH2 | c.2005+54T>G (n.2005+54T>G) c.1807+54T>G (n.1807+54T>G) c.*305+54T>G (n.*305+54T>G) c.*401+54T>G (n.*401+54T>G) c.*545+54T>G (n.*545+54T>G) c.*771+54T>G (n.*771+54T>G) c.*977+54T>G (n.*977+54T>G) n.2077+54T>G n.2067+54T>G | dbSNP |
2 | g.47475324T= | CA2495872671 | MSH2 | c.2005+54T= (n.2005+54T=) c.1807+54T= (n.1807+54T=) c.*305+54T= (n.*305+54T=) c.*401+54T= (n.*401+54T=) c.*545+54T= (n.*545+54T=) c.*771+54T= (n.*771+54T=) c.*977+54T= (n.*977+54T=) n.2077+54T= n.2067+54T= | |
2 | g.47475325T>A | CA2699276610 | MSH2 | c.2005+55T>A (n.2005+55T>A) c.1807+55T>A (n.1807+55T>A) c.*305+55T>A (n.*305+55T>A) c.*401+55T>A (n.*401+55T>A) c.*545+55T>A (n.*545+55T>A) c.*771+55T>A (n.*771+55T>A) c.*977+55T>A (n.*977+55T>A) n.2077+55T>A n.2067+55T>A | dbSNP |
2 | g.47475325T>G | CA2658948127 | MSH2 | c.2005+55T>G (n.2005+55T>G) c.1807+55T>G (n.1807+55T>G) c.*305+55T>G (n.*305+55T>G) c.*401+55T>G (n.*401+55T>G) c.*545+55T>G (n.*545+55T>G) c.*771+55T>G (n.*771+55T>G) c.*977+55T>G (n.*977+55T>G) n.2077+55T>G n.2067+55T>G | gnomAD v4 |
2 | g.47475326T>A | CA46701085 | MSH2 | c.2005+56T>A (n.2005+56T>A) c.1807+56T>A (n.1807+56T>A) c.*305+56T>A (n.*305+56T>A) c.*401+56T>A (n.*401+56T>A) c.*545+56T>A (n.*545+56T>A) c.*771+56T>A (n.*771+56T>A) c.*977+56T>A (n.*977+56T>A) n.2077+56T>A n.2067+56T>A | dbSNP |
2 | g.47475326T= | CA2495872674 | MSH2 | c.2005+56T= (n.2005+56T=) c.1807+56T= (n.1807+56T=) c.*305+56T= (n.*305+56T=) c.*401+56T= (n.*401+56T=) c.*545+56T= (n.*545+56T=) c.*771+56T= (n.*771+56T=) c.*977+56T= (n.*977+56T=) n.2077+56T= n.2067+56T= | |
2 | g.47475331_47475332insTATTTT | CA1030270309 | MSH2 | c.2005+61_2005+62insTATTTT (n.2005+61_2005+62insTATTTT) c.1807+61_1807+62insTATTTT (n.1807+61_1807+62insTATTTT) c.*305+61_*305+62insTATTTT (n.*305+61_*305+62insTATTTT) c.*401+61_*401+62insTATTTT (n.*401+61_*401+62insTATTTT) c.*545+61_*545+62insTATTTT (n.*545+61_*545+62insTATTTT) c.*771+61_*771+62insTATTTT (n.*771+61_*771+62insTATTTT) c.*977+61_*977+62insTATTTT (n.*977+61_*977+62insTATTTT) n.2077+61_2077+62insTATTTT n.2067+61_2067+62insTATTTT | gnomAD v3 gnomAD v4 |
2 | g.47475330_47475332del | CA2699276614 | MSH2 | c.2005+60_2005+62del (n.2005+60_2005+62del) c.1807+60_1807+62del (n.1807+60_1807+62del) c.*305+60_*305+62del (n.*305+60_*305+62del) c.*401+60_*401+62del (n.*401+60_*401+62del) c.*545+60_*545+62del (n.*545+60_*545+62del) c.*771+60_*771+62del (n.*771+60_*771+62del) c.*977+60_*977+62del (n.*977+60_*977+62del) n.2077+60_2077+62del n.2067+60_2067+62del | dbSNP |
2 | g.47475331T>A | CA46701091 | MSH2 | c.2005+61T>A (n.2005+61T>A) c.1807+61T>A (n.1807+61T>A) c.*305+61T>A (n.*305+61T>A) c.*401+61T>A (n.*401+61T>A) c.*545+61T>A (n.*545+61T>A) c.*771+61T>A (n.*771+61T>A) c.*977+61T>A (n.*977+61T>A) n.2077+61T>A n.2067+61T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475331T>C | CA2658948128 | MSH2 | c.2005+61T>C (n.2005+61T>C) c.1807+61T>C (n.1807+61T>C) c.*305+61T>C (n.*305+61T>C) c.*401+61T>C (n.*401+61T>C) c.*545+61T>C (n.*545+61T>C) c.*771+61T>C (n.*771+61T>C) c.*977+61T>C (n.*977+61T>C) n.2077+61T>C n.2067+61T>C | gnomAD v4 |
2 | g.47475331T>G | CA2576961026 | MSH2 | c.2005+61T>G (n.2005+61T>G) c.1807+61T>G (n.1807+61T>G) c.*305+61T>G (n.*305+61T>G) c.*401+61T>G (n.*401+61T>G) c.*545+61T>G (n.*545+61T>G) c.*771+61T>G (n.*771+61T>G) c.*977+61T>G (n.*977+61T>G) n.2077+61T>G n.2067+61T>G | |
2 | g.47475331T= | CA2495872675 | MSH2 | c.2005+61T= (n.2005+61T=) c.1807+61T= (n.1807+61T=) c.*305+61T= (n.*305+61T=) c.*401+61T= (n.*401+61T=) c.*545+61T= (n.*545+61T=) c.*771+61T= (n.*771+61T=) c.*977+61T= (n.*977+61T=) n.2077+61T= n.2067+61T= | |
2 | g.47475331_47475332del | CA2699276618 | MSH2 | c.2005+61_2005+62del (n.2005+61_2005+62del) c.1807+61_1807+62del (n.1807+61_1807+62del) c.*305+61_*305+62del (n.*305+61_*305+62del) c.*401+61_*401+62del (n.*401+61_*401+62del) c.*545+61_*545+62del (n.*545+61_*545+62del) c.*771+61_*771+62del (n.*771+61_*771+62del) c.*977+61_*977+62del (n.*977+61_*977+62del) n.2077+61_2077+62del n.2067+61_2067+62del | dbSNP |
2 | g.47475331_47475332delinsTA | CA2495872676 | MSH2 | c.2005+61_2005+62delinsTA (n.2005+61_2005+62delinsTA) c.1807+61_1807+62delinsTA (n.1807+61_1807+62delinsTA) c.*305+61_*305+62delinsTA (n.*305+61_*305+62delinsTA) c.*401+61_*401+62delinsTA (n.*401+61_*401+62delinsTA) c.*545+61_*545+62delinsTA (n.*545+61_*545+62delinsTA) c.*771+61_*771+62delinsTA (n.*771+61_*771+62delinsTA) c.*977+61_*977+62delinsTA (n.*977+61_*977+62delinsTA) n.2077+61_2077+62delinsTA n.2067+61_2067+62delinsTA | |
2 | g.47475331_47475333delinsTAA | CA2495872677 | MSH2 | c.2005+61_2005+63delinsTAA (n.2005+61_2005+63delinsTAA) c.1807+61_1807+63delinsTAA (n.1807+61_1807+63delinsTAA) c.*305+61_*305+63delinsTAA (n.*305+61_*305+63delinsTAA) c.*401+61_*401+63delinsTAA (n.*401+61_*401+63delinsTAA) c.*545+61_*545+63delinsTAA (n.*545+61_*545+63delinsTAA) c.*771+61_*771+63delinsTAA (n.*771+61_*771+63delinsTAA) c.*977+61_*977+63delinsTAA (n.*977+61_*977+63delinsTAA) n.2077+61_2077+63delinsTAA n.2067+61_2067+63delinsTAA | |
2 | g.47475331_47475332insTA | CA2658948129 | MSH2 | c.2005+61_2005+62insTA (n.2005+61_2005+62insTA) c.1807+61_1807+62insTA (n.1807+61_1807+62insTA) c.*305+61_*305+62insTA (n.*305+61_*305+62insTA) c.*401+61_*401+62insTA (n.*401+61_*401+62insTA) c.*545+61_*545+62insTA (n.*545+61_*545+62insTA) c.*771+61_*771+62insTA (n.*771+61_*771+62insTA) c.*977+61_*977+62insTA (n.*977+61_*977+62insTA) n.2077+61_2077+62insTA n.2067+61_2067+62insTA | gnomAD v4 |
2 | g.47475331_47475332insTTA | CA2658948130 | MSH2 | c.2005+61_2005+62insTTA (n.2005+61_2005+62insTTA) c.1807+61_1807+62insTTA (n.1807+61_1807+62insTTA) c.*305+61_*305+62insTTA (n.*305+61_*305+62insTTA) c.*401+61_*401+62insTTA (n.*401+61_*401+62insTTA) c.*545+61_*545+62insTTA (n.*545+61_*545+62insTTA) c.*771+61_*771+62insTTA (n.*771+61_*771+62insTTA) c.*977+61_*977+62insTTA (n.*977+61_*977+62insTTA) n.2077+61_2077+62insTTA n.2067+61_2067+62insTTA | gnomAD v4 |
2 | g.47475331_47475332insTTTA | CA2658948131 | MSH2 | c.2005+61_2005+62insTTTA (n.2005+61_2005+62insTTTA) c.1807+61_1807+62insTTTA (n.1807+61_1807+62insTTTA) c.*305+61_*305+62insTTTA (n.*305+61_*305+62insTTTA) c.*401+61_*401+62insTTTA (n.*401+61_*401+62insTTTA) c.*545+61_*545+62insTTTA (n.*545+61_*545+62insTTTA) c.*771+61_*771+62insTTTA (n.*771+61_*771+62insTTTA) c.*977+61_*977+62insTTTA (n.*977+61_*977+62insTTTA) n.2077+61_2077+62insTTTA n.2067+61_2067+62insTTTA | gnomAD v4 |
2 | g.47475332A= | CA2495872678 | MSH2 | c.2005+62A= (n.2005+62A=) c.1807+62A= (n.1807+62A=) c.*305+62A= (n.*305+62A=) c.*401+62A= (n.*401+62A=) c.*545+62A= (n.*545+62A=) c.*771+62A= (n.*771+62A=) c.*977+62A= (n.*977+62A=) n.2077+62A= n.2067+62A= | |
2 | g.47475332A>C | CA2576961027 | MSH2 | c.2005+62A>C (n.2005+62A>C) c.1807+62A>C (n.1807+62A>C) c.*305+62A>C (n.*305+62A>C) c.*401+62A>C (n.*401+62A>C) c.*545+62A>C (n.*545+62A>C) c.*771+62A>C (n.*771+62A>C) c.*977+62A>C (n.*977+62A>C) n.2077+62A>C n.2067+62A>C | gnomAD v4 |
2 | g.47475332A>G | CA532705051 | MSH2 | c.2005+62A>G (n.2005+62A>G) c.1807+62A>G (n.1807+62A>G) c.*305+62A>G (n.*305+62A>G) c.*401+62A>G (n.*401+62A>G) c.*545+62A>G (n.*545+62A>G) c.*771+62A>G (n.*771+62A>G) c.*977+62A>G (n.*977+62A>G) n.2077+62A>G n.2067+62A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475332A>T | CA532705052 | MSH2 | c.2005+62A>T (n.2005+62A>T) c.1807+62A>T (n.1807+62A>T) c.*305+62A>T (n.*305+62A>T) c.*401+62A>T (n.*401+62A>T) c.*545+62A>T (n.*545+62A>T) c.*771+62A>T (n.*771+62A>T) c.*977+62A>T (n.*977+62A>T) n.2077+62A>T n.2067+62A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475332_47475333del | CA532705050 | MSH2 | c.2005+62_2005+63del (n.2005+62_2005+63del) c.1807+62_1807+63del (n.1807+62_1807+63del) c.*305+62_*305+63del (n.*305+62_*305+63del) c.*401+62_*401+63del (n.*401+62_*401+63del) c.*545+62_*545+63del (n.*545+62_*545+63del) c.*771+62_*771+63del (n.*771+62_*771+63del) c.*977+62_*977+63del (n.*977+62_*977+63del) n.2077+62_2077+63del n.2067+62_2067+63del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475333dup | CA769432036 | MSH2 | c.2005+63dup (n.2005+63dup) c.1807+63dup (n.1807+63dup) c.*305+63dup (n.*305+63dup) c.*401+63dup (n.*401+63dup) c.*545+63dup (n.*545+63dup) c.*771+63dup (n.*771+63dup) c.*977+63dup (n.*977+63dup) n.2077+63dup n.2067+63dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475333del | CA1030270315 | MSH2 | c.2005+63del (n.2005+63del) c.1807+63del (n.1807+63del) c.*305+63del (n.*305+63del) c.*401+63del (n.*401+63del) c.*545+63del (n.*545+63del) c.*771+63del (n.*771+63del) c.*977+63del (n.*977+63del) n.2077+63del n.2067+63del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475332_47475335del | CA1030270311 | MSH2 | c.2005+62_2005+65del (n.2005+62_2005+65del) c.1807+62_1807+65del (n.1807+62_1807+65del) c.*305+62_*305+65del (n.*305+62_*305+65del) c.*401+62_*401+65del (n.*401+62_*401+65del) c.*545+62_*545+65del (n.*545+62_*545+65del) c.*771+62_*771+65del (n.*771+62_*771+65del) c.*977+62_*977+65del (n.*977+62_*977+65del) n.2077+62_2077+65del n.2067+62_2067+65del | gnomAD v3 gnomAD v4 |
2 | g.47475333A>C | CA1030270326 | MSH2 | c.2005+63A>C (n.2005+63A>C) c.1807+63A>C (n.1807+63A>C) c.*305+63A>C (n.*305+63A>C) c.*401+63A>C (n.*401+63A>C) c.*545+63A>C (n.*545+63A>C) c.*771+63A>C (n.*771+63A>C) c.*977+63A>C (n.*977+63A>C) n.2077+63A>C n.2067+63A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475333A>G | CA2576961028 | MSH2 | c.2005+63A>G (n.2005+63A>G) c.1807+63A>G (n.1807+63A>G) c.*305+63A>G (n.*305+63A>G) c.*401+63A>G (n.*401+63A>G) c.*545+63A>G (n.*545+63A>G) c.*771+63A>G (n.*771+63A>G) c.*977+63A>G (n.*977+63A>G) n.2077+63A>G n.2067+63A>G | gnomAD v4 |
2 | g.47475333A>T | CA532705053 | MSH2 | c.2005+63A>T (n.2005+63A>T) c.1807+63A>T (n.1807+63A>T) c.*305+63A>T (n.*305+63A>T) c.*401+63A>T (n.*401+63A>T) c.*545+63A>T (n.*545+63A>T) c.*771+63A>T (n.*771+63A>T) c.*977+63A>T (n.*977+63A>T) n.2077+63A>T n.2067+63A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475334T>A | CA2658948132 | MSH2 | c.2005+64T>A (n.2005+64T>A) c.1807+64T>A (n.1807+64T>A) c.*305+64T>A (n.*305+64T>A) c.*401+64T>A (n.*401+64T>A) c.*545+64T>A (n.*545+64T>A) c.*771+64T>A (n.*771+64T>A) c.*977+64T>A (n.*977+64T>A) n.2077+64T>A n.2067+64T>A | dbSNP gnomAD v4 |
2 | g.47475334T>C | CA2658948133 | MSH2 | c.2005+64T>C (n.2005+64T>C) c.1807+64T>C (n.1807+64T>C) c.*305+64T>C (n.*305+64T>C) c.*401+64T>C (n.*401+64T>C) c.*545+64T>C (n.*545+64T>C) c.*771+64T>C (n.*771+64T>C) c.*977+64T>C (n.*977+64T>C) n.2077+64T>C n.2067+64T>C | dbSNP gnomAD v4 |
2 | g.47475334_47475335insTTT | CA532705054 | MSH2 | c.2005+64_2005+65insTTT (n.2005+64_2005+65insTTT) c.1807+64_1807+65insTTT (n.1807+64_1807+65insTTT) c.*305+64_*305+65insTTT (n.*305+64_*305+65insTTT) c.*401+64_*401+65insTTT (n.*401+64_*401+65insTTT) c.*545+64_*545+65insTTT (n.*545+64_*545+65insTTT) c.*771+64_*771+65insTTT (n.*771+64_*771+65insTTT) c.*977+64_*977+65insTTT (n.*977+64_*977+65insTTT) n.2077+64_2077+65insTTT n.2067+64_2067+65insTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475334_47475335insTTTT | CA532705055 | MSH2 | c.2005+64_2005+65insTTTT (n.2005+64_2005+65insTTTT) c.1807+64_1807+65insTTTT (n.1807+64_1807+65insTTTT) c.*305+64_*305+65insTTTT (n.*305+64_*305+65insTTTT) c.*401+64_*401+65insTTTT (n.*401+64_*401+65insTTTT) c.*545+64_*545+65insTTTT (n.*545+64_*545+65insTTTT) c.*771+64_*771+65insTTTT (n.*771+64_*771+65insTTTT) c.*977+64_*977+65insTTTT (n.*977+64_*977+65insTTTT) n.2077+64_2077+65insTTTT n.2067+64_2067+65insTTTT | gnomAD v2 |
2 | g.47475334_47475335insTTTTT | CA532705056 | MSH2 | c.2005+64_2005+65insTTTTT (n.2005+64_2005+65insTTTTT) c.1807+64_1807+65insTTTTT (n.1807+64_1807+65insTTTTT) c.*305+64_*305+65insTTTTT (n.*305+64_*305+65insTTTTT) c.*401+64_*401+65insTTTTT (n.*401+64_*401+65insTTTTT) c.*545+64_*545+65insTTTTT (n.*545+64_*545+65insTTTTT) c.*771+64_*771+65insTTTTT (n.*771+64_*771+65insTTTTT) c.*977+64_*977+65insTTTTT (n.*977+64_*977+65insTTTTT) n.2077+64_2077+65insTTTTT n.2067+64_2067+65insTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475334_47475335insTTTTTTT | CA532705057 | MSH2 | c.2005+64_2005+65insTTTTTTT (n.2005+64_2005+65insTTTTTTT) c.1807+64_1807+65insTTTTTTT (n.1807+64_1807+65insTTTTTTT) c.*305+64_*305+65insTTTTTTT (n.*305+64_*305+65insTTTTTTT) c.*401+64_*401+65insTTTTTTT (n.*401+64_*401+65insTTTTTTT) c.*545+64_*545+65insTTTTTTT (n.*545+64_*545+65insTTTTTTT) c.*771+64_*771+65insTTTTTTT (n.*771+64_*771+65insTTTTTTT) c.*977+64_*977+65insTTTTTTT (n.*977+64_*977+65insTTTTTTT) n.2077+64_2077+65insTTTTTTT n.2067+64_2067+65insTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475335C>A | CA1030270337 | MSH2 | c.2005+65C>A (n.2005+65C>A) c.1807+65C>A (n.1807+65C>A) c.*305+65C>A (n.*305+65C>A) c.*401+65C>A (n.*401+65C>A) c.*545+65C>A (n.*545+65C>A) c.*771+65C>A (n.*771+65C>A) c.*977+65C>A (n.*977+65C>A) n.2077+65C>A n.2067+65C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475335C= | CA2495872679 | MSH2 | c.2005+65C= (n.2005+65C=) c.1807+65C= (n.1807+65C=) c.*305+65C= (n.*305+65C=) c.*401+65C= (n.*401+65C=) c.*545+65C= (n.*545+65C=) c.*771+65C= (n.*771+65C=) c.*977+65C= (n.*977+65C=) n.2077+65C= n.2067+65C= | |
2 | g.47475335C>G | CA2597416860 | MSH2 | c.2005+65C>G (n.2005+65C>G) c.1807+65C>G (n.1807+65C>G) c.*305+65C>G (n.*305+65C>G) c.*401+65C>G (n.*401+65C>G) c.*545+65C>G (n.*545+65C>G) c.*771+65C>G (n.*771+65C>G) c.*977+65C>G (n.*977+65C>G) n.2077+65C>G n.2067+65C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475335C>T | CA46701093 | MSH2 | c.2005+65C>T (n.2005+65C>T) c.1807+65C>T (n.1807+65C>T) c.*305+65C>T (n.*305+65C>T) c.*401+65C>T (n.*401+65C>T) c.*545+65C>T (n.*545+65C>T) c.*771+65C>T (n.*771+65C>T) c.*977+65C>T (n.*977+65C>T) n.2077+65C>T n.2067+65C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475336T>C | CA2570883579 | MSH2 | c.2005+66T>C (n.2005+66T>C) c.1807+66T>C (n.1807+66T>C) c.*305+66T>C (n.*305+66T>C) c.*401+66T>C (n.*401+66T>C) c.*545+66T>C (n.*545+66T>C) c.*771+66T>C (n.*771+66T>C) c.*977+66T>C (n.*977+66T>C) n.2077+66T>C n.2067+66T>C | dbSNP gnomAD v4 |
2 | g.47475336T>G | CA769432066 | MSH2 | c.2005+66T>G (n.2005+66T>G) c.1807+66T>G (n.1807+66T>G) c.*305+66T>G (n.*305+66T>G) c.*401+66T>G (n.*401+66T>G) c.*545+66T>G (n.*545+66T>G) c.*771+66T>G (n.*771+66T>G) c.*977+66T>G (n.*977+66T>G) n.2077+66T>G n.2067+66T>G | dbSNP |
2 | g.47475336T= | CA2495872680 | MSH2 | c.2005+66T= (n.2005+66T=) c.1807+66T= (n.1807+66T=) c.*305+66T= (n.*305+66T=) c.*401+66T= (n.*401+66T=) c.*545+66T= (n.*545+66T=) c.*771+66T= (n.*771+66T=) c.*977+66T= (n.*977+66T=) n.2077+66T= n.2067+66T= | |
2 | g.47475337T>A | CA2658948134 | MSH2 | c.2005+67T>A (n.2005+67T>A) c.1807+67T>A (n.1807+67T>A) c.*305+67T>A (n.*305+67T>A) c.*401+67T>A (n.*401+67T>A) c.*545+67T>A (n.*545+67T>A) c.*771+67T>A (n.*771+67T>A) c.*977+67T>A (n.*977+67T>A) n.2077+67T>A n.2067+67T>A | gnomAD v4 |
2 | g.47475337T>C | CA769432069 | MSH2 | c.2005+67T>C (n.2005+67T>C) c.1807+67T>C (n.1807+67T>C) c.*305+67T>C (n.*305+67T>C) c.*401+67T>C (n.*401+67T>C) c.*545+67T>C (n.*545+67T>C) c.*771+67T>C (n.*771+67T>C) c.*977+67T>C (n.*977+67T>C) n.2077+67T>C n.2067+67T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475337T= | CA2495872681 | MSH2 | c.2005+67T= (n.2005+67T=) c.1807+67T= (n.1807+67T=) c.*305+67T= (n.*305+67T=) c.*401+67T= (n.*401+67T=) c.*545+67T= (n.*545+67T=) c.*771+67T= (n.*771+67T=) c.*977+67T= (n.*977+67T=) n.2077+67T= n.2067+67T= | |
2 | g.47475338G>A | CA1030270342 | MSH2 | c.2005+68G>A (n.2005+68G>A) c.1807+68G>A (n.1807+68G>A) c.*305+68G>A (n.*305+68G>A) c.*401+68G>A (n.*401+68G>A) c.*545+68G>A (n.*545+68G>A) c.*771+68G>A (n.*771+68G>A) c.*977+68G>A (n.*977+68G>A) n.2077+68G>A n.2067+68G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475338G>C | CA2699120655 | MSH2 | c.2005+68G>C (n.2005+68G>C) c.1807+68G>C (n.1807+68G>C) c.*305+68G>C (n.*305+68G>C) c.*401+68G>C (n.*401+68G>C) c.*545+68G>C (n.*545+68G>C) c.*771+68G>C (n.*771+68G>C) c.*977+68G>C (n.*977+68G>C) n.2077+68G>C n.2067+68G>C | dbSNP |
2 | g.47475338G= | CA2495872682 | MSH2 | c.2005+68G= (n.2005+68G=) c.1807+68G= (n.1807+68G=) c.*305+68G= (n.*305+68G=) c.*401+68G= (n.*401+68G=) c.*545+68G= (n.*545+68G=) c.*771+68G= (n.*771+68G=) c.*977+68G= (n.*977+68G=) n.2077+68G= n.2067+68G= | |
2 | g.47475338G>T | CA532705058 | MSH2 | c.2005+68G>T (n.2005+68G>T) c.1807+68G>T (n.1807+68G>T) c.*305+68G>T (n.*305+68G>T) c.*401+68G>T (n.*401+68G>T) c.*545+68G>T (n.*545+68G>T) c.*771+68G>T (n.*771+68G>T) c.*977+68G>T (n.*977+68G>T) n.2077+68G>T n.2067+68G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47475339dup | CA1030270347 | MSH2 | c.2005+69dup (n.2005+69dup) c.1807+69dup (n.1807+69dup) c.*305+69dup (n.*305+69dup) c.*401+69dup (n.*401+69dup) c.*545+69dup (n.*545+69dup) c.*771+69dup (n.*771+69dup) c.*977+69dup (n.*977+69dup) n.2077+69dup n.2067+69dup | gnomAD v3 gnomAD v4 |
2 | g.47475339del | CA2699276665 | MSH2 | c.2005+69del (n.2005+69del) c.1807+69del (n.1807+69del) c.*305+69del (n.*305+69del) c.*401+69del (n.*401+69del) c.*545+69del (n.*545+69del) c.*771+69del (n.*771+69del) c.*977+69del (n.*977+69del) n.2077+69del n.2067+69del | dbSNP |
2 | g.47475338_47475341del | CA1030270346 | MSH2 | c.2005+68_2005+71del (n.2005+68_2005+71del) c.1807+68_1807+71del (n.1807+68_1807+71del) c.*305+68_*305+71del (n.*305+68_*305+71del) c.*401+68_*401+71del (n.*401+68_*401+71del) c.*545+68_*545+71del (n.*545+68_*545+71del) c.*771+68_*771+71del (n.*771+68_*771+71del) c.*977+68_*977+71del (n.*977+68_*977+71del) n.2077+68_2077+71del n.2067+68_2067+71del | gnomAD v3 gnomAD v4 |
2 | g.47475339_47475341del | CA2597416861 | MSH2 | c.2005+69_2005+71del (n.2005+69_2005+71del) c.1807+69_1807+71del (n.1807+69_1807+71del) c.*305+69_*305+71del (n.*305+69_*305+71del) c.*401+69_*401+71del (n.*401+69_*401+71del) c.*545+69_*545+71del (n.*545+69_*545+71del) c.*771+69_*771+71del (n.*771+69_*771+71del) c.*977+69_*977+71del (n.*977+69_*977+71del) n.2077+69_2077+71del n.2067+69_2067+71del | gnomAD v3 gnomAD v4 |
2 | g.47475338_47475347del | CA1030270350 | MSH2 | c.2005+68_2005+77del (n.2005+68_2005+77del) c.1807+68_1807+77del (n.1807+68_1807+77del) c.*305+68_*305+77del (n.*305+68_*305+77del) c.*401+68_*401+77del (n.*401+68_*401+77del) c.*545+68_*545+77del (n.*545+68_*545+77del) c.*771+68_*771+77del (n.*771+68_*771+77del) c.*977+68_*977+77del (n.*977+68_*977+77del) n.2077+68_2077+77del n.2067+68_2067+77del | gnomAD v3 gnomAD v4 |
2 | g.47475338_47475351del | CA1030270344 | MSH2 | c.2005+68_2005+81del (n.2005+68_2005+81del) c.1807+68_1807+81del (n.1807+68_1807+81del) c.*305+68_*305+81del (n.*305+68_*305+81del) c.*401+68_*401+81del (n.*401+68_*401+81del) c.*545+68_*545+81del (n.*545+68_*545+81del) c.*771+68_*771+81del (n.*771+68_*771+81del) c.*977+68_*977+81del (n.*977+68_*977+81del) n.2077+68_2077+81del n.2067+68_2067+81del | |
2 | g.47475339G>A | CA2658948135 | MSH2 | c.2005+69G>A (n.2005+69G>A) c.1807+69G>A (n.1807+69G>A) c.*305+69G>A (n.*305+69G>A) c.*401+69G>A (n.*401+69G>A) c.*545+69G>A (n.*545+69G>A) c.*771+69G>A (n.*771+69G>A) c.*977+69G>A (n.*977+69G>A) n.2077+69G>A n.2067+69G>A | dbSNP gnomAD v4 |
2 | g.47475339G>C | CA46701094 | MSH2 | c.2005+69G>C (n.2005+69G>C) c.1807+69G>C (n.1807+69G>C) c.*305+69G>C (n.*305+69G>C) c.*401+69G>C (n.*401+69G>C) c.*545+69G>C (n.*545+69G>C) c.*771+69G>C (n.*771+69G>C) c.*977+69G>C (n.*977+69G>C) n.2077+69G>C n.2067+69G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475339G= | CA2495872683 | MSH2 | c.2005+69G= (n.2005+69G=) c.1807+69G= (n.1807+69G=) c.*305+69G= (n.*305+69G=) c.*401+69G= (n.*401+69G=) c.*545+69G= (n.*545+69G=) c.*771+69G= (n.*771+69G=) c.*977+69G= (n.*977+69G=) n.2077+69G= n.2067+69G= | |
2 | g.47475339G>T | CA1030270358 | MSH2 | c.2005+69G>T (n.2005+69G>T) c.1807+69G>T (n.1807+69G>T) c.*305+69G>T (n.*305+69G>T) c.*401+69G>T (n.*401+69G>T) c.*545+69G>T (n.*545+69G>T) c.*771+69G>T (n.*771+69G>T) c.*977+69G>T (n.*977+69G>T) n.2077+69G>T n.2067+69G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475340A= | CA2495872684 | MSH2 | c.2005+70A= (n.2005+70A=) c.1807+70A= (n.1807+70A=) c.*305+70A= (n.*305+70A=) c.*401+70A= (n.*401+70A=) c.*545+70A= (n.*545+70A=) c.*771+70A= (n.*771+70A=) c.*977+70A= (n.*977+70A=) n.2077+70A= n.2067+70A= | |
2 | g.47475340A>G | CA1030270363 | MSH2 | c.2005+70A>G (n.2005+70A>G) c.1807+70A>G (n.1807+70A>G) c.*305+70A>G (n.*305+70A>G) c.*401+70A>G (n.*401+70A>G) c.*545+70A>G (n.*545+70A>G) c.*771+70A>G (n.*771+70A>G) c.*977+70A>G (n.*977+70A>G) n.2077+70A>G n.2067+70A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475340A>T | CA1030270364 | MSH2 | c.2005+70A>T (n.2005+70A>T) c.1807+70A>T (n.1807+70A>T) c.*305+70A>T (n.*305+70A>T) c.*401+70A>T (n.*401+70A>T) c.*545+70A>T (n.*545+70A>T) c.*771+70A>T (n.*771+70A>T) c.*977+70A>T (n.*977+70A>T) n.2077+70A>T n.2067+70A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.47475340_47475347del | CA1030270362 | MSH2 | c.2005+70_2005+77del (n.2005+70_2005+77del) c.1807+70_1807+77del (n.1807+70_1807+77del) c.*305+70_*305+77del (n.*305+70_*305+77del) c.*401+70_*401+77del (n.*401+70_*401+77del) c.*545+70_*545+77del (n.*545+70_*545+77del) c.*771+70_*771+77del (n.*771+70_*771+77del) c.*977+70_*977+77del (n.*977+70_*977+77del) n.2077+70_2077+77del n.2067+70_2067+77del | gnomAD v3 gnomAD v4 |