Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.67721876A= | CA2435134340 | AR | c.*710A= (n.*710A=) c.2362A= (p.Met788=) c.989A= (n.989A=) c.2174-1810A= (n.2174-1810A=) c.766A= (p.Met256=) c.1792A= (p.Met598=) | |
X | g.67721876A>C | CA413426590 | AR | c.*710A>C (n.*710A>C) c.2362A>C (p.Met788Leu) c.989A>C (n.989A>C) c.2174-1810A>C (n.2174-1810A>C) c.766A>C (p.Met256Leu) c.1792A>C (p.Met598Leu) | |
X | g.67721876A>G | CA120706 | AR | c.*710A>G (n.*710A>G) c.2362A>G (p.Met788Val) c.989A>G (n.989A>G) c.2174-1810A>G (n.2174-1810A>G) c.766A>G (p.Met256Val) c.1792A>G (p.Met598Val) | ClinVar dbSNP |
X | g.67721876A>T | CA413426595 | AR | c.*710A>T (n.*710A>T) c.2362A>T (p.Met788Leu) c.989A>T (n.989A>T) c.2174-1810A>T (n.2174-1810A>T) c.766A>T (p.Met256Leu) c.1792A>T (p.Met598Leu) | dbSNP |
X | g.67721877T>A | CA413426601 | AR | c.*711T>A (n.*711T>A) c.2363T>A (p.Met788Lys) c.990T>A (n.990T>A) c.2174-1809T>A (n.2174-1809T>A) c.767T>A (p.Met256Lys) c.1793T>A (p.Met598Lys) | dbSNP |
X | g.67721877T>C | CA413426600 | AR | c.*711T>C (n.*711T>C) c.2363T>C (p.Met788Thr) c.990T>C (n.990T>C) c.2174-1809T>C (n.2174-1809T>C) c.767T>C (p.Met256Thr) c.1793T>C (p.Met598Thr) | |
X | g.67721877T>G | CA413426598 | AR | c.*711T>G (n.*711T>G) c.2363T>G (p.Met788Arg) c.990T>G (n.990T>G) c.2174-1809T>G (n.2174-1809T>G) c.767T>G (p.Met256Arg) c.1793T>G (p.Met598Arg) | ClinVar dbSNP |
X | g.67721878G>A | CA413426603 | AR | c.*712G>A (n.*712G>A) c.2364G>A (p.Met788Ile) c.991G>A (n.991G>A) c.2174-1808G>A (n.2174-1808G>A) c.768G>A (p.Met256Ile) c.1794G>A (p.Met598Ile) | dbSNP |
X | g.67721878G>C | CA413426605 | AR | c.*712G>C (n.*712G>C) c.2364G>C (p.Met788Ile) c.991G>C (n.991G>C) c.2174-1808G>C (n.2174-1808G>C) c.768G>C (p.Met256Ile) c.1794G>C (p.Met598Ile) | dbSNP |
X | g.67721878G>T | CA413426608 | AR | c.*712G>T (n.*712G>T) c.2364G>T (p.Met788Ile) c.991G>T (n.991G>T) c.2174-1808G>T (n.2174-1808G>T) c.768G>T (p.Met256Ile) c.1794G>T (p.Met598Ile) | |
X | g.67721879_67721881dup | CA2695234354 | AR | c.*713_*715dup (n.*713_*715dup) c.2365_2367dup (p.Arg789_His790insArg) c.992_994dup (n.992_994dup) c.2174-1807_2174-1805dup (n.2174-1807_2174-1805dup) c.769_771dup (p.Arg257_His258insArg) c.1795_1797dup (p.Arg599_His600insArg) | |
X | g.67721879A>C | CA516970733 | AR | c.*713A>C (n.*713A>C) c.2365A>C (p.Arg789=) c.992A>C (n.992A>C) c.2174-1807A>C (n.2174-1807A>C) c.769A>C (p.Arg257=) c.1795A>C (p.Arg599=) | |
X | g.67721879A>G | CA413426611 | AR | c.*713A>G (n.*713A>G) c.2365A>G (p.Arg789Gly) c.992A>G (n.992A>G) c.2174-1807A>G (n.2174-1807A>G) c.769A>G (p.Arg257Gly) c.1795A>G (p.Arg599Gly) | dbSNP |
X | g.67721879A>T | CA413426614 | AR | c.*713A>T (n.*713A>T) c.2365A>T (p.Arg789Trp) c.992A>T (n.992A>T) c.2174-1807A>T (n.2174-1807A>T) c.769A>T (p.Arg257Trp) c.1795A>T (p.Arg599Trp) | dbSNP |
X | g.67721880G>A | CA413426617 | AR | c.*714G>A (n.*714G>A) c.2366G>A (p.Arg789Lys) c.993G>A (n.993G>A) c.2174-1806G>A (n.2174-1806G>A) c.770G>A (p.Arg257Lys) c.1796G>A (p.Arg599Lys) | |
X | g.67721880G>C | CA413426618 | AR | c.*714G>C (n.*714G>C) c.2366G>C (p.Arg789Thr) c.993G>C (n.993G>C) c.2174-1806G>C (n.2174-1806G>C) c.770G>C (p.Arg257Thr) c.1796G>C (p.Arg599Thr) | |
X | g.67721880G>T | CA413426620 | AR | c.*714G>T (n.*714G>T) c.2366G>T (p.Arg789Met) c.993G>T (n.993G>T) c.2174-1806G>T (n.2174-1806G>T) c.770G>T (p.Arg257Met) c.1796G>T (p.Arg599Met) | |
X | g.67721881G>A | CA516970744 | AR | c.*715G>A (n.*715G>A) c.2367G>A (p.Arg789=) c.994G>A (n.994G>A) c.2174-1805G>A (n.2174-1805G>A) c.771G>A (p.Arg257=) c.1797G>A (p.Arg599=) | dbSNP |
X | g.67721881G>C | CA413426622 | AR | c.*715G>C (n.*715G>C) c.2367G>C (p.Arg789Ser) c.994G>C (n.994G>C) c.2174-1805G>C (n.2174-1805G>C) c.771G>C (p.Arg257Ser) c.1797G>C (p.Arg599Ser) | dbSNP |
X | g.67721881G= | CA2435134341 | AR | c.*715G= (n.*715G=) c.2367G= (p.Arg789=) c.994G= (n.994G=) c.2174-1805G= (n.2174-1805G=) c.771G= (p.Arg257=) c.1797G= (p.Arg599=) | |
X | g.67721881G>T | CA413426624 | AR | c.*715G>T (n.*715G>T) c.2367G>T (p.Arg789Ser) c.994G>T (n.994G>T) c.2174-1805G>T (n.2174-1805G>T) c.771G>T (p.Arg257Ser) c.1797G>T (p.Arg599Ser) | dbSNP gnomAD v2 |
X | g.67721882C>A | CA413426627 | AR | c.*716C>A (n.*716C>A) c.2368C>A (p.His790Asn) c.995C>A (n.995C>A) c.2174-1804C>A (n.2174-1804C>A) c.772C>A (p.His258Asn) c.1798C>A (p.His600Asn) | |
X | g.67721882C>G | CA413426629 | AR | c.*716C>G (n.*716C>G) c.2368C>G (p.His790Asp) c.995C>G (n.995C>G) c.2174-1804C>G (n.2174-1804C>G) c.772C>G (p.His258Asp) c.1798C>G (p.His600Asp) | dbSNP |
X | g.67721882C>T | CA413426631 | AR | c.*716C>T (n.*716C>T) c.2368C>T (p.His790Tyr) c.995C>T (n.995C>T) c.2174-1804C>T (n.2174-1804C>T) c.772C>T (p.His258Tyr) c.1798C>T (p.His600Tyr) | |
X | g.67721883A>C | CA413426639 | AR | c.*717A>C (n.*717A>C) c.2369A>C (p.His790Pro) c.996A>C (n.996A>C) c.2174-1803A>C (n.2174-1803A>C) c.773A>C (p.His258Pro) c.1799A>C (p.His600Pro) | dbSNP |
X | g.67721883A>G | CA413426637 | AR | c.*717A>G (n.*717A>G) c.2369A>G (p.His790Arg) c.996A>G (n.996A>G) c.2174-1803A>G (n.2174-1803A>G) c.773A>G (p.His258Arg) c.1799A>G (p.His600Arg) | |
X | g.67721883A>T | CA413426635 | AR | c.*717A>T (n.*717A>T) c.2369A>T (p.His790Leu) c.996A>T (n.996A>T) c.2174-1803A>T (n.2174-1803A>T) c.773A>T (p.His258Leu) c.1799A>T (p.His600Leu) | dbSNP |
X | g.67721883_67721884delinsTGG | CA2695234355 | AR | c.*717_*718delinsTGG (n.*717_*718delinsTGG) c.2369_2370delinsTGG (p.His790LeufsTer?) c.996_997delinsTGG (n.996_997delinsTGG) c.2174-1803_2174-1802delinsTGG (n.2174-1803_2174-1802delinsTGG) c.773_774delinsTGG (p.His258LeufsTer?) c.1799_1800delinsTGG (p.His600LeufsTer28) | |
X | g.67721884C>A | CA413426640 | AR | c.*718C>A (n.*718C>A) c.2370C>A (p.His790Gln) c.997C>A (n.997C>A) c.2174-1802C>A (n.2174-1802C>A) c.774C>A (p.His258Gln) c.1800C>A (p.His600Gln) | |
X | g.67721884C= | CA2435134342 | AR | c.*718C= (n.*718C=) c.2370C= (p.His790=) c.997C= (n.997C=) c.2174-1802C= (n.2174-1802C=) c.774C= (p.His258=) c.1800C= (p.His600=) | |
X | g.67721884C>G | CA413426642 | AR | c.*718C>G (n.*718C>G) c.2370C>G (p.His790Gln) c.997C>G (n.997C>G) c.2174-1802C>G (n.2174-1802C>G) c.774C>G (p.His258Gln) c.1800C>G (p.His600Gln) | |
X | g.67721884C>T | CA516970757 | AR | c.*718C>T (n.*718C>T) c.2370C>T (p.His790=) c.997C>T (n.997C>T) c.2174-1802C>T (n.2174-1802C>T) c.774C>T (p.His258=) c.1800C>T (p.His600=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.67721885C>A | CA413426645 | AR | c.*719C>A (n.*719C>A) c.2371C>A (p.Leu791Ile) c.998C>A (n.998C>A) c.2174-1801C>A (n.2174-1801C>A) c.775C>A (p.Leu259Ile) c.1801C>A (p.Leu601Ile) | dbSNP |
X | g.67721885C>G | CA413426647 | AR | c.*719C>G (n.*719C>G) c.2371C>G (p.Leu791Val) c.998C>G (n.998C>G) c.2174-1801C>G (n.2174-1801C>G) c.775C>G (p.Leu259Val) c.1801C>G (p.Leu601Val) | dbSNP |
X | g.67721885C>T | CA413426650 | AR | c.*719C>T (n.*719C>T) c.2371C>T (p.Leu791Phe) c.998C>T (n.998C>T) c.2174-1801C>T (n.2174-1801C>T) c.775C>T (p.Leu259Phe) c.1801C>T (p.Leu601Phe) | dbSNP |
X | g.67721886T>A | CA413426654 | AR | c.*720T>A (n.*720T>A) c.2372T>A (p.Leu791His) c.999T>A (n.999T>A) c.2174-1800T>A (n.2174-1800T>A) c.776T>A (p.Leu259His) c.1802T>A (p.Leu601His) | dbSNP |
X | g.67721886T>C | CA413426656 | AR | c.*720T>C (n.*720T>C) c.2372T>C (p.Leu791Pro) c.999T>C (n.999T>C) c.2174-1800T>C (n.2174-1800T>C) c.776T>C (p.Leu259Pro) c.1802T>C (p.Leu601Pro) | dbSNP |
X | g.67721886T>G | CA413426658 | AR | c.*720T>G (n.*720T>G) c.2372T>G (p.Leu791Arg) c.999T>G (n.999T>G) c.2174-1800T>G (n.2174-1800T>G) c.776T>G (p.Leu259Arg) c.1802T>G (p.Leu601Arg) | |
X | g.67721887C>A | CA516970769 | AR | c.*721C>A (n.*721C>A) c.2373C>A (p.Leu791=) c.1000C>A (n.1000C>A) c.2174-1799C>A (n.2174-1799C>A) c.777C>A (p.Leu259=) c.1803C>A (p.Leu601=) | dbSNP |
X | g.67721887C>G | CA516970767 | AR | c.*721C>G (n.*721C>G) c.2373C>G (p.Leu791=) c.1000C>G (n.1000C>G) c.2174-1799C>G (n.2174-1799C>G) c.777C>G (p.Leu259=) c.1803C>G (p.Leu601=) | dbSNP |
X | g.67721887C>T | CA516970766 | AR | c.*721C>T (n.*721C>T) c.2373C>T (p.Leu791=) c.1000C>T (n.1000C>T) c.2174-1799C>T (n.2174-1799C>T) c.777C>T (p.Leu259=) c.1803C>T (p.Leu601=) | dbSNP COSMIC COSMIC |
X | g.67721888T>A | CA413426662 | AR | c.*722T>A (n.*722T>A) c.2374T>A (p.Ser792Thr) c.1001T>A (n.1001T>A) c.2174-1798T>A (n.2174-1798T>A) c.778T>A (p.Ser260Thr) c.1804T>A (p.Ser602Thr) | dbSNP |
X | g.67721888T>C | CA413426665 | AR | c.*722T>C (n.*722T>C) c.2374T>C (p.Ser792Pro) c.1001T>C (n.1001T>C) c.2174-1798T>C (n.2174-1798T>C) c.778T>C (p.Ser260Pro) c.1804T>C (p.Ser602Pro) | COSMIC |
X | g.67721888T>G | CA413426667 | AR | c.*722T>G (n.*722T>G) c.2374T>G (p.Ser792Ala) c.1001T>G (n.1001T>G) c.2174-1798T>G (n.2174-1798T>G) c.778T>G (p.Ser260Ala) c.1804T>G (p.Ser602Ala) | |
X | g.67721889C>A | CA413426669 | AR | c.*723C>A (n.*723C>A) c.2375C>A (p.Ser792Tyr) c.1002C>A (n.1002C>A) c.2174-1797C>A (n.2174-1797C>A) c.779C>A (p.Ser260Tyr) c.1805C>A (p.Ser602Tyr) | |
X | g.67721889C>G | CA413426672 | AR | c.*723C>G (n.*723C>G) c.2375C>G (p.Ser792Cys) c.1002C>G (n.1002C>G) c.2174-1797C>G (n.2174-1797C>G) c.779C>G (p.Ser260Cys) c.1805C>G (p.Ser602Cys) | dbSNP |
X | g.67721889C>T | CA413426675 | AR | c.*723C>T (n.*723C>T) c.2375C>T (p.Ser792Phe) c.1002C>T (n.1002C>T) c.2174-1797C>T (n.2174-1797C>T) c.779C>T (p.Ser260Phe) c.1805C>T (p.Ser602Phe) | dbSNP |
X | g.67721890T>A | CA516970777 | AR | c.*724T>A (n.*724T>A) c.2376T>A (p.Ser792=) c.1003T>A (n.1003T>A) c.2174-1796T>A (n.2174-1796T>A) c.780T>A (p.Ser260=) c.1806T>A (p.Ser602=) | dbSNP |
X | g.67721890T>C | CA516970779 | AR | c.*724T>C (n.*724T>C) c.2376T>C (p.Ser792=) c.1003T>C (n.1003T>C) c.2174-1796T>C (n.2174-1796T>C) c.780T>C (p.Ser260=) c.1806T>C (p.Ser602=) | |
X | g.67721890T>G | CA516970780 | AR | c.*724T>G (n.*724T>G) c.2376T>G (p.Ser792=) c.1003T>G (n.1003T>G) c.2174-1796T>G (n.2174-1796T>G) c.780T>G (p.Ser260=) c.1806T>G (p.Ser602=) |