Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.123218607T>ACA452054349TRDNc.2184A>T (p.Gly728=)
c.2103A>T (p.Gly701=)
6g.123218607T>CCA452054350TRDNc.2184A>G (p.Gly728=)
c.2103A>G (p.Gly701=)
dbSNP gnomAD v2 gnomAD v4
6g.123218607T>GCA452054351TRDNc.2184A>C (p.Gly728=)
c.2103A>C (p.Gly701=)
6g.123218607T=CA1660320059TRDNc.2184A= (p.Gly728=)
c.2103A= (p.Gly701=)
6g.123218608C>ACA365564293TRDNc.2183G>T (p.Gly728Val)
c.2102G>T (p.Gly701Val)
ClinVar
6g.123218608C>GCA365564294TRDNc.2183G>C (p.Gly728Ala)
c.2102G>C (p.Gly701Ala)
gnomAD v4
6g.123218608C>TCA365564295TRDNc.2183G>A (p.Gly728Glu)
c.2102G>A (p.Gly701Glu)
6g.123218609C>ACA365564296TRDNc.2182G>T (p.Gly728Ter)
c.2101G>T (p.Gly701Ter)
6g.123218609C=CA1660320062TRDNc.2182G= (p.Gly728=)
c.2101G= (p.Gly701=)
6g.123218609C>GCA365564297TRDNc.2182G>C (p.Gly728Arg)
c.2101G>C (p.Gly701Arg)
6g.123218609C>TCA3983579TRDNc.2182G>A (p.Gly728Arg)
c.2101G>A (p.Gly701Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.123218610T>ACA365564299TRDNc.2181A>T (p.Gln727His)
c.2100A>T (p.Gln700His)
6g.123218610T>CCA452054352TRDNc.2181A>G (p.Gln727=)
c.2100A>G (p.Gln700=)
6g.123218610T>GCA365564298TRDNc.2181A>C (p.Gln727His)
c.2100A>C (p.Gln700His)
6g.123218611T>ACA365564301TRDNc.2180A>T (p.Gln727Leu)
c.2099A>T (p.Gln700Leu)
6g.123218611T>CCA365564303TRDNc.2180A>G (p.Gln727Arg)
c.2099A>G (p.Gln700Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.123218611T>GCA365564306TRDNc.2180A>C (p.Gln727Pro)
c.2099A>C (p.Gln700Pro)
6g.123218611T=CA1660320067TRDNc.2180A= (p.Gln727=)
c.2099A= (p.Gln700=)
6g.123218612G>ACA3983580TRDNc.2179C>T (p.Gln727Ter)
c.2098C>T (p.Gln700Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218612G>CCA365564307TRDNc.2179C>G (p.Gln727Glu)
c.2098C>G (p.Gln700Glu)
6g.123218612G=CA1660320073TRDNc.2179C= (p.Gln727=)
c.2098C= (p.Gln700=)
6g.123218612G>TCA365564308TRDNc.2179C>A (p.Gln727Lys)
c.2098C>A (p.Gln700Lys)
6g.123218613_123218627delCA2578730296TRDNc.2165_2179del (p.Pro722_Gln726del)
c.2084_2098del (p.Pro695_Gln699del)
6g.123218613T>ACA365564309TRDNc.2178A>T (p.Gln726His)
c.2097A>T (p.Gln699His)
6g.123218613T>CCA452054353TRDNc.2178A>G (p.Gln726=)
c.2097A>G (p.Gln699=)
6g.123218613T>GCA365564310TRDNc.2178A>C (p.Gln726His)
c.2097A>C (p.Gln699His)
dbSNP
6g.123218613T=CA1660320079TRDNc.2178A= (p.Gln726=)
c.2097A= (p.Gln699=)
6g.123218614T>ACA365564312TRDNc.2177A>T (p.Gln726Leu)
c.2096A>T (p.Gln699Leu)
6g.123218614T>CCA365564313TRDNc.2177A>G (p.Gln726Arg)
c.2096A>G (p.Gln699Arg)
6g.123218614T>GCA365564315TRDNc.2177A>C (p.Gln726Pro)
c.2096A>C (p.Gln699Pro)
6g.123218615G>ACA365564319TRDNc.2176C>T (p.Gln726Ter)
c.2095C>T (p.Gln699Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.123218615G>CCA365564317TRDNc.2176C>G (p.Gln726Glu)
c.2095C>G (p.Gln699Glu)
gnomAD v4
6g.123218615G=CA1660320083TRDNc.2176C= (p.Gln726=)
c.2095C= (p.Gln699=)
6g.123218615G>TCA365564316TRDNc.2176C>A (p.Gln726Lys)
c.2095C>A (p.Gln699Lys)
6g.123218616C>ACA365564320TRDNc.2175G>T (p.Lys725Asn)
c.2094G>T (p.Lys698Asn)
dbSNP
6g.123218616C=CA1660320085TRDNc.2175G= (p.Lys725=)
c.2094G= (p.Lys698=)
6g.123218616C>GCA365564322TRDNc.2175G>C (p.Lys725Asn)
c.2094G>C (p.Lys698Asn)
6g.123218616C>TCA452054354TRDNc.2175G>A (p.Lys725=)
c.2094G>A (p.Lys698=)
dbSNP gnomAD v4
6g.123218617T>ACA365564324TRDNc.2174A>T (p.Lys725Met)
c.2093A>T (p.Lys698Met)
6g.123218617T>CCA365564325TRDNc.2174A>G (p.Lys725Arg)
c.2093A>G (p.Lys698Arg)
6g.123218617T>GCA365564326TRDNc.2174A>C (p.Lys725Thr)
c.2093A>C (p.Lys698Thr)
6g.123218618T>ACA365564327TRDNc.2173A>T (p.Lys725Ter)
c.2092A>T (p.Lys698Ter)
6g.123218618T>CCA365564328TRDNc.2173A>G (p.Lys725Glu)
c.2092A>G (p.Lys698Glu)
6g.123218618T>GCA365564329TRDNc.2173A>C (p.Lys725Gln)
c.2092A>C (p.Lys698Gln)
6g.123218619C>ACA365564331TRDNc.2172G>T (p.Gln724His)
c.2091G>T (p.Gln697His)
gnomAD v4
6g.123218619C>GCA365564332TRDNc.2172G>C (p.Gln724His)
c.2091G>C (p.Gln697His)
6g.123218619C>TCA452054355TRDNc.2172G>A (p.Gln724=)
c.2091G>A (p.Gln697=)
6g.123218620T>ACA365564334TRDNc.2171A>T (p.Gln724Leu)
c.2090A>T (p.Gln697Leu)
gnomAD v4
6g.123218620T>CCA365564335TRDNc.2171A>G (p.Gln724Arg)
c.2090A>G (p.Gln697Arg)
dbSNP
6g.123218620T>GCA365564338TRDNc.2171A>C (p.Gln724Pro)
c.2090A>C (p.Gln697Pro)
6g.123218620T=CA1660320088TRDNc.2171A= (p.Gln724=)
c.2090A= (p.Gln697=)
6g.123218621G>ACA365564342TRDNc.2170C>T (p.Gln724Ter)
c.2089C>T (p.Gln697Ter)
6g.123218621G>CCA365564341TRDNc.2170C>G (p.Gln724Glu)
c.2089C>G (p.Gln697Glu)
gnomAD v4
6g.123218621G>TCA365564339TRDNc.2170C>A (p.Gln724Lys)
c.2089C>A (p.Gln697Lys)
6g.123218622T>ACA452054358TRDNc.2169A>T (p.Gly723=)
c.2088A>T (p.Gly696=)
6g.123218622T>CCA3983581TRDNc.2169A>G (p.Gly723=)
c.2088A>G (p.Gly696=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218622T>GCA452054359TRDNc.2169A>C (p.Gly723=)
c.2088A>C (p.Gly696=)
6g.123218622T=CA1660320093TRDNc.2169A= (p.Gly723=)
c.2088A= (p.Gly696=)
6g.123218623C>ACA365564345TRDNc.2168G>T (p.Gly723Val)
c.2087G>T (p.Gly696Val)
gnomAD v4
6g.123218623C>GCA365564346TRDNc.2168G>C (p.Gly723Ala)
c.2087G>C (p.Gly696Ala)
6g.123218623C>TCA365564347TRDNc.2168G>A (p.Gly723Glu)
c.2087G>A (p.Gly696Glu)
6g.123218624C>ACA365564350TRDNc.2167G>T (p.Gly723Ter)
c.2086G>T (p.Gly696Ter)
COSMIC
6g.123218624C>GCA365564351TRDNc.2167G>C (p.Gly723Arg)
c.2086G>C (p.Gly696Arg)
6g.123218624C>TCA365564355TRDNc.2167G>A (p.Gly723Arg)
c.2086G>A (p.Gly696Arg)
ClinVar dbSNP gnomAD v4
6g.123218625T>ACA452054360TRDNc.2166A>T (p.Pro722=)
c.2085A>T (p.Pro695=)
6g.123218625T>CCA452054361TRDNc.2166A>G (p.Pro722=)
c.2085A>G (p.Pro695=)
gnomAD v4
6g.123218625T>GCA452054362TRDNc.2166A>C (p.Pro722=)
c.2085A>C (p.Pro695=)
6g.123218626G>ACA365564357TRDNc.2165C>T (p.Pro722Leu)
c.2084C>T (p.Pro695Leu)
ClinVar dbSNP gnomAD v4
6g.123218626G>CCA365564359TRDNc.2165C>G (p.Pro722Arg)
c.2084C>G (p.Pro695Arg)
6g.123218626G>TCA365564360TRDNc.2165C>A (p.Pro722Gln)
c.2084C>A (p.Pro695Gln)
6g.123218627G>ACA365564362TRDNc.2164C>T (p.Pro722Ser)
c.2083C>T (p.Pro695Ser)
gnomAD v4
6g.123218627G>CCA147201579TRDNc.2164C>G (p.Pro722Ala)
c.2083C>G (p.Pro695Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.123218627G=CA1660320100TRDNc.2164C= (p.Pro722=)
c.2083C= (p.Pro695=)
6g.123218627G>TCA365564377TRDNc.2164C>A (p.Pro722Thr)
c.2083C>A (p.Pro695Thr)
6g.123218628A>CCA452054363TRDNc.2163T>G (p.Ser721=)
c.2082T>G (p.Ser694=)
6g.123218628A>GCA452054364TRDNc.2163T>C (p.Ser721=)
c.2082T>C (p.Ser694=)
gnomAD v4
6g.123218628A>TCA452054365TRDNc.2163T>A (p.Ser721=)
c.2082T>A (p.Ser694=)
6g.123218629G>ACA365564380TRDNc.2162C>T (p.Ser721Phe)
c.2081C>T (p.Ser694Phe)
6g.123218629G>CCA365564381TRDNc.2162C>G (p.Ser721Cys)
c.2081C>G (p.Ser694Cys)
6g.123218629G>TCA365564378TRDNc.2162C>A (p.Ser721Tyr)
c.2081C>A (p.Ser694Tyr)
gnomAD v4 COSMIC
6g.123218630A>CCA365564384TRDNc.2161T>G (p.Ser721Ala)
c.2080T>G (p.Ser694Ala)
6g.123218630A>GCA365564385TRDNc.2161T>C (p.Ser721Pro)
c.2080T>C (p.Ser694Pro)
gnomAD v4
6g.123218630A>TCA365564386TRDNc.2161T>A (p.Ser721Thr)
c.2080T>A (p.Ser694Thr)
6g.123218631A=CA1660320104TRDNc.2160T= (p.Asn720=)
c.2079T= (p.Asn693=)
6g.123218631A>CCA3983582TRDNc.2160T>G (p.Asn720Lys)
c.2079T>G (p.Asn693Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.123218631A>GCA452054366TRDNc.2160T>C (p.Asn720=)
c.2079T>C (p.Asn693=)
ClinVar dbSNP
6g.123218631A>TCA365564388TRDNc.2160T>A (p.Asn720Lys)
c.2079T>A (p.Asn693Lys)
6g.123218632T>ACA365564394TRDNc.2159A>T (p.Asn720Ile)
c.2078A>T (p.Asn693Ile)
6g.123218632T>CCA365564391TRDNc.2159A>G (p.Asn720Ser)
c.2078A>G (p.Asn693Ser)
6g.123218632T>GCA365564393TRDNc.2159A>C (p.Asn720Thr)
c.2078A>C (p.Asn693Thr)
6g.123218633T>ACA365564396TRDNc.2158A>T (p.Asn720Tyr)
c.2077A>T (p.Asn693Tyr)
6g.123218633T>CCA365564399TRDNc.2158A>G (p.Asn720Asp)
c.2077A>G (p.Asn693Asp)
6g.123218633T>GCA365564400TRDNc.2158A>C (p.Asn720His)
c.2077A>C (p.Asn693His)
6g.123218634T>ACA452054368TRDNc.2157A>T (p.Ala719=)
c.2076A>T (p.Ala692=)
6g.123218634T>CCA452054370TRDNc.2157A>G (p.Ala719=)
c.2076A>G (p.Ala692=)
6g.123218634T>GCA452054371TRDNc.2157A>C (p.Ala719=)
c.2076A>C (p.Ala692=)
dbSNP gnomAD v2 gnomAD v4
6g.123218634T=CA1660320107TRDNc.2157A= (p.Ala719=)
c.2076A= (p.Ala692=)
6g.123218635G>ACA365564401TRDNc.2156C>T (p.Ala719Val)
c.2075C>T (p.Ala692Val)
6g.123218635G>CCA365564402TRDNc.2156C>G (p.Ala719Gly)
c.2075C>G (p.Ala692Gly)
6g.123218635G>TCA365564403TRDNc.2156C>A (p.Ala719Glu)
c.2075C>A (p.Ala692Glu)
6g.123218636C>ACA365564405TRDNc.2155G>T (p.Ala719Ser)
c.2074G>T (p.Ala692Ser)
gnomAD v4 COSMIC
6g.123218636C>GCA365564408TRDNc.2155G>C (p.Ala719Pro)
c.2074G>C (p.Ala692Pro)
6g.123218636C>TCA365564404TRDNc.2155G>A (p.Ala719Thr)
c.2074G>A (p.Ala692Thr)
6g.123218637T>ACA365564412TRDNc.2154A>T (p.Gln718His)
c.2073A>T (p.Gln691His)
6g.123218637T>CCA452054372TRDNc.2154A>G (p.Gln718=)
c.2073A>G (p.Gln691=)
6g.123218637T>GCA365564414TRDNc.2154A>C (p.Gln718His)
c.2073A>C (p.Gln691His)
ClinVar
6g.123218638T>ACA365564421TRDNc.2153A>T (p.Gln718Leu)
c.2072A>T (p.Gln691Leu)
6g.123218638T>CCA365564423TRDNc.2153A>G (p.Gln718Arg)
c.2072A>G (p.Gln691Arg)
6g.123218638T>GCA365564424TRDNc.2153A>C (p.Gln718Pro)
c.2072A>C (p.Gln691Pro)
6g.123218639G>ACA365564426TRDNc.2152C>T (p.Gln718Ter)
c.2071C>T (p.Gln691Ter)
6g.123218639G>CCA365564427TRDNc.2152C>G (p.Gln718Glu)
c.2071C>G (p.Gln691Glu)
6g.123218639G=CA1660320109TRDNc.2152C= (p.Gln718=)
c.2071C= (p.Gln691=)
6g.123218639G>TCA365564428TRDNc.2152C>A (p.Gln718Lys)
c.2071C>A (p.Gln691Lys)
dbSNP gnomAD v2 gnomAD v4
6g.123218640A>CCA452054374TRDNc.2151T>G (p.Gly717=)
c.2070T>G (p.Gly690=)
6g.123218640A>GCA452054375TRDNc.2151T>C (p.Gly717=)
c.2070T>C (p.Gly690=)
COSMIC
6g.123218640A>TCA452054376TRDNc.2151T>A (p.Gly717=)
c.2070T>A (p.Gly690=)
6g.123218641C>ACA365564429TRDNc.2150G>T (p.Gly717Val)
c.2069G>T (p.Gly690Val)
6g.123218641C=CA1660320113TRDNc.2150G= (p.Gly717=)
c.2069G= (p.Gly690=)
6g.123218641C>GCA365564431TRDNc.2150G>C (p.Gly717Ala)
c.2069G>C (p.Gly690Ala)
gnomAD v4
6g.123218641C>TCA147201580TRDNc.2150G>A (p.Gly717Asp)
c.2069G>A (p.Gly690Asp)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.123218641_123218642delCA2580074837TRDNc.2149_2150del (p.Gly717SerfsTer18)
c.2068_2069del (p.Gly690SerfsTer18)
ClinVar
6g.123218642C>ACA3983583TRDNc.2149G>T (p.Gly717Cys)
c.2068G>T (p.Gly690Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218642C=CA1660320115TRDNc.2149G= (p.Gly717=)
c.2068G= (p.Gly690=)
6g.123218642C>GCA365564434TRDNc.2149G>C (p.Gly717Arg)
c.2068G>C (p.Gly690Arg)
gnomAD v4
6g.123218642C>TCA365564437TRDNc.2149G>A (p.Gly717Ser)
c.2068G>A (p.Gly690Ser)
COSMIC
6g.123218643A>CCA452054378TRDNc.2148T>G (p.Ser716=)
c.2067T>G (p.Ser689=)
6g.123218643A>GCA452054379TRDNc.2148T>C (p.Ser716=)
c.2067T>C (p.Ser689=)
6g.123218643A>TCA452054380TRDNc.2148T>A (p.Ser716=)
c.2067T>A (p.Ser689=)
6g.123218644G>ACA365564444TRDNc.2147C>T (p.Ser716Phe)
c.2066C>T (p.Ser689Phe)
6g.123218644G>CCA365564439TRDNc.2147C>G (p.Ser716Cys)
c.2066C>G (p.Ser689Cys)
dbSNP gnomAD v3 gnomAD v4
6g.123218644G=CA1660320117TRDNc.2147C= (p.Ser716=)
c.2066C= (p.Ser689=)
6g.123218644G>TCA365564440TRDNc.2147C>A (p.Ser716Tyr)
c.2066C>A (p.Ser689Tyr)
6g.123218645A=CA1660320120TRDNc.2146T= (p.Ser716=)
c.2065T= (p.Ser689=)
6g.123218645A>CCA365564447TRDNc.2146T>G (p.Ser716Ala)
c.2065T>G (p.Ser689Ala)
6g.123218645A>GCA365564449TRDNc.2146T>C (p.Ser716Pro)
c.2065T>C (p.Ser689Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.123218645A>TCA365564459TRDNc.2146T>A (p.Ser716Thr)
c.2065T>A (p.Ser689Thr)
dbSNP
6g.123218646G>ACA452054381TRDNc.2145C>T (p.Ser715=)
c.2064C>T (p.Ser688=)
6g.123218646G>CCA365564460TRDNc.2145C>G (p.Ser715Arg)
c.2064C>G (p.Ser688Arg)
6g.123218646G>TCA365564462TRDNc.2145C>A (p.Ser715Arg)
c.2064C>A (p.Ser688Arg)
6g.123218647C>ACA365564464TRDNc.2144G>T (p.Ser715Ile)
c.2063G>T (p.Ser688Ile)
6g.123218647C>GCA365564465TRDNc.2144G>C (p.Ser715Thr)
c.2063G>C (p.Ser688Thr)
6g.123218647C>TCA365564466TRDNc.2144G>A (p.Ser715Asn)
c.2063G>A (p.Ser688Asn)
gnomAD v4
6g.123218648T>ACA365564467TRDNc.2143A>T (p.Ser715Cys)
c.2062A>T (p.Ser688Cys)
6g.123218648T>CCA3983584TRDNc.2143A>G (p.Ser715Gly)
c.2062A>G (p.Ser688Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.123218648T>GCA365564468TRDNc.2143A>C (p.Ser715Arg)
c.2062A>C (p.Ser688Arg)
6g.123218648T=CA1660320124TRDNc.2143A= (p.Ser715=)
c.2062A= (p.Ser688=)
6g.123218649C>ACA365564472TRDNc.2142G>T (p.Glu714Asp)
c.2061G>T (p.Glu687Asp)
6g.123218649C=CA1660320130TRDNc.2142G= (p.Glu714=)
c.2061G= (p.Glu687=)
6g.123218649C>GCA365564473TRDNc.2142G>C (p.Glu714Asp)
c.2061G>C (p.Glu687Asp)
6g.123218649C>TCA3983585TRDNc.2142G>A (p.Glu714=)
c.2061G>A (p.Glu687=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218650T>ACA365564474TRDNc.2141A>T (p.Glu714Val)
c.2060A>T (p.Glu687Val)
6g.123218650T>CCA365564476TRDNc.2141A>G (p.Glu714Gly)
c.2060A>G (p.Glu687Gly)
dbSNP
6g.123218650T>GCA365564478TRDNc.2141A>C (p.Glu714Ala)
c.2060A>C (p.Glu687Ala)
6g.123218650T=CA1660320133TRDNc.2141A= (p.Glu714=)
c.2060A= (p.Glu687=)
6g.123218651C>ACA365564480TRDNc.2140G>T (p.Glu714Ter)
c.2059G>T (p.Glu687Ter)
6g.123218651C>GCA365564487TRDNc.2140G>C (p.Glu714Gln)
c.2059G>C (p.Glu687Gln)
6g.123218651C>TCA365564489TRDNc.2140G>A (p.Glu714Lys)
c.2059G>A (p.Glu687Lys)
COSMIC
6g.123218652T>ACA452054383TRDNc.2139A>T (p.Gly713=)
c.2058A>T (p.Gly686=)
6g.123218652T>CCA452054384TRDNc.2139A>G (p.Gly713=)
c.2058A>G (p.Gly686=)
6g.123218652T>GCA452054385TRDNc.2139A>C (p.Gly713=)
c.2058A>C (p.Gly686=)
6g.123218653C>ACA365564492TRDNc.2138G>T (p.Gly713Val)
c.2057G>T (p.Gly686Val)
6g.123218653C=CA1660320136TRDNc.2138G= (p.Gly713=)
c.2057G= (p.Gly686=)
6g.123218653C>GCA365564495TRDNc.2138G>C (p.Gly713Ala)
c.2057G>C (p.Gly686Ala)
6g.123218653C>TCA3983586TRDNc.2138G>A (p.Gly713Glu)
c.2057G>A (p.Gly686Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218654C>ACA365564496TRDNc.2137G>T (p.Gly713Ter)
c.2056G>T (p.Gly686Ter)
6g.123218654C>GCA365564497TRDNc.2137G>C (p.Gly713Arg)
c.2056G>C (p.Gly686Arg)
6g.123218654C>TCA365564498TRDNc.2137G>A (p.Gly713Arg)
c.2056G>A (p.Gly686Arg)
COSMIC
6g.123218656_123218657insACAGCA818271920TRDNc.2137_2138insTCTG (p.Gly713ValfsTer24)
c.2056_2057insTCTG (p.Gly686ValfsTer24)
dbSNP gnomAD v3 gnomAD v4
6g.123218655A>CCA452054386TRDNc.2136T>G (p.Pro712=)
c.2055T>G (p.Pro685=)
6g.123218655A>GCA452054387TRDNc.2136T>C (p.Pro712=)
c.2055T>C (p.Pro685=)
6g.123218655A>TCA452054388TRDNc.2136T>A (p.Pro712=)
c.2055T>A (p.Pro685=)
6g.123218656G>ACA3983587TRDNc.2135C>T (p.Pro712Leu)
c.2054C>T (p.Pro685Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.123218656G>CCA3983588TRDNc.2135C>G (p.Pro712Arg)
c.2054C>G (p.Pro685Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.123218656G=CA1660320137TRDNc.2135C= (p.Pro712=)
c.2054C= (p.Pro685=)
6g.123218656G>TCA147201581TRDNc.2135C>A (p.Pro712His)
c.2054C>A (p.Pro685His)
dbSNP
6g.123218657G>ACA365564502TRDNc.2134C>T (p.Pro712Ser)
c.2053C>T (p.Pro685Ser)
ClinVar dbSNP gnomAD v4
6g.123218657G>CCA365564505TRDNc.2134C>G (p.Pro712Ala)
c.2053C>G (p.Pro685Ala)
6g.123218657G=CA1660320138TRDNc.2134C= (p.Pro712=)
c.2053C= (p.Pro685=)
6g.123218657G>TCA365564507TRDNc.2134C>A (p.Pro712Thr)
c.2053C>A (p.Pro685Thr)
6g.123218658G>ACA452054389TRDNc.2133C>T (p.Arg711=)
c.2052C>T (p.Arg684=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.123218658G>CCA452054390TRDNc.2133C>G (p.Arg711=)
c.2052C>G (p.Arg684=)
6g.123218658G=CA1660320139TRDNc.2133C= (p.Arg711=)
c.2052C= (p.Arg684=)
6g.123218658G>TCA452054391TRDNc.2133C>A (p.Arg711=)
c.2052C>A (p.Arg684=)
6g.123218659C>ACA365564511TRDNc.2132G>T (p.Arg711Leu)
c.2051G>T (p.Arg684Leu)
6g.123218659C=CA1660320140TRDNc.2132G= (p.Arg711=)
c.2051G= (p.Arg684=)
6g.123218659C>GCA365564512TRDNc.2132G>C (p.Arg711Pro)
c.2051G>C (p.Arg684Pro)
6g.123218659C>TCA3983589TRDNc.2132G>A (p.Arg711His)
c.2051G>A (p.Arg684His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.123218660G>ACA3983590TRDNc.2131C>T (p.Arg711Cys)
c.2050C>T (p.Arg684Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218660G>CCA365564514TRDNc.2131C>G (p.Arg711Gly)
c.2050C>G (p.Arg684Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.123218660G=CA1660320141TRDNc.2131C= (p.Arg711=)
c.2050C= (p.Arg684=)
6g.123218660G>TCA365564513TRDNc.2131C>A (p.Arg711Ser)
c.2050C>A (p.Arg684Ser)
6g.123218661G>ACA452054393TRDNc.2130C>T (p.Asp710=)
c.2049C>T (p.Asp683=)
gnomAD v4
6g.123218661G>CCA365564515TRDNc.2130C>G (p.Asp710Glu)
c.2049C>G (p.Asp683Glu)
6g.123218661G=CA1660320142TRDNc.2130C= (p.Asp710=)
c.2049C= (p.Asp683=)
6g.123218661G>TCA365564517TRDNc.2130C>A (p.Asp710Glu)
c.2049C>A (p.Asp683Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.123218662T>ACA365564519TRDNc.2129A>T (p.Asp710Val)
c.2048A>T (p.Asp683Val)
6g.123218662T>CCA365564520TRDNc.2129A>G (p.Asp710Gly)
c.2048A>G (p.Asp683Gly)
dbSNP gnomAD v2 gnomAD v4
6g.123218662T>GCA365564521TRDNc.2129A>C (p.Asp710Ala)
c.2048A>C (p.Asp683Ala)
6g.123218662T=CA1660320143TRDNc.2129A= (p.Asp710=)
c.2048A= (p.Asp683=)
6g.123218663C>ACA365564524TRDNc.2128G>T (p.Asp710Tyr)
c.2047G>T (p.Asp683Tyr)
6g.123218663C>GCA365564526TRDNc.2128G>C (p.Asp710His)
c.2047G>C (p.Asp683His)
6g.123218663C>TCA365564523TRDNc.2128G>A (p.Asp710Asn)
c.2047G>A (p.Asp683Asn)
COSMIC
6g.123218664T>ACA452054398TRDNc.2127A>T (p.Ala709=)
c.2046A>T (p.Ala682=)
6g.123218664T>CCA452054396TRDNc.2127A>G (p.Ala709=)
c.2046A>G (p.Ala682=)
dbSNP
6g.123218664T>GCA452054395TRDNc.2127A>C (p.Ala709=)
c.2046A>C (p.Ala682=)
6g.123218664T=CA1660320144TRDNc.2127A= (p.Ala709=)
c.2046A= (p.Ala682=)
6g.123218665G>ACA365564529TRDNc.2126C>T (p.Ala709Val)
c.2045C>T (p.Ala682Val)
6g.123218665G>CCA365564528TRDNc.2126C>G (p.Ala709Gly)
c.2045C>G (p.Ala682Gly)
6g.123218665G=CA1660320145TRDNc.2126C= (p.Ala709=)
c.2045C= (p.Ala682=)
6g.123218665G>TCA10576679TRDNc.2126C>A (p.Ala709Glu)
c.2045C>A (p.Ala682Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.123218666C>ACA365564530TRDNc.2125G>T (p.Ala709Ser)
c.2044G>T (p.Ala682Ser)
6g.123218666C>GCA365564533TRDNc.2125G>C (p.Ala709Pro)
c.2044G>C (p.Ala682Pro)
6g.123218666C>TCA365564531TRDNc.2125G>A (p.Ala709Thr)
c.2044G>A (p.Ala682Thr)
6g.123218667A=CA1660320146TRDNc.2124T= (p.Pro708=)
c.2043T= (p.Pro681=)
6g.123218667A>CCA452054404TRDNc.2124T>G (p.Pro708=)
c.2043T>G (p.Pro681=)
6g.123218667A>GCA452054406TRDNc.2124T>C (p.Pro708=)
c.2043T>C (p.Pro681=)
dbSNP gnomAD v2 gnomAD v4
6g.123218667A>TCA452054405TRDNc.2124T>A (p.Pro708=)
c.2043T>A (p.Pro681=)
COSMIC
6g.123218668G>ACA365564534TRDNc.2123C>T (p.Pro708Leu)
c.2042C>T (p.Pro681Leu)
ClinVar
6g.123218668G>CCA365564536TRDNc.2123C>G (p.Pro708Arg)
c.2042C>G (p.Pro681Arg)
6g.123218668G>TCA365564538TRDNc.2123C>A (p.Pro708His)
c.2042C>A (p.Pro681His)
6g.123218669G>ACA3983591TRDNc.2122C>T (p.Pro708Ser)
c.2041C>T (p.Pro681Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218669G>CCA365564540TRDNc.2122C>G (p.Pro708Ala)
c.2041C>G (p.Pro681Ala)
6g.123218669G=CA1660320147TRDNc.2122C= (p.Pro708=)
c.2041C= (p.Pro681=)
6g.123218669G>TCA365564541TRDNc.2122C>A (p.Pro708Thr)
c.2041C>A (p.Pro681Thr)
6g.123218670A>CCA452054409TRDNc.2121T>G (p.Thr707=)
c.2040T>G (p.Thr680=)
6g.123218670A>GCA452054410TRDNc.2121T>C (p.Thr707=)
c.2040T>C (p.Thr680=)
6g.123218670A>TCA452054411TRDNc.2121T>A (p.Thr707=)
c.2040T>A (p.Thr680=)
ClinVar
6g.123218671G>ACA365564544TRDNc.2120C>T (p.Thr707Ile)
c.2039C>T (p.Thr680Ile)
dbSNP
6g.123218671G>CCA365564545TRDNc.2120C>G (p.Thr707Ser)
c.2039C>G (p.Thr680Ser)
dbSNP
6g.123218671G=CA1660320148TRDNc.2120C= (p.Thr707=)
c.2039C= (p.Thr680=)
6g.123218671G>TCA365564546TRDNc.2120C>A (p.Thr707Asn)
c.2039C>A (p.Thr680Asn)
6g.123218672T>ACA365564547TRDNc.2119A>T (p.Thr707Ser)
c.2038A>T (p.Thr680Ser)
dbSNP gnomAD v2
6g.123218672T>CCA365564549TRDNc.2119A>G (p.Thr707Ala)
c.2038A>G (p.Thr680Ala)
6g.123218672T>GCA365564550TRDNc.2119A>C (p.Thr707Pro)
c.2038A>C (p.Thr680Pro)
6g.123218672T=CA1660320149TRDNc.2119A= (p.Thr707=)
c.2038A= (p.Thr680=)
6g.123218673G>ACA452054412TRDNc.2118C>T (p.Phe706=)
c.2037C>T (p.Phe679=)
gnomAD v4
6g.123218673G>CCA365564555TRDNc.2118C>G (p.Phe706Leu)
c.2037C>G (p.Phe679Leu)
6g.123218673G>TCA365564553TRDNc.2118C>A (p.Phe706Leu)
c.2037C>A (p.Phe679Leu)
6g.123218674A>CCA365564556TRDNc.2117T>G (p.Phe706Cys)
c.2036T>G (p.Phe679Cys)
6g.123218674A>GCA365564557TRDNc.2117T>C (p.Phe706Ser)
c.2036T>C (p.Phe679Ser)
6g.123218674A>TCA365564558TRDNc.2117T>A (p.Phe706Tyr)
c.2036T>A (p.Phe679Tyr)
6g.123218674_123218678delinsAAAGGCA1660320150TRDNc.2113_2117delinsCCTTT (p.Pro705=)
c.2032_2036delinsCCTTT (p.Pro678=)
6g.123218675A=CA1660320151TRDNc.2116T= (p.Phe706=)
c.2035T= (p.Phe679=)
6g.123218675A>CCA365564559TRDNc.2116T>G (p.Phe706Val)
c.2035T>G (p.Phe679Val)
6g.123218675A>GCA365564560TRDNc.2116T>C (p.Phe706Leu)
c.2035T>C (p.Phe679Leu)
dbSNP
6g.123218675A>TCA365564561TRDNc.2116T>A (p.Phe706Ile)
c.2035T>A (p.Phe679Ile)
6g.123218677_123218680delCA3983592TRDNc.2113_2116del (p.Pro705SerfsTer?)
c.2032_2035del (p.Pro678SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218676A>CCA452054414TRDNc.2115T>G (p.Pro705=)
c.2034T>G (p.Pro678=)
6g.123218676A>GCA452054415TRDNc.2115T>C (p.Pro705=)
c.2034T>C (p.Pro678=)
6g.123218676A>TCA452054416TRDNc.2115T>A (p.Pro705=)
c.2034T>A (p.Pro678=)
6g.123218677G>ACA3983593TRDNc.2114C>T (p.Pro705Leu)
c.2033C>T (p.Pro678Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.123218677G>CCA365564563TRDNc.2114C>G (p.Pro705Arg)
c.2033C>G (p.Pro678Arg)
6g.123218677G=CA1660320152TRDNc.2114C= (p.Pro705=)
c.2033C= (p.Pro678=)
6g.123218677G>TCA365564564TRDNc.2114C>A (p.Pro705His)
c.2033C>A (p.Pro678His)
6g.123218678G>ACA147201582TRDNc.2113C>T (p.Pro705Ser)
c.2032C>T (p.Pro678Ser)
dbSNP
6g.123218678G>CCA365564566TRDNc.2113C>G (p.Pro705Ala)
c.2032C>G (p.Pro678Ala)
6g.123218678G=CA1660320153TRDNc.2113C= (p.Pro705=)
c.2032C= (p.Pro678=)
6g.123218678G>TCA365564567TRDNc.2113C>A (p.Pro705Thr)
c.2032C>A (p.Pro678Thr)
6g.123218679A>CCA365564568TRDNc.2112T>G (p.Phe704Leu)
c.2031T>G (p.Phe677Leu)
6g.123218679A>GCA452054420TRDNc.2112T>C (p.Phe704=)
c.2031T>C (p.Phe677=)
6g.123218679A>TCA365564569TRDNc.2112T>A (p.Phe704Leu)
c.2031T>A (p.Phe677Leu)
6g.123218680A>CCA365564571TRDNc.2111T>G (p.Phe704Cys)
c.2030T>G (p.Phe677Cys)
6g.123218680A>GCA365564574TRDNc.2111T>C (p.Phe704Ser)
c.2030T>C (p.Phe677Ser)
6g.123218680A>TCA365564575TRDNc.2111T>A (p.Phe704Tyr)
c.2030T>A (p.Phe677Tyr)
6g.123218681A=CA1660320154TRDNc.2110T= (p.Phe704=)
c.2029T= (p.Phe677=)
6g.123218681A>CCA365564577TRDNc.2110T>G (p.Phe704Val)
c.2029T>G (p.Phe677Val)
6g.123218681A>GCA365564578TRDNc.2110T>C (p.Phe704Leu)
c.2029T>C (p.Phe677Leu)
6g.123218681A>TCA3983594TRDNc.2110T>A (p.Phe704Ile)
c.2029T>A (p.Phe677Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.123218682C>ACA3983595TRDNc.2109G>T (p.Gln703His)
c.2028G>T (p.Gln676His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218682C=CA1660320155TRDNc.2109G= (p.Gln703=)
c.2028G= (p.Gln676=)
6g.123218682C>GCA365564580TRDNc.2109G>C (p.Gln703His)
c.2028G>C (p.Gln676His)
6g.123218682C>TCA452054423TRDNc.2109G>A (p.Gln703=)
c.2028G>A (p.Gln676=)
6g.123218683T>ACA365564584TRDNc.2108A>T (p.Gln703Leu)
c.2027A>T (p.Gln676Leu)
dbSNP
6g.123218683T>CCA365564585TRDNc.2108A>G (p.Gln703Arg)
c.2027A>G (p.Gln676Arg)
ClinVar dbSNP
6g.123218683T>GCA365564589TRDNc.2108A>C (p.Gln703Pro)
c.2027A>C (p.Gln676Pro)
6g.123218683T=CA1660320156TRDNc.2108A= (p.Gln703=)
c.2027A= (p.Gln676=)
6g.123218684G>ACA365564590TRDNc.2107C>T (p.Gln703Ter)
c.2026C>T (p.Gln676Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.123218684G>CCA365564591TRDNc.2107C>G (p.Gln703Glu)
c.2026C>G (p.Gln676Glu)
6g.123218684G=CA1660320157TRDNc.2107C= (p.Gln703=)
c.2026C= (p.Gln676=)
6g.123218684G>TCA365564593TRDNc.2107C>A (p.Gln703Lys)
c.2026C>A (p.Gln676Lys)
6g.123218685A>CCA365564596TRDNc.2106T>G (p.Phe702Leu)
c.2025T>G (p.Phe675Leu)
6g.123218685A>GCA452054425TRDNc.2106T>C (p.Phe702=)
c.2025T>C (p.Phe675=)
6g.123218685A>TCA365564598TRDNc.2106T>A (p.Phe702Leu)
c.2025T>A (p.Phe675Leu)
6g.123218686A>CCA365564600TRDNc.2105T>G (p.Phe702Cys)
c.2024T>G (p.Phe675Cys)
6g.123218686A>GCA365564601TRDNc.2105T>C (p.Phe702Ser)
c.2024T>C (p.Phe675Ser)
6g.123218686A>TCA365564603TRDNc.2105T>A (p.Phe702Tyr)
c.2024T>A (p.Phe675Tyr)
6g.123218687A>CCA365564610TRDNc.2104T>G (p.Phe702Val)
c.2023T>G (p.Phe675Val)
6g.123218687A>GCA365564612TRDNc.2104T>C (p.Phe702Leu)
c.2023T>C (p.Phe675Leu)
6g.123218687A>TCA365564617TRDNc.2104T>A (p.Phe702Ile)
c.2023T>A (p.Phe675Ile)
6g.123218688T>ACA452054426TRDNc.2103A>T (p.Gly701=)
c.2022A>T (p.Gly674=)
6g.123218688T>CCA452054428TRDNc.2103A>G (p.Gly701=)
c.2022A>G (p.Gly674=)
6g.123218688T>GCA452054427TRDNc.2103A>C (p.Gly701=)
c.2022A>C (p.Gly674=)
6g.123218689C>ACA365564620TRDNc.2102G>T (p.Gly701Val)
c.2021G>T (p.Gly674Val)
6g.123218689C>GCA365564622TRDNc.2102G>C (p.Gly701Ala)
c.2021G>C (p.Gly674Ala)
6g.123218689C>TCA365564624TRDNc.2102G>A (p.Gly701Glu)
c.2021G>A (p.Gly674Glu)
6g.123218690C>ACA365564626TRDNc.2101G>T (p.Gly701Ter)
c.2020G>T (p.Gly674Ter)
6g.123218690C=CA1660320158TRDNc.2101G= (p.Gly701=)
c.2020G= (p.Gly674=)
6g.123218690C>GCA365564628TRDNc.2101G>C (p.Gly701Arg)
c.2020G>C (p.Gly674Arg)
6g.123218690C>TCA365564630TRDNc.2101G>A (p.Gly701Arg)
c.2020G>A (p.Gly674Arg)
dbSNP gnomAD v2 gnomAD v4
6g.123218691A=CA1660320159TRDNc.2100T= (p.Tyr700=)
c.2019T= (p.Tyr673=)
6g.123218691A>CCA365564632TRDNc.2100T>G (p.Tyr700Ter)
c.2019T>G (p.Tyr673Ter)
6g.123218691A>GCA452054431TRDNc.2100T>C (p.Tyr700=)
c.2019T>C (p.Tyr673=)
dbSNP gnomAD v3 gnomAD v4
6g.123218691A>TCA365564631TRDNc.2100T>A (p.Tyr700Ter)
c.2019T>A (p.Tyr673Ter)
6g.123218692T>ACA365564633TRDNc.2099A>T (p.Tyr700Phe)
c.2018A>T (p.Tyr673Phe)
6g.123218692T>CCA365564634TRDNc.2099A>G (p.Tyr700Cys)
c.2018A>G (p.Tyr673Cys)
dbSNP gnomAD v2 gnomAD v4
6g.123218692T>GCA365564635TRDNc.2099A>C (p.Tyr700Ser)
c.2018A>C (p.Tyr673Ser)
6g.123218692T=CA1660320160TRDNc.2099A= (p.Tyr700=)
c.2018A= (p.Tyr673=)
6g.123218693A>CCA365564636TRDNc.2098T>G (p.Tyr700Asp)
c.2017T>G (p.Tyr673Asp)
6g.123218693A>GCA365564637TRDNc.2098T>C (p.Tyr700His)
c.2017T>C (p.Tyr673His)
6g.123218693A>TCA365564638TRDNc.2098T>A (p.Tyr700Asn)
c.2017T>A (p.Tyr673Asn)
6g.123218694G>ACA452054432TRDNc.2097C>T (p.Gly699=)
c.2016C>T (p.Gly672=)
6g.123218694G>CCA452054433TRDNc.2097C>G (p.Gly699=)
c.2016C>G (p.Gly672=)
6g.123218694G>TCA452054434TRDNc.2097C>A (p.Gly699=)
c.2016C>A (p.Gly672=)
6g.123218694_123218695delinsGCCA1660320161TRDNc.2096_2097delinsGC (p.Gly699=)
c.2015_2016delinsGC (p.Gly672=)
6g.123218695C>ACA365564641TRDNc.2096G>T (p.Gly699Val)
c.2015G>T (p.Gly672Val)
6g.123218695C>GCA365564640TRDNc.2096G>C (p.Gly699Ala)
c.2015G>C (p.Gly672Ala)
gnomAD v4
6g.123218695C>TCA365564639TRDNc.2096G>A (p.Gly699Asp)
c.2015G>A (p.Gly672Asp)
6g.123218696delCA3983596TRDNc.2096del (p.Gly699AlafsTer?)
c.2015del (p.Gly672AlafsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218696C>ACA365564642TRDNc.2095G>T (p.Gly699Cys)
c.2014G>T (p.Gly672Cys)
6g.123218696C>GCA365564643TRDNc.2095G>C (p.Gly699Arg)
c.2014G>C (p.Gly672Arg)
6g.123218696C>TCA365564644TRDNc.2095G>A (p.Gly699Ser)
c.2014G>A (p.Gly672Ser)
gnomAD v4 COSMIC
6g.123218697A>CCA365564645TRDNc.2094T>G (p.Asn698Lys)
c.2013T>G (p.Asn671Lys)
6g.123218697A>GCA452054437TRDNc.2094T>C (p.Asn698=)
c.2013T>C (p.Asn671=)
ClinVar
6g.123218697A>TCA365564646TRDNc.2094T>A (p.Asn698Lys)
c.2013T>A (p.Asn671Lys)
6g.123218698T>ACA365564647TRDNc.2093A>T (p.Asn698Ile)
c.2012A>T (p.Asn671Ile)
6g.123218698T>CCA3983597TRDNc.2093A>G (p.Asn698Ser)
c.2012A>G (p.Asn671Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218698T>GCA365564648TRDNc.2093A>C (p.Asn698Thr)
c.2012A>C (p.Asn671Thr)
6g.123218698T=CA1660320162TRDNc.2093A= (p.Asn698=)
c.2012A= (p.Asn671=)
6g.123218699T>ACA365564649TRDNc.2092A>T (p.Asn698Tyr)
c.2011A>T (p.Asn671Tyr)
6g.123218699T>CCA16612100TRDNc.2092A>G (p.Asn698Asp)
c.2011A>G (p.Asn671Asp)
ClinVar dbSNP gnomAD v4
6g.123218699T>GCA3983598TRDNc.2092A>C (p.Asn698His)
c.2011A>C (p.Asn671His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.123218699T=CA1660320163TRDNc.2092A= (p.Asn698=)
c.2011A= (p.Asn671=)
6g.123218700G>ACA3983599TRDNc.2091C>T (p.Tyr697=)
c.2010C>T (p.Tyr670=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218700G>CCA365564650TRDNc.2091C>G (p.Tyr697Ter)
c.2010C>G (p.Tyr670Ter)
6g.123218700G=CA1660320164TRDNc.2091C= (p.Tyr697=)
c.2010C= (p.Tyr670=)
6g.123218700G>TCA365564651TRDNc.2091C>A (p.Tyr697Ter)
c.2010C>A (p.Tyr670Ter)
dbSNP gnomAD v2
6g.123218701T>ACA365564652TRDNc.2090A>T (p.Tyr697Phe)
c.2009A>T (p.Tyr670Phe)
6g.123218701T>CCA365564653TRDNc.2090A>G (p.Tyr697Cys)
c.2009A>G (p.Tyr670Cys)
ClinVar dbSNP
6g.123218701T>GCA365564654TRDNc.2090A>C (p.Tyr697Ser)
c.2009A>C (p.Tyr670Ser)
6g.123218701T=CA1660320165TRDNc.2090A= (p.Tyr697=)
c.2009A= (p.Tyr670=)
6g.123218702A>CCA365564655TRDNc.2089T>G (p.Tyr697Asp)
c.2008T>G (p.Tyr670Asp)
ClinVar gnomAD v4
6g.123218702A>GCA365564656TRDNc.2089T>C (p.Tyr697His)
c.2008T>C (p.Tyr670His)
6g.123218702A>TCA365564657TRDNc.2089T>A (p.Tyr697Asn)
c.2008T>A (p.Tyr670Asn)
6g.123218703C>ACA452054441TRDNc.2088G>T (p.Gly696=)
c.2007G>T (p.Gly669=)
gnomAD v4
6g.123218703C>GCA452054440TRDNc.2088G>C (p.Gly696=)
c.2007G>C (p.Gly669=)
6g.123218703C>TCA452054442TRDNc.2088G>A (p.Gly696=)
c.2007G>A (p.Gly669=)
6g.123218704C>ACA365564659TRDNc.2087G>T (p.Gly696Val)
c.2006G>T (p.Gly669Val)
COSMIC
6g.123218704C=CA1660320166TRDNc.2087G= (p.Gly696=)
c.2006G= (p.Gly669=)
6g.123218704C>GCA365564658TRDNc.2087G>C (p.Gly696Ala)
c.2006G>C (p.Gly669Ala)
6g.123218704C>TCA3983600TRDNc.2087G>A (p.Gly696Glu)
c.2006G>A (p.Gly669Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218705C>ACA365564660TRDNc.2086G>T (p.Gly696Trp)
c.2005G>T (p.Gly669Trp)
gnomAD v4
6g.123218705C>GCA365564661TRDNc.2086G>C (p.Gly696Arg)
c.2005G>C (p.Gly669Arg)
6g.123218705C>TCA365564662TRDNc.2086G>A (p.Gly696Arg)
c.2005G>A (p.Gly669Arg)
6g.123218706A>CCA365564663TRDNc.2085T>G (p.Asp695Glu)
c.2004T>G (p.Asp668Glu)
6g.123218706A>GCA452054446TRDNc.2085T>C (p.Asp695=)
c.2004T>C (p.Asp668=)
6g.123218706A>TCA365564664TRDNc.2085T>A (p.Asp695Glu)
c.2004T>A (p.Asp668Glu)
6g.123218707T>ACA3983601TRDNc.2084A>T (p.Asp695Val)
c.2003A>T (p.Asp668Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.123218707T>CCA365564665TRDNc.2084A>G (p.Asp695Gly)
c.2003A>G (p.Asp668Gly)
6g.123218707T>GCA365564666TRDNc.2084A>C (p.Asp695Ala)
c.2003A>C (p.Asp668Ala)
6g.123218707T=CA1660320167TRDNc.2084A= (p.Asp695=)
c.2003A= (p.Asp668=)

Number of alleles fetched