Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132886318G>ACA360969089AFF4c.3091C>T (p.His1031Tyr)
c.1957C>T (p.His653Tyr)
c.3004C>T (p.His1002Tyr)
5g.132886318G>CCA360969091AFF4c.3091C>G (p.His1031Asp)
c.1957C>G (p.His653Asp)
c.3004C>G (p.His1002Asp)
5g.132886318G>TCA360969093AFF4c.3091C>A (p.His1031Asn)
c.1957C>A (p.His653Asn)
c.3004C>A (p.His1002Asn)
5g.132886318_132886321dupCA2675251696AFF4c.3088_3091dup (p.His1031ArgfsTer8)
c.1954_1957dup (p.His653ArgfsTer8)
c.3001_3004dup (p.His1002ArgfsTer8)
gnomAD v4
5g.132886319C>ACA360969095AFF4c.3090G>T (p.Glu1030Asp)
c.1956G>T (p.Glu652Asp)
c.3003G>T (p.Glu1001Asp)
5g.132886319C>GCA360969097AFF4c.3090G>C (p.Glu1030Asp)
c.1956G>C (p.Glu652Asp)
c.3003G>C (p.Glu1001Asp)
gnomAD v4
5g.132886319C>TCA446377144AFF4c.3090G>A (p.Glu1030=)
c.1956G>A (p.Glu652=)
c.3003G>A (p.Glu1001=)
gnomAD v4
5g.132886320T>ACA360969100AFF4c.3089A>T (p.Glu1030Val)
c.1955A>T (p.Glu652Val)
c.3002A>T (p.Glu1001Val)
5g.132886320T>CCA360969101AFF4c.3089A>G (p.Glu1030Gly)
c.1955A>G (p.Glu652Gly)
c.3002A>G (p.Glu1001Gly)
5g.132886320T>GCA360969103AFF4c.3089A>C (p.Glu1030Ala)
c.1955A>C (p.Glu652Ala)
c.3002A>C (p.Glu1001Ala)
5g.132886321C>ACA360969109AFF4c.3088G>T (p.Glu1030Ter)
c.1954G>T (p.Glu652Ter)
c.3001G>T (p.Glu1001Ter)
5g.132886321C>GCA360969105AFF4c.3088G>C (p.Glu1030Gln)
c.1954G>C (p.Glu652Gln)
c.3001G>C (p.Glu1001Gln)
5g.132886321C>TCA360969107AFF4c.3088G>A (p.Glu1030Lys)
c.1954G>A (p.Glu652Lys)
c.3001G>A (p.Glu1001Lys)
5g.132886322T>ACA446377146AFF4c.3087A>T (p.Thr1029=)
c.1953A>T (p.Thr651=)
c.3000A>T (p.Thr1000=)
5g.132886322T>CCA446377145AFF4c.3087A>G (p.Thr1029=)
c.1953A>G (p.Thr651=)
c.3000A>G (p.Thr1000=)
5g.132886322T>GCA3408751AFF4c.3087A>C (p.Thr1029=)
c.1953A>C (p.Thr651=)
c.3000A>C (p.Thr1000=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132886322T=CA1583368861AFF4c.3087A= (p.Thr1029=)
c.1953A= (p.Thr651=)
c.3000A= (p.Thr1000=)
5g.132886323G>ACA360969113AFF4c.3086C>T (p.Thr1029Ile)
c.1952C>T (p.Thr651Ile)
c.2999C>T (p.Thr1000Ile)
5g.132886323G>CCA360969115AFF4c.3086C>G (p.Thr1029Arg)
c.1952C>G (p.Thr651Arg)
c.2999C>G (p.Thr1000Arg)
5g.132886323G>TCA360969117AFF4c.3086C>A (p.Thr1029Lys)
c.1952C>A (p.Thr651Lys)
c.2999C>A (p.Thr1000Lys)
5g.132886324T>ACA360969119AFF4c.3085A>T (p.Thr1029Ser)
c.1951A>T (p.Thr651Ser)
c.2998A>T (p.Thr1000Ser)
5g.132886324T>CCA360969121AFF4c.3085A>G (p.Thr1029Ala)
c.1951A>G (p.Thr651Ala)
c.2998A>G (p.Thr1000Ala)
gnomAD v4
5g.132886324T>GCA360969123AFF4c.3085A>C (p.Thr1029Pro)
c.1951A>C (p.Thr651Pro)
c.2998A>C (p.Thr1000Pro)
5g.132886325C>ACA446377152AFF4c.3084G>T (p.Leu1028=)
c.1950G>T (p.Leu650=)
c.2997G>T (p.Leu999=)
5g.132886325C=CA1583368863AFF4c.3084G= (p.Leu1028=)
c.1950G= (p.Leu650=)
c.2997G= (p.Leu999=)
5g.132886325C>GCA446377155AFF4c.3084G>C (p.Leu1028=)
c.1950G>C (p.Leu650=)
c.2997G>C (p.Leu999=)
5g.132886325C>TCA3408752AFF4c.3084G>A (p.Leu1028=)
c.1950G>A (p.Leu650=)
c.2997G>A (p.Leu999=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886326A>CCA360969126AFF4c.3083T>G (p.Leu1028Arg)
c.1949T>G (p.Leu650Arg)
c.2996T>G (p.Leu999Arg)
5g.132886326A>GCA360969128AFF4c.3083T>C (p.Leu1028Pro)
c.1949T>C (p.Leu650Pro)
c.2996T>C (p.Leu999Pro)
5g.132886326A>TCA360969130AFF4c.3083T>A (p.Leu1028Gln)
c.1949T>A (p.Leu650Gln)
c.2996T>A (p.Leu999Gln)
5g.132886327G>ACA446377159AFF4c.3082C>T (p.Leu1028=)
c.1948C>T (p.Leu650=)
c.2995C>T (p.Leu999=)
5g.132886327G>CCA360969132AFF4c.3082C>G (p.Leu1028Val)
c.1948C>G (p.Leu650Val)
c.2995C>G (p.Leu999Val)
5g.132886327G>TCA360969134AFF4c.3082C>A (p.Leu1028Met)
c.1948C>A (p.Leu650Met)
c.2995C>A (p.Leu999Met)
5g.132886328T>ACA446377163AFF4c.3081A>T (p.Thr1027=)
c.1947A>T (p.Thr649=)
c.2994A>T (p.Thr998=)
5g.132886328T>CCA3408753AFF4c.3081A>G (p.Thr1027=)
c.1947A>G (p.Thr649=)
c.2994A>G (p.Thr998=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132886328T>GCA446377166AFF4c.3081A>C (p.Thr1027=)
c.1947A>C (p.Thr649=)
c.2994A>C (p.Thr998=)
5g.132886328T=CA1583368867AFF4c.3081A= (p.Thr1027=)
c.1947A= (p.Thr649=)
c.2994A= (p.Thr998=)
5g.132886329G>ACA360969138AFF4c.3080C>T (p.Thr1027Ile)
c.1946C>T (p.Thr649Ile)
c.2993C>T (p.Thr998Ile)
5g.132886329G>CCA360969139AFF4c.3080C>G (p.Thr1027Arg)
c.1946C>G (p.Thr649Arg)
c.2993C>G (p.Thr998Arg)
5g.132886329G>TCA360969141AFF4c.3080C>A (p.Thr1027Lys)
c.1946C>A (p.Thr649Lys)
c.2993C>A (p.Thr998Lys)
5g.132886330T>ACA360969144AFF4c.3079A>T (p.Thr1027Ser)
c.1945A>T (p.Thr649Ser)
c.2992A>T (p.Thr998Ser)
5g.132886330T>CCA360969145AFF4c.3079A>G (p.Thr1027Ala)
c.1945A>G (p.Thr649Ala)
c.2992A>G (p.Thr998Ala)
gnomAD v4
5g.132886330T>GCA360969146AFF4c.3079A>C (p.Thr1027Pro)
c.1945A>C (p.Thr649Pro)
c.2992A>C (p.Thr998Pro)
5g.132886331C>ACA360969149AFF4c.3078G>T (p.Lys1026Asn)
c.1944G>T (p.Lys648Asn)
c.2991G>T (p.Lys997Asn)
5g.132886331C>GCA360969151AFF4c.3078G>C (p.Lys1026Asn)
c.1944G>C (p.Lys648Asn)
c.2991G>C (p.Lys997Asn)
5g.132886331C>TCA446377176AFF4c.3078G>A (p.Lys1026=)
c.1944G>A (p.Lys648=)
c.2991G>A (p.Lys997=)
5g.132886332T>ACA360969153AFF4c.3077A>T (p.Lys1026Met)
c.1943A>T (p.Lys648Met)
c.2990A>T (p.Lys997Met)
5g.132886332T>CCA360969155AFF4c.3077A>G (p.Lys1026Arg)
c.1943A>G (p.Lys648Arg)
c.2990A>G (p.Lys997Arg)
5g.132886332T>GCA360969157AFF4c.3077A>C (p.Lys1026Thr)
c.1943A>C (p.Lys648Thr)
c.2990A>C (p.Lys997Thr)
5g.132886333T>ACA360969164AFF4c.3076A>T (p.Lys1026Ter)
c.1942A>T (p.Lys648Ter)
c.2989A>T (p.Lys997Ter)
5g.132886333T>CCA360969159AFF4c.3076A>G (p.Lys1026Glu)
c.1942A>G (p.Lys648Glu)
c.2989A>G (p.Lys997Glu)
5g.132886333T>GCA360969162AFF4c.3076A>C (p.Lys1026Gln)
c.1942A>C (p.Lys648Gln)
c.2989A>C (p.Lys997Gln)
5g.132886334T>ACA446377184AFF4c.3075A>T (p.Ser1025=)
c.1941A>T (p.Ser647=)
c.2988A>T (p.Ser996=)
5g.132886334T>CCA446377186AFF4c.3075A>G (p.Ser1025=)
c.1941A>G (p.Ser647=)
c.2988A>G (p.Ser996=)
5g.132886334T>GCA446377188AFF4c.3075A>C (p.Ser1025=)
c.1941A>C (p.Ser647=)
c.2988A>C (p.Ser996=)
5g.132886335G>ACA360969166AFF4c.3074C>T (p.Ser1025Leu)
c.1940C>T (p.Ser647Leu)
c.2987C>T (p.Ser996Leu)
gnomAD v4
5g.132886335G>CCA360969168AFF4c.3074C>G (p.Ser1025Ter)
c.1940C>G (p.Ser647Ter)
c.2987C>G (p.Ser996Ter)
5g.132886335G>TCA360969169AFF4c.3074C>A (p.Ser1025Ter)
c.1940C>A (p.Ser647Ter)
c.2987C>A (p.Ser996Ter)
5g.132886336A>CCA360969171AFF4c.3073T>G (p.Ser1025Ala)
c.1939T>G (p.Ser647Ala)
c.2986T>G (p.Ser996Ala)
5g.132886336A>GCA360969173AFF4c.3073T>C (p.Ser1025Pro)
c.1939T>C (p.Ser647Pro)
c.2986T>C (p.Ser996Pro)
5g.132886336A>TCA360969175AFF4c.3073T>A (p.Ser1025Thr)
c.1939T>A (p.Ser647Thr)
c.2986T>A (p.Ser996Thr)
5g.132886337G>ACA446377198AFF4c.3072C>T (p.Tyr1024=)
c.1938C>T (p.Tyr646=)
c.2985C>T (p.Tyr995=)
5g.132886337G>CCA360969176AFF4c.3072C>G (p.Tyr1024Ter)
c.1938C>G (p.Tyr646Ter)
c.2985C>G (p.Tyr995Ter)
5g.132886337G>TCA360969177AFF4c.3072C>A (p.Tyr1024Ter)
c.1938C>A (p.Tyr646Ter)
c.2985C>A (p.Tyr995Ter)
5g.132886338T>ACA360969180AFF4c.3071A>T (p.Tyr1024Phe)
c.1937A>T (p.Tyr646Phe)
c.2984A>T (p.Tyr995Phe)
5g.132886338T>CCA360969181AFF4c.3071A>G (p.Tyr1024Cys)
c.1937A>G (p.Tyr646Cys)
c.2984A>G (p.Tyr995Cys)
5g.132886338T>GCA360969183AFF4c.3071A>C (p.Tyr1024Ser)
c.1937A>C (p.Tyr646Ser)
c.2984A>C (p.Tyr995Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132886338T=CA1583368869AFF4c.3071A= (p.Tyr1024=)
c.1937A= (p.Tyr646=)
c.2984A= (p.Tyr995=)
5g.132886339A>CCA360969187AFF4c.3070T>G (p.Tyr1024Asp)
c.1936T>G (p.Tyr646Asp)
c.2983T>G (p.Tyr995Asp)
5g.132886339A>GCA360969189AFF4c.3070T>C (p.Tyr1024His)
c.1936T>C (p.Tyr646His)
c.2983T>C (p.Tyr995His)
5g.132886339A>TCA360969185AFF4c.3070T>A (p.Tyr1024Asn)
c.1936T>A (p.Tyr646Asn)
c.2983T>A (p.Tyr995Asn)
5g.132886340C>ACA360969191AFF4c.3069G>T (p.Lys1023Asn)
c.1935G>T (p.Lys645Asn)
c.2982G>T (p.Lys994Asn)
COSMIC
5g.132886340C>GCA360969190AFF4c.3069G>C (p.Lys1023Asn)
c.1935G>C (p.Lys645Asn)
c.2982G>C (p.Lys994Asn)
5g.132886340C>TCA446377207AFF4c.3069G>A (p.Lys1023=)
c.1935G>A (p.Lys645=)
c.2982G>A (p.Lys994=)
gnomAD v4 COSMIC
5g.132886341T>ACA360969193AFF4c.3068A>T (p.Lys1023Met)
c.1934A>T (p.Lys645Met)
c.2981A>T (p.Lys994Met)
5g.132886341T>CCA360969195AFF4c.3068A>G (p.Lys1023Arg)
c.1934A>G (p.Lys645Arg)
c.2981A>G (p.Lys994Arg)
5g.132886341T>GCA360969198AFF4c.3068A>C (p.Lys1023Thr)
c.1934A>C (p.Lys645Thr)
c.2981A>C (p.Lys994Thr)
dbSNP
5g.132886341T=CA1583368873AFF4c.3068A= (p.Lys1023=)
c.1934A= (p.Lys645=)
c.2981A= (p.Lys994=)
5g.132886342T>ACA360969201AFF4c.3067A>T (p.Lys1023Ter)
c.1933A>T (p.Lys645Ter)
c.2980A>T (p.Lys994Ter)
5g.132886342T>CCA360969202AFF4c.3067A>G (p.Lys1023Glu)
c.1933A>G (p.Lys645Glu)
c.2980A>G (p.Lys994Glu)
5g.132886342T>GCA360969204AFF4c.3067A>C (p.Lys1023Gln)
c.1933A>C (p.Lys645Gln)
c.2980A>C (p.Lys994Gln)
5g.132886343C>ACA446377215AFF4c.3066G>T (p.Leu1022=)
c.1932G>T (p.Leu644=)
c.2979G>T (p.Leu993=)
5g.132886343C>GCA446377217AFF4c.3066G>C (p.Leu1022=)
c.1932G>C (p.Leu644=)
c.2979G>C (p.Leu993=)
gnomAD v4
5g.132886343C>TCA446377216AFF4c.3066G>A (p.Leu1022=)
c.1932G>A (p.Leu644=)
c.2979G>A (p.Leu993=)
gnomAD v4
5g.132886344A>CCA360969206AFF4c.3065T>G (p.Leu1022Arg)
c.1931T>G (p.Leu644Arg)
c.2978T>G (p.Leu993Arg)
5g.132886344A>GCA360969207AFF4c.3065T>C (p.Leu1022Pro)
c.1931T>C (p.Leu644Pro)
c.2978T>C (p.Leu993Pro)
5g.132886344A>TCA360969209AFF4c.3065T>A (p.Leu1022Gln)
c.1931T>A (p.Leu644Gln)
c.2978T>A (p.Leu993Gln)
5g.132886345G>ACA3408754AFF4c.3064C>T (p.Leu1022=)
c.1930C>T (p.Leu644=)
c.2977C>T (p.Leu993=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886345G>CCA360969212AFF4c.3064C>G (p.Leu1022Val)
c.1930C>G (p.Leu644Val)
c.2977C>G (p.Leu993Val)
5g.132886345G=CA1583368876AFF4c.3064C= (p.Leu1022=)
c.1930C= (p.Leu644=)
c.2977C= (p.Leu993=)
5g.132886345G>TCA360969214AFF4c.3064C>A (p.Leu1022Met)
c.1930C>A (p.Leu644Met)
c.2977C>A (p.Leu993Met)
5g.132886346A=CA1583368879AFF4c.3063T= (p.Ala1021=)
c.1929T= (p.Ala643=)
c.2976T= (p.Ala992=)
5g.132886346A>CCA446377228AFF4c.3063T>G (p.Ala1021=)
c.1929T>G (p.Ala643=)
c.2976T>G (p.Ala992=)
5g.132886346A>GCA446377232AFF4c.3063T>C (p.Ala1021=)
c.1929T>C (p.Ala643=)
c.2976T>C (p.Ala992=)
dbSNP gnomAD v4
5g.132886346A>TCA446377230AFF4c.3063T>A (p.Ala1021=)
c.1929T>A (p.Ala643=)
c.2976T>A (p.Ala992=)
5g.132886347G>ACA360969216AFF4c.3062C>T (p.Ala1021Val)
c.1928C>T (p.Ala643Val)
c.2975C>T (p.Ala992Val)
5g.132886347G>CCA360969219AFF4c.3062C>G (p.Ala1021Gly)
c.1928C>G (p.Ala643Gly)
c.2975C>G (p.Ala992Gly)
5g.132886347G>TCA360969218AFF4c.3062C>A (p.Ala1021Asp)
c.1928C>A (p.Ala643Asp)
c.2975C>A (p.Ala992Asp)
5g.132886348C>ACA360969222AFF4c.3061G>T (p.Ala1021Ser)
c.1927G>T (p.Ala643Ser)
c.2974G>T (p.Ala992Ser)
5g.132886348C>GCA360969224AFF4c.3061G>C (p.Ala1021Pro)
c.1927G>C (p.Ala643Pro)
c.2974G>C (p.Ala992Pro)
5g.132886348C>TCA360969228AFF4c.3061G>A (p.Ala1021Thr)
c.1927G>A (p.Ala643Thr)
c.2974G>A (p.Ala992Thr)
5g.132886349A>CCA360969231AFF4c.3060T>G (p.Asn1020Lys)
c.1926T>G (p.Asn642Lys)
c.2973T>G (p.Asn991Lys)
5g.132886349A>GCA446377239AFF4c.3060T>C (p.Asn1020=)
c.1926T>C (p.Asn642=)
c.2973T>C (p.Asn991=)
5g.132886349A>TCA360969232AFF4c.3060T>A (p.Asn1020Lys)
c.1926T>A (p.Asn642Lys)
c.2973T>A (p.Asn991Lys)
5g.132886350T>ACA360969234AFF4c.3059A>T (p.Asn1020Ile)
c.1925A>T (p.Asn642Ile)
c.2972A>T (p.Asn991Ile)
5g.132886350T>CCA360969235AFF4c.3059A>G (p.Asn1020Ser)
c.1925A>G (p.Asn642Ser)
c.2972A>G (p.Asn991Ser)
5g.132886350T>GCA360969237AFF4c.3059A>C (p.Asn1020Thr)
c.1925A>C (p.Asn642Thr)
c.2972A>C (p.Asn991Thr)
5g.132886351T>ACA360969239AFF4c.3058A>T (p.Asn1020Tyr)
c.1924A>T (p.Asn642Tyr)
c.2971A>T (p.Asn991Tyr)
5g.132886351T>CCA360969240AFF4c.3058A>G (p.Asn1020Asp)
c.1924A>G (p.Asn642Asp)
c.2971A>G (p.Asn991Asp)
5g.132886351T>GCA360969241AFF4c.3058A>C (p.Asn1020His)
c.1924A>C (p.Asn642His)
c.2971A>C (p.Asn991His)
5g.132886352T>ACA360969243AFF4c.3057A>T (p.Glu1019Asp)
c.1923A>T (p.Glu641Asp)
c.2970A>T (p.Glu990Asp)
5g.132886352T>CCA446377250AFF4c.3057A>G (p.Glu1019=)
c.1923A>G (p.Glu641=)
c.2970A>G (p.Glu990=)
gnomAD v4
5g.132886352T>GCA360969242AFF4c.3057A>C (p.Glu1019Asp)
c.1923A>C (p.Glu641Asp)
c.2970A>C (p.Glu990Asp)
5g.132886353T>ACA360969246AFF4c.3056A>T (p.Glu1019Val)
c.1922A>T (p.Glu641Val)
c.2969A>T (p.Glu990Val)
5g.132886353T>CCA360969249AFF4c.3056A>G (p.Glu1019Gly)
c.1922A>G (p.Glu641Gly)
c.2969A>G (p.Glu990Gly)
5g.132886353T>GCA360969248AFF4c.3056A>C (p.Glu1019Ala)
c.1922A>C (p.Glu641Ala)
c.2969A>C (p.Glu990Ala)
5g.132886354C>ACA360969252AFF4c.3055G>T (p.Glu1019Ter)
c.1921G>T (p.Glu641Ter)
c.2968G>T (p.Glu990Ter)
5g.132886354C>GCA360969254AFF4c.3055G>C (p.Glu1019Gln)
c.1921G>C (p.Glu641Gln)
c.2968G>C (p.Glu990Gln)
5g.132886354C>TCA360969255AFF4c.3055G>A (p.Glu1019Lys)
c.1921G>A (p.Glu641Lys)
c.2968G>A (p.Glu990Lys)
5g.132886355C>ACA360969257AFF4c.3054G>T (p.Lys1018Asn)
c.1920G>T (p.Lys640Asn)
c.2967G>T (p.Lys989Asn)
5g.132886355C=CA1583368883AFF4c.3054G= (p.Lys1018=)
c.1920G= (p.Lys640=)
c.2967G= (p.Lys989=)
5g.132886355C>GCA360969259AFF4c.3054G>C (p.Lys1018Asn)
c.1920G>C (p.Lys640Asn)
c.2967G>C (p.Lys989Asn)
5g.132886355C>TCA3408755AFF4c.3054G>A (p.Lys1018=)
c.1920G>A (p.Lys640=)
c.2967G>A (p.Lys989=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132886356T>ACA360969262AFF4c.3053A>T (p.Lys1018Met)
c.1919A>T (p.Lys640Met)
c.2966A>T (p.Lys989Met)
5g.132886356T>CCA360969264AFF4c.3053A>G (p.Lys1018Arg)
c.1919A>G (p.Lys640Arg)
c.2966A>G (p.Lys989Arg)
5g.132886356T>GCA360969265AFF4c.3053A>C (p.Lys1018Thr)
c.1919A>C (p.Lys640Thr)
c.2966A>C (p.Lys989Thr)
5g.132886357T>ACA360969267AFF4c.3052A>T (p.Lys1018Ter)
c.1918A>T (p.Lys640Ter)
c.2965A>T (p.Lys989Ter)
5g.132886357T>CCA360969268AFF4c.3052A>G (p.Lys1018Glu)
c.1918A>G (p.Lys640Glu)
c.2965A>G (p.Lys989Glu)
5g.132886357T>GCA360969269AFF4c.3052A>C (p.Lys1018Gln)
c.1918A>C (p.Lys640Gln)
c.2965A>C (p.Lys989Gln)
5g.132886358C>ACA360969271AFF4c.3051G>T (p.Lys1017Asn)
c.1917G>T (p.Lys639Asn)
c.2964G>T (p.Lys988Asn)
5g.132886358C>GCA360969273AFF4c.3051G>C (p.Lys1017Asn)
c.1917G>C (p.Lys639Asn)
c.2964G>C (p.Lys988Asn)
5g.132886358C>TCA446377271AFF4c.3051G>A (p.Lys1017=)
c.1917G>A (p.Lys639=)
c.2964G>A (p.Lys988=)
5g.132886359T>ACA360969276AFF4c.3050A>T (p.Lys1017Met)
c.1916A>T (p.Lys639Met)
c.2963A>T (p.Lys988Met)
5g.132886359T>CCA360969278AFF4c.3050A>G (p.Lys1017Arg)
c.1916A>G (p.Lys639Arg)
c.2963A>G (p.Lys988Arg)
5g.132886359T>GCA360969280AFF4c.3050A>C (p.Lys1017Thr)
c.1916A>C (p.Lys639Thr)
c.2963A>C (p.Lys988Thr)
5g.132886360T>ACA360969282AFF4c.3049A>T (p.Lys1017Ter)
c.1915A>T (p.Lys639Ter)
c.2962A>T (p.Lys988Ter)
5g.132886360T>CCA360969284AFF4c.3049A>G (p.Lys1017Glu)
c.1915A>G (p.Lys639Glu)
c.2962A>G (p.Lys988Glu)
5g.132886360T>GCA360969285AFF4c.3049A>C (p.Lys1017Gln)
c.1915A>C (p.Lys639Gln)
c.2962A>C (p.Lys988Gln)
5g.132886361C>ACA446377280AFF4c.3048G>T (p.Leu1016=)
c.1914G>T (p.Leu638=)
c.2961G>T (p.Leu987=)
5g.132886361C>GCA446377282AFF4c.3048G>C (p.Leu1016=)
c.1914G>C (p.Leu638=)
c.2961G>C (p.Leu987=)
5g.132886361C>TCA446377284AFF4c.3048G>A (p.Leu1016=)
c.1914G>A (p.Leu638=)
c.2961G>A (p.Leu987=)
5g.132886362A>CCA360969287AFF4c.3047T>G (p.Leu1016Arg)
c.1913T>G (p.Leu638Arg)
c.2960T>G (p.Leu987Arg)
5g.132886362A>GCA360969289AFF4c.3047T>C (p.Leu1016Pro)
c.1913T>C (p.Leu638Pro)
c.2960T>C (p.Leu987Pro)
5g.132886362A>TCA360969291AFF4c.3047T>A (p.Leu1016Gln)
c.1913T>A (p.Leu638Gln)
c.2960T>A (p.Leu987Gln)
5g.132886363G>ACA446377290AFF4c.3046C>T (p.Leu1016=)
c.1912C>T (p.Leu638=)
c.2959C>T (p.Leu987=)
5g.132886363G>CCA360969293AFF4c.3046C>G (p.Leu1016Val)
c.1912C>G (p.Leu638Val)
c.2959C>G (p.Leu987Val)
5g.132886363G>TCA360969295AFF4c.3046C>A (p.Leu1016Met)
c.1912C>A (p.Leu638Met)
c.2959C>A (p.Leu987Met)
5g.132886364T>ACA360969297AFF4c.3045A>T (p.Lys1015Asn)
c.1911A>T (p.Lys637Asn)
c.2958A>T (p.Lys986Asn)
5g.132886364T>CCA446377295AFF4c.3045A>G (p.Lys1015=)
c.1911A>G (p.Lys637=)
c.2958A>G (p.Lys986=)
5g.132886364T>GCA360969298AFF4c.3045A>C (p.Lys1015Asn)
c.1911A>C (p.Lys637Asn)
c.2958A>C (p.Lys986Asn)
5g.132886365T>ACA360969303AFF4c.3044A>T (p.Lys1015Ile)
c.1910A>T (p.Lys637Ile)
c.2957A>T (p.Lys986Ile)
5g.132886365T>CCA3408756AFF4c.3044A>G (p.Lys1015Arg)
c.1910A>G (p.Lys637Arg)
c.2957A>G (p.Lys986Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132886365T>GCA360969302AFF4c.3044A>C (p.Lys1015Thr)
c.1910A>C (p.Lys637Thr)
c.2957A>C (p.Lys986Thr)
5g.132886365T=CA1583368887AFF4c.3044A= (p.Lys1015=)
c.1910A= (p.Lys637=)
c.2957A= (p.Lys986=)
5g.132886366T>ACA360969309AFF4c.3043A>T (p.Lys1015Ter)
c.1909A>T (p.Lys637Ter)
c.2956A>T (p.Lys986Ter)
5g.132886366T>CCA360969307AFF4c.3043A>G (p.Lys1015Glu)
c.1909A>G (p.Lys637Glu)
c.2956A>G (p.Lys986Glu)
gnomAD v4
5g.132886366T>GCA360969310AFF4c.3043A>C (p.Lys1015Gln)
c.1909A>C (p.Lys637Gln)
c.2956A>C (p.Lys986Gln)
5g.132886367G>ACA446377306AFF4c.3042C>T (p.Phe1014=)
c.1908C>T (p.Phe636=)
c.2955C>T (p.Phe985=)
5g.132886367G>CCA360969311AFF4c.3042C>G (p.Phe1014Leu)
c.1908C>G (p.Phe636Leu)
c.2955C>G (p.Phe985Leu)
COSMIC
5g.132886367G>TCA360969314AFF4c.3042C>A (p.Phe1014Leu)
c.1908C>A (p.Phe636Leu)
c.2955C>A (p.Phe985Leu)
5g.132886368A>CCA360969315AFF4c.3041T>G (p.Phe1014Cys)
c.1907T>G (p.Phe636Cys)
c.2954T>G (p.Phe985Cys)
5g.132886368A>GCA360969317AFF4c.3041T>C (p.Phe1014Ser)
c.1907T>C (p.Phe636Ser)
c.2954T>C (p.Phe985Ser)
5g.132886368A>TCA360969319AFF4c.3041T>A (p.Phe1014Tyr)
c.1907T>A (p.Phe636Tyr)
c.2954T>A (p.Phe985Tyr)
5g.132886369A>CCA360969321AFF4c.3040T>G (p.Phe1014Val)
c.1906T>G (p.Phe636Val)
c.2953T>G (p.Phe985Val)
5g.132886369A>GCA360969323AFF4c.3040T>C (p.Phe1014Leu)
c.1906T>C (p.Phe636Leu)
c.2953T>C (p.Phe985Leu)
5g.132886369A>TCA360969325AFF4c.3040T>A (p.Phe1014Ile)
c.1906T>A (p.Phe636Ile)
c.2953T>A (p.Phe985Ile)
5g.132886370C>ACA446377319AFF4c.3039G>T (p.Leu1013=)
c.1905G>T (p.Leu635=)
c.2952G>T (p.Leu984=)
5g.132886370C>GCA446377321AFF4c.3039G>C (p.Leu1013=)
c.1905G>C (p.Leu635=)
c.2952G>C (p.Leu984=)
5g.132886370C>TCA446377323AFF4c.3039G>A (p.Leu1013=)
c.1905G>A (p.Leu635=)
c.2952G>A (p.Leu984=)
5g.132886371A>CCA360969326AFF4c.3038T>G (p.Leu1013Arg)
c.1904T>G (p.Leu635Arg)
c.2951T>G (p.Leu984Arg)
5g.132886371A>GCA360969328AFF4c.3038T>C (p.Leu1013Pro)
c.1904T>C (p.Leu635Pro)
c.2951T>C (p.Leu984Pro)
5g.132886371A>TCA360969330AFF4c.3038T>A (p.Leu1013Gln)
c.1904T>A (p.Leu635Gln)
c.2951T>A (p.Leu984Gln)
5g.132886372G>ACA446377329AFF4c.3037C>T (p.Leu1013=)
c.1903C>T (p.Leu635=)
c.2950C>T (p.Leu984=)
COSMIC
5g.132886372G>CCA360969332AFF4c.3037C>G (p.Leu1013Val)
c.1903C>G (p.Leu635Val)
c.2950C>G (p.Leu984Val)
5g.132886372G>TCA360969334AFF4c.3037C>A (p.Leu1013Met)
c.1903C>A (p.Leu635Met)
c.2950C>A (p.Leu984Met)
5g.132886373C>ACA360969336AFF4c.3036G>T (p.Arg1012Ser)
c.1902G>T (p.Arg634Ser)
c.2949G>T (p.Arg983Ser)
dbSNP
5g.132886373C=CA1583368890AFF4c.3036G= (p.Arg1012=)
c.1902G= (p.Arg634=)
c.2949G= (p.Arg983=)
5g.132886373C>GCA360969337AFF4c.3036G>C (p.Arg1012Ser)
c.1902G>C (p.Arg634Ser)
c.2949G>C (p.Arg983Ser)
5g.132886373C>TCA446377335AFF4c.3036G>A (p.Arg1012=)
c.1902G>A (p.Arg634=)
c.2949G>A (p.Arg983=)
5g.132886374C>ACA360969341AFF4c.3035G>T (p.Arg1012Met)
c.1901G>T (p.Arg634Met)
c.2948G>T (p.Arg983Met)
5g.132886374C>GCA360969343AFF4c.3035G>C (p.Arg1012Thr)
c.1901G>C (p.Arg634Thr)
c.2948G>C (p.Arg983Thr)
5g.132886374C>TCA360969345AFF4c.3035G>A (p.Arg1012Lys)
c.1901G>A (p.Arg634Lys)
c.2948G>A (p.Arg983Lys)
dbSNP
5g.132886375T>ACA360969347AFF4c.3034A>T (p.Arg1012Trp)
c.1900A>T (p.Arg634Trp)
c.2947A>T (p.Arg983Trp)
5g.132886375T>CCA360969349AFF4c.3034A>G (p.Arg1012Gly)
c.1900A>G (p.Arg634Gly)
c.2947A>G (p.Arg983Gly)
5g.132886375T>GCA446377341AFF4c.3034A>C (p.Arg1012=)
c.1900A>C (p.Arg634=)
c.2947A>C (p.Arg983=)
5g.132886376C>ACA446377344AFF4c.3033G>T (p.Leu1011=)
c.1899G>T (p.Leu633=)
c.2946G>T (p.Leu982=)
5g.132886376C>GCA446377347AFF4c.3033G>C (p.Leu1011=)
c.1899G>C (p.Leu633=)
c.2946G>C (p.Leu982=)
5g.132886376C>TCA446377345AFF4c.3033G>A (p.Leu1011=)
c.1899G>A (p.Leu633=)
c.2946G>A (p.Leu982=)
5g.132886377A>CCA360969351AFF4c.3032T>G (p.Leu1011Arg)
c.1898T>G (p.Leu633Arg)
c.2945T>G (p.Leu982Arg)
5g.132886377A>GCA360969352AFF4c.3032T>C (p.Leu1011Pro)
c.1898T>C (p.Leu633Pro)
c.2945T>C (p.Leu982Pro)
5g.132886377A>TCA360969354AFF4c.3032T>A (p.Leu1011Gln)
c.1898T>A (p.Leu633Gln)
c.2945T>A (p.Leu982Gln)
5g.132886378G>ACA446377353AFF4c.3031C>T (p.Leu1011=)
c.1897C>T (p.Leu633=)
c.2944C>T (p.Leu982=)
5g.132886378G>CCA360969357AFF4c.3031C>G (p.Leu1011Val)
c.1897C>G (p.Leu633Val)
c.2944C>G (p.Leu982Val)
5g.132886378G>TCA360969359AFF4c.3031C>A (p.Leu1011Met)
c.1897C>A (p.Leu633Met)
c.2944C>A (p.Leu982Met)
5g.132886379G>ACA446377357AFF4c.3030C>T (p.Tyr1010=)
c.1896C>T (p.Tyr632=)
c.2943C>T (p.Tyr981=)
gnomAD v4
5g.132886379G>CCA360969361AFF4c.3030C>G (p.Tyr1010Ter)
c.1896C>G (p.Tyr632Ter)
c.2943C>G (p.Tyr981Ter)
5g.132886379G>TCA360969362AFF4c.3030C>A (p.Tyr1010Ter)
c.1896C>A (p.Tyr632Ter)
c.2943C>A (p.Tyr981Ter)
5g.132886380T>ACA360969364AFF4c.3029A>T (p.Tyr1010Phe)
c.1895A>T (p.Tyr632Phe)
c.2942A>T (p.Tyr981Phe)
5g.132886380T>CCA360969369AFF4c.3029A>G (p.Tyr1010Cys)
c.1895A>G (p.Tyr632Cys)
c.2942A>G (p.Tyr981Cys)
5g.132886380T>GCA360969366AFF4c.3029A>C (p.Tyr1010Ser)
c.1895A>C (p.Tyr632Ser)
c.2942A>C (p.Tyr981Ser)
5g.132886381A>CCA360969371AFF4c.3028T>G (p.Tyr1010Asp)
c.1894T>G (p.Tyr632Asp)
c.2941T>G (p.Tyr981Asp)
5g.132886381A>GCA360969373AFF4c.3028T>C (p.Tyr1010His)
c.1894T>C (p.Tyr632His)
c.2941T>C (p.Tyr981His)
5g.132886381A>TCA360969375AFF4c.3028T>A (p.Tyr1010Asn)
c.1894T>A (p.Tyr632Asn)
c.2941T>A (p.Tyr981Asn)
5g.132886382C>ACA446377365AFF4c.3027G>T (p.Leu1009=)
c.1893G>T (p.Leu631=)
c.2940G>T (p.Leu980=)
5g.132886382C>GCA446377367AFF4c.3027G>C (p.Leu1009=)
c.1893G>C (p.Leu631=)
c.2940G>C (p.Leu980=)
gnomAD v4
5g.132886382C>TCA446377369AFF4c.3027G>A (p.Leu1009=)
c.1893G>A (p.Leu631=)
c.2940G>A (p.Leu980=)
gnomAD v4
5g.132886383A>CCA360969378AFF4c.3026T>G (p.Leu1009Arg)
c.1892T>G (p.Leu631Arg)
c.2939T>G (p.Leu980Arg)
5g.132886383A>GCA360969380AFF4c.3026T>C (p.Leu1009Pro)
c.1892T>C (p.Leu631Pro)
c.2939T>C (p.Leu980Pro)
5g.132886383A>TCA360969382AFF4c.3026T>A (p.Leu1009Gln)
c.1892T>A (p.Leu631Gln)
c.2939T>A (p.Leu980Gln)
5g.132886384G>ACA446377374AFF4c.3025C>T (p.Leu1009=)
c.1891C>T (p.Leu631=)
c.2938C>T (p.Leu980=)
5g.132886384G>CCA360969384AFF4c.3025C>G (p.Leu1009Val)
c.1891C>G (p.Leu631Val)
c.2938C>G (p.Leu980Val)
5g.132886384G>TCA360969386AFF4c.3025C>A (p.Leu1009Met)
c.1891C>A (p.Leu631Met)
c.2938C>A (p.Leu980Met)
5g.132886385C>ACA360969388AFF4c.3024G>T (p.Leu1008Phe)
c.1890G>T (p.Leu630Phe)
c.2937G>T (p.Leu979Phe)
5g.132886385C>GCA360969390AFF4c.3024G>C (p.Leu1008Phe)
c.1890G>C (p.Leu630Phe)
c.2937G>C (p.Leu979Phe)
5g.132886385C>TCA446377380AFF4c.3024G>A (p.Leu1008=)
c.1890G>A (p.Leu630=)
c.2937G>A (p.Leu979=)
5g.132886386A>CCA360969392AFF4c.3023T>G (p.Leu1008Trp)
c.1889T>G (p.Leu630Trp)
c.2936T>G (p.Leu979Trp)
5g.132886386A>GCA360969393AFF4c.3023T>C (p.Leu1008Ser)
c.1889T>C (p.Leu630Ser)
c.2936T>C (p.Leu979Ser)
5g.132886386A>TCA360969394AFF4c.3023T>A (p.Leu1008Ter)
c.1889T>A (p.Leu630Ter)
c.2936T>A (p.Leu979Ter)
5g.132886387A>CCA360969396AFF4c.3022T>G (p.Leu1008Val)
c.1888T>G (p.Leu630Val)
c.2935T>G (p.Leu979Val)
5g.132886387A>GCA446377386AFF4c.3022T>C (p.Leu1008=)
c.1888T>C (p.Leu630=)
c.2935T>C (p.Leu979=)
5g.132886387A>TCA360969398AFF4c.3022T>A (p.Leu1008Met)
c.1888T>A (p.Leu630Met)
c.2935T>A (p.Leu979Met)
5g.132886388A=CA1583368892AFF4c.3021T= (p.Ser1007=)
c.1887T= (p.Ser629=)
c.2934T= (p.Ser978=)
5g.132886388A>CCA446377389AFF4c.3021T>G (p.Ser1007=)
c.1887T>G (p.Ser629=)
c.2934T>G (p.Ser978=)
5g.132886388A>GCA3408757AFF4c.3021T>C (p.Ser1007=)
c.1887T>C (p.Ser629=)
c.2934T>C (p.Ser978=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132886388A>TCA446377392AFF4c.3021T>A (p.Ser1007=)
c.1887T>A (p.Ser629=)
c.2934T>A (p.Ser978=)
5g.132886389G>ACA360969403AFF4c.3020C>T (p.Ser1007Phe)
c.1886C>T (p.Ser629Phe)
c.2933C>T (p.Ser978Phe)
COSMIC
5g.132886389G>CCA360969406AFF4c.3020C>G (p.Ser1007Cys)
c.1886C>G (p.Ser629Cys)
c.2933C>G (p.Ser978Cys)
5g.132886389G>TCA360969408AFF4c.3020C>A (p.Ser1007Tyr)
c.1886C>A (p.Ser629Tyr)
c.2933C>A (p.Ser978Tyr)
5g.132886390A>CCA360969409AFF4c.3019T>G (p.Ser1007Ala)
c.1885T>G (p.Ser629Ala)
c.2932T>G (p.Ser978Ala)
5g.132886390A>GCA360969411AFF4c.3019T>C (p.Ser1007Pro)
c.1885T>C (p.Ser629Pro)
c.2932T>C (p.Ser978Pro)
5g.132886390A>TCA360969413AFF4c.3019T>A (p.Ser1007Thr)
c.1885T>A (p.Ser629Thr)
c.2932T>A (p.Ser978Thr)
5g.132886391C>ACA360969414AFF4c.3018G>T (p.Glu1006Asp)
c.1884G>T (p.Glu628Asp)
c.2931G>T (p.Glu977Asp)
5g.132886391C>GCA360969416AFF4c.3018G>C (p.Glu1006Asp)
c.1884G>C (p.Glu628Asp)
c.2931G>C (p.Glu977Asp)
5g.132886391C>TCA446377403AFF4c.3018G>A (p.Glu1006=)
c.1884G>A (p.Glu628=)
c.2931G>A (p.Glu977=)
gnomAD v4
5g.132886392T>ACA360969419AFF4c.3017A>T (p.Glu1006Val)
c.1883A>T (p.Glu628Val)
c.2930A>T (p.Glu977Val)
5g.132886392T>CCA360969420AFF4c.3017A>G (p.Glu1006Gly)
c.1883A>G (p.Glu628Gly)
c.2930A>G (p.Glu977Gly)
5g.132886392T>GCA360969422AFF4c.3017A>C (p.Glu1006Ala)
c.1883A>C (p.Glu628Ala)
c.2930A>C (p.Glu977Ala)
5g.132886393C>ACA360969425AFF4c.3016G>T (p.Glu1006Ter)
c.1882G>T (p.Glu628Ter)
c.2929G>T (p.Glu977Ter)
COSMIC
5g.132886393C=CA1583368896AFF4c.3016G= (p.Glu1006=)
c.1882G= (p.Glu628=)
c.2929G= (p.Glu977=)
5g.132886393C>GCA360969427AFF4c.3016G>C (p.Glu1006Gln)
c.1882G>C (p.Glu628Gln)
c.2929G>C (p.Glu977Gln)
5g.132886393C>TCA360969424AFF4c.3016G>A (p.Glu1006Lys)
c.1882G>A (p.Glu628Lys)
c.2929G>A (p.Glu977Lys)
dbSNP gnomAD v3 gnomAD v4
5g.132886394G>ACA3408758AFF4c.3015C>T (p.Cys1005=)
c.1881C>T (p.Cys627=)
c.2928C>T (p.Cys976=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132886394G>CCA360969430AFF4c.3015C>G (p.Cys1005Trp)
c.1881C>G (p.Cys627Trp)
c.2928C>G (p.Cys976Trp)
5g.132886394G=CA1583368900AFF4c.3015C= (p.Cys1005=)
c.1881C= (p.Cys627=)
c.2928C= (p.Cys976=)
5g.132886394G>TCA360969432AFF4c.3015C>A (p.Cys1005Ter)
c.1881C>A (p.Cys627Ter)
c.2928C>A (p.Cys976Ter)
5g.132886395C>ACA360969435AFF4c.3014G>T (p.Cys1005Phe)
c.1880G>T (p.Cys627Phe)
c.2927G>T (p.Cys976Phe)
5g.132886395C>GCA360969436AFF4c.3014G>C (p.Cys1005Ser)
c.1880G>C (p.Cys627Ser)
c.2927G>C (p.Cys976Ser)
5g.132886395C>TCA360969438AFF4c.3014G>A (p.Cys1005Tyr)
c.1880G>A (p.Cys627Tyr)
c.2927G>A (p.Cys976Tyr)
5g.132886396A=CA1583368903AFF4c.3013T= (p.Cys1005=)
c.1879T= (p.Cys627=)
c.2926T= (p.Cys976=)
5g.132886396A>CCA3408759AFF4c.3013T>G (p.Cys1005Gly)
c.1879T>G (p.Cys627Gly)
c.2926T>G (p.Cys976Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886396A>GCA360969442AFF4c.3013T>C (p.Cys1005Arg)
c.1879T>C (p.Cys627Arg)
c.2926T>C (p.Cys976Arg)
5g.132886396A>TCA360969440AFF4c.3013T>A (p.Cys1005Ser)
c.1879T>A (p.Cys627Ser)
c.2926T>A (p.Cys976Ser)
5g.132886397T>ACA446377420AFF4c.3012A>T (p.Arg1004=)
c.1878A>T (p.Arg626=)
c.2925A>T (p.Arg975=)
5g.132886397T>CCA3408760AFF4c.3012A>G (p.Arg1004=)
c.1878A>G (p.Arg626=)
c.2925A>G (p.Arg975=)
dbSNP ExAC gnomAD v2
5g.132886397T>GCA446377423AFF4c.3012A>C (p.Arg1004=)
c.1878A>C (p.Arg626=)
c.2925A>C (p.Arg975=)
5g.132886397T=CA1583368908AFF4c.3012A= (p.Arg1004=)
c.1878A= (p.Arg626=)
c.2925A= (p.Arg975=)
5g.132886398C>ACA360969445AFF4c.3011G>T (p.Arg1004Leu)
c.1877G>T (p.Arg626Leu)
c.2924G>T (p.Arg975Leu)
COSMIC
5g.132886398C=CA1583368910AFF4c.3011G= (p.Arg1004=)
c.1877G= (p.Arg626=)
c.2924G= (p.Arg975=)
5g.132886398C>GCA360969447AFF4c.3011G>C (p.Arg1004Pro)
c.1877G>C (p.Arg626Pro)
c.2924G>C (p.Arg975Pro)
5g.132886398C>TCA3408761AFF4c.3011G>A (p.Arg1004Gln)
c.1877G>A (p.Arg626Gln)
c.2924G>A (p.Arg975Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886399G>ACA360969450AFF4c.3010C>T (p.Arg1004Ter)
c.1876C>T (p.Arg626Ter)
c.2923C>T (p.Arg975Ter)
COSMIC
5g.132886399G>CCA360969452AFF4c.3010C>G (p.Arg1004Gly)
c.1876C>G (p.Arg626Gly)
c.2923C>G (p.Arg975Gly)
5g.132886399G>TCA446377431AFF4c.3010C>A (p.Arg1004=)
c.1876C>A (p.Arg626=)
c.2923C>A (p.Arg975=)
5g.132886400C>ACA446377433AFF4c.3009G>T (p.Leu1003=)
c.1875G>T (p.Leu625=)
c.2922G>T (p.Leu974=)
5g.132886400C=CA1583368913AFF4c.3009G= (p.Leu1003=)
c.1875G= (p.Leu625=)
c.2922G= (p.Leu974=)
5g.132886400C>GCA446377435AFF4c.3009G>C (p.Leu1003=)
c.1875G>C (p.Leu625=)
c.2922G>C (p.Leu974=)
dbSNP gnomAD v2 gnomAD v4
5g.132886400C>TCA446377437AFF4c.3009G>A (p.Leu1003=)
c.1875G>A (p.Leu625=)
c.2922G>A (p.Leu974=)
gnomAD v4
5g.132886401A>CCA360969454AFF4c.3008T>G (p.Leu1003Arg)
c.1874T>G (p.Leu625Arg)
c.2921T>G (p.Leu974Arg)
5g.132886401A>GCA360969456AFF4c.3008T>C (p.Leu1003Pro)
c.1874T>C (p.Leu625Pro)
c.2921T>C (p.Leu974Pro)
gnomAD v4
5g.132886401A>TCA360969455AFF4c.3008T>A (p.Leu1003Gln)
c.1874T>A (p.Leu625Gln)
c.2921T>A (p.Leu974Gln)
5g.132886402G>ACA446377443AFF4c.3007C>T (p.Leu1003=)
c.1873C>T (p.Leu625=)
c.2920C>T (p.Leu974=)
5g.132886402G>CCA360969458AFF4c.3007C>G (p.Leu1003Val)
c.1873C>G (p.Leu625Val)
c.2920C>G (p.Leu974Val)
5g.132886402G=CA1583368917AFF4c.3007C= (p.Leu1003=)
c.1873C= (p.Leu625=)
c.2920C= (p.Leu974=)
5g.132886402G>TCA360969460AFF4c.3007C>A (p.Leu1003Met)
c.1873C>A (p.Leu625Met)
c.2920C>A (p.Leu974Met)
dbSNP gnomAD v2 gnomAD v4
5g.132886403G>ACA446377449AFF4c.3006C>T (p.Cys1002=)
c.1872C>T (p.Cys624=)
c.2919C>T (p.Cys973=)
5g.132886403G>CCA360969462AFF4c.3006C>G (p.Cys1002Trp)
c.1872C>G (p.Cys624Trp)
c.2919C>G (p.Cys973Trp)
5g.132886403G=CA1583368919AFF4c.3006C= (p.Cys1002=)
c.1872C= (p.Cys624=)
c.2919C= (p.Cys973=)
5g.132886403G>TCA3408762AFF4c.3006C>A (p.Cys1002Ter)
c.1872C>A (p.Cys624Ter)
c.2919C>A (p.Cys973Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886404C>ACA360969465AFF4c.3006-1G>T (n.3006-1G>T)
c.1872-1G>T (n.1872-1G>T)
c.2919-1G>T (n.2919-1G>T)
5g.132886404C=CA1583368922AFF4c.3006-1G= (n.3006-1G=)
c.1872-1G= (n.1872-1G=)
c.2919-1G= (n.2919-1G=)
5g.132886404C>GCA360969467AFF4c.3006-1G>C (n.3006-1G>C)
c.1872-1G>C (n.1872-1G>C)
c.2919-1G>C (n.2919-1G>C)
5g.132886404C>TCA3408763AFF4c.3006-1G>A (n.3006-1G>A)
c.1872-1G>A (n.1872-1G>A)
c.2919-1G>A (n.2919-1G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886405T>ACA360969471AFF4c.3006-2A>T (n.3006-2A>T)
c.1872-2A>T (n.1872-2A>T)
c.2919-2A>T (n.2919-2A>T)
5g.132886405T>CCA360969473AFF4c.3006-2A>G (n.3006-2A>G)
c.1872-2A>G (n.1872-2A>G)
c.2919-2A>G (n.2919-2A>G)
5g.132886405T>GCA360969475AFF4c.3006-2A>C (n.3006-2A>C)
c.1872-2A>C (n.1872-2A>C)
c.2919-2A>C (n.2919-2A>C)
5g.132886407delCA2675251697AFF4c.3006-4del (n.3006-4del)
c.1872-4del (n.1872-4del)
c.2919-4del (n.2919-4del)
gnomAD v4
5g.132886407G>ACA2675251698AFF4c.3006-4C>T (n.3006-4C>T)
c.1872-4C>T (n.1872-4C>T)
c.2919-4C>T (n.2919-4C>T)
gnomAD v4
5g.132886407G>CCA804039946AFF4c.3006-4C>G (n.3006-4C>G)
c.1872-4C>G (n.1872-4C>G)
c.2919-4C>G (n.2919-4C>G)
dbSNP gnomAD v3 gnomAD v4
5g.132886407G=CA1583368924AFF4c.3006-4C= (n.3006-4C=)
c.1872-4C= (n.1872-4C=)
c.2919-4C= (n.2919-4C=)
5g.132886408C>GCA2675251699AFF4c.3006-5G>C (n.3006-5G>C)
c.1872-5G>C (n.1872-5G>C)
c.2919-5G>C (n.2919-5G>C)
gnomAD v4
5g.132886409C=CA1583368926AFF4c.3006-6G= (n.3006-6G=)
c.1872-6G= (n.1872-6G=)
c.2919-6G= (n.2919-6G=)
5g.132886409C>GCA562788272AFF4c.3006-6G>C (n.3006-6G>C)
c.1872-6G>C (n.1872-6G>C)
c.2919-6G>C (n.2919-6G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132886410A>GCA2675251700AFF4c.3006-7T>C (n.3006-7T>C)
c.1872-7T>C (n.1872-7T>C)
c.2919-7T>C (n.2919-7T>C)
gnomAD v4
5g.132886411A>GCA2675251701AFF4c.3006-8T>C (n.3006-8T>C)
c.1872-8T>C (n.1872-8T>C)
c.2919-8T>C (n.2919-8T>C)
gnomAD v4
5g.132886412T>ACA3408764AFF4c.3006-9A>T (n.3006-9A>T)
c.1872-9A>T (n.1872-9A>T)
c.2919-9A>T (n.2919-9A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132886412T>CCA2675251702AFF4c.3006-9A>G (n.3006-9A>G)
c.1872-9A>G (n.1872-9A>G)
c.2919-9A>G (n.2919-9A>G)
gnomAD v4
5g.132886412T=CA1583368928AFF4c.3006-9A= (n.3006-9A=)
c.1872-9A= (n.1872-9A=)
c.2919-9A= (n.2919-9A=)
5g.132886413G>ACA3408765AFF4c.3006-10C>T (n.3006-10C>T)
c.1872-10C>T (n.1872-10C>T)
c.2919-10C>T (n.2919-10C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886413G=CA1583368930AFF4c.3006-10C= (n.3006-10C=)
c.1872-10C= (n.1872-10C=)
c.2919-10C= (n.2919-10C=)
5g.132886418delCA2675251703AFF4c.3006-12del (n.3006-12del)
c.1872-12del (n.1872-12del)
c.2919-12del (n.2919-12del)
gnomAD v4
5g.132886416A=CA1583368931AFF4c.3006-13T= (n.3006-13T=)
c.1872-13T= (n.1872-13T=)
c.2919-13T= (n.2919-13T=)
5g.132886416A>GCA3408766AFF4c.3006-13T>C (n.3006-13T>C)
c.1872-13T>C (n.1872-13T>C)
c.2919-13T>C (n.2919-13T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.132886418A>CCA2675251704AFF4c.3006-15T>G (n.3006-15T>G)
c.1872-15T>G (n.1872-15T>G)
c.2919-15T>G (n.2919-15T>G)
gnomAD v4
5g.132886418A>GCA2675251705AFF4c.3006-15T>C (n.3006-15T>C)
c.1872-15T>C (n.1872-15T>C)
c.2919-15T>C (n.2919-15T>C)
gnomAD v4
5g.132886418_132886419delinsAGCA1583368934AFF4c.3006-16_3006-15delinsCT (n.3006-16_3006-15delinsCT)
c.1872-16_1872-15delinsCT (n.1872-16_1872-15delinsCT)
c.2919-16_2919-15delinsCT (n.2919-16_2919-15delinsCT)

Number of alleles fetched