Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154896111_154896122delCA2695237820F8c.6386_6397del (p.Lys2129_Gln2132del)
c.6281_6292del (p.Lys2094_Gln2097del)
Xg.154896111T>ACA414899494F8c.6395A>T (p.Gln2132Leu)
c.6290A>T (p.Gln2097Leu)
Xg.154896111T>CCA414899499F8c.6395A>G (p.Gln2132Arg)
c.6290A>G (p.Gln2097Arg)
Xg.154896111T>GCA414899501F8c.6395A>C (p.Gln2132Pro)
c.6290A>C (p.Gln2097Pro)
Xg.154896112G>ACA414899504F8c.6394C>T (p.Gln2132Ter)
c.6289C>T (p.Gln2097Ter)
 COSMIC COSMIC
Xg.154896112G>CCA414899505F8c.6394C>G (p.Gln2132Glu)
c.6289C>G (p.Gln2097Glu)
Xg.154896112G>TCA414899506F8c.6394C>A (p.Gln2132Lys)
c.6289C>A (p.Gln2097Lys)
Xg.154896113C>ACA414899508F8c.6393G>T (p.Trp2131Cys)
c.6288G>T (p.Trp2096Cys)
Xg.154896113C=CA2466826005F8c.6393G= (p.Trp2131=)
c.6288G= (p.Trp2096=)
Xg.154896113C>GCA414899509F8c.6393G>C (p.Trp2131Cys)
c.6288G>C (p.Trp2096Cys)
Xg.154896113C>TCA414899507F8c.6393G>A (p.Trp2131Ter)
c.6288G>A (p.Trp2096Ter)
 dbSNP
Xg.154896114C>ACA414899515F8c.6392G>T (p.Trp2131Leu)
c.6287G>T (p.Trp2096Leu)
Xg.154896114C>GCA414899512F8c.6392G>C (p.Trp2131Ser)
c.6287G>C (p.Trp2096Ser)
Xg.154896114C>TCA414899514F8c.6392G>A (p.Trp2131Ter)
c.6287G>A (p.Trp2096Ter)
Xg.154896115A>CCA414899516F8c.6391T>G (p.Trp2131Gly)
c.6286T>G (p.Trp2096Gly)
Xg.154896115A>GCA414899517F8c.6391T>C (p.Trp2131Arg)
c.6286T>C (p.Trp2096Arg)
Xg.154896115A>TCA414899519F8c.6391T>A (p.Trp2131Arg)
c.6286T>A (p.Trp2096Arg)
Xg.154896116C>ACA414899522F8c.6390G>T (p.Lys2130Asn)
c.6285G>T (p.Lys2095Asn)
Xg.154896116C>GCA414899525F8c.6390G>C (p.Lys2130Asn)
c.6285G>C (p.Lys2095Asn)
Xg.154896116C>TCA519352518F8c.6390G>A (p.Lys2130=)
c.6285G>A (p.Lys2095=)
Xg.154896117T>ACA414899529F8c.6389A>T (p.Lys2130Met)
c.6284A>T (p.Lys2095Met)
Xg.154896117T>CCA414899531F8c.6389A>G (p.Lys2130Arg)
c.6284A>G (p.Lys2095Arg)
Xg.154896117T>GCA414899532F8c.6389A>C (p.Lys2130Thr)
c.6284A>C (p.Lys2095Thr)
Xg.154896118T>ACA414899536F8c.6388A>T (p.Lys2130Ter)
c.6283A>T (p.Lys2095Ter)
Xg.154896118T>CCA414899534F8c.6388A>G (p.Lys2130Glu)
c.6283A>G (p.Lys2095Glu)
Xg.154896118T>GCA414899533F8c.6388A>C (p.Lys2130Gln)
c.6283A>C (p.Lys2095Gln)
Xg.154896119C>ACA414899540F8c.6387G>T (p.Lys2129Asn)
c.6282G>T (p.Lys2094Asn)
 COSMIC COSMIC
Xg.154896119C>GCA414899543F8c.6387G>C (p.Lys2129Asn)
c.6282G>C (p.Lys2094Asn)
Xg.154896119C>TCA519352532F8c.6387G>A (p.Lys2129=)
c.6282G>A (p.Lys2094=)
Xg.154896120T>ACA414899546F8c.6386A>T (p.Lys2129Met)
c.6281A>T (p.Lys2094Met)
Xg.154896120T>CCA414899550F8c.6386A>G (p.Lys2129Arg)
c.6281A>G (p.Lys2094Arg)
Xg.154896120T>GCA414899551F8c.6386A>C (p.Lys2129Thr)
c.6281A>C (p.Lys2094Thr)
Xg.154896121T>ACA414899553F8c.6385A>T (p.Lys2129Ter)
c.6280A>T (p.Lys2094Ter)
Xg.154896121T>CCA414899554F8c.6385A>G (p.Lys2129Glu)
c.6280A>G (p.Lys2094Glu)
Xg.154896121T>GCA414899555F8c.6385A>C (p.Lys2129Gln)
c.6280A>C (p.Lys2094Gln)
Xg.154896122C>ACA519352544F8c.6384G>T (p.Gly2128=)
c.6279G>T (p.Gly2093=)
Xg.154896122C>GCA519352546F8c.6384G>C (p.Gly2128=)
c.6279G>C (p.Gly2093=)
Xg.154896122C>TCA519352548F8c.6384G>A (p.Gly2128=)
c.6279G>A (p.Gly2093=)
Xg.154896124delCA2695237821F8c.6384del (p.Lys2129ArgfsTer14)
c.6279del (p.Lys2094ArgfsTer14)
Xg.154896123C>ACA414899556F8c.6383G>T (p.Gly2128Val)
c.6278G>T (p.Gly2093Val)
Xg.154896123C=CA2466826006F8c.6383G= (p.Gly2128=)
c.6278G= (p.Gly2093=)
Xg.154896123C>GCA414899558F8c.6383G>C (p.Gly2128Ala)
c.6278G>C (p.Gly2093Ala)
 COSMIC COSMIC
Xg.154896123C>TCA414899564F8c.6383G>A (p.Gly2128Glu)
c.6278G>A (p.Gly2093Glu)
 dbSNP gnomAD v4
Xg.154896124C>ACA414899568F8c.6382G>T (p.Gly2128Trp)
c.6277G>T (p.Gly2093Trp)
 COSMIC COSMIC
Xg.154896124C>GCA414899570F8c.6382G>C (p.Gly2128Arg)
c.6277G>C (p.Gly2093Arg)
 gnomAD v4
Xg.154896124C>TCA414899566F8c.6382G>A (p.Gly2128Arg)
c.6277G>A (p.Gly2093Arg)
Xg.154896125A=CA2466826007F8c.6381T= (p.Asp2127=)
c.6276T= (p.Asp2092=)
Xg.154896125A>CCA414899573F8c.6381T>G (p.Asp2127Glu)
c.6276T>G (p.Asp2092Glu)
Xg.154896125A>GCA10567863F8c.6381T>C (p.Asp2127=)
c.6276T>C (p.Asp2092=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896125A>TCA414899578F8c.6381T>A (p.Asp2127Glu)
c.6276T>A (p.Asp2092Glu)
Xg.154896126T>ACA414899582F8c.6380A>T (p.Asp2127Val)
c.6275A>T (p.Asp2092Val)
Xg.154896126T>CCA414899587F8c.6380A>G (p.Asp2127Gly)
c.6275A>G (p.Asp2092Gly)
 dbSNP
Xg.154896126T>GCA414899589F8c.6380A>C (p.Asp2127Ala)
c.6275A>C (p.Asp2092Ala)
Xg.154896126T=CA2466826008F8c.6380A= (p.Asp2127=)
c.6275A= (p.Asp2092=)
Xg.154896127C>ACA414899591F8c.6379G>T (p.Asp2127Tyr)
c.6274G>T (p.Asp2092Tyr)
Xg.154896127C=CA2466826009F8c.6379G= (p.Asp2127=)
c.6274G= (p.Asp2092=)
Xg.154896127C>GCA414899594F8c.6379G>C (p.Asp2127His)
c.6274G>C (p.Asp2092His)
Xg.154896127C>TCA414899596F8c.6379G>A (p.Asp2127Asn)
c.6274G>A (p.Asp2092Asn)
 dbSNP gnomAD v4
Xg.154896129_154896138delCA2695237822F8c.6370_6379del (p.Tyr2124MetfsTer16)
c.6265_6274del (p.Tyr2089MetfsTer16)
Xg.154896128A>CCA519352574F8c.6378T>G (p.Leu2126=)
c.6273T>G (p.Leu2091=)
Xg.154896128A>GCA519352572F8c.6378T>C (p.Leu2126=)
c.6273T>C (p.Leu2091=)
Xg.154896128A>TCA519352570F8c.6378T>A (p.Leu2126=)
c.6273T>A (p.Leu2091=)
Xg.154896129A=CA2466826010F8c.6377T= (p.Leu2126=)
c.6272T= (p.Leu2091=)
Xg.154896129A>CCA414899601F8c.6377T>G (p.Leu2126Arg)
c.6272T>G (p.Leu2091Arg)
Xg.154896129A>GCA414899602F8c.6377T>C (p.Leu2126Pro)
c.6272T>C (p.Leu2091Pro)
 dbSNP gnomAD v4
Xg.154896129A>TCA414899605F8c.6377T>A (p.Leu2126His)
c.6272T>A (p.Leu2091His)
Xg.154896130_154896134delCA2695237823F8c.6373_6377del (p.Ser2125Ter)
c.6268_6272del (p.Ser2090Ter)
Xg.154896130G>ACA414899618F8c.6376C>T (p.Leu2126Phe)
c.6271C>T (p.Leu2091Phe)
Xg.154896130G>CCA414899609F8c.6376C>G (p.Leu2126Val)
c.6271C>G (p.Leu2091Val)
Xg.154896130G>TCA414899616F8c.6376C>A (p.Leu2126Ile)
c.6271C>A (p.Leu2091Ile)
Xg.154896131A=CA2466826011F8c.6375T= (p.Ser2125=)
c.6270T= (p.Ser2090=)
Xg.154896131A>CCA414899620F8c.6375T>G (p.Ser2125Arg)
c.6270T>G (p.Ser2090Arg)
Xg.154896131A>GCA519352587F8c.6375T>C (p.Ser2125=)
c.6270T>C (p.Ser2090=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896131A>TCA414899622F8c.6375T>A (p.Ser2125Arg)
c.6270T>A (p.Ser2090Arg)
 ClinVar
Xg.154896132C>ACA414899626F8c.6374G>T (p.Ser2125Ile)
c.6269G>T (p.Ser2090Ile)
Xg.154896132C=CA2466826012F8c.6374G= (p.Ser2125=)
c.6269G= (p.Ser2090=)
Xg.154896132C>GCA10567864F8c.6374G>C (p.Ser2125Thr)
c.6269G>C (p.Ser2090Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896132C>TCA414899635F8c.6374G>A (p.Ser2125Asn)
c.6269G>A (p.Ser2090Asn)
Xg.154896133T>ACA414899637F8c.6373A>T (p.Ser2125Cys)
c.6268A>T (p.Ser2090Cys)
Xg.154896133T>CCA414899641F8c.6373A>G (p.Ser2125Gly)
c.6268A>G (p.Ser2090Gly)
Xg.154896133T>GCA414899642F8c.6373A>C (p.Ser2125Arg)
c.6268A>C (p.Ser2090Arg)
Xg.154896134A>CCA414899644F8c.6372T>G (p.Tyr2124Ter)
c.6267T>G (p.Tyr2089Ter)
Xg.154896134A>GCA519352600F8c.6372T>C (p.Tyr2124=)
c.6267T>C (p.Tyr2089=)
 gnomAD v4
Xg.154896134A>TCA414899645F8c.6372T>A (p.Tyr2124Ter)
c.6267T>A (p.Tyr2089Ter)
Xg.154896135T>ACA414899647F8c.6371A>T (p.Tyr2124Phe)
c.6266A>T (p.Tyr2089Phe)
Xg.154896135T>CCA255203F8c.6371A>G (p.Tyr2124Cys)
c.6266A>G (p.Tyr2089Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896135T>GCA414899653F8c.6371A>C (p.Tyr2124Ser)
c.6266A>C (p.Tyr2089Ser)
Xg.154896135T=CA2466826013F8c.6371A= (p.Tyr2124=)
c.6266A= (p.Tyr2089=)
Xg.154896136A=CA2466826014F8c.6370T= (p.Tyr2124=)
c.6265T= (p.Tyr2089=)
Xg.154896136A>CCA414899673F8c.6370T>G (p.Tyr2124Asp)
c.6265T>G (p.Tyr2089Asp)
Xg.154896136A>GCA414899674F8c.6370T>C (p.Tyr2124His)
c.6265T>C (p.Tyr2089His)
Xg.154896136A>TCA414899656F8c.6370T>A (p.Tyr2124Asn)
c.6265T>A (p.Tyr2089Asn)
 dbSNP
Xg.154896137C>ACA414899679F8c.6369G>T (p.Met2123Ile)
c.6264G>T (p.Met2088Ile)
Xg.154896137C=CA2466826015F8c.6369G= (p.Met2123=)
c.6264G= (p.Met2088=)
Xg.154896137C>GCA414899676F8c.6369G>C (p.Met2123Ile)
c.6264G>C (p.Met2088Ile)
Xg.154896137C>TCA10567865F8c.6369G>A (p.Met2123Ile)
c.6264G>A (p.Met2088Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896138A=CA2466826016F8c.6368T= (p.Met2123=)
c.6263T= (p.Met2088=)
Xg.154896138A>CCA414899683F8c.6368T>G (p.Met2123Arg)
c.6263T>G (p.Met2088Arg)
Xg.154896138A>GCA10567866F8c.6368T>C (p.Met2123Thr)
c.6263T>C (p.Met2088Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896138A>TCA414899684F8c.6368T>A (p.Met2123Lys)
c.6263T>A (p.Met2088Lys)
Xg.154896139T>ACA414899687F8c.6367A>T (p.Met2123Leu)
c.6262A>T (p.Met2088Leu)
Xg.154896139T>CCA414899689F8c.6367A>G (p.Met2123Val)
c.6262A>G (p.Met2088Val)
 gnomAD v4
Xg.154896139T>GCA414899692F8c.6367A>C (p.Met2123Leu)
c.6262A>C (p.Met2088Leu)
Xg.154896140G>ACA519352626F8c.6366C>T (p.Ile2122=)
c.6261C>T (p.Ile2087=)
Xg.154896140G>CCA414899701F8c.6366C>G (p.Ile2122Met)
c.6261C>G (p.Ile2087Met)
Xg.154896140G>TCA519352629F8c.6366C>A (p.Ile2122=)
c.6261C>A (p.Ile2087=)
Xg.154896141A>CCA414899702F8c.6365T>G (p.Ile2122Ser)
c.6260T>G (p.Ile2087Ser)
Xg.154896141A>GCA414899703F8c.6365T>C (p.Ile2122Thr)
c.6260T>C (p.Ile2087Thr)
Xg.154896141A>TCA414899704F8c.6365T>A (p.Ile2122Asn)
c.6260T>A (p.Ile2087Asn)
Xg.154896142T>ACA414899707F8c.6364A>T (p.Ile2122Phe)
c.6259A>T (p.Ile2087Phe)
Xg.154896142T>CCA414899708F8c.6364A>G (p.Ile2122Val)
c.6259A>G (p.Ile2087Val)
Xg.154896142T>GCA414899711F8c.6364A>C (p.Ile2122Leu)
c.6259A>C (p.Ile2087Leu)
Xg.154896143G>ACA519352641F8c.6363C>T (p.Ile2121=)
c.6258C>T (p.Ile2086=)
Xg.154896143G>CCA414899715F8c.6363C>G (p.Ile2121Met)
c.6258C>G (p.Ile2086Met)
Xg.154896143G>TCA519352644F8c.6363C>A (p.Ile2121=)
c.6258C>A (p.Ile2086=)
Xg.154896144A=CA2466826018F8c.6362T= (p.Ile2121=)
c.6257T= (p.Ile2086=)
Xg.154896144A>CCA414899720F8c.6362T>G (p.Ile2121Ser)
c.6257T>G (p.Ile2086Ser)
Xg.154896144A>GCA414899721F8c.6362T>C (p.Ile2121Thr)
c.6257T>C (p.Ile2086Thr)
 dbSNP gnomAD v4
Xg.154896144A>TCA414899722F8c.6362T>A (p.Ile2121Asn)
c.6257T>A (p.Ile2086Asn)
 ClinVar
Xg.154896144_154896149delinsATAAACCA2466826017F8c.6357_6362delinsGTTTAT (p.Gln2119=)
c.6252_6257delinsGTTTAT (p.Gln2084=)
Xg.154896145T>ACA414899725F8c.6361A>T (p.Ile2121Phe)
c.6256A>T (p.Ile2086Phe)
Xg.154896145T>CCA414899729F8c.6361A>G (p.Ile2121Val)
c.6256A>G (p.Ile2086Val)
Xg.154896145T>GCA414899733F8c.6361A>C (p.Ile2121Leu)
c.6256A>C (p.Ile2086Leu)
Xg.154896146_154896150delCA873337992F8c.6357_6361del (p.Gln2119HisfsTer5)
c.6252_6256del (p.Gln2084HisfsTer5)
 dbSNP
Xg.154896146A=CA2466826019F8c.6360T= (p.Phe2120=)
c.6255T= (p.Phe2085=)
Xg.154896146A>CCA255202F8c.6360T>G (p.Phe2120Leu)
c.6255T>G (p.Phe2085Leu)
 ClinVar dbSNP
Xg.154896146A>GCA519352656F8c.6360T>C (p.Phe2120=)
c.6255T>C (p.Phe2085=)
Xg.154896146A>TCA414899736F8c.6360T>A (p.Phe2120Leu)
c.6255T>A (p.Phe2085Leu)
Xg.154896147A>CCA414899743F8c.6359T>G (p.Phe2120Cys)
c.6254T>G (p.Phe2085Cys)
Xg.154896147A>GCA414899745F8c.6359T>C (p.Phe2120Ser)
c.6254T>C (p.Phe2085Ser)
Xg.154896147A>TCA414899746F8c.6359T>A (p.Phe2120Tyr)
c.6254T>A (p.Phe2085Tyr)
Xg.154896148A>CCA414899759F8c.6358T>G (p.Phe2120Val)
c.6253T>G (p.Phe2085Val)
Xg.154896148A>GCA414899758F8c.6358T>C (p.Phe2120Leu)
c.6253T>C (p.Phe2085Leu)
 COSMIC COSMIC
Xg.154896148A>TCA414899752F8c.6358T>A (p.Phe2120Ile)
c.6253T>A (p.Phe2085Ile)
Xg.154896149C>ACA414899762F8c.6357G>T (p.Gln2119His)
c.6252G>T (p.Gln2084His)
Xg.154896149C=CA2466826020F8c.6357G= (p.Gln2119=)
c.6252G= (p.Gln2084=)
Xg.154896149C>GCA414899763F8c.6357G>C (p.Gln2119His)
c.6252G>C (p.Gln2084His)
Xg.154896149C>TCA519352672F8c.6357G>A (p.Gln2119=)
c.6252G>A (p.Gln2084=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896150T>ACA414899764F8c.6356A>T (p.Gln2119Leu)
c.6251A>T (p.Gln2084Leu)
Xg.154896150T>CCA414899765F8c.6356A>G (p.Gln2119Arg)
c.6251A>G (p.Gln2084Arg)
Xg.154896150T>GCA414899766F8c.6356A>C (p.Gln2119Pro)
c.6251A>C (p.Gln2084Pro)
Xg.154896150_154896151delCA2695237824F8c.6355_6356del (p.Gln2119ValfsTer6)
c.6250_6251del (p.Gln2084ValfsTer6)
Xg.154896151delCA2695237825F8c.6355del (p.Gln2119SerfsTer24)
c.6250del (p.Gln2084SerfsTer24)
Xg.154896151G>ACA414899773F8c.6355C>T (p.Gln2119Ter)
c.6250C>T (p.Gln2084Ter)
 ClinVar dbSNP
Xg.154896151G>CCA414899775F8c.6355C>G (p.Gln2119Glu)
c.6250C>G (p.Gln2084Glu)
 dbSNP
Xg.154896151G=CA2466826021F8c.6355C= (p.Gln2119=)
c.6250C= (p.Gln2084=)
Xg.154896151G>TCA414899776F8c.6355C>A (p.Gln2119Lys)
c.6250C>A (p.Gln2084Lys)
Xg.154896152A>CCA519352684F8c.6354T>G (p.Ser2118=)
c.6249T>G (p.Ser2083=)
Xg.154896152A>GCA519352686F8c.6354T>C (p.Ser2118=)
c.6249T>C (p.Ser2083=)
Xg.154896152A>TCA519352688F8c.6354T>A (p.Ser2118=)
c.6249T>A (p.Ser2083=)
Xg.154896153G>ACA414899781F8c.6353C>T (p.Ser2118Phe)
c.6248C>T (p.Ser2083Phe)
Xg.154896153G>CCA414899785F8c.6353C>G (p.Ser2118Cys)
c.6248C>G (p.Ser2083Cys)
Xg.154896153G>TCA414899789F8c.6353C>A (p.Ser2118Tyr)
c.6248C>A (p.Ser2083Tyr)
Xg.154896154A>CCA414899799F8c.6352T>G (p.Ser2118Ala)
c.6247T>G (p.Ser2083Ala)
Xg.154896154A>GCA414899798F8c.6352T>C (p.Ser2118Pro)
c.6247T>C (p.Ser2083Pro)
Xg.154896154A>TCA414899797F8c.6352T>A (p.Ser2118Thr)
c.6247T>A (p.Ser2083Thr)
Xg.154896155G>ACA519352699F8c.6351C>T (p.Ile2117=)
c.6246C>T (p.Ile2082=)
Xg.154896155G>CCA414899801F8c.6351C>G (p.Ile2117Met)
c.6246C>G (p.Ile2082Met)
Xg.154896155G>TCA519352702F8c.6351C>A (p.Ile2117=)
c.6246C>A (p.Ile2082=)
 gnomAD v4
Xg.154896156A>CCA414899803F8c.6350T>G (p.Ile2117Ser)
c.6245T>G (p.Ile2082Ser)
Xg.154896156A>GCA414899805F8c.6350T>C (p.Ile2117Thr)
c.6245T>C (p.Ile2082Thr)
Xg.154896156A>TCA414899808F8c.6350T>A (p.Ile2117Asn)
c.6245T>A (p.Ile2082Asn)
Xg.154896157T>ACA414899811F8c.6349A>T (p.Ile2117Phe)
c.6244A>T (p.Ile2082Phe)
 dbSNP
Xg.154896157T>CCA414899813F8c.6349A>G (p.Ile2117Val)
c.6244A>G (p.Ile2082Val)
 gnomAD v4
Xg.154896157T>GCA414899822F8c.6349A>C (p.Ile2117Leu)
c.6244A>C (p.Ile2082Leu)
Xg.154896157T=CA2466826022F8c.6349A= (p.Ile2117=)
c.6244A= (p.Ile2082=)
Xg.154896158G>ACA519352714F8c.6348C>T (p.Tyr2116=)
c.6243C>T (p.Tyr2081=)
 gnomAD v4
Xg.154896158G>CCA414899824F8c.6348C>G (p.Tyr2116Ter)
c.6243C>G (p.Tyr2081Ter)
Xg.154896158G>TCA414899825F8c.6348C>A (p.Tyr2116Ter)
c.6243C>A (p.Tyr2081Ter)
Xg.154896159T>ACA414899826F8c.6347A>T (p.Tyr2116Phe)
c.6242A>T (p.Tyr2081Phe)
Xg.154896159T>CCA414899827F8c.6347A>G (p.Tyr2116Cys)
c.6242A>G (p.Tyr2081Cys)
Xg.154896159T>GCA414899830F8c.6347A>C (p.Tyr2116Ser)
c.6242A>C (p.Tyr2081Ser)
Xg.154896160A=CA2466826023F8c.6346T= (p.Tyr2116=)
c.6241T= (p.Tyr2081=)
Xg.154896160A>CCA414899845F8c.6346T>G (p.Tyr2116Asp)
c.6241T>G (p.Tyr2081Asp)
Xg.154896160A>GCA337315893F8c.6346T>C (p.Tyr2116His)
c.6241T>C (p.Tyr2081His)
 ClinVar dbSNP
Xg.154896160A>TCA414899840F8c.6346T>A (p.Tyr2116Asn)
c.6241T>A (p.Tyr2081Asn)
Xg.154896161G>ACA519352729F8c.6345C>T (p.Leu2115=)
c.6240C>T (p.Leu2080=)
Xg.154896161G>CCA519352731F8c.6345C>G (p.Leu2115=)
c.6240C>G (p.Leu2080=)
Xg.154896161G>TCA519352733F8c.6345C>A (p.Leu2115=)
c.6240C>A (p.Leu2080=)
Xg.154896162delCA2695237826F8c.6344del (p.Leu2115ProfsTer28)
c.6239del (p.Leu2080ProfsTer28)
Xg.154896162A>CCA414899850F8c.6344T>G (p.Leu2115Arg)
c.6239T>G (p.Leu2080Arg)
Xg.154896162A>GCA414899862F8c.6344T>C (p.Leu2115Pro)
c.6239T>C (p.Leu2080Pro)
Xg.154896162A>TCA414899860F8c.6344T>A (p.Leu2115His)
c.6239T>A (p.Leu2080His)
Xg.154896163G>ACA414899868F8c.6343C>T (p.Leu2115Phe)
c.6238C>T (p.Leu2080Phe)
Xg.154896163G>CCA414899869F8c.6343C>G (p.Leu2115Val)
c.6238C>G (p.Leu2080Val)
Xg.154896163G>TCA414899872F8c.6343C>A (p.Leu2115Ile)
c.6238C>A (p.Leu2080Ile)
Xg.154896164delCA2695237827F8c.6343del (p.Leu2115SerfsTer28)
c.6238del (p.Leu2080SerfsTer28)
Xg.154896164G>ACA519352745F8c.6342C>T (p.Ser2114=)
c.6237C>T (p.Ser2079=)
Xg.154896164G>CCA414899874F8c.6342C>G (p.Ser2114Arg)
c.6237C>G (p.Ser2079Arg)
Xg.154896164G>TCA414899878F8c.6342C>A (p.Ser2114Arg)
c.6237C>A (p.Ser2079Arg)
 gnomAD v4
Xg.154896165C>ACA414899883F8c.6341G>T (p.Ser2114Ile)
c.6236G>T (p.Ser2079Ile)
Xg.154896165C>GCA414899887F8c.6341G>C (p.Ser2114Thr)
c.6236G>C (p.Ser2079Thr)
Xg.154896165C>TCA414899896F8c.6341G>A (p.Ser2114Asn)
c.6236G>A (p.Ser2079Asn)
Xg.154896166T>ACA414899900F8c.6340A>T (p.Ser2114Cys)
c.6235A>T (p.Ser2079Cys)
Xg.154896166T>CCA414899901F8c.6340A>G (p.Ser2114Gly)
c.6235A>G (p.Ser2079Gly)
Xg.154896166T>GCA414899903F8c.6340A>C (p.Ser2114Arg)
c.6235A>C (p.Ser2079Arg)
Xg.154896167G>ACA519352761F8c.6339C>T (p.Ser2113=)
c.6234C>T (p.Ser2078=)
Xg.154896167G>CCA519352759F8c.6339C>G (p.Ser2113=)
c.6234C>G (p.Ser2078=)
Xg.154896167G>TCA519352757F8c.6339C>A (p.Ser2113=)
c.6234C>A (p.Ser2078=)
Xg.154896168G>ACA414899918F8c.6338C>T (p.Ser2113Phe)
c.6233C>T (p.Ser2078Phe)
Xg.154896168G>CCA414899907F8c.6338C>G (p.Ser2113Cys)
c.6233C>G (p.Ser2078Cys)
Xg.154896168G=CA2466826024F8c.6338C= (p.Ser2113=)
c.6233C= (p.Ser2078=)
Xg.154896168G>TCA337315897F8c.6338C>A (p.Ser2113Tyr)
c.6233C>A (p.Ser2078Tyr)
 dbSNP gnomAD v4
Xg.154896169A=CA2466826025F8c.6337T= (p.Ser2113=)
c.6232T= (p.Ser2078=)
Xg.154896169A>CCA414899924F8c.6337T>G (p.Ser2113Ala)
c.6232T>G (p.Ser2078Ala)
Xg.154896169A>GCA10567867F8c.6337T>C (p.Ser2113Pro)
c.6232T>C (p.Ser2078Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896169A>TCA414899928F8c.6337T>A (p.Ser2113Thr)
c.6232T>A (p.Ser2078Thr)
Xg.154896170G>ACA519352775F8c.6336C>T (p.Phe2112=)
c.6231C>T (p.Phe2077=)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896170G>CCA414899931F8c.6336C>G (p.Phe2112Leu)
c.6231C>G (p.Phe2077Leu)
Xg.154896170G=CA2466826026F8c.6336C= (p.Phe2112=)
c.6231C= (p.Phe2077=)
Xg.154896170G>TCA414899935F8c.6336C>A (p.Phe2112Leu)
c.6231C>A (p.Phe2077Leu)
 dbSNP gnomAD v4
Xg.154896171A=CA2466826027F8c.6335T= (p.Phe2112=)
c.6230T= (p.Phe2077=)
Xg.154896171A>CCA414899939F8c.6335T>G (p.Phe2112Cys)
c.6230T>G (p.Phe2077Cys)
Xg.154896171A>GCA10567868F8c.6335T>C (p.Phe2112Ser)
c.6230T>C (p.Phe2077Ser)
 dbSNP ExAC gnomAD v2
Xg.154896171A>TCA414899948F8c.6335T>A (p.Phe2112Tyr)
c.6230T>A (p.Phe2077Tyr)
Xg.154896172A>CCA414899953F8c.6334T>G (p.Phe2112Val)
c.6229T>G (p.Phe2077Val)
Xg.154896172A>GCA414899955F8c.6334T>C (p.Phe2112Leu)
c.6229T>C (p.Phe2077Leu)
Xg.154896172A>TCA414899958F8c.6334T>A (p.Phe2112Ile)
c.6229T>A (p.Phe2077Ile)
Xg.154896173C>ACA414899961F8c.6333G>T (p.Lys2111Asn)
c.6228G>T (p.Lys2076Asn)
Xg.154896173C>GCA414899963F8c.6333G>C (p.Lys2111Asn)
c.6228G>C (p.Lys2076Asn)
Xg.154896173C>TCA519352789F8c.6333G>A (p.Lys2111=)
c.6228G>A (p.Lys2076=)
 gnomAD v4
Xg.154896174T>ACA414899967F8c.6332A>T (p.Lys2111Met)
c.6227A>T (p.Lys2076Met)
Xg.154896174T>CCA414899971F8c.6332A>G (p.Lys2111Arg)
c.6227A>G (p.Lys2076Arg)
Xg.154896174T>GCA414899978F8c.6332A>C (p.Lys2111Thr)
c.6227A>C (p.Lys2076Thr)
Xg.154896175T>ACA414899981F8c.6331A>T (p.Lys2111Ter)
c.6226A>T (p.Lys2076Ter)
Xg.154896175T>CCA10567869F8c.6331A>G (p.Lys2111Glu)
c.6226A>G (p.Lys2076Glu)
 dbSNP ExAC gnomAD v2
Xg.154896175T>GCA414899984F8c.6331A>C (p.Lys2111Gln)
c.6226A>C (p.Lys2076Gln)
Xg.154896175T=CA2466826028F8c.6331A= (p.Lys2111=)
c.6226A= (p.Lys2076=)
Xg.154896176C>ACA414899988F8c.6330G>T (p.Gln2110His)
c.6225G>T (p.Gln2075His)
Xg.154896176C>GCA414899993F8c.6330G>C (p.Gln2110His)
c.6225G>C (p.Gln2075His)
Xg.154896176C>TCA519352804F8c.6330G>A (p.Gln2110=)
c.6225G>A (p.Gln2075=)
Xg.154896177T>ACA414899997F8c.6329A>T (p.Gln2110Leu)
c.6224A>T (p.Gln2075Leu)
Xg.154896177T>CCA414900003F8c.6329A>G (p.Gln2110Arg)
c.6224A>G (p.Gln2075Arg)
Xg.154896177T>GCA414900009F8c.6329A>C (p.Gln2110Pro)
c.6224A>C (p.Gln2075Pro)
Xg.154896178G>ACA414900018F8c.6328C>T (p.Gln2110Ter)
c.6223C>T (p.Gln2075Ter)
Xg.154896178G>CCA414900015F8c.6328C>G (p.Gln2110Glu)
c.6223C>G (p.Gln2075Glu)
Xg.154896178G>TCA414900013F8c.6328C>A (p.Gln2110Lys)
c.6223C>A (p.Gln2075Lys)
Xg.154896179A>CCA519352816F8c.6327T>G (p.Arg2109=)
c.6222T>G (p.Arg2074=)
Xg.154896179A>GCA519352818F8c.6327T>C (p.Arg2109=)
c.6222T>C (p.Arg2074=)
Xg.154896179A>TCA519352820F8c.6327T>A (p.Arg2109=)
c.6222T>A (p.Arg2074=)
Xg.154896180delCA2579744400F8c.6326del (p.Arg2109LeufsTer?)
c.6221del (p.Arg2074LeufsTer?)
Xg.154896180C>ACA414900022F8c.6326G>T (p.Arg2109Leu)
c.6221G>T (p.Arg2074Leu)
Xg.154896180C=CA2466826029F8c.6326G= (p.Arg2109=)
c.6221G= (p.Arg2074=)
Xg.154896180C>GCA414900025F8c.6326G>C (p.Arg2109Pro)
c.6221G>C (p.Arg2074Pro)
 ClinVar
Xg.154896180C>TCA10567870F8c.6326G>A (p.Arg2109His)
c.6221G>A (p.Arg2074His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896180_154896181delCA2695237828F8c.6325_6326del (p.Arg2109SerfsTer16)
c.6220_6221del (p.Arg2074SerfsTer16)
Xg.154896181G>ACA414900031F8c.6325C>T (p.Arg2109Cys)
c.6220C>T (p.Arg2074Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154896181G>CCA414900035F8c.6325C>G (p.Arg2109Gly)
c.6220C>G (p.Arg2074Gly)
Xg.154896181G=CA2466826030F8c.6325C= (p.Arg2109=)
c.6220C= (p.Arg2074=)
Xg.154896181G>TCA414900036F8c.6325C>A (p.Arg2109Ser)
c.6220C>A (p.Arg2074Ser)
Xg.154896183delCA2695237829F8c.6325del (p.Arg2109ValfsTer?)
c.6220del (p.Arg2074ValfsTer?)
Xg.154896182G>ACA519352833F8c.6324C>T (p.Ala2108=)
c.6219C>T (p.Ala2073=)
Xg.154896182G>CCA519352836F8c.6324C>G (p.Ala2108=)
c.6219C>G (p.Ala2073=)
Xg.154896182G=CA2466826031F8c.6324C= (p.Ala2108=)
c.6219C= (p.Ala2073=)
Xg.154896182G>TCA519352838F8c.6324C>A (p.Ala2108=)
c.6219C>A (p.Ala2073=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896183G>ACA10567871F8c.6323C>T (p.Ala2108Val)
c.6218C>T (p.Ala2073Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154896183G>CCA414900045F8c.6323C>G (p.Ala2108Gly)
c.6218C>G (p.Ala2073Gly)
Xg.154896183G=CA2466826032F8c.6323C= (p.Ala2108=)
c.6218C= (p.Ala2073=)
Xg.154896183G>TCA414900046F8c.6323C>A (p.Ala2108Asp)
c.6218C>A (p.Ala2073Asp)
Xg.154896184C>ACA414900047F8c.6322G>T (p.Ala2108Ser)
c.6217G>T (p.Ala2073Ser)
Xg.154896184C>GCA414900048F8c.6322G>C (p.Ala2108Pro)
c.6217G>C (p.Ala2073Pro)
 ClinVar dbSNP
Xg.154896184C>TCA414900050F8c.6322G>A (p.Ala2108Thr)
c.6217G>A (p.Ala2073Thr)
Xg.154896185_154896187delCA2695237830F8c.6320_6322del (p.Gly2107del)
c.6215_6217del (p.Gly2072del)
Xg.154896185delCA2695237831F8c.6321del (p.Ala2108ProfsTer?)
c.6216del (p.Ala2073ProfsTer?)
Xg.154896185A>CCA519352852F8c.6321T>G (p.Gly2107=)
c.6216T>G (p.Gly2072=)
Xg.154896185A>GCA519352854F8c.6321T>C (p.Gly2107=)
c.6216T>C (p.Gly2072=)
Xg.154896185A>TCA519352856F8c.6321T>A (p.Gly2107=)
c.6216T>A (p.Gly2072=)
 gnomAD v4
Xg.154896185_154896186delinsACCA2466826033F8c.6320_6321delinsGT (p.Gly2107=)
c.6215_6216delinsGT (p.Gly2072=)
Xg.154896185_154896186insGTCA2695237832F8c.6320_6321insAC (p.Ala2108LeufsTer?)
c.6215_6216insAC (p.Ala2073LeufsTer?)
Xg.154896186C>ACA414900051F8c.6320G>T (p.Gly2107Val)
c.6215G>T (p.Gly2072Val)
 dbSNP
Xg.154896186C=CA2466826035F8c.6320G= (p.Gly2107=)
c.6215G= (p.Gly2072=)
Xg.154896186C>GCA414900053F8c.6320G>C (p.Gly2107Ala)
c.6215G>C (p.Gly2072Ala)
Xg.154896186C>TCA414900052F8c.6320G>A (p.Gly2107Asp)
c.6215G>A (p.Gly2072Asp)
 ClinVar dbSNP
Xg.154896188delCA2466826034F8c.6320del (p.Gly2107ValfsTer?)
c.6215del (p.Gly2072ValfsTer?)
 dbSNP
Xg.154896187C>ACA414900054F8c.6319G>T (p.Gly2107Cys)
c.6214G>T (p.Gly2072Cys)
Xg.154896187C=CA2466826036F8c.6319G= (p.Gly2107=)
c.6214G= (p.Gly2072=)
Xg.154896187C>GCA414900058F8c.6319G>C (p.Gly2107Arg)
c.6214G>C (p.Gly2072Arg)
Xg.154896187C>TCA414900056F8c.6319G>A (p.Gly2107Ser)
c.6214G>A (p.Gly2072Ser)
 ClinVar dbSNP
Xg.154896188C>ACA414900061F8c.6318G>T (p.Gln2106His)
c.6213G>T (p.Gln2071His)
Xg.154896188C>GCA414900062F8c.6318G>C (p.Gln2106His)
c.6213G>C (p.Gln2071His)
Xg.154896188C>TCA519352870F8c.6318G>A (p.Gln2106=)
c.6213G>A (p.Gln2071=)
Xg.154896189T>ACA414900067F8c.6317A>T (p.Gln2106Leu)
c.6212A>T (p.Gln2071Leu)
Xg.154896189T>CCA414900074F8c.6317A>G (p.Gln2106Arg)
c.6212A>G (p.Gln2071Arg)
 dbSNP gnomAD v4
Xg.154896189T>GCA414900070F8c.6317A>C (p.Gln2106Pro)
c.6212A>C (p.Gln2071Pro)
 dbSNP
Xg.154896189T=CA2466826037F8c.6317A= (p.Gln2106=)
c.6212A= (p.Gln2071=)
Xg.154896190G>ACA414900084F8c.6316C>T (p.Gln2106Ter)
c.6211C>T (p.Gln2071Ter)
 dbSNP
Xg.154896190G>CCA414900091F8c.6316C>G (p.Gln2106Glu)
c.6211C>G (p.Gln2071Glu)
 dbSNP
Xg.154896190G=CA2466826038F8c.6316C= (p.Gln2106=)
c.6211C= (p.Gln2071=)
Xg.154896190G>TCA414900096F8c.6316C>A (p.Gln2106Lys)
c.6211C>A (p.Gln2071Lys)
Xg.154896192delCA2695237833F8c.6316del (p.Gln2106ArgfsTer?)
c.6211del (p.Gln2071ArgfsTer?)
Xg.154896191G>ACA519352885F8c.6315C>T (p.Thr2105=)
c.6210C>T (p.Thr2070=)
Xg.154896191G>CCA519352887F8c.6315C>G (p.Thr2105=)
c.6210C>G (p.Thr2070=)
Xg.154896191G>TCA519352889F8c.6315C>A (p.Thr2105=)
c.6210C>A (p.Thr2070=)
Xg.154896192G>ACA414900100F8c.6314C>T (p.Thr2105Ile)
c.6209C>T (p.Thr2070Ile)
 gnomAD v4
Xg.154896192G>CCA414900103F8c.6314C>G (p.Thr2105Ser)
c.6209C>G (p.Thr2070Ser)
Xg.154896192G>TCA414900106F8c.6314C>A (p.Thr2105Asn)
c.6209C>A (p.Thr2070Asn)
Xg.154896193T>ACA414900108F8c.6313A>T (p.Thr2105Ser)
c.6208A>T (p.Thr2070Ser)
Xg.154896193T>CCA414900111F8c.6313A>G (p.Thr2105Ala)
c.6208A>G (p.Thr2070Ala)
Xg.154896193T>GCA414900114F8c.6313A>C (p.Thr2105Pro)
c.6208A>C (p.Thr2070Pro)
Xg.154896194C>ACA414900117F8c.6312G>T (p.Lys2104Asn)
c.6207G>T (p.Lys2069Asn)
Xg.154896194C>GCA414900116F8c.6312G>C (p.Lys2104Asn)
c.6207G>C (p.Lys2069Asn)
Xg.154896194C>TCA519352906F8c.6312G>A (p.Lys2104=)
c.6207G>A (p.Lys2069=)
Xg.154896194dupCA2695237834F8c.6312dup (p.Thr2105AspfsTer21)
c.6207dup (p.Thr2070AspfsTer21)
Xg.154896195T>ACA414900118F8c.6311A>T (p.Lys2104Met)
c.6206A>T (p.Lys2069Met)
Xg.154896195T>CCA414900120F8c.6311A>G (p.Lys2104Arg)
c.6206A>G (p.Lys2069Arg)
Xg.154896195T>GCA414900121F8c.6311A>C (p.Lys2104Thr)
c.6206A>C (p.Lys2069Thr)
Xg.154896196T>ACA414900126F8c.6310A>T (p.Lys2104Ter)
c.6205A>T (p.Lys2069Ter)
Xg.154896196T>CCA414900137F8c.6310A>G (p.Lys2104Glu)
c.6205A>G (p.Lys2069Glu)
Xg.154896196T>GCA414900139F8c.6310A>C (p.Lys2104Gln)
c.6205A>C (p.Lys2069Gln)
Xg.154896197G>ACA519352920F8c.6309C>T (p.Ile2103=)
c.6204C>T (p.Ile2068=)
Xg.154896197G>CCA414900143F8c.6309C>G (p.Ile2103Met)
c.6204C>G (p.Ile2068Met)
Xg.154896197G>TCA519352923F8c.6309C>A (p.Ile2103=)
c.6204C>A (p.Ile2068=)
Xg.154896198A>CCA414900148F8c.6308T>G (p.Ile2103Ser)
c.6203T>G (p.Ile2068Ser)
Xg.154896198A>GCA414900150F8c.6308T>C (p.Ile2103Thr)
c.6203T>C (p.Ile2068Thr)
Xg.154896198A>TCA414900151F8c.6308T>A (p.Ile2103Asn)
c.6203T>A (p.Ile2068Asn)
Xg.154896199T>ACA414900158F8c.6307A>T (p.Ile2103Phe)
c.6202A>T (p.Ile2068Phe)
Xg.154896199T>CCA10567872F8c.6307A>G (p.Ile2103Val)
c.6202A>G (p.Ile2068Val)
 dbSNP ExAC gnomAD v2
Xg.154896199T>GCA414900155F8c.6307A>C (p.Ile2103Leu)
c.6202A>C (p.Ile2068Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896199T=CA2466826039F8c.6307A= (p.Ile2103=)
c.6202A= (p.Ile2068=)
Xg.154896200G>ACA519352934F8c.6306C>T (p.Gly2102=)
c.6201C>T (p.Gly2067=)
Xg.154896200G>CCA519352939F8c.6306C>G (p.Gly2102=)
c.6201C>G (p.Gly2067=)
Xg.154896200G>TCA519352937F8c.6306C>A (p.Gly2102=)
c.6201C>A (p.Gly2067=)
Xg.154896201C>ACA414900167F8c.6305G>T (p.Gly2102Val)
c.6200G>T (p.Gly2067Val)
Xg.154896201C>GCA414900170F8c.6305G>C (p.Gly2102Ala)
c.6200G>C (p.Gly2067Ala)
Xg.154896201C>TCA414900171F8c.6305G>A (p.Gly2102Asp)
c.6200G>A (p.Gly2067Asp)
 ClinVar dbSNP
Xg.154896202C>ACA414900172F8c.6304G>T (p.Gly2102Cys)
c.6199G>T (p.Gly2067Cys)
Xg.154896202C=CA2466826040F8c.6304G= (p.Gly2102=)
c.6199G= (p.Gly2067=)
Xg.154896202C>GCA414900174F8c.6304G>C (p.Gly2102Arg)
c.6199G>C (p.Gly2067Arg)
Xg.154896202C>TCA10567873F8c.6304G>A (p.Gly2102Ser)
c.6199G>A (p.Gly2067Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896203G>ACA10567874F8c.6303C>T (p.His2101=)
c.6198C>T (p.His2066=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896203G>CCA414900184F8c.6303C>G (p.His2101Gln)
c.6198C>G (p.His2066Gln)
Xg.154896203G=CA2466826041F8c.6303C= (p.His2101=)
c.6198C= (p.His2066=)
Xg.154896203G>TCA414900195F8c.6303C>A (p.His2101Gln)
c.6198C>A (p.His2066Gln)
Xg.154896204T>ACA414900201F8c.6302A>T (p.His2101Leu)
c.6197A>T (p.His2066Leu)
Xg.154896204T>CCA10567875F8c.6302A>G (p.His2101Arg)
c.6197A>G (p.His2066Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896204T>GCA414900211F8c.6302A>C (p.His2101Pro)
c.6197A>C (p.His2066Pro)
Xg.154896204T=CA2466826042F8c.6302A= (p.His2101=)
c.6197A= (p.His2066=)
Xg.154896205G>ACA414900216F8c.6301C>T (p.His2101Tyr)
c.6196C>T (p.His2066Tyr)
Xg.154896205G>CCA414900220F8c.6301C>G (p.His2101Asp)
c.6196C>G (p.His2066Asp)
 ClinVar dbSNP
Xg.154896205G=CA2466826043F8c.6301C= (p.His2101=)
c.6196C= (p.His2066=)
Xg.154896205G>TCA414900218F8c.6301C>A (p.His2101Asn)
c.6196C>A (p.His2066Asn)
Xg.154896206A=CA2466826044F8c.6300T= (p.Ile2100=)
c.6195T= (p.Ile2065=)
Xg.154896206A>CCA414900221F8c.6300T>G (p.Ile2100Met)
c.6195T>G (p.Ile2065Met)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896206A>GCA519352969F8c.6300T>C (p.Ile2100=)
c.6195T>C (p.Ile2065=)
Xg.154896206A>TCA519352971F8c.6300T>A (p.Ile2100=)
c.6195T>A (p.Ile2065=)
Xg.154896209_154896211delCA2695237835F8c.6298_6300del (p.Ile2100del)
c.6193_6195del (p.Ile2065del)
Xg.154896207A>CCA414900226F8c.6299T>G (p.Ile2100Ser)
c.6194T>G (p.Ile2065Ser)
Xg.154896207A>GCA414900240F8c.6299T>C (p.Ile2100Thr)
c.6194T>C (p.Ile2065Thr)
 ClinVar
Xg.154896207A>TCA414900242F8c.6299T>A (p.Ile2100Asn)
c.6194T>A (p.Ile2065Asn)
Xg.154896208T>ACA414900248F8c.6298A>T (p.Ile2100Phe)
c.6193A>T (p.Ile2065Phe)
 gnomAD v4
Xg.154896208T>CCA414900252F8c.6298A>G (p.Ile2100Val)
c.6193A>G (p.Ile2065Val)
Xg.154896208T>GCA414900255F8c.6298A>C (p.Ile2100Leu)
c.6193A>C (p.Ile2065Leu)
Xg.154896208_154896210delinsTAACA2466826045F8c.6296_6298delinsTTA (p.Ile2099=)
c.6191_6193delinsTTA (p.Ile2064=)
Xg.154896209A>CCA414900260F8c.6297T>G (p.Ile2099Met)
c.6192T>G (p.Ile2064Met)
Xg.154896209A>GCA519352981F8c.6297T>C (p.Ile2099=)
c.6192T>C (p.Ile2064=)
Xg.154896209A>TCA519352982F8c.6297T>A (p.Ile2099=)
c.6192T>A (p.Ile2064=)
Xg.154896209_154896210delCA873338068F8c.6296_6297del (p.Ile2099AsnfsTer26)
c.6191_6192del (p.Ile2064AsnfsTer26)
 dbSNP
Xg.154896210A=CA2466826046F8c.6296T= (p.Ile2099=)
c.6191T= (p.Ile2064=)
Xg.154896210A>CCA414900264F8c.6296T>G (p.Ile2099Ser)
c.6191T>G (p.Ile2064Ser)
Xg.154896210A>GCA414900272F8c.6296T>C (p.Ile2099Thr)
c.6191T>C (p.Ile2064Thr)
Xg.154896210A>TCA414900273F8c.6296T>A (p.Ile2099Asn)
c.6191T>A (p.Ile2064Asn)
 ClinVar dbSNP gnomAD v4
Xg.154896211delCA2695237836F8c.6295del (p.Ile2099LeufsTer?)
c.6190del (p.Ile2064LeufsTer?)
Xg.154896211T>ACA414900283F8c.6295A>T (p.Ile2099Phe)
c.6190A>T (p.Ile2064Phe)
Xg.154896211T>CCA414900285F8c.6295A>G (p.Ile2099Val)
c.6190A>G (p.Ile2064Val)
Xg.154896211T>GCA414900278F8c.6295A>C (p.Ile2099Leu)
c.6190A>C (p.Ile2064Leu)

Number of alleles fetched