Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154896209_154896211delCA2695237835F8c.6298_6300del (p.Ile2100del)
c.6193_6195del (p.Ile2065del)
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)
Xg.154896212C>ACA414900287F8c.6294G>T (p.Met2098Ile)
c.6189G>T (p.Met2063Ile)
 COSMIC COSMIC
Xg.154896212C>GCA414900297F8c.6294G>C (p.Met2098Ile)
c.6189G>C (p.Met2063Ile)
Xg.154896212C>TCA414900298F8c.6294G>A (p.Met2098Ile)
c.6189G>A (p.Met2063Ile)
Xg.154896213A>CCA414900301F8c.6293T>G (p.Met2098Arg)
c.6188T>G (p.Met2063Arg)
Xg.154896213A>GCA414900302F8c.6293T>C (p.Met2098Thr)
c.6188T>C (p.Met2063Thr)
Xg.154896213A>TCA414900303F8c.6293T>A (p.Met2098Lys)
c.6188T>A (p.Met2063Lys)
Xg.154896214T>ACA414900306F8c.6292A>T (p.Met2098Leu)
c.6187A>T (p.Met2063Leu)
Xg.154896214T>CCA414900309F8c.6292A>G (p.Met2098Val)
c.6187A>G (p.Met2063Val)
Xg.154896214T>GCA414900311F8c.6292A>C (p.Met2098Leu)
c.6187A>C (p.Met2063Leu)
Xg.154896215T>ACA519352984F8c.6291A>T (p.Pro2097=)
c.6186A>T (p.Pro2062=)
Xg.154896215T>CCA519352985F8c.6291A>G (p.Pro2097=)
c.6186A>G (p.Pro2062=)
Xg.154896215T>GCA519352986F8c.6291A>C (p.Pro2097=)
c.6186A>C (p.Pro2062=)
Xg.154896215_154896221delinsCACCTACCAATTACA2695237837F8c.6285_6291delinsTAATTGGTAGGTG (p.Leu2095PhefsTer4)
c.6180_6186delinsTAATTGGTAGGTG (p.Leu2060PhefsTer4)
Xg.154896216G>ACA414900314F8c.6290C>T (p.Pro2097Leu)
c.6185C>T (p.Pro2062Leu)
Xg.154896216G>CCA414900316F8c.6290C>G (p.Pro2097Arg)
c.6185C>G (p.Pro2062Arg)
Xg.154896216G>TCA414900319F8c.6290C>A (p.Pro2097Gln)
c.6185C>A (p.Pro2062Gln)
Xg.154896217G>ACA414900331F8c.6289C>T (p.Pro2097Ser)
c.6184C>T (p.Pro2062Ser)
Xg.154896217G>CCA414900327F8c.6289C>G (p.Pro2097Ala)
c.6184C>G (p.Pro2062Ala)
 dbSNP
Xg.154896217G=CA2466826047F8c.6289C= (p.Pro2097=)
c.6184C= (p.Pro2062=)
Xg.154896217G>TCA414900324F8c.6289C>A (p.Pro2097Thr)
c.6184C>A (p.Pro2062Thr)
Xg.154896218T>ACA519352988F8c.6288A>T (p.Ala2096=)
c.6183A>T (p.Ala2061=)
Xg.154896218T>CCA519352989F8c.6288A>G (p.Ala2096=)
c.6183A>G (p.Ala2061=)
Xg.154896218T>GCA519352990F8c.6288A>C (p.Ala2096=)
c.6183A>C (p.Ala2061=)
Xg.154896219G>ACA414900338F8c.6287C>T (p.Ala2096Val)
c.6182C>T (p.Ala2061Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.154896219G>CCA414900342F8c.6287C>G (p.Ala2096Gly)
c.6182C>G (p.Ala2061Gly)
Xg.154896219G=CA2466826048F8c.6287C= (p.Ala2096=)
c.6182C= (p.Ala2061=)
Xg.154896219G>TCA414900345F8c.6287C>A (p.Ala2096Glu)
c.6182C>A (p.Ala2061Glu)
Xg.154896220C>ACA414900350F8c.6286G>T (p.Ala2096Ser)
c.6181G>T (p.Ala2061Ser)
Xg.154896220C=CA2466826049F8c.6286G= (p.Ala2096=)
c.6181G= (p.Ala2061=)
Xg.154896220C>GCA414900354F8c.6286G>C (p.Ala2096Pro)
c.6181G>C (p.Ala2061Pro)
Xg.154896220C>TCA337315961F8c.6286G>A (p.Ala2096Thr)
c.6181G>A (p.Ala2061Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896221C>ACA414900363F8c.6285G>T (p.Leu2095Phe)
c.6180G>T (p.Leu2060Phe)
Xg.154896221C>GCA414900366F8c.6285G>C (p.Leu2095Phe)
c.6180G>C (p.Leu2060Phe)
Xg.154896221C>TCA519352992F8c.6285G>A (p.Leu2095=)
c.6180G>A (p.Leu2060=)
Xg.154896222A>CCA414900370F8c.6284T>G (p.Leu2095Trp)
c.6179T>G (p.Leu2060Trp)
Xg.154896222A>GCA414900371F8c.6284T>C (p.Leu2095Ser)
c.6179T>C (p.Leu2060Ser)
Xg.154896222A>TCA414900372F8c.6284T>A (p.Leu2095Ter)
c.6179T>A (p.Leu2060Ter)
Xg.154896222_154896223insTCA2695237838F8c.6283_6284insA (p.Leu2095TyrfsTer?)
c.6178_6179insA (p.Leu2060TyrfsTer?)
Xg.154896223A>CCA414900373F8c.6283T>G (p.Leu2095Val)
c.6178T>G (p.Leu2060Val)
Xg.154896223A>GCA519352993F8c.6283T>C (p.Leu2095=)
c.6178T>C (p.Leu2060=)
Xg.154896223A>TCA414900374F8c.6283T>A (p.Leu2095Met)
c.6178T>A (p.Leu2060Met)
Xg.154896224C>ACA519352995F8c.6282G>T (p.Leu2094=)
c.6177G>T (p.Leu2059=)
Xg.154896224C>GCA519352996F8c.6282G>C (p.Leu2094=)
c.6177G>C (p.Leu2059=)
Xg.154896224C>TCA519352997F8c.6282G>A (p.Leu2094=)
c.6177G>A (p.Leu2059=)
Xg.154896225A>CCA414900376F8c.6281T>G (p.Leu2094Arg)
c.6176T>G (p.Leu2059Arg)
Xg.154896225A>GCA414900378F8c.6281T>C (p.Leu2094Pro)
c.6176T>C (p.Leu2059Pro)
Xg.154896225A>TCA414900375F8c.6281T>A (p.Leu2094Gln)
c.6176T>A (p.Leu2059Gln)
Xg.154896226G>ACA519352999F8c.6280C>T (p.Leu2094=)
c.6175C>T (p.Leu2059=)
Xg.154896226G>CCA414900379F8c.6280C>G (p.Leu2094Val)
c.6175C>G (p.Leu2059Val)
Xg.154896226G>TCA414900382F8c.6280C>A (p.Leu2094Met)
c.6175C>A (p.Leu2059Met)
Xg.154896227A>CCA414900386F8c.6279T>G (p.Asp2093Glu)
c.6174T>G (p.Asp2058Glu)
Xg.154896227A>GCA519353000F8c.6279T>C (p.Asp2093=)
c.6174T>C (p.Asp2058=)
Xg.154896227A>TCA414900389F8c.6279T>A (p.Asp2093Glu)
c.6174T>A (p.Asp2058Glu)
Xg.154896228T>ACA414900400F8c.6278A>T (p.Asp2093Val)
c.6173A>T (p.Asp2058Val)
 ClinVar dbSNP
Xg.154896228T>CCA255201F8c.6278A>G (p.Asp2093Gly)
c.6173A>G (p.Asp2058Gly)
 ClinVar dbSNP
Xg.154896228T>GCA414900406F8c.6278A>C (p.Asp2093Ala)
c.6173A>C (p.Asp2058Ala)
Xg.154896228T=CA2466826050F8c.6278A= (p.Asp2093=)
c.6173A= (p.Asp2058=)
Xg.154896229C>ACA414900407F8c.6277G>T (p.Asp2093Tyr)
c.6172G>T (p.Asp2058Tyr)
 dbSNP
Xg.154896229C=CA2466826051F8c.6277G= (p.Asp2093=)
c.6172G= (p.Asp2058=)
Xg.154896229C>GCA414900408F8c.6277G>C (p.Asp2093His)
c.6172G>C (p.Asp2058His)
 dbSNP
Xg.154896229C>TCA414900410F8c.6277G>A (p.Asp2093Asn)
c.6172G>A (p.Asp2058Asn)
Xg.154896230C>ACA519353003F8c.6276G>T (p.Val2092=)
c.6171G>T (p.Val2057=)
Xg.154896230C=CA2466826052F8c.6276G= (p.Val2092=)
c.6171G= (p.Val2057=)
Xg.154896230C>GCA519353002F8c.6276G>C (p.Val2092=)
c.6171G>C (p.Val2057=)
Xg.154896230C>TCA10567876F8c.6276G>A (p.Val2092=)
c.6171G>A (p.Val2057=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896231A=CA2466826053F8c.6275T= (p.Val2092=)
c.6170T= (p.Val2057=)
Xg.154896231A>CCA414900425F8c.6275T>G (p.Val2092Gly)
c.6170T>G (p.Val2057Gly)
 dbSNP
Xg.154896231A>GCA414900424F8c.6275T>C (p.Val2092Ala)
c.6170T>C (p.Val2057Ala)
Xg.154896231A>TCA414900416F8c.6275T>A (p.Val2092Glu)
c.6170T>A (p.Val2057Glu)
Xg.154896232C>ACA414900426F8c.6274G>T (p.Val2092Leu)
c.6169G>T (p.Val2057Leu)
Xg.154896232C>GCA414900427F8c.6274G>C (p.Val2092Leu)
c.6169G>C (p.Val2057Leu)
Xg.154896232C>TCA414900429F8c.6274G>A (p.Val2092Met)
c.6169G>A (p.Val2057Met)
Xg.154896233C>ACA414900433F8c.6274-1G>T (n.6274-1G>T)
c.6169-1G>T (n.6169-1G>T)
 dbSNP COSMIC COSMIC
Xg.154896233C=CA2466826054F8c.6274-1G= (n.6274-1G=)
c.6169-1G= (n.6169-1G=)
Xg.154896233C>GCA414900434F8c.6274-1G>C (n.6274-1G>C)
c.6169-1G>C (n.6169-1G>C)
Xg.154896233C>TCA414900436F8c.6274-1G>A (n.6274-1G>A)
c.6169-1G>A (n.6169-1G>A)
 dbSNP
Xg.154896234T>ACA414900442F8c.6274-2A>T (n.6274-2A>T)
c.6169-2A>T (n.6169-2A>T)
Xg.154896234T>CCA414900446F8c.6274-2A>G (n.6274-2A>G)
c.6169-2A>G (n.6169-2A>G)
 ClinVar
Xg.154896234T>GCA414900447F8c.6274-2A>C (n.6274-2A>C)
c.6169-2A>C (n.6169-2A>C)
Xg.154896235A>GCA2579744401F8c.6274-3T>C (n.6274-3T>C)
c.6169-3T>C (n.6169-3T>C)
 gnomAD v4
Xg.154896237C>ACA873338099F8c.6274-5G>T (n.6274-5G>T)
c.6169-5G>T (n.6169-5G>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896237C=CA2466826055F8c.6274-5G= (n.6274-5G=)
c.6169-5G= (n.6169-5G=)
Xg.154896237C>GCA10567877F8c.6274-5G>C (n.6274-5G>C)
c.6169-5G>C (n.6169-5G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896237C>TCA2695237839F8c.6274-5G>A (n.6274-5G>A)
c.6169-5G>A (n.6169-5G>A)
Xg.154896239A=CA2466826056F8c.6274-7T= (n.6274-7T=)
c.6169-7T= (n.6169-7T=)
Xg.154896239A>TCA645251428F8c.6274-7T>A (n.6274-7T>A)
c.6169-7T>A (n.6169-7T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896240T>CCA2466826057F8c.6274-8A>G (n.6274-8A>G)
c.6169-8A>G (n.6169-8A>G)
 dbSNP
Xg.154896240T=CA2466826058F8c.6274-8A= (n.6274-8A=)
c.6169-8A= (n.6169-8A=)
Xg.154896245A=CA2466826059F8c.6274-13T= (n.6274-13T=)
c.6169-13T= (n.6169-13T=)
Xg.154896245A>CCA2466826060F8c.6274-13T>G (n.6274-13T>G)
c.6169-13T>G (n.6169-13T>G)
 dbSNP
Xg.154896249delCA2695152049F8c.6274-17del (n.6274-17del)
c.6169-17del (n.6169-17del)
 gnomAD v4
Xg.154896249C>TCA2695152051F8c.6274-17G>A (n.6274-17G>A)
c.6169-17G>A (n.6169-17G>A)
 gnomAD v4
Xg.154896251C>GCA2695152053F8c.6274-19G>C (n.6274-19G>C)
c.6169-19G>C (n.6169-19G>C)
 gnomAD v4
Xg.154896252T>GCA2466826062F8c.6274-20A>C (n.6274-20A>C)
c.6169-20A>C (n.6169-20A>C)
 dbSNP
Xg.154896252T=CA2466826061F8c.6274-20A= (n.6274-20A=)
c.6169-20A= (n.6169-20A=)
Xg.154896252_154896253insGCA2695152054F8c.6274-21_6274-20insC (n.6274-21_6274-20insC)
c.6169-21_6169-20insC (n.6169-21_6169-20insC)
 gnomAD v4
Xg.154896254T>CCA1138595800F8c.6274-22A>G (n.6274-22A>G)
c.6169-22A>G (n.6169-22A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896254T=CA2466826063F8c.6274-22A= (n.6274-22A=)
c.6169-22A= (n.6169-22A=)
Xg.154896259delCA2695152055F8c.6274-24del (n.6274-24del)
c.6169-24del (n.6169-24del)
 gnomAD v4
Xg.154896258T>GCA873338100F8c.6274-26A>C (n.6274-26A>C)
c.6169-26A>C (n.6169-26A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896258T=CA2466826064F8c.6274-26A= (n.6274-26A=)
c.6169-26A= (n.6169-26A=)
Xg.154896262_154896265delCA2695152056F8c.6274-32_6274-29del (n.6274-32_6274-29del)
c.6169-32_6169-29del (n.6169-32_6169-29del)
 gnomAD v4
Xg.154896262C>TCA2695152057F8c.6274-30G>A (n.6274-30G>A)
c.6169-30G>A (n.6169-30G>A)
 gnomAD v4
Xg.154896262_154896267delCA2830563604F8c.6274-35_6274-30del (n.6274-35_6274-30del)
c.6169-35_6169-30del (n.6169-35_6169-30del)
Xg.154896263C=CA2466826065F8c.6274-31G= (n.6274-31G=)
c.6169-31G= (n.6169-31G=)
Xg.154896263C>GCA2695152058F8c.6274-31G>C (n.6274-31G>C)
c.6169-31G>C (n.6169-31G>C)
 gnomAD v4
Xg.154896263C>TCA2466826066F8c.6274-31G>A (n.6274-31G>A)
c.6169-31G>A (n.6169-31G>A)
 dbSNP gnomAD v4
Xg.154896264T>ACA2579744402F8c.6274-32A>T (n.6274-32A>T)
c.6169-32A>T (n.6169-32A>T)
Xg.154896264T>GCA873338101F8c.6274-32A>C (n.6274-32A>C)
c.6169-32A>C (n.6169-32A>C)
 dbSNP gnomAD v4
Xg.154896264T=CA2466826067F8c.6274-32A= (n.6274-32A=)
c.6169-32A= (n.6169-32A=)
Xg.154896265A=CA2466826068F8c.6274-33T= (n.6274-33T=)
c.6169-33T= (n.6169-33T=)
Xg.154896265A>GCA10567878F8c.6274-33T>C (n.6274-33T>C)
c.6169-33T>C (n.6169-33T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896266T>ACA2695152063F8c.6274-34A>T (n.6274-34A>T)
c.6169-34A>T (n.6169-34A>T)
 gnomAD v4
Xg.154896270delCA2695152061F8c.6274-34del (n.6274-34del)
c.6169-34del (n.6169-34del)
 gnomAD v4
Xg.154896267T>ACA1138595802F8c.6274-35A>T (n.6274-35A>T)
c.6169-35A>T (n.6169-35A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896267T=CA2466826069F8c.6274-35A= (n.6274-35A=)
c.6169-35A= (n.6169-35A=)
Xg.154896269_154896270insGGCA2830563605F8c.6274-38_6274-37insCC (n.6274-38_6274-37insCC)
c.6169-38_6169-37insCC (n.6169-38_6169-37insCC)
Xg.154896270T>ACA2695152064F8c.6274-38A>T (n.6274-38A>T)
c.6169-38A>T (n.6169-38A>T)
 gnomAD v4
Xg.154896272A>GCA2695152065F8c.6274-40T>C (n.6274-40T>C)
c.6169-40T>C (n.6169-40T>C)
 gnomAD v4
Xg.154896274T>GCA2579744403F8c.6274-42A>C (n.6274-42A>C)
c.6169-42A>C (n.6169-42A>C)
Xg.154896275G>TCA2695152066F8c.6274-43C>A (n.6274-43C>A)
c.6169-43C>A (n.6169-43C>A)
 gnomAD v4
Xg.154896276T>ACA2579744404F8c.6274-44A>T (n.6274-44A>T)
c.6169-44A>T (n.6169-44A>T)
Xg.154896278T>CCA2695152067F8c.6274-46A>G (n.6274-46A>G)
c.6169-46A>G (n.6169-46A>G)
 gnomAD v4
Xg.154896278T>GCA2466826071F8c.6274-46A>C (n.6274-46A>C)
c.6169-46A>C (n.6169-46A>C)
 dbSNP
Xg.154896278T=CA2466826070F8c.6274-46A= (n.6274-46A=)
c.6169-46A= (n.6169-46A=)
Xg.154896279G>CCA2466826073F8c.6274-47C>G (n.6274-47C>G)
c.6169-47C>G (n.6169-47C>G)
 dbSNP
Xg.154896279G=CA2466826072F8c.6274-47C= (n.6274-47C=)
c.6169-47C= (n.6169-47C=)
Xg.154896279G>TCA2695152068F8c.6274-47C>A (n.6274-47C>A)
c.6169-47C>A (n.6169-47C>A)
 gnomAD v4
Xg.154896281G>ACA2695152070F8c.6274-49C>T (n.6274-49C>T)
c.6169-49C>T (n.6169-49C>T)
 gnomAD v4
Xg.154896281G>TCA2695152069F8c.6274-49C>A (n.6274-49C>A)
c.6169-49C>A (n.6169-49C>A)
 gnomAD v4
Xg.154896282C>TCA2695152071F8c.6274-50G>A (n.6274-50G>A)
c.6169-50G>A (n.6169-50G>A)
 gnomAD v4
Xg.154896283delCA2695152072F8c.6274-51del (n.6274-51del)
c.6169-51del (n.6169-51del)
 gnomAD v4
Xg.154896290T>CCA2579744405F8c.6274-58A>G (n.6274-58A>G)
c.6169-58A>G (n.6169-58A>G)
 gnomAD v4
Xg.154896291G>TCA2695152075F8c.6274-59C>A (n.6274-59C>A)
c.6169-59C>A (n.6169-59C>A)
 gnomAD v4
Xg.154896294A>CCA2579744406F8c.6274-62T>G (n.6274-62T>G)
c.6169-62T>G (n.6169-62T>G)
Xg.154896295C>ACA2695152076F8c.6274-63G>T (n.6274-63G>T)
c.6169-63G>T (n.6169-63G>T)
 gnomAD v4
Xg.154896295_154896299delinsCTAATCA2466826074F8c.6274-67_6274-63delinsATTAG (n.6274-67_6274-63delinsATTAG)
c.6169-67_6169-63delinsATTAG (n.6169-67_6169-63delinsATTAG)
Xg.154896296T>CCA2824314676F8c.6274-64A>G (n.6274-64A>G)
c.6169-64A>G (n.6169-64A>G)
Xg.154896298_154896301delCA873338106F8c.6274-67_6274-64del (n.6274-67_6274-64del)
c.6169-67_6169-64del (n.6169-67_6169-64del)
 dbSNP gnomAD v3 gnomAD v4
Xg.154896297A>GCA2695152079F8c.6274-65T>C (n.6274-65T>C)
c.6169-65T>C (n.6169-65T>C)
 gnomAD v4
Xg.154896302T>CCA2695152081F8c.6274-70A>G (n.6274-70A>G)
c.6169-70A>G (n.6169-70A>G)
 gnomAD v4
Xg.154896303T>ACA2579744407F8c.6274-71A>T (n.6274-71A>T)
c.6169-71A>T (n.6169-71A>T)
Xg.154896304A=CA2466826075F8c.6274-72T= (n.6274-72T=)
c.6169-72T= (n.6169-72T=)
Xg.154896304A>GCA337315996F8c.6274-72T>C (n.6274-72T>C)
c.6169-72T>C (n.6169-72T>C)
 dbSNP gnomAD v4
Xg.154896305G>TCA2695152083F8c.6274-73C>A (n.6274-73C>A)
c.6169-73C>A (n.6169-73C>A)
 gnomAD v4
Xg.154896306C>GCA2824314677F8c.6274-74G>C (n.6274-74G>C)
c.6169-74G>C (n.6169-74G>C)
Xg.154896310_154896328delCA2695152085F8c.6274-94_6274-76del (n.6274-94_6274-76del)
c.6169-94_6169-76del (n.6169-94_6169-76del)
 gnomAD v4

Number of alleles fetched