Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919428C>ACA397459681MC1Rc.170C>A (p.Ala57Glu)
dbSNP gnomAD v3 gnomAD v4
16g.89919428C=CA2242009367MC1Rc.170C= (p.Ala57=)
16g.89919428C>GCA397459684MC1Rc.170C>G (p.Ala57Gly)
16g.89919428C>TCA8255513MC1Rc.170C>T (p.Ala57Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919429G>ACA8255514MC1Rc.171G>A (p.Ala57=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919429G>CCA497380910MC1Rc.171G>C (p.Ala57=)
16g.89919429G=CA2242009368MC1Rc.171G= (p.Ala57=)
16g.89919429G>TCA497380911MC1Rc.171G>T (p.Ala57=)
dbSNP gnomAD v4
16g.89919430C>ACA397459691MC1Rc.172C>A (p.Leu58Met)
16g.89919430C>GCA397459694MC1Rc.172C>G (p.Leu58Val)
16g.89919430C>TCA497380912MC1Rc.172C>T (p.Leu58=)
16g.89919431T>ACA397459702MC1Rc.173T>A (p.Leu58Gln)
16g.89919431T>CCA397459698MC1Rc.173T>C (p.Leu58Pro)
gnomAD v4
16g.89919431T>GCA397459700MC1Rc.173T>G (p.Leu58Arg)
16g.89919432G>ACA497380913MC1Rc.174G>A (p.Leu58=)
16g.89919432G>CCA497380914MC1Rc.174G>C (p.Leu58=)
16g.89919432G>TCA497380915MC1Rc.174G>T (p.Leu58=)
16g.89919433G>ACA397459704MC1Rc.175G>A (p.Val59Met)
dbSNP gnomAD v2 gnomAD v4
16g.89919433G>CCA397459720MC1Rc.175G>C (p.Val59Leu)
16g.89919433G=CA2242009369MC1Rc.175G= (p.Val59=)
16g.89919433G>TCA397459722MC1Rc.175G>T (p.Val59Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919434T>ACA397459726MC1Rc.176T>A (p.Val59Glu)
16g.89919434T>CCA397459729MC1Rc.176T>C (p.Val59Ala)
gnomAD v4
16g.89919434T>GCA397459731MC1Rc.176T>G (p.Val59Gly)
16g.89919435G>ACA497380916MC1Rc.177G>A (p.Val59=)
16g.89919435G>CCA497380918MC1Rc.177G>C (p.Val59=)
gnomAD v4
16g.89919435G>TCA497380917MC1Rc.177G>T (p.Val59=)
16g.89919436G>ACA397459733MC1Rc.178G>A (p.Val60Met)
16g.89919436G>CCA397459735MC1Rc.178G>C (p.Val60Leu)
16g.89919436G=CA2242009370MC1Rc.178G= (p.Val60=)
16g.89919436G>TCA123869MC1Rc.178G>T (p.Val60Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919437T>ACA397459737MC1Rc.179T>A (p.Val60Glu)
dbSNP gnomAD v2
16g.89919437T>CCA397459745MC1Rc.179T>C (p.Val60Ala)
16g.89919437T>GCA397459747MC1Rc.179T>G (p.Val60Gly)
16g.89919437T=CA2242009371MC1Rc.179T= (p.Val60=)
16g.89919438G>ACA497380919MC1Rc.180G>A (p.Val60=)
16g.89919438G>CCA497380920MC1Rc.180G>C (p.Val60=)
16g.89919438G>TCA497380921MC1Rc.180G>T (p.Val60=)
16g.89919439delCA2635065248MC1Rc.181del (p.Ala61ProfsTer27)
gnomAD v4
16g.89919439G>ACA397459756MC1Rc.181G>A (p.Ala61Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919439G>CCA397459755MC1Rc.181G>C (p.Ala61Pro)
16g.89919439G=CA2242009372MC1Rc.181G= (p.Ala61=)
16g.89919439G>TCA397459749MC1Rc.181G>T (p.Ala61Ser)
gnomAD v4
16g.89919443_89919451delCA2635065251MC1Rc.185_193del (p.Thr62_Ala64del)
ClinVar gnomAD v4
16g.89919440C>ACA397459758MC1Rc.182C>A (p.Ala61Asp)
16g.89919440C>GCA397459760MC1Rc.182C>G (p.Ala61Gly)
16g.89919440C>TCA397459763MC1Rc.182C>T (p.Ala61Val)
gnomAD v4
16g.89919441C>ACA497380922MC1Rc.183C>A (p.Ala61=)
16g.89919441C>GCA497380923MC1Rc.183C>G (p.Ala61=)
16g.89919441C>TCA497380924MC1Rc.183C>T (p.Ala61=)
gnomAD v4
16g.89919442A=CA2242009373MC1Rc.184A= (p.Thr62=)
16g.89919442A>CCA397459766MC1Rc.184A>C (p.Thr62Pro)
dbSNP
16g.89919442A>GCA397459768MC1Rc.184A>G (p.Thr62Ala)
16g.89919442A>TCA397459771MC1Rc.184A>T (p.Thr62Ser)
16g.89919443C>ACA397459774MC1Rc.185C>A (p.Thr62Asn)
16g.89919443C=CA2242009374MC1Rc.185C= (p.Thr62=)
16g.89919443C>GCA397459776MC1Rc.185C>G (p.Thr62Ser)
16g.89919443C>TCA286607413MC1Rc.185C>T (p.Thr62Ile)
dbSNP gnomAD v4
16g.89919444C>ACA497380925MC1Rc.186C>A (p.Thr62=)
16g.89919444C=CA2242009375MC1Rc.186C= (p.Thr62=)
16g.89919444C>GCA497380926MC1Rc.186C>G (p.Thr62=)
16g.89919444C>TCA8255515MC1Rc.186C>T (p.Thr62=)
dbSNP ExAC gnomAD v2
16g.89919445A=CA2242009376MC1Rc.187A= (p.Ile63=)
16g.89919445A>CCA397459782MC1Rc.187A>C (p.Ile63Leu)
16g.89919445A>GCA8255516MC1Rc.187A>G (p.Ile63Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919445A>TCA397459784MC1Rc.187A>T (p.Ile63Phe)
16g.89919446T>ACA397459787MC1Rc.188T>A (p.Ile63Asn)
16g.89919446T>CCA397459788MC1Rc.188T>C (p.Ile63Thr)
ClinVar dbSNP gnomAD v4
16g.89919446T>GCA397459785MC1Rc.188T>G (p.Ile63Ser)
16g.89919446T=CA2242009378MC1Rc.188T= (p.Ile63=)
16g.89919448_89919449insTGGAGAACGCGCTGGTGGTGGCCACCGTCGCA2242009377MC1Rc.190_191insTGGAGAACGCGCTGGTGGTGGCCACCGTCG (p.Ile63_Ala64insValGluAsnAlaLeuValValAlaThrVal)
ClinVar dbSNP gnomAD v4
16g.89919447C>ACA497380927MC1Rc.189C>A (p.Ile63=)
16g.89919447C=CA2242009379MC1Rc.189C= (p.Ile63=)
16g.89919447C>GCA397459792MC1Rc.189C>G (p.Ile63Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919447C>TCA8255517MC1Rc.189C>T (p.Ile63=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919448G>ACA8255518MC1Rc.190G>A (p.Ala64Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919448G>CCA286607418MC1Rc.190G>C (p.Ala64Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919448G=CA2242009380MC1Rc.190G= (p.Ala64=)
16g.89919448G>TCA397459799MC1Rc.190G>T (p.Ala64Ser)
COSMIC
16g.89919449C>ACA397459800MC1Rc.191C>A (p.Ala64Asp)
16g.89919449C>GCA397459801MC1Rc.191C>G (p.Ala64Gly)
16g.89919449C>TCA397459802MC1Rc.191C>T (p.Ala64Val)
16g.89919450C>ACA497380928MC1Rc.192C>A (p.Ala64=)
16g.89919450C>GCA497380929MC1Rc.192C>G (p.Ala64=)
16g.89919450C>TCA497380930MC1Rc.192C>T (p.Ala64=)
gnomAD v4
16g.89919451A=CA2242009381MC1Rc.193A= (p.Lys65=)
16g.89919451A>CCA397459805MC1Rc.193A>C (p.Lys65Gln)
16g.89919451A>GCA397459808MC1Rc.193A>G (p.Lys65Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919451A>TCA397459811MC1Rc.193A>T (p.Lys65Ter)
16g.89919452A>CCA397459812MC1Rc.194A>C (p.Lys65Thr)
16g.89919452A>GCA397459813MC1Rc.194A>G (p.Lys65Arg)
16g.89919452A>TCA397459814MC1Rc.194A>T (p.Lys65Met)
16g.89919452_89919458delinsAGAACCGCA2242009382MC1Rc.194_200delinsAGAACCG (p.Lys65=)
16g.89919453G>ACA497380931MC1Rc.195G>A (p.Lys65=)
dbSNP
16g.89919453G>CCA286607420MC1Rc.195G>C (p.Lys65Asn)
dbSNP
16g.89919453G=CA2242009383MC1Rc.195G= (p.Lys65=)
16g.89919453G>TCA397459817MC1Rc.195G>T (p.Lys65Asn)
COSMIC
16g.89919458_89919463delCA624455318MC1Rc.200_205del (p.Arg67_Asn68del)
dbSNP gnomAD v2 gnomAD v4
16g.89919454A>CCA397459824MC1Rc.196A>C (p.Asn66His)
16g.89919454A>GCA397459830MC1Rc.196A>G (p.Asn66Asp)
16g.89919454A>TCA397459831MC1Rc.196A>T (p.Asn66Tyr)
16g.89919455A=CA2242009384MC1Rc.197A= (p.Asn66=)
16g.89919455A>CCA397459832MC1Rc.197A>C (p.Asn66Thr)
16g.89919455A>GCA397459833MC1Rc.197A>G (p.Asn66Ser)
16g.89919455A>TCA397459834MC1Rc.197A>T (p.Asn66Ile)
dbSNP gnomAD v3 gnomAD v4
16g.89919456C>ACA397459835MC1Rc.198C>A (p.Asn66Lys)
16g.89919456C=CA2242009385MC1Rc.198C= (p.Asn66=)
16g.89919456C>GCA397459836MC1Rc.198C>G (p.Asn66Lys)
16g.89919456C>TCA286607422MC1Rc.198C>T (p.Asn66=)
dbSNP
16g.89919457C>ACA497380932MC1Rc.199C>A (p.Arg67=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919457C=CA2242009386MC1Rc.199C= (p.Arg67=)
16g.89919457C>GCA397459838MC1Rc.199C>G (p.Arg67Gly)
16g.89919457C>TCA8255519MC1Rc.199C>T (p.Arg67Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919458G>ACA8255520MC1Rc.200G>A (p.Arg67Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919458G>CCA397459843MC1Rc.200G>C (p.Arg67Pro)
16g.89919458G=CA2242009387MC1Rc.200G= (p.Arg67=)
16g.89919458G>TCA397459846MC1Rc.200G>T (p.Arg67Leu)
16g.89919459delCA2576103990MC1Rc.201del (p.Asn68ThrfsTer20)
gnomAD v4
16g.89919459G>ACA497380933MC1Rc.201G>A (p.Arg67=)
dbSNP
16g.89919459G>CCA497380934MC1Rc.201G>C (p.Arg67=)
16g.89919459G>TCA497380935MC1Rc.201G>T (p.Arg67=)
16g.89919460A>CCA397459849MC1Rc.202A>C (p.Asn68His)
16g.89919460A>GCA397459853MC1Rc.202A>G (p.Asn68Asp)
gnomAD v4
16g.89919460A>TCA397459851MC1Rc.202A>T (p.Asn68Tyr)
16g.89919461A>CCA397459856MC1Rc.203A>C (p.Asn68Thr)
16g.89919461A>GCA397459864MC1Rc.203A>G (p.Asn68Ser)
16g.89919461A>TCA397459866MC1Rc.203A>T (p.Asn68Ile)
16g.89919462C>ACA397459867MC1Rc.204C>A (p.Asn68Lys)
16g.89919462C>GCA397459868MC1Rc.204C>G (p.Asn68Lys)
16g.89919462C>TCA497380936MC1Rc.204C>T (p.Asn68=)
16g.89919463C>ACA397459869MC1Rc.205C>A (p.Leu69Met)
16g.89919463C>GCA397459870MC1Rc.205C>G (p.Leu69Val)
ClinVar dbSNP
16g.89919463C>TCA497380937MC1Rc.205C>T (p.Leu69=)
16g.89919464T>ACA397459872MC1Rc.206T>A (p.Leu69Gln)
16g.89919464T>CCA397459873MC1Rc.206T>C (p.Leu69Pro)
16g.89919464T>GCA397459890MC1Rc.206T>G (p.Leu69Arg)
16g.89919465G>ACA8255522MC1Rc.207G>A (p.Leu69=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919465G>CCA497380938MC1Rc.207G>C (p.Leu69=)
ClinVar
16g.89919465G=CA2242009388MC1Rc.207G= (p.Leu69=)
16g.89919465G>TCA8255521MC1Rc.207G>T (p.Leu69=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919465_89919466delinsGCCA2242009389MC1Rc.207_208delinsGC (p.Leu69=)
16g.89919466delCA919769654MC1Rc.208del (p.His70ThrfsTer18)
dbSNP gnomAD v4
16g.89919466C>ACA397459900MC1Rc.208C>A (p.His70Asn)
16g.89919466C=CA2242009390MC1Rc.208C= (p.His70=)
16g.89919466C>GCA397459899MC1Rc.208C>G (p.His70Asp)
16g.89919466C>TCA8255523MC1Rc.208C>T (p.His70Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919467A=CA2242009391MC1Rc.209A= (p.His70=)
16g.89919467A>CCA397459902MC1Rc.209A>C (p.His70Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919467A>GCA397459903MC1Rc.209A>G (p.His70Arg)
16g.89919467A>TCA397459906MC1Rc.209A>T (p.His70Leu)
16g.89919468C>ACA397459909MC1Rc.210C>A (p.His70Gln)
16g.89919468C>GCA397459911MC1Rc.210C>G (p.His70Gln)
16g.89919468C>TCA497380939MC1Rc.210C>T (p.His70=)
ClinVar gnomAD v4
16g.89919469T>ACA397459915MC1Rc.211T>A (p.Ser71Thr)
16g.89919469T>CCA397459916MC1Rc.211T>C (p.Ser71Pro)
16g.89919469T>GCA397459918MC1Rc.211T>G (p.Ser71Ala)
16g.89919470C>ACA397459920MC1Rc.212C>A (p.Ser71Ter)
16g.89919470C>GCA397459921MC1Rc.212C>G (p.Ser71Ter)
16g.89919470C>TCA397459923MC1Rc.212C>T (p.Ser71Leu)
16g.89919471A=CA2242009392MC1Rc.213A= (p.Ser71=)
16g.89919471A>CCA497380940MC1Rc.213A>C (p.Ser71=)
16g.89919471A>GCA8255524MC1Rc.213A>G (p.Ser71=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919471A>TCA497380941MC1Rc.213A>T (p.Ser71=)
16g.89919472C>ACA397459932MC1Rc.214C>A (p.Pro72Thr)
16g.89919472C>GCA397459931MC1Rc.214C>G (p.Pro72Ala)
16g.89919472C>TCA397459935MC1Rc.214C>T (p.Pro72Ser)
gnomAD v4
16g.89919473C>ACA397459943MC1Rc.215C>A (p.Pro72His)
16g.89919473C=CA2242009393MC1Rc.215C= (p.Pro72=)
16g.89919473C>GCA286607429MC1Rc.215C>G (p.Pro72Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919473C>TCA286607430MC1Rc.215C>T (p.Pro72Leu)
dbSNP
16g.89919474C>ACA497380942MC1Rc.216C>A (p.Pro72=)
16g.89919474C=CA2242009394MC1Rc.216C= (p.Pro72=)
16g.89919474C>GCA497380943MC1Rc.216C>G (p.Pro72=)
dbSNP gnomAD v2
16g.89919474C>TCA286607433MC1Rc.216C>T (p.Pro72=)
dbSNP gnomAD v4
16g.89919475A=CA2242009395MC1Rc.217A= (p.Met73=)
16g.89919475A>CCA397459952MC1Rc.217A>C (p.Met73Leu)
16g.89919475A>GCA8255525MC1Rc.217A>G (p.Met73Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919475A>TCA286607436MC1Rc.217A>T (p.Met73Leu)
dbSNP gnomAD v3 gnomAD v4
16g.89919476T>ACA397459956MC1Rc.218T>A (p.Met73Lys)
16g.89919476T>CCA397459958MC1Rc.218T>C (p.Met73Thr)
16g.89919476T>GCA397459961MC1Rc.218T>G (p.Met73Arg)
16g.89919477G>ACA8255526MC1Rc.219G>A (p.Met73Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919477G>CCA397459963MC1Rc.219G>C (p.Met73Ile)
gnomAD v4
16g.89919477G=CA2242009396MC1Rc.219G= (p.Met73=)
16g.89919477G>TCA397459964MC1Rc.219G>T (p.Met73Ile)
gnomAD v4
16g.89919478T>ACA397459968MC1Rc.220T>A (p.Tyr74Asn)
16g.89919478T>CCA397459966MC1Rc.220T>C (p.Tyr74His)
gnomAD v4
16g.89919478T>GCA397459965MC1Rc.220T>G (p.Tyr74Asp)
16g.89919479A=CA2242009397MC1Rc.221A= (p.Tyr74=)
16g.89919479A>CCA397459971MC1Rc.221A>C (p.Tyr74Ser)
16g.89919479A>GCA397459975MC1Rc.221A>G (p.Tyr74Cys)
dbSNP gnomAD v2 gnomAD v4
16g.89919479A>TCA397459977MC1Rc.221A>T (p.Tyr74Phe)
16g.89919480C>ACA8255527MC1Rc.222C>A (p.Tyr74Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919480C=CA2242009398MC1Rc.222C= (p.Tyr74=)
16g.89919480C>GCA397459981MC1Rc.222C>G (p.Tyr74Ter)
dbSNP
16g.89919480C>TCA497380944MC1Rc.222C>T (p.Tyr74=)
16g.89919481T>ACA397459985MC1Rc.223T>A (p.Cys75Ser)
16g.89919481T>CCA286607440MC1Rc.223T>C (p.Cys75Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919481T>GCA397459988MC1Rc.223T>G (p.Cys75Gly)
16g.89919481T=CA2242009399MC1Rc.223T= (p.Cys75=)
16g.89919482G>ACA397459990MC1Rc.224G>A (p.Cys75Tyr)
16g.89919482G>CCA397459992MC1Rc.224G>C (p.Cys75Ser)
16g.89919482G>TCA397459994MC1Rc.224G>T (p.Cys75Phe)
gnomAD v4
16g.89919483C>ACA397459996MC1Rc.225C>A (p.Cys75Ter)
16g.89919483C=CA2242009400MC1Rc.225C= (p.Cys75=)
16g.89919483C>GCA397459997MC1Rc.225C>G (p.Cys75Trp)
16g.89919483C>TCA497380945MC1Rc.225C>T (p.Cys75=)
dbSNP gnomAD v2 gnomAD v4
16g.89919484T>ACA397460003MC1Rc.226T>A (p.Phe76Ile)
16g.89919484T>CCA397460004MC1Rc.226T>C (p.Phe76Leu)
dbSNP
16g.89919484T>GCA397460000MC1Rc.226T>G (p.Phe76Val)
16g.89919484T=CA2242009401MC1Rc.226T= (p.Phe76=)
16g.89919485T>ACA8255528MC1Rc.227T>A (p.Phe76Tyr)
dbSNP ExAC gnomAD v2
16g.89919485T>CCA397460009MC1Rc.227T>C (p.Phe76Ser)
16g.89919485T>GCA397460011MC1Rc.227T>G (p.Phe76Cys)
16g.89919485T=CA2242009402MC1Rc.227T= (p.Phe76=)
16g.89919486C>ACA397460014MC1Rc.228C>A (p.Phe76Leu)
16g.89919486C=CA2242009403MC1Rc.228C= (p.Phe76=)
16g.89919486C>GCA397460015MC1Rc.228C>G (p.Phe76Leu)
16g.89919486C>TCA497380125MC1Rc.228C>T (p.Phe76=)
dbSNP gnomAD v2 gnomAD v4
16g.89919487A=CA2242009404MC1Rc.229A= (p.Ile77=)
16g.89919487A>CCA8255529MC1Rc.229A>C (p.Ile77Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919487A>GCA397460020MC1Rc.229A>G (p.Ile77Val)
gnomAD v4
16g.89919487A>TCA397460021MC1Rc.229A>T (p.Ile77Phe)
16g.89919488T>ACA397460023MC1Rc.230T>A (p.Ile77Asn)
16g.89919488T>CCA8255530MC1Rc.230T>C (p.Ile77Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919488T>GCA397460027MC1Rc.230T>G (p.Ile77Ser)
16g.89919488T=CA2242009405MC1Rc.230T= (p.Ile77=)
16g.89919489C>ACA497380126MC1Rc.231C>A (p.Ile77=)
gnomAD v4
16g.89919489C=CA2242009406MC1Rc.231C= (p.Ile77=)
16g.89919489C>GCA286607444MC1Rc.231C>G (p.Ile77Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919489C>TCA497380127MC1Rc.231C>T (p.Ile77=)
gnomAD v4
16g.89919490T>ACA397460035MC1Rc.232T>A (p.Cys78Ser)
16g.89919490T>CCA397460031MC1Rc.232T>C (p.Cys78Arg)
16g.89919490T>GCA397460034MC1Rc.232T>G (p.Cys78Gly)
16g.89919491G>ACA397460037MC1Rc.233G>A (p.Cys78Tyr)
16g.89919491G>CCA8255531MC1Rc.233G>C (p.Cys78Ser)
dbSNP ExAC gnomAD v3 gnomAD v4
16g.89919491G=CA2242009407MC1Rc.233G= (p.Cys78=)
16g.89919491G>TCA397460041MC1Rc.233G>T (p.Cys78Phe)
16g.89919492C>ACA397460043MC1Rc.234C>A (p.Cys78Ter)
16g.89919492C>GCA397460046MC1Rc.234C>G (p.Cys78Trp)
16g.89919492C>TCA497380129MC1Rc.234C>T (p.Cys78=)
16g.89919493T>ACA397460047MC1Rc.235T>A (p.Cys79Ser)
16g.89919493T>CCA397460048MC1Rc.235T>C (p.Cys79Arg)
16g.89919493T>GCA397460049MC1Rc.235T>G (p.Cys79Gly)
16g.89919494G>ACA397460050MC1Rc.236G>A (p.Cys79Tyr)
16g.89919494G>CCA397460051MC1Rc.236G>C (p.Cys79Ser)
16g.89919494G>TCA397460053MC1Rc.236G>T (p.Cys79Phe)
16g.89919495C>ACA397460056MC1Rc.237C>A (p.Cys79Ter)
16g.89919495C=CA2242009408MC1Rc.237C= (p.Cys79=)
16g.89919495C>GCA397460054MC1Rc.237C>G (p.Cys79Trp)
dbSNP gnomAD v2 gnomAD v4
16g.89919495C>TCA497380132MC1Rc.237C>T (p.Cys79=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.89919496C>ACA397460058MC1Rc.238C>A (p.Leu80Met)
16g.89919496C>GCA397460060MC1Rc.238C>G (p.Leu80Val)
16g.89919496C>TCA497380133MC1Rc.238C>T (p.Leu80=)
ClinVar dbSNP gnomAD v4
16g.89919497T>ACA397460062MC1Rc.239T>A (p.Leu80Gln)
16g.89919497T>CCA397460063MC1Rc.239T>C (p.Leu80Pro)
gnomAD v4
16g.89919497T>GCA397460065MC1Rc.239T>G (p.Leu80Arg)
16g.89919498G>ACA497380136MC1Rc.240G>A (p.Leu80=)
gnomAD v4
16g.89919498G>CCA497380135MC1Rc.240G>C (p.Leu80=)
16g.89919498G>TCA497380134MC1Rc.240G>T (p.Leu80=)
gnomAD v4
16g.89919499G>ACA397460067MC1Rc.241G>A (p.Ala81Thr)
16g.89919499G>CCA8255532MC1Rc.241G>C (p.Ala81Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919499G=CA2242009409MC1Rc.241G= (p.Ala81=)
16g.89919499G>TCA397460069MC1Rc.241G>T (p.Ala81Ser)
dbSNP gnomAD v4
16g.89919500C>ACA397460070MC1Rc.242C>A (p.Ala81Asp)
gnomAD v4
16g.89919500C=CA2242009410MC1Rc.242C= (p.Ala81=)
16g.89919500C>GCA397460073MC1Rc.242C>G (p.Ala81Gly)
16g.89919500C>TCA397460071MC1Rc.242C>T (p.Ala81Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919501C>ACA8255533MC1Rc.243C>A (p.Ala81=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919501C=CA2242009411MC1Rc.243C= (p.Ala81=)
16g.89919501C>GCA8255534MC1Rc.243C>G (p.Ala81=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919501C>TCA497380140MC1Rc.243C>T (p.Ala81=)
dbSNP
16g.89919502T>ACA397460076MC1Rc.244T>A (p.Leu82Met)
16g.89919502T>CCA497380141MC1Rc.244T>C (p.Leu82=)
dbSNP
16g.89919502T>GCA397460077MC1Rc.244T>G (p.Leu82Val)
16g.89919503T>ACA397460079MC1Rc.245T>A (p.Leu82Ter)
16g.89919503T>CCA397460081MC1Rc.245T>C (p.Leu82Ser)
16g.89919503T>GCA397460080MC1Rc.245T>G (p.Leu82Trp)
16g.89919504G>ACA497380143MC1Rc.246G>A (p.Leu82=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919504G>CCA397460083MC1Rc.246G>C (p.Leu82Phe)
16g.89919504G=CA2242009412MC1Rc.246G= (p.Leu82=)
16g.89919504G>TCA397460085MC1Rc.246G>T (p.Leu82Phe)
16g.89919505T>ACA397460086MC1Rc.247T>A (p.Ser83Thr)
16g.89919505T>CCA8255535MC1Rc.247T>C (p.Ser83Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919505T>GCA397460088MC1Rc.247T>G (p.Ser83Ala)
16g.89919505T=CA2242009413MC1Rc.247T= (p.Ser83=)
16g.89919506C>ACA397460090MC1Rc.248C>A (p.Ser83Ter)
16g.89919506C=CA2242009414MC1Rc.248C= (p.Ser83=)
16g.89919506C>GCA397460092MC1Rc.248C>G (p.Ser83Trp)
dbSNP
16g.89919506C>TCA8255536MC1Rc.248C>T (p.Ser83Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919507G>ACA8255537MC1Rc.249G>A (p.Ser83=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919507G>CCA497380146MC1Rc.249G>C (p.Ser83=)
16g.89919507G=CA2242009415MC1Rc.249G= (p.Ser83=)
16g.89919507G>TCA497380147MC1Rc.249G>T (p.Ser83=)
16g.89919510_89919526delCA2635065510MC1Rc.252_268del (p.Asp84GlufsTer?)
gnomAD v4
16g.89919508G>ACA8255538MC1Rc.250G>A (p.Asp84Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919508G>CCA397460096MC1Rc.250G>C (p.Asp84His)
16g.89919508G=CA2242009416MC1Rc.250G= (p.Asp84=)
16g.89919508G>TCA397460098MC1Rc.250G>T (p.Asp84Tyr)
16g.89919509A=CA2242009417MC1Rc.251A= (p.Asp84=)
16g.89919509A>CCA397460099MC1Rc.251A>C (p.Asp84Ala)
dbSNP
16g.89919509A>GCA397460103MC1Rc.251A>G (p.Asp84Gly)
16g.89919509A>TCA397460101MC1Rc.251A>T (p.Asp84Val)
16g.89919510C>ACA123865MC1Rc.252C>A (p.Asp84Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919510C=CA2242009418MC1Rc.252C= (p.Asp84=)
16g.89919510C>GCA8255539MC1Rc.252C>G (p.Asp84Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919510C>TCA497380149MC1Rc.252C>T (p.Asp84=)
16g.89919511C>ACA397460104MC1Rc.253C>A (p.Leu85Met)
16g.89919511C=CA2242009419MC1Rc.253C= (p.Leu85=)
16g.89919511C>GCA397460105MC1Rc.253C>G (p.Leu85Val)
dbSNP
16g.89919511C>TCA497380150MC1Rc.253C>T (p.Leu85=)
dbSNP gnomAD v3 gnomAD v4
16g.89919512T>ACA397460108MC1Rc.254T>A (p.Leu85Gln)
16g.89919512T>CCA397460109MC1Rc.254T>C (p.Leu85Pro)
gnomAD v4
16g.89919512T>GCA397460111MC1Rc.254T>G (p.Leu85Arg)
16g.89919513G>ACA497380151MC1Rc.255G>A (p.Leu85=)
16g.89919513G>CCA497380152MC1Rc.255G>C (p.Leu85=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919513G=CA2242009420MC1Rc.255G= (p.Leu85=)
16g.89919513G>TCA497380153MC1Rc.255G>T (p.Leu85=)
16g.89919514C>ACA397460112MC1Rc.256C>A (p.Leu86Met)
16g.89919514C>GCA397460114MC1Rc.256C>G (p.Leu86Val)
16g.89919514C>TCA497380154MC1Rc.256C>T (p.Leu86=)
16g.89919515T>ACA397460116MC1Rc.257T>A (p.Leu86Gln)
16g.89919515T>CCA397460118MC1Rc.257T>C (p.Leu86Pro)
16g.89919515T>GCA397460119MC1Rc.257T>G (p.Leu86Arg)
16g.89919517_89919519dupCA2635065542MC1Rc.259_261dup (p.Val87_Ser88insVal)
gnomAD v4
16g.89919516G>ACA497380156MC1Rc.258G>A (p.Leu86=)
gnomAD v4
16g.89919516G>CCA497380157MC1Rc.258G>C (p.Leu86=)
16g.89919516G>TCA497380158MC1Rc.258G>T (p.Leu86=)
gnomAD v4
16g.89919517G>ACA397460124MC1Rc.259G>A (p.Val87Met)
gnomAD v4
16g.89919517G>CCA397460121MC1Rc.259G>C (p.Val87Leu)
gnomAD v4
16g.89919517G>TCA397460123MC1Rc.259G>T (p.Val87Leu)
gnomAD v4
16g.89919518T>ACA397460126MC1Rc.260T>A (p.Val87Glu)
16g.89919518T>CCA397460127MC1Rc.260T>C (p.Val87Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919518T>GCA397460129MC1Rc.260T>G (p.Val87Gly)
16g.89919518T=CA2242009421MC1Rc.260T= (p.Val87=)
16g.89919519G>ACA497380159MC1Rc.261G>A (p.Val87=)
dbSNP
16g.89919519G>CCA497380160MC1Rc.261G>C (p.Val87=)
16g.89919519G>TCA497380161MC1Rc.261G>T (p.Val87=)
16g.89919520A>CCA397460130MC1Rc.262A>C (p.Ser88Arg)
16g.89919520A>GCA397460131MC1Rc.262A>G (p.Ser88Gly)
ClinVar dbSNP
16g.89919520A>TCA397460133MC1Rc.262A>T (p.Ser88Cys)
16g.89919521G>ACA397460135MC1Rc.263G>A (p.Ser88Asn)
16g.89919521G>CCA397460136MC1Rc.263G>C (p.Ser88Thr)
16g.89919521G>TCA397460138MC1Rc.263G>T (p.Ser88Ile)
16g.89919522C>ACA397460139MC1Rc.264C>A (p.Ser88Arg)
16g.89919522C=CA2242009422MC1Rc.264C= (p.Ser88=)
16g.89919522C>GCA397460141MC1Rc.264C>G (p.Ser88Arg)
16g.89919522C>TCA8255540MC1Rc.264C>T (p.Ser88=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919522_89919523delinsCGCA2242009423MC1Rc.264_265delinsCG (p.Ser88=)
16g.89919523G>ACA8255541MC1Rc.265G>A (p.Gly89Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919523G>CCA8255542MC1Rc.265G>C (p.Gly89Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919523G=CA2242009425MC1Rc.265G= (p.Gly89=)
16g.89919523G>TCA397460144MC1Rc.265G>T (p.Gly89Trp)
16g.89919525delCA2242009424MC1Rc.267del (p.Ser90AlafsTer?)
dbSNP
16g.89919524G>ACA397460146MC1Rc.266G>A (p.Gly89Glu)
16g.89919524G>CCA397460148MC1Rc.266G>C (p.Gly89Ala)
dbSNP gnomAD v2 gnomAD v4
16g.89919524G=CA2242009426MC1Rc.266G= (p.Gly89=)
16g.89919524G>TCA397460150MC1Rc.266G>T (p.Gly89Val)
gnomAD v4
16g.89919525G>ACA286607448MC1Rc.267G>A (p.Gly89=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919525G>CCA497380166MC1Rc.267G>C (p.Gly89=)
16g.89919525G=CA2242009427MC1Rc.267G= (p.Gly89=)
16g.89919525G>TCA497380165MC1Rc.267G>T (p.Gly89=)
16g.89919526A>CCA397460151MC1Rc.268A>C (p.Ser90Arg)
16g.89919526A>GCA397460152MC1Rc.268A>G (p.Ser90Gly)
16g.89919526A>TCA397460154MC1Rc.268A>T (p.Ser90Cys)
16g.89919527G>ACA397460157MC1Rc.269G>A (p.Ser90Asn)
16g.89919527G>CCA397460155MC1Rc.269G>C (p.Ser90Thr)
16g.89919527G>TCA397460156MC1Rc.269G>T (p.Ser90Ile)
gnomAD v4
16g.89919528C>ACA397460158MC1Rc.270C>A (p.Ser90Arg)
COSMIC
16g.89919528C>GCA397460159MC1Rc.270C>G (p.Ser90Arg)
16g.89919528C>TCA497380170MC1Rc.270C>T (p.Ser90=)

Number of alleles fetched