Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.89919802_89920805delCA916083514MC1Rc.544_*593del (n.[c.544_*593del;Tyr182LeufsTer?])
c.544_*17del
c.544_1098+68del
ClinVar
16g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGACA2242009630MC1Rc.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=])
c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA
16g.89919803_89920802delCA658798660MC1Rc.545_*590del (n.[c.545_*590del;Tyr182CysfsTer8])
c.545_*14del
c.545_1098+65del
ClinVar dbSNP
16g.89919828_89919840delinsGTGCCTCGTGGTCCA2242009650MC1Rc.570_582delinsGTGCCTCGTGGTC (p.Leu190=)
16g.89919830_89919841delCA624455299MC1Rc.572_583del (p.Cys191_Val194del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919832C>ACA397462033MC1Rc.574C>A (p.Leu192Ile)
16g.89919832C>GCA397462035MC1Rc.574C>G (p.Leu192Val)
gnomAD v4
16g.89919832C>TCA397462037MC1Rc.574C>T (p.Leu192Phe)
gnomAD v4
16g.89919833T>ACA397462040MC1Rc.575T>A (p.Leu192His)
16g.89919833T>CCA233346MC1Rc.575T>C (p.Leu192Pro)
ClinVar dbSNP
16g.89919833T>GCA397462048MC1Rc.575T>G (p.Leu192Arg)
16g.89919833T=CA2242009653MC1Rc.575T= (p.Leu192=)
16g.89919834C>ACA497380738MC1Rc.576C>A (p.Leu192=)
gnomAD v4
16g.89919834C=CA2242009654MC1Rc.576C= (p.Leu192=)
16g.89919834C>GCA286607547MC1Rc.576C>G (p.Leu192=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919834C>TCA8255667MC1Rc.576C>T (p.Leu192=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919835G>ACA8255668MC1Rc.577G>A (p.Val193Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919835G>CCA397462057MC1Rc.577G>C (p.Val193Leu)
gnomAD v4
16g.89919835G=CA2242009655MC1Rc.577G= (p.Val193=)
16g.89919835G>TCA397462059MC1Rc.577G>T (p.Val193Leu)
dbSNP COSMIC
16g.89919836T>ACA397462062MC1Rc.578T>A (p.Val193Glu)
16g.89919836T>CCA397462064MC1Rc.578T>C (p.Val193Ala)
16g.89919836T>GCA397462065MC1Rc.578T>G (p.Val193Gly)
16g.89919837G>ACA497380749MC1Rc.579G>A (p.Val193=)
gnomAD v4
16g.89919837G>CCA497380747MC1Rc.579G>C (p.Val193=)
16g.89919837G>TCA497380748MC1Rc.579G>T (p.Val193=)
16g.89919838G>ACA397462068MC1Rc.580G>A (p.Val194Ile)
16g.89919838G>CCA397462066MC1Rc.580G>C (p.Val194Leu)
16g.89919838G>TCA397462067MC1Rc.580G>T (p.Val194Phe)
gnomAD v4
16g.89919838_89919841delinsGTCTCA2242009656MC1Rc.580_583delinsGTCT (p.Val194=)
16g.89919839T>ACA397462072MC1Rc.581T>A (p.Val194Asp)
gnomAD v4
16g.89919839T>CCA397462082MC1Rc.581T>C (p.Val194Ala)
16g.89919839T>GCA397462086MC1Rc.581T>G (p.Val194Gly)
16g.89919844_89919846delCA286607550MC1Rc.586_588del (p.Phe196del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919840C>ACA497380755MC1Rc.582C>A (p.Val194=)
16g.89919840C=CA2242009657MC1Rc.582C= (p.Val194=)
16g.89919840C>GCA8255670MC1Rc.582C>G (p.Val194=)
dbSNP ExAC gnomAD v2
16g.89919840C>TCA8255669MC1Rc.582C>T (p.Val194=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919841T>ACA397462094MC1Rc.583T>A (p.Phe195Ile)
16g.89919841T>CCA397462109MC1Rc.583T>C (p.Phe195Leu)
16g.89919841T>GCA8255671MC1Rc.583T>G (p.Phe195Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919841T=CA2242009658MC1Rc.583T= (p.Phe195=)
16g.89919842T>ACA397462113MC1Rc.584T>A (p.Phe195Tyr)
16g.89919842T>CCA397462115MC1Rc.584T>C (p.Phe195Ser)
16g.89919842T>GCA397462117MC1Rc.584T>G (p.Phe195Cys)
16g.89919842_89919843delinsAGCA2580092414MC1Rc.584_585delinsAG (p.Phe195Ter)
ClinVar
16g.89919843C>ACA397462118MC1Rc.585C>A (p.Phe195Leu)
gnomAD v4
16g.89919843C>GCA397462122MC1Rc.585C>G (p.Phe195Leu)
gnomAD v4
16g.89919843C>TCA497380790MC1Rc.585C>T (p.Phe195=)
ClinVar gnomAD v4
16g.89919844T>ACA397462128MC1Rc.586T>A (p.Phe196Ile)
gnomAD v4
16g.89919844T>CCA8255672MC1Rc.586T>C (p.Phe196Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919844T>GCA286607556MC1Rc.586T>G (p.Phe196Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919844T=CA2242009659MC1Rc.586T= (p.Phe196=)
16g.89919845T>ACA397462137MC1Rc.587T>A (p.Phe196Tyr)
16g.89919845T>CCA397462138MC1Rc.587T>C (p.Phe196Ser)
16g.89919845T>GCA397462139MC1Rc.587T>G (p.Phe196Cys)
16g.89919845_89919846delinsTCCA2242009660MC1Rc.587_588delinsTC (p.Phe196=)
16g.89919846C>ACA397462141MC1Rc.588C>A (p.Phe196Leu)
16g.89919846C>GCA397462140MC1Rc.588C>G (p.Phe196Leu)
16g.89919846C>TCA497380806MC1Rc.588C>T (p.Phe196=)
16g.89919847delCA725762004MC1Rc.589del (p.Leu197TrpfsTer?)
dbSNP gnomAD v4
16g.89919847C>ACA397462144MC1Rc.589C>A (p.Leu197Met)
16g.89919847C=CA2242009661MC1Rc.589C= (p.Leu197=)
16g.89919847C>GCA397462151MC1Rc.589C>G (p.Leu197Val)
gnomAD v4
16g.89919847C>TCA497380809MC1Rc.589C>T (p.Leu197=)
dbSNP gnomAD v4
16g.89919848T>ACA397462158MC1Rc.590T>A (p.Leu197Gln)
16g.89919848T>CCA397462164MC1Rc.590T>C (p.Leu197Pro)
dbSNP gnomAD v2 gnomAD v4
16g.89919848T>GCA397462162MC1Rc.590T>G (p.Leu197Arg)
16g.89919848T=CA2242009662MC1Rc.590T= (p.Leu197=)
16g.89919849G>ACA497380818MC1Rc.591G>A (p.Leu197=)
16g.89919849G>CCA497380820MC1Rc.591G>C (p.Leu197=)
dbSNP gnomAD v3 gnomAD v4
16g.89919849G=CA2242009663MC1Rc.591G= (p.Leu197=)
16g.89919849G>TCA497380821MC1Rc.591G>T (p.Leu197=)
gnomAD v4
16g.89919850G>ACA397462171MC1Rc.592G>A (p.Ala198Thr)
16g.89919850G>CCA8255673MC1Rc.592G>C (p.Ala198Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919850G=CA2242009664MC1Rc.592G= (p.Ala198=)
16g.89919850G>TCA397462175MC1Rc.592G>T (p.Ala198Ser)
gnomAD v4
16g.89919851C>ACA397462182MC1Rc.593C>A (p.Ala198Asp)
16g.89919851C=CA2242009665MC1Rc.593C= (p.Ala198=)
16g.89919851C>GCA397462187MC1Rc.593C>G (p.Ala198Gly)
dbSNP gnomAD v2 gnomAD v4
16g.89919851C>TCA397462185MC1Rc.593C>T (p.Ala198Val)
ClinVar dbSNP gnomAD v4 COSMIC
16g.89919852T>ACA497380836MC1Rc.594T>A (p.Ala198=)
16g.89919852T>CCA497380838MC1Rc.594T>C (p.Ala198=)
gnomAD v4
16g.89919852T>GCA497380840MC1Rc.594T>G (p.Ala198=)
dbSNP gnomAD v3 gnomAD v4
16g.89919852T=CA2242009666MC1Rc.594T= (p.Ala198=)
16g.89919853A=CA2242009667MC1Rc.595A= (p.Met199=)
16g.89919853A>CCA397462189MC1Rc.595A>C (p.Met199Leu)
dbSNP
16g.89919853A>GCA397462191MC1Rc.595A>G (p.Met199Val)
dbSNP gnomAD v4
16g.89919853A>TCA397462194MC1Rc.595A>T (p.Met199Leu)
16g.89919854T>ACA397462201MC1Rc.596T>A (p.Met199Lys)
16g.89919854T>CCA397462214MC1Rc.596T>C (p.Met199Thr)
dbSNP
16g.89919854T>GCA397462216MC1Rc.596T>G (p.Met199Arg)
16g.89919854T=CA2242009668MC1Rc.596T= (p.Met199=)
16g.89919855G>ACA397462219MC1Rc.597G>A (p.Met199Ile)
dbSNP gnomAD v4
16g.89919855G>CCA397462222MC1Rc.597G>C (p.Met199Ile)
16g.89919855G=CA2242009669MC1Rc.597G= (p.Met199=)
16g.89919855G>TCA397462225MC1Rc.597G>T (p.Met199Ile)
gnomAD v4
16g.89919856C>ACA397462229MC1Rc.598C>A (p.Leu200Met)
16g.89919856C=CA2242009670MC1Rc.598C= (p.Leu200=)
16g.89919856C>GCA397462232MC1Rc.598C>G (p.Leu200Val)
dbSNP gnomAD v4
16g.89919856C>TCA286607558MC1Rc.598C>T (p.Leu200=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919857T>ACA397462242MC1Rc.599T>A (p.Leu200Gln)
16g.89919857T>CCA397462239MC1Rc.599T>C (p.Leu200Pro)
16g.89919857T>GCA397462237MC1Rc.599T>G (p.Leu200Arg)
16g.89919858G>ACA497380870MC1Rc.600G>A (p.Leu200=)
16g.89919858G>CCA497380866MC1Rc.600G>C (p.Leu200=)
16g.89919858G>TCA497380869MC1Rc.600G>T (p.Leu200=)
16g.89919859G>ACA397462246MC1Rc.601G>A (p.Val201Met)
16g.89919859G>CCA397462250MC1Rc.601G>C (p.Val201Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919859G=CA2242009671MC1Rc.601G= (p.Val201=)
16g.89919859G>TCA397462257MC1Rc.601G>T (p.Val201Leu)
gnomAD v4
16g.89919860T>ACA397462259MC1Rc.602T>A (p.Val201Glu)
16g.89919860T>CCA8255674MC1Rc.602T>C (p.Val201Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919860T>GCA397462264MC1Rc.602T>G (p.Val201Gly)
16g.89919860T=CA2242009672MC1Rc.602T= (p.Val201=)
16g.89919861G>ACA497380888MC1Rc.603G>A (p.Val201=)
gnomAD v4
16g.89919861G>CCA497380884MC1Rc.603G>C (p.Val201=)
16g.89919861G>TCA497380882MC1Rc.603G>T (p.Val201=)
gnomAD v4
16g.89919863_89919923delCA2635066772MC1Rc.605_665del (p.Leu202ProfsTer?)
gnomAD v4
16g.89919862C>ACA397462274MC1Rc.604C>A (p.Leu202Ile)
16g.89919862C>GCA397462275MC1Rc.604C>G (p.Leu202Val)
16g.89919862C>TCA397462276MC1Rc.604C>T (p.Leu202Phe)
16g.89919863T>ACA397462279MC1Rc.605T>A (p.Leu202His)
16g.89919863T>CCA397462280MC1Rc.605T>C (p.Leu202Pro)
16g.89919863T>GCA397462282MC1Rc.605T>G (p.Leu202Arg)
16g.89919864C>ACA497380894MC1Rc.606C>A (p.Leu202=)
gnomAD v4
16g.89919864C>GCA497380901MC1Rc.606C>G (p.Leu202=)
16g.89919864C>TCA497380898MC1Rc.606C>T (p.Leu202=)
16g.89919865A=CA2242009673MC1Rc.607A= (p.Met203=)
16g.89919865A>CCA397462283MC1Rc.607A>C (p.Met203Leu)
16g.89919865A>GCA8255676MC1Rc.607A>G (p.Met203Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919865A>TCA8255675MC1Rc.607A>T (p.Met203Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919866T>ACA397462292MC1Rc.608T>A (p.Met203Lys)
16g.89919866T>CCA8255678MC1Rc.608T>C (p.Met203Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919866T>GCA397462300MC1Rc.608T>G (p.Met203Arg)
16g.89919866T=CA2242009675MC1Rc.608T= (p.Met203=)
16g.89919871_89919894dupCA2635066786MC1Rc.613_636dup (p.Ala212_Arg213insValLeuTyrValHisMetLeuAla)
gnomAD v4
16g.89919866_89919896delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCGCA2242009674MC1Rc.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG (p.Met203=)
16g.89919867G>ACA397462308MC1Rc.609G>A (p.Met203Ile)
gnomAD v4
16g.89919867G>CCA397462310MC1Rc.609G>C (p.Met203Ile)
16g.89919867G=CA2242009676MC1Rc.609G= (p.Met203=)
16g.89919867G>TCA397462313MC1Rc.609G>T (p.Met203Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89919871_89919900delCA8255677MC1Rc.613_642del (p.Val205_Ala214del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919868G>ACA397462319MC1Rc.610G>A (p.Ala204Thr)
gnomAD v4
16g.89919868G>CCA397462321MC1Rc.610G>C (p.Ala204Pro)
16g.89919868G>TCA397462325MC1Rc.610G>T (p.Ala204Ser)
16g.89919869C>ACA397462344MC1Rc.611C>A (p.Ala204Asp)
16g.89919869C>GCA397462333MC1Rc.611C>G (p.Ala204Gly)
COSMIC
16g.89919869C>TCA397462330MC1Rc.611C>T (p.Ala204Val)
gnomAD v4 COSMIC
16g.89919870C>ACA497380964MC1Rc.612C>A (p.Ala204=)
gnomAD v4
16g.89919870C=CA2242009677MC1Rc.612C= (p.Ala204=)
16g.89919870C>GCA497380965MC1Rc.612C>G (p.Ala204=)
dbSNP
16g.89919870C>TCA8255679MC1Rc.612C>T (p.Ala204=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919871delCA2576104032MC1Rc.613del (p.Val205CysfsTer?)
16g.89919871G>ACA8255680MC1Rc.613G>A (p.Val205Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919871G>CCA397462347MC1Rc.613G>C (p.Val205Leu)
dbSNP gnomAD v4
16g.89919871G=CA2242009678MC1Rc.613G= (p.Val205=)
16g.89919871G>TCA397462348MC1Rc.613G>T (p.Val205Leu)
dbSNP
16g.89919872T>ACA397462349MC1Rc.614T>A (p.Val205Glu)
dbSNP gnomAD v2 gnomAD v4
16g.89919872T>CCA397462350MC1Rc.614T>C (p.Val205Ala)
16g.89919872T>GCA397462352MC1Rc.614T>G (p.Val205Gly)
16g.89919872T=CA2242009679MC1Rc.614T= (p.Val205=)
16g.89919873G>ACA497380966MC1Rc.615G>A (p.Val205=)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919873G>CCA497380967MC1Rc.615G>C (p.Val205=)
16g.89919873G=CA2242009680MC1Rc.615G= (p.Val205=)
16g.89919873G>TCA497380968MC1Rc.615G>T (p.Val205=)
16g.89919874C>ACA397462355MC1Rc.616C>A (p.Leu206Met)
16g.89919874C=CA2242009681MC1Rc.616C= (p.Leu206=)
16g.89919874C>GCA8255681MC1Rc.616C>G (p.Leu206Val)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919874C>TCA497380969MC1Rc.616C>T (p.Leu206=)
dbSNP gnomAD v4
16g.89919875T>ACA397462365MC1Rc.617T>A (p.Leu206Gln)
16g.89919875T>CCA8255682MC1Rc.617T>C (p.Leu206Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919875T>GCA397462367MC1Rc.617T>G (p.Leu206Arg)
16g.89919875T=CA2242009682MC1Rc.617T= (p.Leu206=)
16g.89919876G>ACA497380970MC1Rc.618G>A (p.Leu206=)
gnomAD v4
16g.89919876G>CCA497380972MC1Rc.618G>C (p.Leu206=)
16g.89919876G>TCA497380973MC1Rc.618G>T (p.Leu206=)
gnomAD v4
16g.89919877T>ACA397462369MC1Rc.619T>A (p.Tyr207Asn)
16g.89919877T>CCA397462370MC1Rc.619T>C (p.Tyr207His)
16g.89919877T>GCA397462368MC1Rc.619T>G (p.Tyr207Asp)
16g.89919878A=CA2242009683MC1Rc.620A= (p.Tyr207=)
16g.89919878A>CCA397462376MC1Rc.620A>C (p.Tyr207Ser)
16g.89919878A>GCA397462371MC1Rc.620A>G (p.Tyr207Cys)
dbSNP gnomAD v3 gnomAD v4
16g.89919878A>TCA397462374MC1Rc.620A>T (p.Tyr207Phe)
16g.89919879C>ACA397462379MC1Rc.621C>A (p.Tyr207Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919879C=CA2242009684MC1Rc.621C= (p.Tyr207=)
16g.89919879C>GCA8255684MC1Rc.621C>G (p.Tyr207Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919879C>TCA8255683MC1Rc.621C>T (p.Tyr207=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919880G>ACA8255685MC1Rc.622G>A (p.Val208Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919880G>CCA397462401MC1Rc.622G>C (p.Val208Leu)
dbSNP gnomAD v2 gnomAD v4
16g.89919880G=CA2242009685MC1Rc.622G= (p.Val208=)
16g.89919880G>TCA397462388MC1Rc.622G>T (p.Val208Phe)
ClinVar dbSNP
16g.89919881T>ACA397462405MC1Rc.623T>A (p.Val208Asp)
16g.89919881T>CCA286607568MC1Rc.623T>C (p.Val208Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919881T>GCA397462409MC1Rc.623T>G (p.Val208Gly)
16g.89919881T=CA2242009686MC1Rc.623T= (p.Val208=)
16g.89919882C>ACA497380978MC1Rc.624C>A (p.Val208=)
16g.89919882C>GCA497380979MC1Rc.624C>G (p.Val208=)
16g.89919882C>TCA497380980MC1Rc.624C>T (p.Val208=)
gnomAD v4
16g.89919883C>ACA397462413MC1Rc.625C>A (p.His209Asn)
16g.89919883C=CA2242009687MC1Rc.625C= (p.His209=)
16g.89919883C>GCA397462415MC1Rc.625C>G (p.His209Asp)
16g.89919883C>TCA8255686MC1Rc.625C>T (p.His209Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919884A=CA2242009688MC1Rc.626A= (p.His209=)
16g.89919884A>CCA397462417MC1Rc.626A>C (p.His209Pro)
dbSNP
16g.89919884A>GCA8255687MC1Rc.626A>G (p.His209Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919884A>TCA397462429MC1Rc.626A>T (p.His209Leu)
16g.89919885C>ACA397462434MC1Rc.627C>A (p.His209Gln)
16g.89919885C=CA2242009689MC1Rc.627C= (p.His209=)
16g.89919885C>GCA397462449MC1Rc.627C>G (p.His209Gln)
16g.89919885C>TCA497380983MC1Rc.627C>T (p.His209=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919886A=CA2242009690MC1Rc.628A= (p.Met210=)
16g.89919886A>CCA8255688MC1Rc.628A>C (p.Met210Leu)
ClinVar dbSNP ExAC gnomAD v2
16g.89919886A>GCA397462451MC1Rc.628A>G (p.Met210Val)
ClinVar dbSNP gnomAD v4
16g.89919886A>TCA397462454MC1Rc.628A>T (p.Met210Leu)
16g.89919887T>ACA397462457MC1Rc.629T>A (p.Met210Lys)
16g.89919887T>CCA8255689MC1Rc.629T>C (p.Met210Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919887T>GCA397462461MC1Rc.629T>G (p.Met210Arg)
16g.89919887T=CA2242009691MC1Rc.629T= (p.Met210=)
16g.89919887dupCA2635066860MC1Rc.629dup (p.Met210IlefsTer29)
gnomAD v4
16g.89919888G>ACA397462464MC1Rc.630G>A (p.Met210Ile)
16g.89919888G>CCA397462465MC1Rc.630G>C (p.Met210Ile)
16g.89919888G>TCA397462467MC1Rc.630G>T (p.Met210Ile)
gnomAD v4
16g.89919889C>ACA397462471MC1Rc.631C>A (p.Leu211Met)
16g.89919889C=CA2242009692MC1Rc.631C= (p.Leu211=)
16g.89919889C>GCA8255690MC1Rc.631C>G (p.Leu211Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919889C>TCA497380985MC1Rc.631C>T (p.Leu211=)
16g.89919890T>ACA397462475MC1Rc.632T>A (p.Leu211Gln)
gnomAD v4
16g.89919890T>CCA397462477MC1Rc.632T>C (p.Leu211Pro)
gnomAD v4
16g.89919890T>GCA397462479MC1Rc.632T>G (p.Leu211Arg)
16g.89919891G>ACA8255691MC1Rc.633G>A (p.Leu211=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919891G>CCA497380988MC1Rc.633G>C (p.Leu211=)
gnomAD v4
16g.89919891G=CA2242009693MC1Rc.633G= (p.Leu211=)
16g.89919891G>TCA497380989MC1Rc.633G>T (p.Leu211=)
16g.89919892G>ACA397462481MC1Rc.634G>A (p.Ala212Thr)
gnomAD v4
16g.89919892G>CCA397462482MC1Rc.634G>C (p.Ala212Pro)
16g.89919892G=CA2242009695MC1Rc.634G= (p.Ala212=)
16g.89919892G>TCA397462483MC1Rc.634G>T (p.Ala212Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89919892_89919911delinsGCCCGGGCCTGCCAGCACGCCA2242009694MC1Rc.634_653delinsGCCCGGGCCTGCCAGCACGC (p.Ala212=)
16g.89919893C>ACA397462484MC1Rc.635C>A (p.Ala212Asp)
16g.89919893C>GCA397462485MC1Rc.635C>G (p.Ala212Gly)
16g.89919893C>TCA397462486MC1Rc.635C>T (p.Ala212Val)
gnomAD v4
16g.89919895delCA2808106258MC1Rc.637del (p.Arg213GlyfsTer?)
16g.89919895_89919913delCA8255692MC1Rc.637_655del (p.Cys215SerfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919894C>ACA497380995MC1Rc.636C>A (p.Ala212=)
16g.89919894C>GCA497380992MC1Rc.636C>G (p.Ala212=)
16g.89919894C>TCA497380993MC1Rc.636C>T (p.Ala212=)
16g.89919895C>ACA497380996MC1Rc.637C>A (p.Arg213=)
16g.89919895C=CA2242009696MC1Rc.637C= (p.Arg213=)
16g.89919895C>GCA286607575MC1Rc.637C>G (p.Arg213Gly)
dbSNP gnomAD v4
16g.89919895C>TCA8255693MC1Rc.637C>T (p.Arg213Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919896G>ACA8255694MC1Rc.638G>A (p.Arg213Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919896G>CCA397462492MC1Rc.638G>C (p.Arg213Pro)
16g.89919896G=CA2242009697MC1Rc.638G= (p.Arg213=)
16g.89919896G>TCA397462494MC1Rc.638G>T (p.Arg213Leu)
16g.89919897G>ACA497380999MC1Rc.639G>A (p.Arg213=)
dbSNP
16g.89919897G>CCA497381001MC1Rc.639G>C (p.Arg213=)
16g.89919897G=CA2242009698MC1Rc.639G= (p.Arg213=)
16g.89919897G>TCA497381003MC1Rc.639G>T (p.Arg213=)
16g.89919898G>ACA8255695MC1Rc.640G>A (p.Ala214Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919898G>CCA397462498MC1Rc.640G>C (p.Ala214Pro)
gnomAD v4
16g.89919898G=CA2242009699MC1Rc.640G= (p.Ala214=)
16g.89919898G>TCA397462501MC1Rc.640G>T (p.Ala214Ser)
gnomAD v4
16g.89919899C>ACA397462504MC1Rc.641C>A (p.Ala214Asp)
16g.89919899C=CA2242009700MC1Rc.641C= (p.Ala214=)
16g.89919899C>GCA397462515MC1Rc.641C>G (p.Ala214Gly)
16g.89919899C>TCA397462518MC1Rc.641C>T (p.Ala214Val)
dbSNP gnomAD v2 gnomAD v4
16g.89919900C>ACA497381008MC1Rc.642C>A (p.Ala214=)
16g.89919900C=CA2242009701MC1Rc.642C= (p.Ala214=)
16g.89919900C>GCA497381009MC1Rc.642C>G (p.Ala214=)
dbSNP gnomAD v4
16g.89919900C>TCA497381011MC1Rc.642C>T (p.Ala214=)
16g.89919901T>ACA397462525MC1Rc.643T>A (p.Cys215Ser)
16g.89919901T>CCA397462526MC1Rc.643T>C (p.Cys215Arg)
16g.89919901T>GCA397462527MC1Rc.643T>G (p.Cys215Gly)
16g.89919902G>ACA397462528MC1Rc.644G>A (p.Cys215Tyr)
16g.89919902G>CCA397462530MC1Rc.644G>C (p.Cys215Ser)
16g.89919902G>TCA397462531MC1Rc.644G>T (p.Cys215Phe)
dbSNP
16g.89919903C>ACA10583444MC1Rc.645C>A (p.Cys215Ter)
ClinVar dbSNP
16g.89919903C=CA2242009702MC1Rc.645C= (p.Cys215=)
16g.89919903C>GCA397462534MC1Rc.645C>G (p.Cys215Trp)
16g.89919903C>TCA497381021MC1Rc.645C>T (p.Cys215=)
dbSNP gnomAD v4
16g.89919904C>ACA397462545MC1Rc.646C>A (p.Gln216Lys)
16g.89919904C=CA2242009703MC1Rc.646C= (p.Gln216=)
16g.89919904C>GCA397462546MC1Rc.646C>G (p.Gln216Glu)
dbSNP gnomAD v2 gnomAD v4
16g.89919904C>TCA397462547MC1Rc.646C>T (p.Gln216Ter)
gnomAD v4
16g.89919905A>CCA397462548MC1Rc.647A>C (p.Gln216Pro)
16g.89919905A>GCA397462549MC1Rc.647A>G (p.Gln216Arg)
16g.89919905A>TCA397462550MC1Rc.647A>T (p.Gln216Leu)
16g.89919905dupCA2576104033MC1Rc.647dup (p.His217AlafsTer22)
16g.89919906G>ACA497381034MC1Rc.648G>A (p.Gln216=)
gnomAD v4
16g.89919906G>CCA397462551MC1Rc.648G>C (p.Gln216His)
16g.89919906G>TCA397462552MC1Rc.648G>T (p.Gln216His)
16g.89919909_89919919delCA2576104034MC1Rc.651_661del (p.Ala218ArgfsTer17)
16g.89919907C>ACA397462553MC1Rc.649C>A (p.His217Asn)
gnomAD v4
16g.89919907C>GCA397462555MC1Rc.649C>G (p.His217Asp)
16g.89919907C>TCA397462558MC1Rc.649C>T (p.His217Tyr)
16g.89919908A>CCA397462560MC1Rc.650A>C (p.His217Pro)
16g.89919908A>GCA397462561MC1Rc.650A>G (p.His217Arg)
16g.89919908A>TCA397462569MC1Rc.650A>T (p.His217Leu)
16g.89919909C>ACA397462573MC1Rc.651C>A (p.His217Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89919909C=CA2242009704MC1Rc.651C= (p.His217=)
16g.89919909C>GCA397462572MC1Rc.651C>G (p.His217Gln)
gnomAD v4
16g.89919909C>TCA8255696MC1Rc.651C>T (p.His217=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919910G>ACA8255697MC1Rc.652G>A (p.Ala218Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919910G>CCA397462576MC1Rc.652G>C (p.Ala218Pro)
16g.89919910G=CA2242009705MC1Rc.652G= (p.Ala218=)
16g.89919910G>TCA397462578MC1Rc.652G>T (p.Ala218Ser)
gnomAD v4
16g.89919911C>ACA397462579MC1Rc.653C>A (p.Ala218Asp)
16g.89919911C=CA2242009706MC1Rc.653C= (p.Ala218=)
16g.89919911C>GCA8255698MC1Rc.653C>G (p.Ala218Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919911C>TCA397462581MC1Rc.653C>T (p.Ala218Val)
16g.89919912C>ACA497381050MC1Rc.654C>A (p.Ala218=)
16g.89919912C>GCA497381051MC1Rc.654C>G (p.Ala218=)
16g.89919912C>TCA497381053MC1Rc.654C>T (p.Ala218=)
ClinVar
16g.89919913C>ACA397462582MC1Rc.655C>A (p.Gln219Lys)
gnomAD v4
16g.89919913C>GCA397462583MC1Rc.655C>G (p.Gln219Glu)
16g.89919913C>TCA397462584MC1Rc.655C>T (p.Gln219Ter)
16g.89919914A=CA2242009707MC1Rc.656A= (p.Gln219=)
16g.89919914A>CCA286607583MC1Rc.656A>C (p.Gln219Pro)
dbSNP gnomAD v3 gnomAD v4
16g.89919914A>GCA397462586MC1Rc.656A>G (p.Gln219Arg)
16g.89919914A>TCA397462587MC1Rc.656A>T (p.Gln219Leu)
16g.89919915G>ACA497381058MC1Rc.657G>A (p.Gln219=)
16g.89919915G>CCA397462589MC1Rc.657G>C (p.Gln219His)
gnomAD v4
16g.89919915G>TCA397462590MC1Rc.657G>T (p.Gln219His)
16g.89919916G>ACA397462602MC1Rc.658G>A (p.Gly220Ser)
16g.89919916G>CCA397462605MC1Rc.658G>C (p.Gly220Arg)
16g.89919916G>TCA397462594MC1Rc.658G>T (p.Gly220Cys)
gnomAD v4
16g.89919920_89919941delCA2576104035MC1Rc.662_683del (p.Ile221SerfsTer?)
16g.89919917G>ACA397462626MC1Rc.659G>A (p.Gly220Asp)
ClinVar dbSNP gnomAD v4
16g.89919917G>CCA397462628MC1Rc.659G>C (p.Gly220Ala)
16g.89919917G=CA2242009708MC1Rc.659G= (p.Gly220=)
16g.89919917G>TCA397462631MC1Rc.659G>T (p.Gly220Val)
gnomAD v4
16g.89919917_89919918dupCA2635066957MC1Rc.659_660dup (p.Ile221AlafsTer?)
gnomAD v4
16g.89919918C>ACA286607585MC1Rc.660C>A (p.Gly220=)
dbSNP
16g.89919918C=CA2242009709MC1Rc.660C= (p.Gly220=)
16g.89919918C>GCA497381072MC1Rc.660C>G (p.Gly220=)
16g.89919918C>TCA497381074MC1Rc.660C>T (p.Gly220=)
gnomAD v4
16g.89919919A=CA2242009710MC1Rc.661A= (p.Ile221=)
16g.89919919A>CCA397462635MC1Rc.661A>C (p.Ile221Leu)
16g.89919919A>GCA397462638MC1Rc.661A>G (p.Ile221Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919919A>TCA397462639MC1Rc.661A>T (p.Ile221Phe)
16g.89919920T>ACA397462642MC1Rc.662T>A (p.Ile221Asn)
16g.89919920T>CCA8255699MC1Rc.662T>C (p.Ile221Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919920T>GCA397462644MC1Rc.662T>G (p.Ile221Ser)
16g.89919920T=CA2242009712MC1Rc.662T= (p.Ile221=)
16g.89919920_89919942delinsTCGCCCGGCTCCACAAGAGGCAGCA2242009711MC1Rc.662_684delinsTCGCCCGGCTCCACAAGAGGCAG (p.Ile221=)
16g.89919921C>ACA497381084MC1Rc.663C>A (p.Ile221=)
gnomAD v4
16g.89919921C=CA2242009713MC1Rc.663C= (p.Ile221=)
16g.89919921C>GCA397462646MC1Rc.663C>G (p.Ile221Met)
16g.89919921C>TCA8255701MC1Rc.663C>T (p.Ile221=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919928_89919949delCA8255700MC1Rc.670_691del (p.Leu224SerfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919922delCA2635066990MC1Rc.664del (p.Ala222ProfsTer?)
gnomAD v4
16g.89919922G>ACA8255702MC1Rc.664G>A (p.Ala222Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919922G>CCA397462649MC1Rc.664G>C (p.Ala222Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89919922G=CA2242009714MC1Rc.664G= (p.Ala222=)
16g.89919922G>TCA8255703MC1Rc.664G>T (p.Ala222Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919922_89919923delinsTACA2573152826MC1Rc.664_665delinsTA (p.Ala222Tyr)
ClinVar dbSNP
16g.89919923C>ACA286607591MC1Rc.665C>A (p.Ala222Asp)
dbSNP
16g.89919923C=CA2242009715MC1Rc.665C= (p.Ala222=)
16g.89919923C>GCA397462657MC1Rc.665C>G (p.Ala222Gly)
16g.89919923C>TCA397462660MC1Rc.665C>T (p.Ala222Val)
gnomAD v4
16g.89919924C>ACA497381091MC1Rc.666C>A (p.Ala222=)
16g.89919924C=CA2242009716MC1Rc.666C= (p.Ala222=)
16g.89919924C>GCA497381092MC1Rc.666C>G (p.Ala222=)
dbSNP gnomAD v3 gnomAD v4
16g.89919924C>TCA497381094MC1Rc.666C>T (p.Ala222=)
16g.89919925C>ACA8255705MC1Rc.667C>A (p.Arg223=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919925C=CA2242009717MC1Rc.667C= (p.Arg223=)
16g.89919925C>GCA8255706MC1Rc.667C>G (p.Arg223Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919925C>TCA8255704MC1Rc.667C>T (p.Arg223Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89919926G>ACA8255707MC1Rc.668G>A (p.Arg223Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919926G>CCA397462669MC1Rc.668G>C (p.Arg223Pro)
16g.89919926G=CA2242009718MC1Rc.668G= (p.Arg223=)
16g.89919926G>TCA397462671MC1Rc.668G>T (p.Arg223Leu)
gnomAD v4
16g.89919927G>ACA497381101MC1Rc.669G>A (p.Arg223=)
dbSNP gnomAD v4
16g.89919927G>CCA497381103MC1Rc.669G>C (p.Arg223=)
dbSNP
16g.89919927G=CA2242009719MC1Rc.669G= (p.Arg223=)
16g.89919927G>TCA497381105MC1Rc.669G>T (p.Arg223=)
gnomAD v4
16g.89919928C>ACA397462674MC1Rc.670C>A (p.Leu224Ile)
16g.89919928C=CA2242009720MC1Rc.670C= (p.Leu224=)
16g.89919928C>GCA397462677MC1Rc.670C>G (p.Leu224Val)
gnomAD v4
16g.89919928C>TCA8255708MC1Rc.670C>T (p.Leu224Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89919929T>ACA397462679MC1Rc.671T>A (p.Leu224His)
16g.89919929T>CCA397462685MC1Rc.671T>C (p.Leu224Pro)
16g.89919929T>GCA397462681MC1Rc.671T>G (p.Leu224Arg)
16g.89919930C>ACA497381108MC1Rc.672C>A (p.Leu224=)
16g.89919930C=CA2242009721MC1Rc.672C= (p.Leu224=)
16g.89919930C>GCA497381110MC1Rc.672C>G (p.Leu224=)
16g.89919930C>TCA8255709MC1Rc.672C>T (p.Leu224=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89919931_89919933delCA2576104036MC1Rc.673_675del (p.His225del)
16g.89919931C>ACA397462695MC1Rc.673C>A (p.His225Asn)
16g.89919931C>GCA397462690MC1Rc.673C>G (p.His225Asp)
16g.89919931C>TCA397462693MC1Rc.673C>T (p.His225Tyr)
16g.89919932A=CA2242009722MC1Rc.674A= (p.His225=)
16g.89919932A>CCA397462698MC1Rc.674A>C (p.His225Pro)
16g.89919932A>GCA397462700MC1Rc.674A>G (p.His225Arg)
dbSNP gnomAD v4
16g.89919932A>TCA397462703MC1Rc.674A>T (p.His225Leu)

Number of alleles fetched