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.89920115_89920142delCA624455327MC1Rc.857_884del (p.Leu286ProfsTer19)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920144delCA2242009865MC1Rc.886del (p.Leu296SerfsTer18)
dbSNP
16g.89920141C>ACA397463694MC1Rc.883C>A (p.Pro295Thr)
16g.89920141C=CA2242009867MC1Rc.883C= (p.Pro295=)
16g.89920141C>GCA397463697MC1Rc.883C>G (p.Pro295Ala)
ClinVar dbSNP
16g.89920141C>TCA286607714MC1Rc.883C>T (p.Pro295Ser)
ClinVar dbSNP gnomAD v4
16g.89920142C>ACA397463700MC1Rc.884C>A (p.Pro295His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920142C=CA2242009868MC1Rc.884C= (p.Pro295=)
16g.89920142C>GCA397463702MC1Rc.884C>G (p.Pro295Arg)
16g.89920142C>TCA397463703MC1Rc.884C>T (p.Pro295Leu)
gnomAD v4
16g.89920143C>ACA497380602MC1Rc.885C>A (p.Pro295=)
16g.89920143C=CA2242009869MC1Rc.885C= (p.Pro295=)
16g.89920143C>GCA8255794MC1Rc.885C>G (p.Pro295=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920143C>TCA497380603MC1Rc.885C>T (p.Pro295=)
16g.89920143_89920145delinsCCTCA2242009870MC1Rc.885_887delinsCCT (p.Pro295=)
16g.89920144C>ACA397463705MC1Rc.886C>A (p.Leu296Ile)
gnomAD v4
16g.89920144C=CA2242009871MC1Rc.886C= (p.Leu296=)
16g.89920144C>GCA397463707MC1Rc.886C>G (p.Leu296Val)
dbSNP gnomAD v2 gnomAD v4
16g.89920144C>TCA397463710MC1Rc.886C>T (p.Leu296Phe)
16g.89920145_89920146delCA624455424MC1Rc.887_888del (p.Leu296HisfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920144_89920145insCCCAACCAAACACACCCAACACA2808106409MC1Rc.886_887insCCCAACCAAACACACCCAACA (p.Leu296delinsProGlnProAsnThrProAsnIle)
16g.89920145T>ACA397463712MC1Rc.887T>A (p.Leu296His)
16g.89920145T>CCA397463716MC1Rc.887T>C (p.Leu296Pro)
16g.89920145T>GCA397463721MC1Rc.887T>G (p.Leu296Arg)
16g.89920146C>ACA497380609MC1Rc.888C>A (p.Leu296=)
16g.89920146C=CA2242009872MC1Rc.888C= (p.Leu296=)
16g.89920146C>GCA497380611MC1Rc.888C>G (p.Leu296=)
16g.89920146C>TCA286607717MC1Rc.888C>T (p.Leu296=)
dbSNP gnomAD v2 gnomAD v4
16g.89920146_89920147insGAGCA624455425MC1Rc.888_889insGAG (p.Leu296_Ile297insGlu)
gnomAD v2 gnomAD v3 gnomAD v4
16g.89920147A=CA2242009873MC1Rc.889A= (p.Ile297=)
16g.89920147A>CCA397463732MC1Rc.889A>C (p.Ile297Leu)
16g.89920147A>GCA8255795MC1Rc.889A>G (p.Ile297Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920147A>TCA397463731MC1Rc.889A>T (p.Ile297Phe)
16g.89920148T>ACA397463737MC1Rc.890T>A (p.Ile297Asn)
16g.89920148T>CCA397463740MC1Rc.890T>C (p.Ile297Thr)
16g.89920148T>GCA397463742MC1Rc.890T>G (p.Ile297Ser)
16g.89920149C>ACA497380616MC1Rc.891C>A (p.Ile297=)
16g.89920149C=CA2242009874MC1Rc.891C= (p.Ile297=)
16g.89920149C>GCA397463743MC1Rc.891C>G (p.Ile297Met)
gnomAD v4
16g.89920149C>TCA497380617MC1Rc.891C>T (p.Ile297=)
dbSNP
16g.89920150T>ACA397463745MC1Rc.892T>A (p.Tyr298Asn)
16g.89920150T>CCA8255796MC1Rc.892T>C (p.Tyr298His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920150T>GCA8255797MC1Rc.892T>G (p.Tyr298Asp)
dbSNP ExAC gnomAD v2
16g.89920150T=CA2242009875MC1Rc.892T= (p.Tyr298=)
16g.89920151A=CA2242009876MC1Rc.893A= (p.Tyr298=)
16g.89920151A>CCA397463751MC1Rc.893A>C (p.Tyr298Ser)
dbSNP gnomAD v2 gnomAD v4
16g.89920151A>GCA397463752MC1Rc.893A>G (p.Tyr298Cys)
16g.89920151A>TCA397463754MC1Rc.893A>T (p.Tyr298Phe)
dbSNP
16g.89920152C>ACA397463758MC1Rc.894C>A (p.Tyr298Ter)
gnomAD v4
16g.89920152C=CA2242009877MC1Rc.894C= (p.Tyr298=)
16g.89920152C>GCA8255800MC1Rc.894C>G (p.Tyr298Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920152C>TCA8255799MC1Rc.894C>T (p.Tyr298=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920152_89920153insATCGACCCCCTCATCCTGCA8255798MC1Rc.894_895insATCGACCCCCTCATCCTG (p.Tyr298_Ala299insIleAspProLeuIleLeu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920153G>ACA8255802MC1Rc.895G>A (p.Ala299Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920153G>CCA397463761MC1Rc.895G>C (p.Ala299Pro)
16g.89920153G=CA2242009878MC1Rc.895G= (p.Ala299=)
16g.89920153G>TCA8255801MC1Rc.895G>T (p.Ala299Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920154C>ACA397463765MC1Rc.896C>A (p.Ala299Asp)
16g.89920154C=CA2242009879MC1Rc.896C= (p.Ala299=)
16g.89920154C>GCA397463766MC1Rc.896C>G (p.Ala299Gly)
16g.89920154C>TCA8255803MC1Rc.896C>T (p.Ala299Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920155C>ACA497380631MC1Rc.897C>A (p.Ala299=)
16g.89920155C=CA2242009880MC1Rc.897C= (p.Ala299=)
16g.89920155C>GCA8255804MC1Rc.897C>G (p.Ala299=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920155C>TCA497380630MC1Rc.897C>T (p.Ala299=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920156T>ACA397463773MC1Rc.898T>A (p.Phe300Ile)
16g.89920156T>CCA397463776MC1Rc.898T>C (p.Phe300Leu)
16g.89920156T>GCA397463779MC1Rc.898T>G (p.Phe300Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920156T=CA2242009881MC1Rc.898T= (p.Phe300=)
16g.89920157T>ACA397463781MC1Rc.899T>A (p.Phe300Tyr)
16g.89920157T>CCA397463784MC1Rc.899T>C (p.Phe300Ser)
16g.89920157T>GCA8255805MC1Rc.899T>G (p.Phe300Cys)
dbSNP ExAC gnomAD v2
16g.89920157T=CA2242009882MC1Rc.899T= (p.Phe300=)
16g.89920158C>ACA397463792MC1Rc.900C>A (p.Phe300Leu)
16g.89920158C=CA2242009883MC1Rc.900C= (p.Phe300=)
16g.89920158C>GCA397463794MC1Rc.900C>G (p.Phe300Leu)
gnomAD v4
16g.89920158C>TCA8255806MC1Rc.900C>T (p.Phe300=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920158_89920159delinsTTCA645578194MC1Rc.900_901delinsTT (p.His301Tyr)
COSMIC
16g.89920159dupCA624455426MC1Rc.901dup (p.His301ProfsTer?)
gnomAD v2 gnomAD v4
16g.89920159C>ACA397463804MC1Rc.901C>A (p.His301Asn)
16g.89920159C>GCA397463797MC1Rc.901C>G (p.His301Asp)
16g.89920159C>TCA397463800MC1Rc.901C>T (p.His301Tyr)
16g.89920160A=CA2242009884MC1Rc.902A= (p.His301=)
16g.89920160A>CCA397463807MC1Rc.902A>C (p.His301Pro)
16g.89920160A>GCA397463809MC1Rc.902A>G (p.His301Arg)
dbSNP gnomAD v4
16g.89920160A>TCA397463812MC1Rc.902A>T (p.His301Leu)
16g.89920161C>ACA397463815MC1Rc.903C>A (p.His301Gln)
16g.89920161C=CA2242009885MC1Rc.903C= (p.His301=)
16g.89920161C>GCA397463817MC1Rc.903C>G (p.His301Gln)
16g.89920161C>TCA8255807MC1Rc.903C>T (p.His301=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920162A>CCA397463819MC1Rc.904A>C (p.Ser302Arg)
16g.89920162A>GCA397463821MC1Rc.904A>G (p.Ser302Gly)
16g.89920162A>TCA397463824MC1Rc.904A>T (p.Ser302Cys)
16g.89920163G>ACA397463826MC1Rc.905G>A (p.Ser302Asn)
gnomAD v4
16g.89920163G>CCA397463829MC1Rc.905G>C (p.Ser302Thr)
16g.89920163G>TCA397463837MC1Rc.905G>T (p.Ser302Ile)
16g.89920164C>ACA397463841MC1Rc.906C>A (p.Ser302Arg)
gnomAD v4 COSMIC
16g.89920164C=CA2242009886MC1Rc.906C= (p.Ser302=)
16g.89920164C>GCA397463838MC1Rc.906C>G (p.Ser302Arg)
16g.89920164C>TCA497380641MC1Rc.906C>T (p.Ser302=)
dbSNP gnomAD v2 gnomAD v4
16g.89920165C>ACA397463844MC1Rc.907C>A (p.Gln303Lys)
dbSNP
16g.89920165C=CA2242009887MC1Rc.907C= (p.Gln303=)
16g.89920165C>GCA397463847MC1Rc.907C>G (p.Gln303Glu)
16g.89920165C>TCA397463858MC1Rc.907C>T (p.Gln303Ter)
16g.89920166A=CA2242009888MC1Rc.908A= (p.Gln303=)
16g.89920166A>CCA397463862MC1Rc.908A>C (p.Gln303Pro)
16g.89920166A>GCA8255808MC1Rc.908A>G (p.Gln303Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920166A>TCA397463866MC1Rc.908A>T (p.Gln303Leu)
16g.89920167G>ACA497380643MC1Rc.909G>A (p.Gln303=)
dbSNP
16g.89920167G>CCA397463868MC1Rc.909G>C (p.Gln303His)
16g.89920167G=CA2242009889MC1Rc.909G= (p.Gln303=)
16g.89920167G>TCA397463869MC1Rc.909G>T (p.Gln303His)
16g.89920168G>ACA8255809MC1Rc.910G>A (p.Glu304Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920168G>CCA397463870MC1Rc.910G>C (p.Glu304Gln)
16g.89920168G=CA2242009890MC1Rc.910G= (p.Glu304=)
16g.89920168G>TCA397463871MC1Rc.910G>T (p.Glu304Ter)
gnomAD v4
16g.89920169A=CA2242009891MC1Rc.911A= (p.Glu304=)
16g.89920169A>CCA397463872MC1Rc.911A>C (p.Glu304Ala)
16g.89920169A>GCA397463874MC1Rc.911A>G (p.Glu304Gly)
16g.89920169A>TCA8255810MC1Rc.911A>T (p.Glu304Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920170G>ACA497380651MC1Rc.912G>A (p.Glu304=)
16g.89920170G>CCA397463877MC1Rc.912G>C (p.Glu304Asp)
16g.89920170G=CA2242009892MC1Rc.912G= (p.Glu304=)
16g.89920170G>TCA397463879MC1Rc.912G>T (p.Glu304Asp)
dbSNP
16g.89920171C>ACA397463883MC1Rc.913C>A (p.Leu305Ile)
16g.89920171C=CA2242009894MC1Rc.913C= (p.Leu305=)
16g.89920171C>GCA397463889MC1Rc.913C>G (p.Leu305Val)
dbSNP gnomAD v3 gnomAD v4
16g.89920171C>TCA397463887MC1Rc.913C>T (p.Leu305Phe)
16g.89920171dupCA2242009893MC1Rc.913dup (p.Leu305ProfsTer30)
c.913dup (p.Leu305ProfsTer?)
dbSNP
16g.89920172T>ACA397463892MC1Rc.914T>A (p.Leu305His)
16g.89920172T>CCA397463893MC1Rc.914T>C (p.Leu305Pro)
16g.89920172T>GCA8255811MC1Rc.914T>G (p.Leu305Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920172T=CA2242009895MC1Rc.914T= (p.Leu305=)
16g.89920173C>ACA497380656MC1Rc.915C>A (p.Leu305=)
16g.89920173C>GCA497380654MC1Rc.915C>G (p.Leu305=)
16g.89920173C>TCA497380653MC1Rc.915C>T (p.Leu305=)
16g.89920174C>ACA397463894MC1Rc.916C>A (p.Arg306Ser)
16g.89920174C=CA2242009896MC1Rc.916C= (p.Arg306=)
16g.89920174C>GCA397463895MC1Rc.916C>G (p.Arg306Gly)
gnomAD v4
16g.89920174C>TCA8255812MC1Rc.916C>T (p.Arg306Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89920175G>ACA8255813MC1Rc.917G>A (p.Arg306His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920175G>CCA397463899MC1Rc.917G>C (p.Arg306Pro)
16g.89920175G=CA2242009897MC1Rc.917G= (p.Arg306=)
16g.89920175G>TCA397463901MC1Rc.917G>T (p.Arg306Leu)
16g.89920176_89920178delCA2635067718MC1Rc.918_920del (p.Arg307del)
gnomAD v4
16g.89920176C>ACA497380658MC1Rc.918C>A (p.Arg306=)
16g.89920176C>GCA497380659MC1Rc.918C>G (p.Arg306=)
16g.89920176C>TCA497380661MC1Rc.918C>T (p.Arg306=)
16g.89920176_89920179delinsCAGGCA2242009898MC1Rc.918_921delinsCAGG (p.Arg306=)
16g.89920177A>CCA497380662MC1Rc.919A>C (p.Arg307=)
16g.89920177A>GCA397463903MC1Rc.919A>G (p.Arg307Gly)
gnomAD v4
16g.89920177A>TCA397463906MC1Rc.919A>T (p.Arg307Trp)
16g.89920178_89920180delCA919769666MC1Rc.920_922del (p.Arg307del)
dbSNP gnomAD v3 gnomAD v4
16g.89920177_89920181delinsAGGACCA2242009899MC1Rc.919_923delinsAGGAC (p.Arg307=)
16g.89920178G>ACA397463918MC1Rc.920G>A (p.Arg307Lys)
16g.89920178G>CCA397463911MC1Rc.920G>C (p.Arg307Thr)
16g.89920178G>TCA397463909MC1Rc.920G>T (p.Arg307Met)
16g.89920178_89920181delinsCTCA1139665005MC1Rc.920_923delinsCT (p.Arg307ThrfsTer27)
c.920_923delinsCT (p.Arg307ThrfsTer?)
ClinVar dbSNP
16g.89920179G>ACA497380670MC1Rc.921G>A (p.Arg307=)
16g.89920179G>CCA397463919MC1Rc.921G>C (p.Arg307Ser)
16g.89920179G=CA2242009900MC1Rc.921G= (p.Arg307=)
16g.89920179G>TCA397463922MC1Rc.921G>T (p.Arg307Ser)
dbSNP gnomAD v3 gnomAD v4
16g.89920180delCA2733059858MC1Rc.922del (p.Thr308ArgfsTer6)
dbSNP
16g.89920180A>CCA397463924MC1Rc.922A>C (p.Thr308Pro)
16g.89920180A>GCA397463925MC1Rc.922A>G (p.Thr308Ala)
16g.89920180A>TCA397463929MC1Rc.922A>T (p.Thr308Ser)
16g.89920181C>ACA397463935MC1Rc.923C>A (p.Thr308Lys)
16g.89920181C=CA2242009901MC1Rc.923C= (p.Thr308=)
16g.89920181C>GCA397463936MC1Rc.923C>G (p.Thr308Arg)
16g.89920181C>TCA8255814MC1Rc.923C>T (p.Thr308Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920181_89920182insTCA919769667MC1Rc.923_924insT (p.Leu309AlafsTer26)
c.923_924insT (p.Leu309AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
16g.89920182G>ACA8255816MC1Rc.924G>A (p.Thr308=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920182G>CCA497380677MC1Rc.924G>C (p.Thr308=)
16g.89920182G=CA2242009902MC1Rc.924G= (p.Thr308=)
16g.89920182G>TCA8255815MC1Rc.924G>T (p.Thr308=)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920183C>ACA397463948MC1Rc.925C>A (p.Leu309Ile)
dbSNP gnomAD v2 gnomAD v4
16g.89920183C=CA2242009903MC1Rc.925C= (p.Leu309=)
16g.89920183C>GCA397463951MC1Rc.925C>G (p.Leu309Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.89920183C>TCA397463952MC1Rc.925C>T (p.Leu309Phe)
16g.89920184T>ACA397463955MC1Rc.926T>A (p.Leu309His)
16g.89920184T>CCA397463958MC1Rc.926T>C (p.Leu309Pro)
16g.89920184T>GCA397463956MC1Rc.926T>G (p.Leu309Arg)
gnomAD v4
16g.89920185C>ACA497380684MC1Rc.927C>A (p.Leu309=)
16g.89920185C=CA2242009904MC1Rc.927C= (p.Leu309=)
16g.89920185C>GCA497380686MC1Rc.927C>G (p.Leu309=)
ClinVar dbSNP gnomAD v4
16g.89920185C>TCA497380687MC1Rc.927C>T (p.Leu309=)
dbSNP gnomAD v2 gnomAD v4
16g.89920186A=CA2242009905MC1Rc.928A= (p.Lys310=)
16g.89920186A>CCA286607737MC1Rc.928A>C (p.Lys310Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920186A>GCA397463968MC1Rc.928A>G (p.Lys310Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920186A>TCA397463966MC1Rc.928A>T (p.Lys310Ter)
16g.89920186_89920188delCA2600730871MC1Rc.928_930del (p.Lys310del)
gnomAD v3 gnomAD v4
16g.89920187A=CA2242009906MC1Rc.929A= (p.Lys310=)
16g.89920187A>CCA397463976MC1Rc.929A>C (p.Lys310Thr)
16g.89920187A>GCA8255817MC1Rc.929A>G (p.Lys310Arg)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.89920187A>TCA397463978MC1Rc.929A>T (p.Lys310Met)
16g.89920190_89920192delCA2635067767MC1Rc.932_934del (p.Glu311del)
gnomAD v4
16g.89920188G>ACA497380690MC1Rc.930G>A (p.Lys310=)
16g.89920188G>CCA397463980MC1Rc.930G>C (p.Lys310Asn)
16g.89920188G>TCA397463981MC1Rc.930G>T (p.Lys310Asn)
16g.89920189G>ACA397463983MC1Rc.931G>A (p.Glu311Lys)
16g.89920189G>CCA397463986MC1Rc.931G>C (p.Glu311Gln)
16g.89920189G>TCA397463990MC1Rc.931G>T (p.Glu311Ter)
gnomAD v4
16g.89920190A>CCA397463991MC1Rc.932A>C (p.Glu311Ala)
16g.89920190A>GCA397463993MC1Rc.932A>G (p.Glu311Gly)
16g.89920190A>TCA397463997MC1Rc.932A>T (p.Glu311Val)
16g.89920191G>ACA497380700MC1Rc.933G>A (p.Glu311=)
16g.89920191G>CCA397463999MC1Rc.933G>C (p.Glu311Asp)
16g.89920191G>TCA397464000MC1Rc.933G>T (p.Glu311Asp)
16g.89920192G>ACA397464008MC1Rc.934G>A (p.Val312Met)
16g.89920192G>CCA397464003MC1Rc.934G>C (p.Val312Leu)
16g.89920192G>TCA397464005MC1Rc.934G>T (p.Val312Leu)
16g.89920193T>ACA397464010MC1Rc.935T>A (p.Val312Glu)
gnomAD v4
16g.89920193T>CCA8255818MC1Rc.935T>C (p.Val312Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920193T>GCA397464012MC1Rc.935T>G (p.Val312Gly)
gnomAD v4
16g.89920193T=CA2242009907MC1Rc.935T= (p.Val312=)
16g.89920194G>ACA497380706MC1Rc.936G>A (p.Val312=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920194G>CCA497380708MC1Rc.936G>C (p.Val312=)
16g.89920194G=CA2242009908MC1Rc.936G= (p.Val312=)
16g.89920194G>TCA497380707MC1Rc.936G>T (p.Val312=)
16g.89920195C>ACA397464013MC1Rc.937C>A (p.Leu313Met)
16g.89920195C=CA2242009909MC1Rc.937C= (p.Leu313=)
16g.89920195C>GCA397464015MC1Rc.937C>G (p.Leu313Val)
16g.89920195C>TCA497380709MC1Rc.937C>T (p.Leu313=)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.89920196T>ACA397464019MC1Rc.938T>A (p.Leu313Gln)
16g.89920196T>CCA397464021MC1Rc.938T>C (p.Leu313Pro)
16g.89920196T>GCA397464023MC1Rc.938T>G (p.Leu313Arg)
gnomAD v4
16g.89920197G>ACA497380713MC1Rc.939G>A (p.Leu313=)
dbSNP
16g.89920197G>CCA497380715MC1Rc.939G>C (p.Leu313=)
ClinVar
16g.89920197G=CA2242009910MC1Rc.939G= (p.Leu313=)
16g.89920197G>TCA497380716MC1Rc.939G>T (p.Leu313=)
16g.89920198A>CCA397464026MC1Rc.940A>C (p.Thr314Pro)
16g.89920198A>GCA397464028MC1Rc.940A>G (p.Thr314Ala)
16g.89920198A>TCA397464031MC1Rc.940A>T (p.Thr314Ser)
16g.89920199C>ACA286607742MC1Rc.941C>A (p.Thr314Lys)
dbSNP
16g.89920199C=CA2242009911MC1Rc.941C= (p.Thr314=)
16g.89920199C>GCA397464038MC1Rc.941C>G (p.Thr314Arg)
16g.89920199C>TCA8255819MC1Rc.941C>T (p.Thr314Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920200A=CA2242009912MC1Rc.942A= (p.Thr314=)
16g.89920200A>CCA497380724MC1Rc.942A>C (p.Thr314=)
16g.89920200A>GCA8255820MC1Rc.942A>G (p.Thr314=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920200A>TCA497380726MC1Rc.942A>T (p.Thr314=)
16g.89920201T>ACA397464044MC1Rc.943T>A (p.Cys315Ser)
16g.89920201T>CCA8255821MC1Rc.943T>C (p.Cys315Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920201T>GCA397464047MC1Rc.943T>G (p.Cys315Gly)
16g.89920201T=CA2242009913MC1Rc.943T= (p.Cys315=)
16g.89920202G>ACA397464050MC1Rc.944G>A (p.Cys315Tyr)
gnomAD v4
16g.89920202G>CCA8255822MC1Rc.944G>C (p.Cys315Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920202G=CA2242009914MC1Rc.944G= (p.Cys315=)
16g.89920202G>TCA397464058MC1Rc.944G>T (p.Cys315Phe)
16g.89920203C>ACA397464059MC1Rc.945C>A (p.Cys315Ter)
16g.89920203C=CA2242009915MC1Rc.945C= (p.Cys315=)
16g.89920203C>GCA397464061MC1Rc.945C>G (p.Cys315Trp)
16g.89920203C>TCA497380735MC1Rc.945C>T (p.Cys315=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920204T>ACA397464065MC1Rc.946T>A (p.Ser316Thr)
16g.89920204T>CCA397464066MC1Rc.946T>C (p.Ser316Pro)
ClinVar dbSNP gnomAD v4
16g.89920204T>GCA397464067MC1Rc.946T>G (p.Ser316Ala)
16g.89920204T=CA2242009916MC1Rc.946T= (p.Ser316=)
16g.89920205C>ACA397464069MC1Rc.947C>A (p.Ser316Tyr)
16g.89920205C>GCA397464072MC1Rc.947C>G (p.Ser316Cys)
16g.89920205C>TCA397464068MC1Rc.947C>T (p.Ser316Phe)
gnomAD v4
16g.89920206C>ACA497380739MC1Rc.948C>A (p.Ser316=)
16g.89920206C=CA2242009917MC1Rc.948C= (p.Ser316=)
16g.89920206C>GCA497380740MC1Rc.948C>G (p.Ser316=)
16g.89920206C>TCA8255823MC1Rc.948C>T (p.Ser316=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920207T>ACA397464075MC1Rc.949T>A (p.Trp317Arg)
c.949T>A (p.Cys317Ser)
16g.89920207T>CCA8255824MC1Rc.949T>C (p.Trp317Arg)
c.949T>C (p.Cys317Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89920207T>GCA397464079MC1Rc.949T>G (p.Trp317Gly)
c.949T>G (p.Cys317Gly)
16g.89920207T=CA2242009918MC1Rc.949T= (p.Trp317=)
c.949T= (p.Cys317=)
16g.89920207_89920216delinsTGGTGAGCGCCA2242009919MC1Rc.949_*4delinsTGGTGAGCGC (n.[c.949_*4delinsTGGTGAGCGC;Trp317=])
c.949_950+8delinsTGGTGAGCGC
16g.89920208G>ACA397464097MC1Rc.950G>A (p.Trp317Ter)
c.950G>A (p.Cys317Tyr)
16g.89920208G>CCA397464094MC1Rc.950G>C (p.Trp317Ser)
c.950G>C (p.Cys317Ser)
16g.89920208G=CA2242009921MC1Rc.950G= (p.Trp317=)
c.950G= (p.Cys317=)
16g.89920208G>TCA397464088MC1Rc.950G>T (p.Trp317Leu)
c.950G>T (p.Cys317Phe)
dbSNP gnomAD v2 gnomAD v4
16g.89920209dupCA2580092419MC1Rc.951dup (p.Ter318ValextTer17)
c.950+1dup
ClinVar
16g.89920209delCA2635067806MC1Rc.951del (p.Trp317CysfsTer26)
c.950+1del
gnomAD v4
16g.89920212_89920220delCA2242009920MC1Rc.954_*8del (n.[c.954_*8del;Ter318CysextTer5])
c.950+4_950+12del
ClinVar dbSNP
16g.89920209G>ACA397464100MC1Rc.951G>A (p.Trp317Ter)
c.950+1G>A (n.950+1G>A)
ClinVar
16g.89920209G>CCA286607750MC1Rc.951G>C (p.Trp317Cys)
c.950+1G>C (n.950+1G>C)
dbSNP
16g.89920209G=CA2242009922MC1Rc.951G= (p.Trp317=)
c.950+1G= (n.950+1G=)
16g.89920209G>TCA8255825MC1Rc.951G>T (p.Trp317Cys)
c.950+1G>T (n.950+1G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.89920210T>ACA397464109MC1Rc.952T>A (p.Ter318Arg)
c.950+2T>A (n.950+2T>A)
16g.89920210T>CCA397464112MC1Rc.952T>C (p.Ter318Arg)
c.950+2T>C (n.950+2T>C)
16g.89920210T>GCA397464115MC1Rc.952T>G (p.Ter318Gly)
c.950+2T>G (n.950+2T>G)
16g.89920211G>ACA8255826MC1Rc.953G>A (p.Ter318=)
c.950+3G>A (n.950+3G>A)
dbSNP ExAC gnomAD v2
16g.89920211G>CCA397464124MC1Rc.953G>C (p.Ter318Ser)
c.950+3G>C (n.950+3G>C)
16g.89920211G=CA2242009923MC1Rc.953G= (p.Ter318=)
c.950+3G= (n.950+3G=)
16g.89920211G>TCA397464121MC1Rc.953G>T (p.Ter318Leu)
c.950+3G>T (n.950+3G>T)
16g.89920212A>CCA397464128MC1Rc.954A>C (p.Ter318Cys)
c.950+4A>C (n.950+4A>C)
16g.89920212A>GCA397464132MC1Rc.954A>G (p.Ter318Trp)
c.950+4A>G (n.950+4A>G)
16g.89920212A>TCA397464129MC1Rc.954A>T (p.Ter318Cys)
c.950+4A>T (n.950+4A>T)
16g.89920213G>ACA497380750MC1Rc.*1G>A (n.*1G>A)
c.950+5G>A (n.950+5G>A)
16g.89920213G>CCA497380751MC1Rc.*1G>C (n.*1G>C)
c.950+5G>C (n.950+5G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920213G=CA2242009924MC1Rc.*1G= (n.*1G=)
c.950+5G= (n.950+5G=)
16g.89920213G>TCA497380752MC1Rc.*1G>T (n.*1G>T)
c.950+5G>T (n.950+5G>T)
16g.89920214C>ACA497380753MC1Rc.*2C>A (n.*2C>A)
c.950+6C>A (n.950+6C>A)
gnomAD v4
16g.89920214C=CA2242009925MC1Rc.*2C= (n.*2C=)
c.950+6C= (n.950+6C=)
16g.89920214C>GCA497380754MC1Rc.*2C>G (n.*2C>G)
c.950+6C>G (n.950+6C>G)
16g.89920214C>TCA8255827MC1Rc.*2C>T (n.*2C>T)
c.950+6C>T (n.950+6C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920215G>ACA497380756MC1Rc.*3G>A (n.*3G>A)
c.950+7G>A (n.950+7G>A)
dbSNP gnomAD v2 gnomAD v4
16g.89920215G>CCA497380759MC1Rc.*3G>C (n.*3G>C)
c.950+7G>C (n.950+7G>C)
16g.89920215G=CA2242009926MC1Rc.*3G= (n.*3G=)
c.950+7G= (n.950+7G=)
16g.89920215G>TCA497380758MC1Rc.*3G>T (n.*3G>T)
c.950+7G>T (n.950+7G>T)
16g.89920216C>ACA497380760MC1Rc.*4C>A (n.*4C>A)
c.950+8C>A (n.950+8C>A)
gnomAD v4
16g.89920216C=CA2242009927MC1Rc.*4C= (n.*4C=)
c.950+8C= (n.950+8C=)
16g.89920216C>GCA497380761MC1Rc.*4C>G (n.*4C>G)
c.950+8C>G (n.950+8C>G)
16g.89920216C>TCA286607754MC1Rc.*4C>T (n.*4C>T)
c.950+8C>T (n.950+8C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920217G>ACA497380762MC1Rc.*5G>A (n.*5G>A)
c.950+9G>A (n.950+9G>A)
dbSNP gnomAD v3 gnomAD v4
16g.89920217G>CCA497380763MC1Rc.*5G>C (n.*5G>C)
c.950+9G>C (n.950+9G>C)
16g.89920217G=CA2242009928MC1Rc.*5G= (n.*5G=)
c.950+9G= (n.950+9G=)
16g.89920217G>TCA497380764MC1Rc.*5G>T (n.*5G>T)
c.950+9G>T (n.950+9G>T)
16g.89920218G>ACA497380765MC1Rc.*6G>A (n.*6G>A)
c.950+10G>A (n.950+10G>A)
dbSNP
16g.89920218G>CCA497380766MC1Rc.*6G>C (n.*6G>C)
c.950+10G>C (n.950+10G>C)
16g.89920218G>TCA497380767MC1Rc.*6G>T (n.*6G>T)
c.950+10G>T (n.950+10G>T)
gnomAD v4
16g.89920219T>ACA497380771MC1Rc.*7T>A (n.*7T>A)
c.950+11T>A (n.950+11T>A)
16g.89920219T>CCA497380773MC1Rc.*7T>C (n.*7T>C)
c.950+11T>C (n.950+11T>C)
gnomAD v4
16g.89920219T>GCA497380774MC1Rc.*7T>G (n.*7T>G)
c.950+11T>G (n.950+11T>G)
16g.89920220G>ACA497380779MC1Rc.*8G>A (n.*8G>A)
c.950+12G>A (n.950+12G>A)
16g.89920220G>CCA497380777MC1Rc.*8G>C (n.*8G>C)
c.950+12G>C (n.950+12G>C)
16g.89920220G>TCA497380775MC1Rc.*8G>T (n.*8G>T)
c.950+12G>T (n.950+12G>T)
16g.89920221C>ACA497380780MC1Rc.*9C>A (n.*9C>A)
c.950+13C>A (n.950+13C>A)
16g.89920221C>GCA497380781MC1Rc.*9C>G (n.*9C>G)
c.950+13C>G (n.950+13C>G)
16g.89920221C>TCA497380782MC1Rc.*9C>T (n.*9C>T)
c.950+13C>T (n.950+13C>T)
gnomAD v4
16g.89920222_89920223delCA2576104040MC1Rc.*10_*11del (n.*10_*11del)
c.950+14_950+15del (n.950+14_950+15del)
16g.89920222A>CCA497380783MC1Rc.*10A>C (n.*10A>C)
c.950+14A>C (n.950+14A>C)
16g.89920222A>GCA497380784MC1Rc.*10A>G (n.*10A>G)
c.950+14A>G (n.950+14A>G)
16g.89920222A>TCA497380785MC1Rc.*10A>T (n.*10A>T)
c.950+14A>T (n.950+14A>T)
16g.89920223C>ACA497380786MC1Rc.*11C>A (n.*11C>A)
c.950+15C>A (n.950+15C>A)
gnomAD v4
16g.89920223C=CA2242009929MC1Rc.*11C= (n.*11C=)
c.950+15C= (n.950+15C=)
16g.89920223C>GCA497380787MC1Rc.*11C>G (n.*11C>G)
c.950+15C>G (n.950+15C>G)
dbSNP gnomAD v4
16g.89920223C>TCA8255828MC1Rc.*11C>T (n.*11C>T)
c.950+15C>T (n.950+15C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920224G>ACA8255829MC1Rc.*12G>A (n.*12G>A)
c.950+16G>A (n.950+16G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920224G>CCA497380788MC1Rc.*12G>C (n.*12G>C)
c.950+16G>C (n.950+16G>C)
16g.89920224G=CA2242009930MC1Rc.*12G= (n.*12G=)
c.950+16G= (n.950+16G=)
16g.89920224G>TCA497380789MC1Rc.*12G>T (n.*12G>T)
c.950+16G>T (n.950+16G>T)
gnomAD v4
16g.89920225C>ACA497380792MC1Rc.*13C>A (n.*13C>A)
c.950+17C>A (n.950+17C>A)
16g.89920225C=CA2242009931MC1Rc.*13C= (n.*13C=)
c.950+17C= (n.950+17C=)
16g.89920225C>GCA497380795MC1Rc.*13C>G (n.*13C>G)
c.950+17C>G (n.950+17C>G)
gnomAD v4
16g.89920225C>TCA8255830MC1Rc.*13C>T (n.*13C>T)
c.950+17C>T (n.950+17C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920226G>ACA8255831MC1Rc.*14G>A (n.*14G>A)
c.950+18G>A (n.950+18G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920226G>CCA497380800MC1Rc.*14G>C (n.*14G>C)
c.950+18G>C (n.950+18G>C)
16g.89920226G=CA2242009932MC1Rc.*14G= (n.*14G=)
c.950+18G= (n.950+18G=)
16g.89920226G>TCA497380802MC1Rc.*14G>T (n.*14G>T)
c.950+18G>T (n.950+18G>T)
16g.89920226_89920245delinsGGCTTTAAGTGTGCTGGGCACA2242009933MC1Rc.*14_*33delinsGGCTTTAAGTGTGCTGGGCA (n.*14_*33delinsGGCTTTAAGTGTGCTGGGCA)
c.950+18_950+37delinsGGCTTTAAGTGTGCTGGGCA (n.950+18_950+37delinsGGCTTTAAGTGTGCTGGGCA)
16g.89920227G>ACA497380804MC1Rc.*15G>A (n.*15G>A)
c.950+19G>A (n.950+19G>A)
gnomAD v4
16g.89920227G>CCA497380807MC1Rc.*15G>C (n.*15G>C)
c.950+19G>C (n.950+19G>C)
16g.89920227G>TCA497380808MC1Rc.*15G>T (n.*15G>T)
c.950+19G>T (n.950+19G>T)
16g.89920228_89920246delCA8255832MC1Rc.*16_*34del (n.*16_*34del)
c.950+20_950+38del (n.950+20_950+38del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920228C>ACA497380811MC1Rc.*16C>A (n.*16C>A)
c.950+20C>A (n.950+20C>A)
16g.89920228C=CA2242009934MC1Rc.*16C= (n.*16C=)
c.950+20C= (n.950+20C=)
16g.89920228C>GCA497380813MC1Rc.*16C>G (n.*16C>G)
c.950+20C>G (n.950+20C>G)
gnomAD v4
16g.89920228C>TCA8255833MC1Rc.*16C>T (n.*16C>T)
c.950+20C>T (n.950+20C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920228_89920229delinsCTCA2242009935MC1Rc.*16_*17delinsCT (n.*16_*17delinsCT)
c.950+20_950+21delinsCT (n.950+20_950+21delinsCT)
16g.89920229T>ACA497380816MC1Rc.*17T>A (n.*17T>A)
c.950+21T>A (n.950+21T>A)
16g.89920229T>CCA497380817MC1Rc.*17T>C (n.*17T>C)
c.950+21T>C (n.950+21T>C)
16g.89920229T>GCA497380819MC1Rc.*17T>G (n.*17T>G)
c.950+21T>G (n.950+21T>G)
16g.89920231dupCA624455427MC1Rc.*19dup (n.*19dup)
c.950+23dup (n.950+23dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920231delCA624455428MC1Rc.*19del (n.*19del)
c.950+23del (n.950+23del)
dbSNP gnomAD v2 gnomAD v4
16g.89920230T>ACA497380825MC1Rc.*18T>A (n.*18T>A)
c.950+22T>A (n.950+22T>A)
16g.89920230T>CCA497380824MC1Rc.*18T>C (n.*18T>C)
c.950+22T>C (n.950+22T>C)
16g.89920230T>GCA8255834MC1Rc.*18T>G (n.*18T>G)
c.950+22T>G (n.950+22T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920230T=CA2242009937MC1Rc.*18T= (n.*18T=)
c.950+22T= (n.950+22T=)
16g.89920230_89920234delinsTTAAGCA2242009936MC1Rc.*18_*22delinsTTAAG (n.*18_*22delinsTTAAG)
c.950+22_950+26delinsTTAAG (n.950+22_950+26delinsTTAAG)
16g.89920231T>ACA497380826MC1Rc.*19T>A (n.*19T>A)
c.950+23T>A (n.950+23T>A)
16g.89920231T>CCA497380828MC1Rc.*19T>C (n.*19T>C)
c.950+23T>C (n.950+23T>C)
16g.89920231T>GCA497380829MC1Rc.*19T>G (n.*19T>G)
c.950+23T>G (n.950+23T>G)
16g.89920232_89920235delCA8255835MC1Rc.*20_*23del (n.*20_*23del)
c.950+24_950+27del (n.950+24_950+27del)
dbSNP ExAC gnomAD v2 gnomAD v4
16g.89920232A>CCA497380830MC1Rc.*20A>C (n.*20A>C)
c.950+24A>C (n.950+24A>C)
16g.89920232A>GCA497380831MC1Rc.*20A>G (n.*20A>G)
c.950+24A>G (n.950+24A>G)
gnomAD v4
16g.89920232A>TCA497380832MC1Rc.*20A>T (n.*20A>T)
c.950+24A>T (n.950+24A>T)
16g.89920233A=CA2242009939MC1Rc.*21A= (n.*21A=)
c.950+25A= (n.950+25A=)
16g.89920233A>CCA8255836MC1Rc.*21A>C (n.*21A>C)
c.950+25A>C (n.950+25A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.89920233A>GCA497380834MC1Rc.*21A>G (n.*21A>G)
c.950+25A>G (n.950+25A>G)
dbSNP gnomAD v2 gnomAD v4
16g.89920233A>TCA497380837MC1Rc.*21A>T (n.*21A>T)
c.950+25A>T (n.950+25A>T)
16g.89920233_89920235delinsAGTCA2242009938MC1Rc.*21_*23delinsAGT (n.*21_*23delinsAGT)
c.950+25_950+27delinsAGT (n.950+25_950+27delinsAGT)
16g.89920234G>ACA497380842MC1Rc.*22G>A (n.*22G>A)
c.950+26G>A (n.950+26G>A)
gnomAD v4
16g.89920234G>CCA497380841MC1Rc.*22G>C (n.*22G>C)
c.950+26G>C (n.950+26G>C)
gnomAD v4
16g.89920234G>TCA497380839MC1Rc.*22G>T (n.*22G>T)
c.950+26G>T (n.950+26G>T)
16g.89920237_89920238delCA624455429MC1Rc.*25_*26del (n.*25_*26del)
c.950+29_950+30del (n.950+29_950+30del)
dbSNP gnomAD v2 gnomAD v4
16g.89920235T>ACA497380843MC1Rc.*23T>A (n.*23T>A)
c.950+27T>A (n.950+27T>A)
gnomAD v4
16g.89920235T>CCA286607763MC1Rc.*23T>C (n.*23T>C)
c.950+27T>C (n.950+27T>C)
dbSNP
16g.89920235T>GCA497380844MC1Rc.*23T>G (n.*23T>G)
c.950+27T>G (n.950+27T>G)
16g.89920235T=CA2242009940MC1Rc.*23T= (n.*23T=)
c.950+27T= (n.950+27T=)
16g.89920236G>ACA497380845MC1Rc.*24G>A (n.*24G>A)
c.950+28G>A (n.950+28G>A)
16g.89920236G>CCA497380846MC1Rc.*24G>C (n.*24G>C)
c.950+28G>C (n.950+28G>C)
16g.89920236G>TCA497380847MC1Rc.*24G>T (n.*24G>T)
c.950+28G>T (n.950+28G>T)
16g.89920237T>ACA497380850MC1Rc.*25T>A (n.*25T>A)
c.950+29T>A (n.950+29T>A)
16g.89920237T>CCA497380851MC1Rc.*25T>C (n.*25T>C)
c.950+29T>C (n.950+29T>C)
16g.89920237T>GCA497380853MC1Rc.*25T>G (n.*25T>G)
c.950+29T>G (n.950+29T>G)
gnomAD v4
16g.89920238G>ACA497380854MC1Rc.*26G>A (n.*26G>A)
c.950+30G>A (n.950+30G>A)
gnomAD v4
16g.89920238G>CCA497380855MC1Rc.*26G>C (n.*26G>C)
c.950+30G>C (n.950+30G>C)
16g.89920238G>TCA497380856MC1Rc.*26G>T (n.*26G>T)
c.950+30G>T (n.950+30G>T)
16g.89920239C>ACA497380859MC1Rc.*27C>A (n.*27C>A)
c.950+31C>A (n.950+31C>A)
16g.89920239C=CA2242009941MC1Rc.*27C= (n.*27C=)
c.950+31C= (n.950+31C=)
16g.89920239C>GCA497380857MC1Rc.*27C>G (n.*27C>G)
c.950+31C>G (n.950+31C>G)
16g.89920239C>TCA497380858MC1Rc.*27C>T (n.*27C>T)
c.950+31C>T (n.950+31C>T)
dbSNP gnomAD v4
16g.89920240T>ACA497380860MC1Rc.*28T>A (n.*28T>A)
c.950+32T>A (n.950+32T>A)
16g.89920240T>CCA497380861MC1Rc.*28T>C (n.*28T>C)
c.950+32T>C (n.950+32T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.89920240T>GCA497380862MC1Rc.*28T>G (n.*28T>G)
c.950+32T>G (n.950+32T>G)
16g.89920240T=CA2242009942MC1Rc.*28T= (n.*28T=)
c.950+32T= (n.950+32T=)
16g.89920241G>ACA497380863MC1Rc.*29G>A (n.*29G>A)
c.950+33G>A (n.950+33G>A)
gnomAD v4
16g.89920241G>CCA497380864MC1Rc.*29G>C (n.*29G>C)
c.950+33G>C (n.950+33G>C)
dbSNP gnomAD v2 gnomAD v4
16g.89920241G=CA2242009943MC1Rc.*29G= (n.*29G=)
c.950+33G= (n.950+33G=)
16g.89920241G>TCA497380865MC1Rc.*29G>T (n.*29G>T)
c.950+33G>T (n.950+33G>T)

Number of alleles fetched