Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.49459142_49459160delCA2695206696MMUTc.309_327del (p.Arg103SerfsTer?)
6g.49459157delCA16618295MMUTc.312del (p.Trp105GlyfsTer?)
ClinVar dbSNP gnomAD v4
6g.49459157G>ACA3847139MMUTc.310C>T (p.Pro104Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49459157G>CCA364405025MMUTc.310C>G (p.Pro104Ala)
6g.49459157G=CA1627396650MMUTc.310C= (p.Pro104=)
6g.49459157G>TCA364405026MMUTc.310C>A (p.Pro104Thr)
6g.49459158C>ACA364405027MMUTc.309G>T (p.Arg103Ser)
gnomAD v4
6g.49459158C>GCA364405028MMUTc.309G>C (p.Arg103Ser)
6g.49459158C>TCA450609517MMUTc.309G>A (p.Arg103=)
gnomAD v4
6g.49459159C>ACA364405031MMUTc.308G>T (p.Arg103Met)
6g.49459159C>GCA364405030MMUTc.308G>C (p.Arg103Thr)
6g.49459159C>TCA364405029MMUTc.308G>A (p.Arg103Lys)
6g.49459159_49459160insGCACCGCGCA2550235074MMUTc.307_308insCGCGGTGC (p.Arg103ThrfsTer?)
6g.49459160T>ACA364405032MMUTc.307A>T (p.Arg103Trp)
6g.49459160T>CCA364405033MMUTc.307A>G (p.Arg103Gly)
6g.49459160T>GCA450609521MMUTc.307A>C (p.Arg103=)
6g.49459161A>CCA364405034MMUTc.306T>G (p.Phe102Leu)
6g.49459161A>GCA450609522MMUTc.306T>C (p.Phe102=)
gnomAD v4
6g.49459161A>TCA364405035MMUTc.306T>A (p.Phe102Leu)
6g.49459161_49459162insCATGGTGGCCTGCGGGCCGCGCCA2544888496MMUTc.305_306insGCGCGGCCCGCAGGCCACCATG (p.Phe102LeufsTer9)
6g.49459162A>CCA364405036MMUTc.305T>G (p.Phe102Cys)
6g.49459162A>GCA364405037MMUTc.305T>C (p.Phe102Ser)
6g.49459162A>TCA364405038MMUTc.305T>A (p.Phe102Tyr)
gnomAD v4
6g.49459163A=CA1627396653MMUTc.304T= (p.Phe102=)
6g.49459163A>CCA364405039MMUTc.304T>G (p.Phe102Val)
dbSNP
6g.49459163A>GCA364405040MMUTc.304T>C (p.Phe102Leu)
6g.49459163A>TCA364405041MMUTc.304T>A (p.Phe102Ile)
6g.49459164G>ACA450609527MMUTc.303C>T (p.Thr101=)
dbSNP gnomAD v4
6g.49459164G>CCA450609526MMUTc.303C>G (p.Thr101=)
6g.49459164G=CA1627396655MMUTc.303C= (p.Thr101=)
6g.49459164G>TCA450609525MMUTc.303C>A (p.Thr101=)
6g.49459164_49459165insAAAGGCTCAAAGCCCGGCAGCGTGTCGCA2512341428MMUTc.303_304insGACACGCTGCCGGGCTTTGAGCCTTTC (p.Thr101_Phe102insAspThrLeuProGlyPheGluProPhe)
6g.49459165G>ACA364405042MMUTc.302C>T (p.Thr101Ile)
gnomAD v4
6g.49459165G>CCA364405043MMUTc.302C>G (p.Thr101Ser)
6g.49459165G>TCA364405044MMUTc.302C>A (p.Thr101Asn)
6g.49459166T>ACA364405045MMUTc.301A>T (p.Thr101Ser)
6g.49459166T>CCA364405046MMUTc.301A>G (p.Thr101Ala)
COSMIC
6g.49459166T>GCA364405047MMUTc.301A>C (p.Thr101Pro)
dbSNP
6g.49459166T=CA1627396659MMUTc.301A= (p.Thr101=)
6g.49459168_49459169dupCA2695206697MMUTc.300_301dup (p.Thr101IlefsTer?)
6g.49459167A>CCA364405049MMUTc.300T>G (p.Tyr100Ter)
6g.49459167A>GCA450609534MMUTc.300T>C (p.Tyr100=)
6g.49459167A>TCA364405048MMUTc.300T>A (p.Tyr100Ter)
gnomAD v4
6g.49459168T>ACA364405050MMUTc.299A>T (p.Tyr100Phe)
6g.49459168T>CCA347866MMUTc.299A>G (p.Tyr100Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.49459168T>GCA364405051MMUTc.299A>C (p.Tyr100Ser)
6g.49459168T=CA1627396661MMUTc.299A= (p.Tyr100=)
6g.49459169A>CCA364405052MMUTc.298T>G (p.Tyr100Asp)
6g.49459169A>GCA364405053MMUTc.298T>C (p.Tyr100His)
6g.49459169A>TCA364405054MMUTc.298T>A (p.Tyr100Asn)

Number of alleles fetched