Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.5234362A>CCA472885983HBDc.72T>G (p.Val24=)
11g.5234362A>GCA472885982HBDc.72T>C (p.Val24=)
11g.5234362A>TCA472885981HBDc.72T>A (p.Val24=)
11g.5234363A>CCA379277210HBDc.71T>G (p.Val24Gly)
11g.5234363A>GCA379277211HBDc.71T>C (p.Val24Ala)
gnomAD v4
11g.5234363A>TCA379277212HBDc.71T>A (p.Val24Asp)
11g.5234364C>ACA379277213HBDc.70G>T (p.Val24Phe)
11g.5234364C=CA1949565749HBDc.70G= (p.Val24=)
11g.5234364C>GCA379277214HBDc.70G>C (p.Val24Leu)
11g.5234364C>TCA379277215HBDc.70G>A (p.Val24Ile)
dbSNP
11g.5234365T>ACA472885985HBDc.69A>T (p.Ala23=)
gnomAD v4
11g.5234365T>CCA472885987HBDc.69A>G (p.Ala23=)
11g.5234365T>GCA472885986HBDc.69A>C (p.Ala23=)
dbSNP gnomAD v4
11g.5234365T=CA1949565754HBDc.69A= (p.Ala23=)
11g.5234366G>ACA379277216HBDc.68C>T (p.Ala23Val)
11g.5234366G>CCA379277217HBDc.68C>G (p.Ala23Gly)
11g.5234366G=CA1949565757HBDc.68C= (p.Ala23=)
11g.5234366G>TCA124645HBDc.68C>A (p.Ala23Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234366_5234367delinsTTCA2695213011HBDc.67_68delinsAA (p.Ala23Lys)
11g.5234367C>ACA379277218HBDc.67G>T (p.Ala23Ser)
11g.5234367C>GCA379277219HBDc.67G>C (p.Ala23Pro)
11g.5234367C>TCA379277220HBDc.67G>A (p.Ala23Thr)
gnomAD v4
11g.5234368A>CCA379277221HBDc.66T>G (p.Asp22Glu)
11g.5234368A>GCA472885989HBDc.66T>C (p.Asp22=)
11g.5234368A>TCA379277222HBDc.66T>A (p.Asp22Glu)
11g.5234369T>ACA379277225HBDc.65A>T (p.Asp22Val)
11g.5234369T>CCA379277224HBDc.65A>G (p.Asp22Gly)
gnomAD v4
11g.5234369T>GCA379277223HBDc.65A>C (p.Asp22Ala)
11g.5234370C>ACA379277226HBDc.64G>T (p.Asp22Tyr)
11g.5234370C>GCA379277227HBDc.64G>C (p.Asp22His)
11g.5234370C>TCA379277228HBDc.64G>A (p.Asp22Asn)
11g.5234371C>ACA472885993HBDc.63G>T (p.Val21=)
11g.5234371C>GCA472885994HBDc.63G>C (p.Val21=)
11g.5234371C>TCA472885995HBDc.63G>A (p.Val21=)
COSMIC
11g.5234372A=CA1949565762HBDc.62T= (p.Val21=)
11g.5234372A>CCA379277229HBDc.62T>G (p.Val21Gly)
11g.5234372A>GCA5839992HBDc.62T>C (p.Val21Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234372A>TCA124657HBDc.62T>A (p.Val21Glu)
ClinVar dbSNP
11g.5234373C>ACA379277231HBDc.61G>T (p.Val21Leu)
11g.5234373C=CA1949565768HBDc.61G= (p.Val21=)
11g.5234373C>GCA379277230HBDc.61G>C (p.Val21Leu)
11g.5234373C>TCA5839993HBDc.61G>A (p.Val21Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.5234374G>ACA5839994HBDc.60C>T (p.Asn20=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234374G>CCA379277232HBDc.60C>G (p.Asn20Lys)
11g.5234374G=CA1949565776HBDc.60C= (p.Asn20=)
11g.5234374G>TCA379277233HBDc.60C>A (p.Asn20Lys)
11g.5234375T>ACA379277234HBDc.59A>T (p.Asn20Ile)
11g.5234375T>CCA379277235HBDc.59A>G (p.Asn20Ser)
gnomAD v4
11g.5234375T>GCA379277236HBDc.59A>C (p.Asn20Thr)
11g.5234376T>ACA379277237HBDc.58A>T (p.Asn20Tyr)
11g.5234376T>CCA379277239HBDc.58A>G (p.Asn20Asp)
11g.5234376T>GCA379277238HBDc.58A>C (p.Asn20His)
11g.5234377C>ACA472886002HBDc.57G>T (p.Val19=)
11g.5234377C=CA1949565784HBDc.57G= (p.Val19=)
11g.5234377C>GCA472886003HBDc.57G>C (p.Val19=)
dbSNP gnomAD v2
11g.5234377C>TCA472886004HBDc.57G>A (p.Val19=)
gnomAD v4
11g.5234378A=CA1949565790HBDc.56T= (p.Val19=)
11g.5234378A>CCA379277240HBDc.56T>G (p.Val19Gly)
dbSNP
11g.5234378A>GCA379277241HBDc.56T>C (p.Val19Ala)
gnomAD v4
11g.5234378A>TCA379277242HBDc.56T>A (p.Val19Glu)
11g.5234379C>ACA379277243HBDc.55G>T (p.Val19Leu)
gnomAD v4
11g.5234379C>GCA379277244HBDc.55G>C (p.Val19Leu)
11g.5234379C>TCA379277245HBDc.55G>A (p.Val19Met)
gnomAD v4
11g.5234380T>ACA379277246HBDc.54A>T (p.Lys18Asn)
11g.5234380T>CCA472886008HBDc.54A>G (p.Lys18=)
gnomAD v4
11g.5234380T>GCA379277247HBDc.54A>C (p.Lys18Asn)
COSMIC
11g.5234381T>ACA379277248HBDc.53A>T (p.Lys18Ile)
11g.5234381T>CCA379277249HBDc.53A>G (p.Lys18Arg)
11g.5234381T>GCA379277250HBDc.53A>C (p.Lys18Thr)
11g.5234382T>ACA379277251HBDc.52A>T (p.Lys18Ter)
dbSNP
11g.5234382T>CCA379277253HBDc.52A>G (p.Lys18Glu)
11g.5234382T>GCA379277252HBDc.52A>C (p.Lys18Gln)
11g.5234382T=CA1949565793HBDc.52A= (p.Lys18=)
11g.5234383G>ACA472886010HBDc.51C>T (p.Gly17=)
11g.5234383G>CCA472886011HBDc.51C>G (p.Gly17=)
11g.5234383G=CA1949565798HBDc.51C= (p.Gly17=)
11g.5234383G>TCA472886012HBDc.51C>A (p.Gly17=)
dbSNP
11g.5234384C>ACA379277254HBDc.50G>T (p.Gly17Val)
dbSNP gnomAD v2 gnomAD v4
11g.5234384C=CA1949565802HBDc.50G= (p.Gly17=)
11g.5234384C>GCA379277255HBDc.50G>C (p.Gly17Ala)
11g.5234384C>TCA379277256HBDc.50G>A (p.Gly17Asp)
dbSNP gnomAD v2 gnomAD v4
11g.5234387dupCA2612149322HBDc.50dup (p.Lys18GlnfsTer10)
gnomAD v4
11g.5234385C>ACA379277257HBDc.49G>T (p.Gly17Cys)
11g.5234385C=CA1949565805HBDc.49G= (p.Gly17=)
11g.5234385C>GCA124633HBDc.49G>C (p.Gly17Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234385C>TCA379277258HBDc.49G>A (p.Gly17Ser)
dbSNP COSMIC
11g.5234386C>ACA379277261HBDc.48G>T (p.Trp16Cys)
gnomAD v4 COSMIC
11g.5234386C=CA1949565808HBDc.48G= (p.Trp16=)
11g.5234386C>GCA379277260HBDc.48G>C (p.Trp16Cys)
11g.5234386C>TCA379277259HBDc.48G>A (p.Trp16Ter)
dbSNP gnomAD v3 gnomAD v4
11g.5234387C>ACA5839995HBDc.47G>T (p.Trp16Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234387C=CA1949565809HBDc.47G= (p.Trp16=)
11g.5234387C>GCA379277262HBDc.47G>C (p.Trp16Ser)
11g.5234387C>TCA379277263HBDc.47G>A (p.Trp16Ter)
11g.5234388A=CA1949565811HBDc.46T= (p.Trp16=)
11g.5234388A>CCA379277264HBDc.46T>G (p.Trp16Gly)
dbSNP
11g.5234388A>GCA379277265HBDc.46T>C (p.Trp16Arg)
11g.5234388A>TCA379277266HBDc.46T>A (p.Trp16Arg)
11g.5234389C>ACA472886017HBDc.45G>T (p.Leu15=)
11g.5234389C=CA1949565812HBDc.45G= (p.Leu15=)
11g.5234389C>GCA472886018HBDc.45G>C (p.Leu15=)
11g.5234389C>TCA472886019HBDc.45G>A (p.Leu15=)
dbSNP
11g.5234390A>CCA379277267HBDc.44T>G (p.Leu15Arg)
11g.5234390A>GCA379277269HBDc.44T>C (p.Leu15Pro)
11g.5234390A>TCA379277268HBDc.44T>A (p.Leu15Gln)
11g.5234391G>ACA5839996HBDc.43C>T (p.Leu15=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234391G>CCA379277270HBDc.43C>G (p.Leu15Val)
gnomAD v4
11g.5234391G=CA1949565813HBDc.43C= (p.Leu15=)
11g.5234391G>TCA379277271HBDc.43C>A (p.Leu15Met)
11g.5234392G>ACA472886020HBDc.42C>T (p.Ala14=)
gnomAD v4
11g.5234392G>CCA5839997HBDc.42C>G (p.Ala14=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234392G=CA1949565815HBDc.42C= (p.Ala14=)
11g.5234392G>TCA472886021HBDc.42C>A (p.Ala14=)
11g.5234393G>ACA379277272HBDc.41C>T (p.Ala14Val)
dbSNP gnomAD v2 gnomAD v4
11g.5234393G>CCA379277273HBDc.41C>G (p.Ala14Gly)
11g.5234393G=CA1949565818HBDc.41C= (p.Ala14=)
11g.5234393G>TCA217124304HBDc.41C>A (p.Ala14Asp)
dbSNP
11g.5234394C>ACA5839998HBDc.40G>T (p.Ala14Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234394C=CA1949565819HBDc.40G= (p.Ala14=)
11g.5234394C>GCA379277274HBDc.40G>C (p.Ala14Pro)
11g.5234394C>TCA379277275HBDc.40G>A (p.Ala14Thr)
11g.5234395A=CA1949565825HBDc.39T= (p.Asn13=)
11g.5234395A>CCA379277276HBDc.39T>G (p.Asn13Lys)
11g.5234395A>GCA472886025HBDc.39T>C (p.Asn13=)
11g.5234395A>TCA124655HBDc.39T>A (p.Asn13Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234396T>ACA379277277HBDc.38A>T (p.Asn13Ile)
11g.5234396T>CCA5839999HBDc.38A>G (p.Asn13Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234396T>GCA379277278HBDc.38A>C (p.Asn13Thr)
gnomAD v4
11g.5234396T=CA1949565832HBDc.38A= (p.Asn13=)
11g.5234397T>ACA379277279HBDc.37A>T (p.Asn13Tyr)
11g.5234397T>CCA379277280HBDc.37A>G (p.Asn13Asp)
11g.5234397T>GCA379277281HBDc.37A>C (p.Asn13His)
11g.5234398G>ACA472886027HBDc.36C>T (p.Val12=)
gnomAD v4
11g.5234398G>CCA472886028HBDc.36C>G (p.Val12=)
11g.5234398G>TCA472886029HBDc.36C>A (p.Val12=)
COSMIC
11g.5234399A=CA1949565835HBDc.35T= (p.Val12=)
11g.5234399A>CCA5840000HBDc.35T>G (p.Val12Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234399A>GCA379277282HBDc.35T>C (p.Val12Ala)
11g.5234399A>TCA379277283HBDc.35T>A (p.Val12Asp)
11g.5234400C>ACA379277284HBDc.34G>T (p.Val12Phe)
11g.5234400C>GCA379277285HBDc.34G>C (p.Val12Leu)
11g.5234400C>TCA379277286HBDc.34G>A (p.Val12Ile)
COSMIC
11g.5234401A=CA1949565839HBDc.33T= (p.Ala11=)
11g.5234401A>CCA5840001HBDc.33T>G (p.Ala11=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234401A>GCA472886033HBDc.33T>C (p.Ala11=)
gnomAD v4
11g.5234401A>TCA472886034HBDc.33T>A (p.Ala11=)
11g.5234402G>ACA379277287HBDc.32C>T (p.Ala11Val)
11g.5234402G>CCA379277288HBDc.32C>G (p.Ala11Gly)
11g.5234402G>TCA379277289HBDc.32C>A (p.Ala11Asp)
11g.5234403delCA2695213013HBDc.31del (p.Ala11LeufsTer9)
11g.5234403C>ACA379277292HBDc.31G>T (p.Ala11Ser)
11g.5234403C>GCA379277290HBDc.31G>C (p.Ala11Pro)
11g.5234403C>TCA379277291HBDc.31G>A (p.Ala11Thr)
COSMIC
11g.5234404A>CCA472886036HBDc.30T>G (p.Thr10=)
11g.5234404A>GCA472886037HBDc.30T>C (p.Thr10=)
11g.5234404A>TCA472886038HBDc.30T>A (p.Thr10=)
11g.5234405G>ACA5840002HBDc.29C>T (p.Thr10Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234405G>CCA379277293HBDc.29C>G (p.Thr10Ser)
11g.5234405G=CA1949565844HBDc.29C= (p.Thr10=)
11g.5234405G>TCA379277294HBDc.29C>A (p.Thr10Asn)
11g.5234406T>ACA5840003HBDc.28A>T (p.Thr10Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234406T>CCA379277295HBDc.28A>G (p.Thr10Ala)
11g.5234406T>GCA379277296HBDc.28A>C (p.Thr10Pro)
gnomAD v4
11g.5234406T=CA1949565848HBDc.28A= (p.Thr10=)
11g.5234407C>ACA379277297HBDc.27G>T (p.Lys9Asn)
11g.5234407C>GCA379277298HBDc.27G>C (p.Lys9Asn)
11g.5234407C>TCA472886042HBDc.27G>A (p.Lys9=)
11g.5234408T>ACA379277299HBDc.26A>T (p.Lys9Met)
11g.5234408T>CCA379277300HBDc.26A>G (p.Lys9Arg)
11g.5234408T>GCA379277301HBDc.26A>C (p.Lys9Thr)
11g.5234409T>ACA379277302HBDc.25A>T (p.Lys9Ter)
11g.5234409T>CCA217124358HBDc.25A>G (p.Lys9Glu)
dbSNP
11g.5234409T>GCA379277303HBDc.25A>C (p.Lys9Gln)
11g.5234409T=CA1949565851HBDc.25A= (p.Lys9=)
11g.5234409_5234412delinsTCTCCA1949565854HBDc.22_25delinsGAGA (p.Glu8=)
11g.5234410C>ACA379277304HBDc.24G>T (p.Glu8Asp)
gnomAD v4
11g.5234410C=CA1949565857HBDc.24G= (p.Glu8=)
11g.5234410C>GCA217124369HBDc.24G>C (p.Glu8Asp)
dbSNP
11g.5234410C>TCA472641226HBDc.24G>A (p.Glu8=)
11g.5234413_5234415delCA597218670HBDc.22_24del (p.Glu8del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.5234411T>ACA379277305HBDc.23A>T (p.Glu8Val)
11g.5234411T>CCA379277306HBDc.23A>G (p.Glu8Gly)
11g.5234411T>GCA217124380HBDc.23A>C (p.Glu8Ala)
dbSNP
11g.5234411T=CA1949565863HBDc.23A= (p.Glu8=)
11g.5234412C>ACA379277307HBDc.22G>T (p.Glu8Ter)
dbSNP gnomAD v4
11g.5234412C=CA1949565866HBDc.22G= (p.Glu8=)
11g.5234412C>GCA379277308HBDc.22G>C (p.Glu8Gln)
gnomAD v4
11g.5234412C>TCA379277309HBDc.22G>A (p.Glu8Lys)
COSMIC
11g.5234413C>ACA5840004HBDc.21G>T (p.Glu7Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234413C=CA1949565871HBDc.21G= (p.Glu7=)
11g.5234413C>GCA379277310HBDc.21G>C (p.Glu7Asp)
11g.5234413C>TCA472641227HBDc.21G>A (p.Glu7=)
gnomAD v4
11g.5234414T>ACA379277311HBDc.20A>T (p.Glu7Val)
11g.5234414T>CCA379277312HBDc.20A>G (p.Glu7Gly)
11g.5234414T>GCA379277313HBDc.20A>C (p.Glu7Ala)
11g.5234415C>ACA379277314HBDc.19G>T (p.Glu7Ter)
11g.5234415C=CA1949565875HBDc.19G= (p.Glu7=)
11g.5234415C>GCA217124387HBDc.19G>C (p.Glu7Gln)
dbSNP
11g.5234415C>TCA379277315HBDc.19G>A (p.Glu7Lys)
dbSNP gnomAD v2 gnomAD v4
11g.5234416A>CCA472641230HBDc.18T>G (p.Pro6=)
11g.5234416A>GCA472641228HBDc.18T>C (p.Pro6=)
11g.5234416A>TCA472641229HBDc.18T>A (p.Pro6=)
11g.5234417G>ACA5840005HBDc.17C>T (p.Pro6Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234417G>CCA379277316HBDc.17C>G (p.Pro6Arg)
11g.5234417G=CA1949565881HBDc.17C= (p.Pro6=)
11g.5234417G>TCA217124394HBDc.17C>A (p.Pro6His)
dbSNP
11g.5234418G>ACA379277317HBDc.16C>T (p.Pro6Ser)
dbSNP gnomAD v2 gnomAD v4
11g.5234418G>CCA5840006HBDc.16C>G (p.Pro6Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234418G=CA1949565884HBDc.16C= (p.Pro6=)
11g.5234418G>TCA379277318HBDc.16C>A (p.Pro6Thr)
gnomAD v4
11g.5234419A>CCA472641231HBDc.15T>G (p.Thr5=)
11g.5234419A>GCA472641232HBDc.15T>C (p.Thr5=)
gnomAD v4
11g.5234419A>TCA472641233HBDc.15T>A (p.Thr5=)
11g.5234420G>ACA5840007HBDc.14C>T (p.Thr5Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234420G>CCA5840008HBDc.14C>G (p.Thr5Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234420G=CA1949565891HBDc.14C= (p.Thr5=)
11g.5234420G>TCA379277319HBDc.14C>A (p.Thr5Asn)
gnomAD v4
11g.5234421T>ACA379277320HBDc.13A>T (p.Thr5Ser)
11g.5234421T>CCA379277321HBDc.13A>G (p.Thr5Ala)
COSMIC
11g.5234421T>GCA379277322HBDc.13A>C (p.Thr5Pro)
11g.5234422C>ACA472641234HBDc.12G>T (p.Leu4=)
11g.5234422C=CA1949565898HBDc.12G= (p.Leu4=)
11g.5234422C>GCA472641235HBDc.12G>C (p.Leu4=)
gnomAD v4
11g.5234422C>TCA5840009HBDc.12G>A (p.Leu4=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234423A>CCA379277324HBDc.11T>G (p.Leu4Arg)
11g.5234423A>GCA379277325HBDc.11T>C (p.Leu4Pro)
11g.5234423A>TCA379277323HBDc.11T>A (p.Leu4Gln)
11g.5234424G>ACA472641236HBDc.10C>T (p.Leu4=)
11g.5234424G>CCA379277326HBDc.10C>G (p.Leu4Val)
11g.5234424G>TCA379277327HBDc.10C>A (p.Leu4Met)
11g.5234425A=CA1949565900HBDc.9T= (p.His3=)
11g.5234425A>CCA379277328HBDc.9T>G (p.His3Gln)
11g.5234425A>GCA472641237HBDc.9T>C (p.His3=)
dbSNP gnomAD v4
11g.5234425A>TCA379277329HBDc.9T>A (p.His3Gln)
11g.5234426T>ACA217124417HBDc.8A>T (p.His3Leu)
dbSNP
11g.5234426T>CCA124659HBDc.8A>G (p.His3Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234426T>GCA379277330HBDc.8A>C (p.His3Pro)
dbSNP gnomAD v3 gnomAD v4
11g.5234426T=CA1949565906HBDc.8A= (p.His3=)
11g.5234427G>ACA379277331HBDc.7C>T (p.His3Tyr)
11g.5234427G>CCA379277332HBDc.7C>G (p.His3Asp)
11g.5234427G=CA1949565918HBDc.7C= (p.His3=)
11g.5234427G>TCA5840010HBDc.7C>A (p.His3Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234428C>ACA472641238HBDc.6G>T (p.Val2=)
11g.5234428C=CA1949565920HBDc.6G= (p.Val2=)
11g.5234428C>GCA472641239HBDc.6G>C (p.Val2=)
11g.5234428C>TCA472641240HBDc.6G>A (p.Val2=)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.5234429A=CA1949565926HBDc.5T= (p.Val2=)
11g.5234429A>CCA379277333HBDc.5T>G (p.Val2Gly)
11g.5234429A>GCA124680HBDc.5T>C (p.Val2Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.5234429A>TCA379277334HBDc.5T>A (p.Val2Glu)
11g.5234430C>ACA379277337HBDc.4G>T (p.Val2Leu)
gnomAD v4
11g.5234430C>GCA379277336HBDc.4G>C (p.Val2Leu)
11g.5234430C>TCA379277335HBDc.4G>A (p.Val2Met)
11g.5234431C>ACA379277338HBDc.3G>T (p.Met1Ile)
11g.5234431C=CA1949565931HBDc.3G= (p.Met1=)
11g.5234431C>GCA379277339HBDc.3G>C (p.Met1Ile)
11g.5234431C>TCA217124440HBDc.3G>A (p.Met1Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.5234432A=CA1949565936HBDc.2T= (p.Met1=)
11g.5234432A>CCA379277340HBDc.2T>G (p.Met1Arg)
dbSNP gnomAD v3 gnomAD v4
11g.5234432A>GCA5840012HBDc.2T>C (p.Met1Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234432A>TCA379277341HBDc.2T>A (p.Met1Lys)
gnomAD v4
11g.5234432_5234439delinsATGGTGTCCA1949565935HBDc.-6_2delinsGACACCAT
11g.5234433T>ACA379277342HBDc.1A>T (p.Met1Leu)
dbSNP gnomAD v3 gnomAD v4
11g.5234433T>CCA379277343HBDc.1A>G (p.Met1Val)
COSMIC
11g.5234433T>GCA379277344HBDc.1A>C (p.Met1Leu)
11g.5234433T=CA1949565945HBDc.1A= (p.Met1=)
11g.5234435_5234441delCA5840011HBDc.-6_1del (n.-6_1del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234434G>ACA2612149359HBDc.-1C>T (n.-1C>T)
gnomAD v4
11g.5234434G>CCA2612149360HBDc.-1C>G (n.-1C>G)
gnomAD v4
11g.5234435G>CCA5840013HBDc.-2C>G (n.-2C>G)
dbSNP ExAC gnomAD v2
11g.5234435G=CA1949565946HBDc.-2C= (n.-2C=)
11g.5234435G>TCA597218682HBDc.-2C>A (n.-2C>A)
dbSNP gnomAD v2 gnomAD v4
11g.5234436T>GCA5840014HBDc.-3A>C (n.-3A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234436T=CA1949565951HBDc.-3A= (n.-3A=)
11g.5234438T>ACA597218683HBDc.-5A>T (n.-5A>T)
dbSNP gnomAD v2
11g.5234438T>GCA1949565954HBDc.-5A>C (n.-5A>C)
dbSNP
11g.5234438T=CA1949565955HBDc.-5A= (n.-5A=)
11g.5234439_5234443delinsCTGTTCA1949565957HBDc.-10_-6delinsAACAG (n.-10_-6delinsAACAG)
11g.5234442_5234445delCA918809823HBDc.-10_-7del (n.-10_-7del)
dbSNP
11g.5234441G>ACA2790274425HBDc.-8C>T (n.-8C>T)
11g.5234441G>CCA677546888HBDc.-8C>G (n.-8C>G)
dbSNP gnomAD v3 gnomAD v4
11g.5234441G=CA1949565964HBDc.-8C= (n.-8C=)
11g.5234441G>TCA2612149363HBDc.-8C>A (n.-8C>A)
gnomAD v4
11g.5234443T>CCA1949565968HBDc.-10A>G (n.-10A>G)
dbSNP gnomAD v4
11g.5234443T=CA1949565966HBDc.-10A= (n.-10A=)
11g.5234444T>CCA2612149365HBDc.-11A>G (n.-11A>G)
gnomAD v4
11g.5234444_5234445delCA2574735682HBDc.-12_-11del (n.-12_-11del)
11g.5234445G>ACA2612149366HBDc.-12C>T (n.-12C>T)
gnomAD v4
11g.5234445G>CCA597218684HBDc.-12C>G (n.-12C>G)
dbSNP gnomAD v2 gnomAD v4
11g.5234445G=CA1949565969HBDc.-12C= (n.-12C=)
11g.5234446A>TCA2612149367HBDc.-13T>A (n.-13T>A)
gnomAD v4
11g.5234447G>ACA217124446HBDc.-14C>T (n.-14C>T)
dbSNP
11g.5234447G=CA1949565971HBDc.-14C= (n.-14C=)
11g.5234447G>TCA2612149368HBDc.-14C>A (n.-14C>A)
gnomAD v4
11g.5234448G>TCA2574735683HBDc.-15C>A (n.-15C>A)
gnomAD v4
11g.5234450delCA2695213015HBDc.-16del (n.-16del)
11g.5234450T>GCA5840015HBDc.-17A>C (n.-17A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.5234450T=CA1949565973HBDc.-17A= (n.-17A=)
11g.5234451G>CCA2612149370HBDc.-18C>G (n.-18C>G)
gnomAD v4
11g.5234451G=CA1949565976HBDc.-18C= (n.-18C=)
11g.5234451G>TCA677546915HBDc.-18C>A (n.-18C>A)
dbSNP gnomAD v3 gnomAD v4
11g.5234453T>CCA2612149372HBDc.-20A>G (n.-20A>G)
gnomAD v4
11g.5234454A=CA1949565977HBDc.-21T= (n.-21T=)
11g.5234454A>GCA1949565978HBDc.-21T>C (n.-21T>C)
dbSNP gnomAD v4
11g.5234455G>ACA597218685HBDc.-22C>T (n.-22C>T)
dbSNP gnomAD v2 gnomAD v4
11g.5234455G>CCA2612149374HBDc.-22C>G (n.-22C>G)
gnomAD v4
11g.5234455G=CA1949565980HBDc.-22C= (n.-22C=)
11g.5234455G>TCA2612149373HBDc.-22C>A (n.-22C>A)
gnomAD v4
11g.5234456T>ACA2612149375HBDc.-23A>T (n.-23A>T)
gnomAD v4
11g.5234456T>CCA5840016HBDc.-23A>G (n.-23A>G)
dbSNP ExAC gnomAD v4
11g.5234456T=CA1949565981HBDc.-23A= (n.-23A=)
11g.5234457G>TCA2612149376HBDc.-24C>A (n.-24C>A)
gnomAD v4
11g.5234457_5234458insTCA653938471HBDc.-25_-24insA (n.-25_-24insA)
COSMIC
11g.5234458A>GCA2612149377HBDc.-25T>C (n.-25T>C)
gnomAD v4
11g.5234459A=CA1949565984HBDc.-26T= (n.-26T=)
11g.5234459A>GCA5840017HBDc.-26T>C (n.-26T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.5234460C>ACA2612149379HBDc.-27G>T (n.-27G>T)
gnomAD v4
11g.5234460C=CA1949565990HBDc.-27G= (n.-27G=)
11g.5234460C>TCA597218686HBDc.-27G>A (n.-27G>A)
dbSNP gnomAD v2 gnomAD v4
11g.5234461A=CA1949565994HBDc.-28T= (n.-28T=)
11g.5234461A>GCA2612149381HBDc.-28T>C (n.-28T>C)
gnomAD v4
11g.5234461A>TCA597218687HBDc.-28T>A (n.-28T>A)
dbSNP gnomAD v2 gnomAD v4
11g.5234462C>ACA597218688HBDc.-28-1G>T (n.-28-1G>T)
c.-29G>T (n.-29G>T)
dbSNP gnomAD v2 gnomAD v4
11g.5234462C=CA1949565997HBDc.-28-1G= (n.-28-1G=)
c.-29G= (n.-29G=)
11g.5234462C>TCA1949565998HBDc.-28-1G>A (n.-28-1G>A)
c.-29G>A (n.-29G>A)
dbSNP

Number of alleles fetched