Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGCCA2494534932SIX3c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC (p.Ser31=)
2g.44942230_44942277dupCA2597075087SIX3c.126_173dup (p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGlyAlaGlyGlyGlyGly)
gnomAD v3 gnomAD v4
2g.44942230_44942277delCA1642255SIX3c.126_173del (p.Gly43_Gly58del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942209_44942232dupCA2658869331SIX3c.105_128dup (p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly)
gnomAD v4
2g.44942209_44942232delCA2658869333SIX3c.105_128del (p.Asn36_Gly43del)
gnomAD v4
2g.44942211_44942229delinsACGGTGCGGGAGGCGGCGGCA2494534953SIX3c.107_125delinsACGGTGCGGGAGGCGGCGG (p.Asn36=)
2g.44942215_44942232dupCA1642260SIX3c.111_128dup (p.Gly43_Ala44insAlaGlyGlyGlyGlyGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942215_44942232delCA2494534957SIX3c.111_128del (p.Ala38_Gly43del)
dbSNP gnomAD v4
2g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGCCA2494534963SIX3c.111_129delinsTGCGGGAGGCGGCGGCGGC (p.Gly37=)
2g.44942228_44942245dupCA2658869389SIX3c.124_141dup (p.Gly47_Ser48insGlyGlyAlaGlyGlyGly)
dbSNP gnomAD v4
2g.44942228_44942245delCA1642261SIX3c.124_141del (p.Gly42_Gly47del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942221A>CCA426126334SIX3c.117A>C (p.Gly39=)
2g.44942221A>GCA426126335SIX3c.117A>G (p.Gly39=)
gnomAD v4
2g.44942221A>TCA426126336SIX3c.117A>T (p.Gly39=)
gnomAD v4
2g.44942221_44942224delinsAGGCCA2494534971SIX3c.117_120delinsAGGC (p.Gly39=)
2g.44942222G>ACA346798913SIX3c.118G>A (p.Gly40Ser)
2g.44942222G>CCA346798914SIX3c.118G>C (p.Gly40Arg)
gnomAD v4
2g.44942222G>TCA346798915SIX3c.118G>T (p.Gly40Cys)
gnomAD v4
2g.44942232_44942234dupCA1642265SIX3c.128_130dup (p.Gly43_Ala44insGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942232_44942234delCA532706661SIX3c.128_130del (p.Gly43del)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.44942230_44942256delCA2749734938SIX3c.126_152del (p.Gly43_Gly51del)
2g.44942235_44942306delCA2658869408SIX3c.131_202del (p.Ala44_Gly67del)
gnomAD v4
2g.44942223G>ACA346798916SIX3c.119G>A (p.Gly40Asp)
2g.44942223G>CCA346798917SIX3c.119G>C (p.Gly40Ala)
2g.44942223G>TCA346798918SIX3c.119G>T (p.Gly40Val)
2g.44942224C>ACA426126337SIX3c.120C>A (p.Gly40=)
ClinVar dbSNP gnomAD v4
2g.44942224C>GCA426126339SIX3c.120C>G (p.Gly40=)
2g.44942224C>TCA426126338SIX3c.120C>T (p.Gly40=)
gnomAD v4
2g.44942225G>ACA346798919SIX3c.121G>A (p.Gly41Ser)
gnomAD v4
2g.44942225G>CCA346798920SIX3c.121G>C (p.Gly41Arg)
2g.44942225G=CA2494534973SIX3c.121G= (p.Gly41=)
2g.44942225G>TCA346798921SIX3c.121G>T (p.Gly41Cys)
gnomAD v4
2g.44942225_44942246delinsGGCGGCGGCGCGGGAGGCGGCACA2494534974SIX3c.121_142delinsGGCGGCGGCGCGGGAGGCGGCA (p.Gly41=)
2g.44942226G>ACA346798924SIX3c.122G>A (p.Gly41Asp)
2g.44942226G>CCA346798923SIX3c.122G>C (p.Gly41Ala)
2g.44942226G>TCA346798922SIX3c.122G>T (p.Gly41Val)
gnomAD v4
2g.44942227_44942228insAGCCA769176972SIX3c.123_124insAGC (p.Gly41_Gly42insSer)
dbSNP
2g.44942235_44942255dupCA916524990SIX3c.131_151dup (p.Gly50_Gly51insAlaGlyGlyGlySerGlyGly)
dbSNP gnomAD v3 gnomAD v4
2g.44942235_44942255delCA2494534976SIX3c.131_151del (p.Ala44_Gly50del)
dbSNP
2g.44942227C>ACA426126340SIX3c.123C>A (p.Gly41=)
2g.44942227C>GCA426126341SIX3c.123C>G (p.Gly41=)
2g.44942227C>TCA426126342SIX3c.123C>T (p.Gly41=)
gnomAD v4
2g.44942228G>ACA346798925SIX3c.124G>A (p.Gly42Ser)
gnomAD v4
2g.44942228G>CCA346798926SIX3c.124G>C (p.Gly42Arg)
dbSNP gnomAD v2 gnomAD v4
2g.44942228G=CA2494534978SIX3c.124G= (p.Gly42=)
2g.44942228G>TCA346798927SIX3c.124G>T (p.Gly42Cys)
gnomAD v4
2g.44942234_44942245dupCA2576956287SIX3c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)
ClinVar
2g.44942229G>ACA346798928SIX3c.125G>A (p.Gly42Asp)
gnomAD v4
2g.44942229G>CCA346798929SIX3c.125G>C (p.Gly42Ala)
2g.44942229G>TCA346798930SIX3c.125G>T (p.Gly42Val)
2g.44942230_44942231delCA2658869441SIX3c.126_127del (p.Gly43ArgfsTer?)
gnomAD v4
2g.44942235_44942252delCA1030071070SIX3c.131_148del (p.Ala44_Gly49del)
gnomAD v3 gnomAD v4
2g.44942230C>ACA426126343SIX3c.126C>A (p.Gly42=)
2g.44942230C>GCA426126344SIX3c.126C>G (p.Gly42=)
2g.44942230C>TCA426126345SIX3c.126C>T (p.Gly42=)
gnomAD v4
2g.44942231G>ACA346798931SIX3c.127G>A (p.Gly43Ser)
gnomAD v4
2g.44942231G>CCA346798932SIX3c.127G>C (p.Gly43Arg)
2g.44942231G=CA2494534980SIX3c.127G= (p.Gly43=)
2g.44942231G>TCA346798933SIX3c.127G>T (p.Gly43Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942232delCA2658869460SIX3c.128del (p.Gly43AlafsTer?)
gnomAD v4
2g.44942235_44942243delCA2658869454SIX3c.131_139del (p.Ala44_Gly46del)
gnomAD v4
2g.44942235_44942285delCA2544789187SIX3c.131_181del (p.Ala44_Gly60del)
2g.44942232G>ACA346798934SIX3c.128G>A (p.Gly43Asp)
gnomAD v4
2g.44942232G>CCA346798935SIX3c.128G>C (p.Gly43Ala)
2g.44942232G>TCA346798936SIX3c.128G>T (p.Gly43Val)
gnomAD v4
2g.44942235_44942249delCA2749734939SIX3c.131_145del (p.Ala44_Ser48del)
2g.44942233C>ACA426126346SIX3c.129C>A (p.Gly43=)
gnomAD v4
2g.44942233C=CA2494534983SIX3c.129C= (p.Gly43=)
2g.44942233C>GCA426126347SIX3c.129C>G (p.Gly43=)
2g.44942233C>TCA426126348SIX3c.129C>T (p.Gly43=)
dbSNP gnomAD v2 gnomAD v4
2g.44942233_44942263delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGTCA2494534982SIX3c.129_159delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGT (p.Gly43=)
2g.44942234G>ACA346798938SIX3c.130G>A (p.Ala44Thr)
2g.44942234G>CCA346798937SIX3c.130G>C (p.Ala44Pro)
2g.44942234G>TCA346798939SIX3c.130G>T (p.Ala44Ser)
2g.44942240_44942258dupCA2658869468SIX3c.136_154dup (p.Asn52ArgfsTer?)
gnomAD v4
2g.44942246_44942275delCA1642266SIX3c.142_171del (p.Ser48_Gly57del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942235C>ACA346798941SIX3c.131C>A (p.Ala44Glu)
2g.44942235C>GCA346798940SIX3c.131C>G (p.Ala44Gly)
2g.44942235C>TCA346798942SIX3c.131C>T (p.Ala44Val)
gnomAD v4
2g.44942235_44942246delCA2576956291SIX3c.131_142del (p.Ala44_Ser48delinsGly)
2g.44942236G>ACA426126349SIX3c.132G>A (p.Ala44=)
dbSNP gnomAD v2
2g.44942236G>CCA426126350SIX3c.132G>C (p.Ala44=)
2g.44942236G=CA2494534985SIX3c.132G= (p.Ala44=)
2g.44942236G>TCA426126351SIX3c.132G>T (p.Ala44=)
dbSNP gnomAD v4
2g.44942237G>ACA346798943SIX3c.133G>A (p.Gly45Arg)
gnomAD v4
2g.44942237G>CCA346798944SIX3c.133G>C (p.Gly45Arg)
2g.44942237G>TCA346798945SIX3c.133G>T (p.Gly45Ter)
2g.44942238G>ACA47011039SIX3c.134G>A (p.Gly45Glu)
dbSNP gnomAD v3 gnomAD v4
2g.44942238G>CCA346798946SIX3c.134G>C (p.Gly45Ala)
2g.44942238G=CA2494534987SIX3c.134G= (p.Gly45=)
2g.44942238G>TCA346798947SIX3c.134G>T (p.Gly45Val)
gnomAD v4
2g.44942239A>CCA426126352SIX3c.135A>C (p.Gly45=)
2g.44942239A>GCA426126353SIX3c.135A>G (p.Gly45=)
2g.44942239A>TCA426126354SIX3c.135A>T (p.Gly45=)
2g.44942239_44942248delinsAGGCGGCAGCCA2494534989SIX3c.135_144delinsAGGCGGCAGC (p.Gly45=)
2g.44942240G>ACA346798948SIX3c.136G>A (p.Gly46Ser)
gnomAD v4
2g.44942240G>CCA346798949SIX3c.136G>C (p.Gly46Arg)
2g.44942240G>TCA346798950SIX3c.136G>T (p.Gly46Cys)
2g.44942243_44942245dupCA913090548SIX3c.139_141dup (p.Gly47_Ser48insGly)
2g.44942246_44942254dupCA47011040SIX3c.142_150dup (p.Gly50_Gly51insSerGlyGly)
dbSNP gnomAD v3 gnomAD v4
2g.44942246_44942254delCA532706662SIX3c.142_150del (p.Ser48_Gly50del)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942241G>ACA346798951SIX3c.137G>A (p.Gly46Asp)
2g.44942241G>CCA346798952SIX3c.137G>C (p.Gly46Ala)
2g.44942241G>TCA346798953SIX3c.137G>T (p.Gly46Val)
gnomAD v4
2g.44942242C>ACA426126355SIX3c.138C>A (p.Gly46=)
2g.44942242C>GCA426126356SIX3c.138C>G (p.Gly46=)
2g.44942242C>TCA426126357SIX3c.138C>T (p.Gly46=)
dbSNP gnomAD v4
2g.44942243G>ACA346798956SIX3c.139G>A (p.Gly47Ser)
gnomAD v4
2g.44942243G>CCA346798954SIX3c.139G>C (p.Gly47Arg)
2g.44942243G=CA2494534993SIX3c.139G= (p.Gly47=)
2g.44942243G>TCA346798955SIX3c.139G>T (p.Gly47Cys)
dbSNP
2g.44942243_44942246delinsGGCACA2494534994SIX3c.139_142delinsGGCA (p.Gly47=)
2g.44942243_44942244insACA916524991SIX3c.139_140insA (p.Gly47GlufsTer?)
dbSNP
2g.44942244G>ACA346798957SIX3c.140G>A (p.Gly47Asp)
gnomAD v4
2g.44942244G>CCA346798958SIX3c.140G>C (p.Gly47Ala)
2g.44942244G>TCA346798959SIX3c.140G>T (p.Gly47Val)
ClinVar dbSNP
2g.44942246_44942248delCA645537517SIX3c.142_144del (p.Ser48del)
dbSNP COSMIC
2g.44942245C>ACA426126358SIX3c.141C>A (p.Gly47=)
2g.44942245C>GCA426126360SIX3c.141C>G (p.Gly47=)
2g.44942245C>TCA426126359SIX3c.141C>T (p.Gly47=)
gnomAD v4
2g.44942246A=CA2494534996SIX3c.142A= (p.Ser48=)
2g.44942246A>CCA346798960SIX3c.142A>C (p.Ser48Arg)
gnomAD v4
2g.44942246A>GCA1642267SIX3c.142A>G (p.Ser48Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942246A>TCA346798961SIX3c.142A>T (p.Ser48Cys)
2g.44942247G>ACA346798962SIX3c.143G>A (p.Ser48Asn)
2g.44942247G>CCA346798963SIX3c.143G>C (p.Ser48Thr)
2g.44942247G>TCA346798964SIX3c.143G>T (p.Ser48Ile)
2g.44942254_44942256delCA2658869504SIX3c.150_152del (p.Gly51del)
gnomAD v4
2g.44942248_44942277delCA2511709874SIX3c.144_173del (p.Gly49_Gly58del)
2g.44942248C>ACA346798965SIX3c.144C>A (p.Ser48Arg)
2g.44942248C=CA2494535000SIX3c.144C= (p.Ser48=)
2g.44942248C>GCA346798966SIX3c.144C>G (p.Ser48Arg)
2g.44942248C>TCA426126361SIX3c.144C>T (p.Ser48=)
dbSNP gnomAD v4
2g.44942249G>ACA346798969SIX3c.145G>A (p.Gly49Ser)
dbSNP gnomAD v4
2g.44942249G>CCA346798968SIX3c.145G>C (p.Gly49Arg)
2g.44942249G=CA2494535004SIX3c.145G= (p.Gly49=)
2g.44942249G>TCA346798967SIX3c.145G>T (p.Gly49Cys)
2g.44942257_44942277dupCA2658869505SIX3c.153_173dup (p.Gly58_Ala59insAsnGlyAlaGlyGlyGlyGly)
gnomAD v4
2g.44942257_44942277delCA2658869506SIX3c.153_173del (p.Asn52_Gly58del)
gnomAD v4
2g.44942250G>ACA346798970SIX3c.146G>A (p.Gly49Asp)
dbSNP gnomAD v2 gnomAD v4
2g.44942250G>CCA346798971SIX3c.146G>C (p.Gly49Ala)
2g.44942250G=CA2494535007SIX3c.146G= (p.Gly49=)
2g.44942250G>TCA346798972SIX3c.146G>T (p.Gly49Val)
2g.44942251C>ACA426126362SIX3c.147C>A (p.Gly49=)
2g.44942251C=CA2494535009SIX3c.147C= (p.Gly49=)
2g.44942251C>GCA426126363SIX3c.147C>G (p.Gly49=)
2g.44942251C>TCA426126364SIX3c.147C>T (p.Gly49=)
dbSNP gnomAD v2 gnomAD v4
2g.44942252G>ACA346798973SIX3c.148G>A (p.Gly50Ser)
dbSNP gnomAD v4
2g.44942252G>CCA346798974SIX3c.148G>C (p.Gly50Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942252G=CA2494535011SIX3c.148G= (p.Gly50=)
2g.44942252G>TCA346798975SIX3c.148G>T (p.Gly50Cys)
gnomAD v4
2g.44942253delCA2576956298SIX3c.149del (p.Gly50AlafsTer?)
gnomAD v4
2g.44942253G>ACA346798976SIX3c.149G>A (p.Gly50Asp)
gnomAD v4
2g.44942253G>CCA346798977SIX3c.149G>C (p.Gly50Ala)
2g.44942253G=CA2494535013SIX3c.149G= (p.Gly50=)
2g.44942253G>TCA1642268SIX3c.149G>T (p.Gly50Val)
dbSNP ExAC gnomAD v2
2g.44942254C>ACA426126365SIX3c.150C>A (p.Gly50=)
2g.44942254C=CA2494535015SIX3c.150C= (p.Gly50=)
2g.44942254C>GCA426126366SIX3c.150C>G (p.Gly50=)
2g.44942254C>TCA426126367SIX3c.150C>T (p.Gly50=)
dbSNP gnomAD v2 gnomAD v4
2g.44942255G>ACA346798978SIX3c.151G>A (p.Gly51Arg)
dbSNP gnomAD v2 gnomAD v4
2g.44942255G>CCA47011041SIX3c.151G>C (p.Gly51Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942255G=CA2494535019SIX3c.151G= (p.Gly51=)
2g.44942255G>TCA1642269SIX3c.151G>T (p.Gly51Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942256G>ACA1642270SIX3c.152G>A (p.Gly51Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942256G>CCA346798979SIX3c.152G>C (p.Gly51Ala)
2g.44942256G=CA2494535021SIX3c.152G= (p.Gly51=)
2g.44942256G>TCA346798980SIX3c.152G>T (p.Gly51Val)
2g.44942257G>ACA426126368SIX3c.153G>A (p.Gly51=)
2g.44942257G>CCA426126369SIX3c.153G>C (p.Gly51=)
gnomAD v4
2g.44942257G=CA2494535023SIX3c.153G= (p.Gly51=)
2g.44942257G>TCA1642271SIX3c.153G>T (p.Gly51=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942257_44942258insCTCCTCTCCTCTCAGGTCAGTCCATGGTATTCCGCTCCCCCCTCA2749734940SIX3c.153_154insCTCCTCTCCTCTCAGGTCAGTCCATGGTATTCCGCTCCCCCCT (p.Asn52LeufsTer15)
2g.44942258A>CCA346798981SIX3c.154A>C (p.Asn52His)
2g.44942258A>GCA346798982SIX3c.154A>G (p.Asn52Asp)
2g.44942258A>TCA346798983SIX3c.154A>T (p.Asn52Tyr)
ClinVar
2g.44942259A>CCA346798984SIX3c.155A>C (p.Asn52Thr)
gnomAD v3 gnomAD v4
2g.44942259A>GCA346798985SIX3c.155A>G (p.Asn52Ser)
2g.44942259A>TCA346798986SIX3c.155A>T (p.Asn52Ile)
2g.44942260C>ACA346798987SIX3c.156C>A (p.Asn52Lys)
2g.44942260C=CA2494535024SIX3c.156C= (p.Asn52=)
2g.44942260C>GCA346798988SIX3c.156C>G (p.Asn52Lys)
2g.44942260C>TCA426126370SIX3c.156C>T (p.Asn52=)
dbSNP gnomAD v2 gnomAD v4
2g.44942261G>ACA346798989SIX3c.157G>A (p.Gly53Ser)
2g.44942261G>CCA1642272SIX3c.157G>C (p.Gly53Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942261G=CA2494535026SIX3c.157G= (p.Gly53=)
2g.44942261G>TCA346798990SIX3c.157G>T (p.Gly53Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.44942262G>ACA346798992SIX3c.158G>A (p.Gly53Asp)
2g.44942262G>CCA1642273SIX3c.158G>C (p.Gly53Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942262G=CA2494535027SIX3c.158G= (p.Gly53=)
2g.44942262G>TCA346798991SIX3c.158G>T (p.Gly53Val)
2g.44942263T>ACA426126371SIX3c.159T>A (p.Gly53=)
2g.44942263T>CCA426126372SIX3c.159T>C (p.Gly53=)
2g.44942263T>GCA426126373SIX3c.159T>G (p.Gly53=)
dbSNP
2g.44942264G>ACA346798995SIX3c.160G>A (p.Ala54Thr)
2g.44942264G>CCA346798993SIX3c.160G>C (p.Ala54Pro)
2g.44942264G>TCA346798994SIX3c.160G>T (p.Ala54Ser)
2g.44942265C>ACA346798996SIX3c.161C>A (p.Ala54Glu)
dbSNP gnomAD v4
2g.44942265C=CA2494535029SIX3c.161C= (p.Ala54=)
2g.44942265C>GCA346798997SIX3c.161C>G (p.Ala54Gly)
2g.44942265C>TCA346798998SIX3c.161C>T (p.Ala54Val)
gnomAD v4
2g.44942266G>ACA47011042SIX3c.162G>A (p.Ala54=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.44942266G>CCA426126375SIX3c.162G>C (p.Ala54=)
dbSNP gnomAD v2 gnomAD v4
2g.44942266G=CA2494535031SIX3c.162G= (p.Ala54=)
2g.44942266G>TCA426126374SIX3c.162G>T (p.Ala54=)
dbSNP gnomAD v2 gnomAD v4
2g.44942267G>ACA346799001SIX3c.163G>A (p.Gly55Arg)
2g.44942267G>CCA346799000SIX3c.163G>C (p.Gly55Arg)
dbSNP gnomAD v4
2g.44942267G=CA2494535036SIX3c.163G= (p.Gly55=)
2g.44942267G>TCA346798999SIX3c.163G>T (p.Gly55Ter)
2g.44942268G>ACA1642274SIX3c.164G>A (p.Gly55Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942268G>CCA346799002SIX3c.164G>C (p.Gly55Ala)
2g.44942268G=CA2494535038SIX3c.164G= (p.Gly55=)
2g.44942268G>TCA346799003SIX3c.164G>T (p.Gly55Val)
2g.44942269A>CCA426126378SIX3c.165A>C (p.Gly55=)
gnomAD v4
2g.44942269A>GCA426126377SIX3c.165A>G (p.Gly55=)
2g.44942269A>TCA426126376SIX3c.165A>T (p.Gly55=)
gnomAD v4
2g.44942270G>ACA346799004SIX3c.166G>A (p.Gly56Ser)
dbSNP
2g.44942270G>CCA346799005SIX3c.166G>C (p.Gly56Arg)
gnomAD v3 gnomAD v4
2g.44942270G=CA2494535040SIX3c.166G= (p.Gly56=)
2g.44942270G>TCA346799006SIX3c.166G>T (p.Gly56Cys)
2g.44942271G>ACA346799007SIX3c.167G>A (p.Gly56Asp)
2g.44942271G>CCA346799009SIX3c.167G>C (p.Gly56Ala)
2g.44942271G>TCA346799008SIX3c.167G>T (p.Gly56Val)
2g.44942271_44942272delinsGCCA2494535042SIX3c.167_168delinsGC (p.Gly56=)
2g.44942272delCA532706663SIX3c.168del (p.Gly57AlafsTer?)
dbSNP gnomAD v2 gnomAD v4
2g.44942272C>ACA426126379SIX3c.168C>A (p.Gly56=)
gnomAD v4
2g.44942272C=CA2494535046SIX3c.168C= (p.Gly56=)
2g.44942272C>GCA426126380SIX3c.168C>G (p.Gly56=)
2g.44942272C>TCA1642275SIX3c.168C>T (p.Gly56=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942273G>ACA346799010SIX3c.169G>A (p.Gly57Ser)
dbSNP gnomAD v4
2g.44942273G>CCA346799011SIX3c.169G>C (p.Gly57Arg)
2g.44942273G=CA2494535051SIX3c.169G= (p.Gly57=)
2g.44942273G>TCA346799012SIX3c.169G>T (p.Gly57Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.44942278_44942286dupCA2494535049SIX3c.174_182dup (p.Gly61_Ala62insAlaGlyGly)
dbSNP
2g.44942278_44942286delCA2658869521SIX3c.174_182del (p.Ala59_Gly61del)
gnomAD v4
2g.44942274G>ACA346799013SIX3c.170G>A (p.Gly57Asp)
gnomAD v4
2g.44942274G>CCA346799014SIX3c.170G>C (p.Gly57Ala)
2g.44942274G>TCA346799015SIX3c.170G>T (p.Gly57Val)
gnomAD v4
2g.44942275C>ACA426126381SIX3c.171C>A (p.Gly57=)
gnomAD v4
2g.44942275C=CA2494535053SIX3c.171C= (p.Gly57=)
2g.44942275C>GCA426126382SIX3c.171C>G (p.Gly57=)
2g.44942275C>TCA1642276SIX3c.171C>T (p.Gly57=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942276G>ACA346799016SIX3c.172G>A (p.Gly58Ser)
2g.44942276G>CCA346799017SIX3c.172G>C (p.Gly58Arg)
2g.44942276G=CA2494535058SIX3c.172G= (p.Gly58=)
2g.44942276G>TCA1642277SIX3c.172G>T (p.Gly58Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942278_44942283delCA2658869523SIX3c.174_179del (p.Ala59_Gly60del)
gnomAD v4
2g.44942277G>ACA346799020SIX3c.173G>A (p.Gly58Asp)
2g.44942277G>CCA346799019SIX3c.173G>C (p.Gly58Ala)
2g.44942277G>TCA346799018SIX3c.173G>T (p.Gly58Val)
2g.44942278T>ACA426126384SIX3c.174T>A (p.Gly58=)
2g.44942278T>CCA426126385SIX3c.174T>C (p.Gly58=)
gnomAD v4
2g.44942278T>GCA426126387SIX3c.174T>G (p.Gly58=)
dbSNP
2g.44942279G>ACA346799021SIX3c.175G>A (p.Ala59Thr)
gnomAD v4
2g.44942279G>CCA346799022SIX3c.175G>C (p.Ala59Pro)
2g.44942279G>TCA346799023SIX3c.175G>T (p.Ala59Ser)
2g.44942280C>ACA346799024SIX3c.176C>A (p.Ala59Asp)
gnomAD v4
2g.44942280C>GCA346799025SIX3c.176C>G (p.Ala59Gly)
2g.44942280C>TCA346799026SIX3c.176C>T (p.Ala59Val)
gnomAD v4
2g.44942281T>ACA426126389SIX3c.177T>A (p.Ala59=)
2g.44942281T>CCA426126391SIX3c.177T>C (p.Ala59=)
2g.44942281T>GCA426126393SIX3c.177T>G (p.Ala59=)
2g.44942282G>ACA346799029SIX3c.178G>A (p.Gly60Ser)
gnomAD v4
2g.44942282G>CCA346799027SIX3c.178G>C (p.Gly60Arg)
2g.44942282G>TCA346799028SIX3c.178G>T (p.Gly60Cys)
2g.44942287_44942295delCA2658869524SIX3c.183_191del (p.Ala62_Gly64del)
gnomAD v4
2g.44942287_44942307delCA2658869525SIX3c.183_203del (p.Ala62_Gly68del)
gnomAD v4
2g.44942283G>ACA346799030SIX3c.179G>A (p.Gly60Asp)
gnomAD v4
2g.44942283G>CCA346799031SIX3c.179G>C (p.Gly60Ala)
2g.44942283G>TCA346799032SIX3c.179G>T (p.Gly60Val)
gnomAD v4
2g.44942284C>ACA426126397SIX3c.180C>A (p.Gly60=)
dbSNP gnomAD v3 gnomAD v4
2g.44942284C=CA2494535066SIX3c.180C= (p.Gly60=)
2g.44942284C>GCA1642278SIX3c.180C>G (p.Gly60=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942284C>TCA10606287SIX3c.180C>T (p.Gly60=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.44942285G>ACA1642279SIX3c.181G>A (p.Gly61Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942285G>CCA346799034SIX3c.181G>C (p.Gly61Arg)
2g.44942285G=CA2494535069SIX3c.181G= (p.Gly61=)
2g.44942285G>TCA346799033SIX3c.181G>T (p.Gly61Ter)
dbSNP gnomAD v3 gnomAD v4
2g.44942286G>ACA346799035SIX3c.182G>A (p.Gly61Glu)
dbSNP gnomAD v2 gnomAD v4
2g.44942286G>CCA346799036SIX3c.182G>C (p.Gly61Ala)
2g.44942286G=CA2494535071SIX3c.182G= (p.Gly61=)
2g.44942286G>TCA346799037SIX3c.182G>T (p.Gly61Val)
2g.44942287A=CA2494535073SIX3c.183A= (p.Gly61=)
2g.44942287A>CCA426126401SIX3c.183A>C (p.Gly61=)
gnomAD v4
2g.44942287A>GCA426126402SIX3c.183A>G (p.Gly61=)
2g.44942287A>TCA426126403SIX3c.183A>T (p.Gly61=)
dbSNP
2g.44942288G>ACA346799038SIX3c.184G>A (p.Ala62Thr)
dbSNP gnomAD v2 gnomAD v4
2g.44942288G>CCA346799039SIX3c.184G>C (p.Ala62Pro)
2g.44942288G=CA2494535075SIX3c.184G= (p.Ala62=)
2g.44942288G>TCA346799040SIX3c.184G>T (p.Ala62Ser)
gnomAD v4
2g.44942289C>ACA346799041SIX3c.185C>A (p.Ala62Glu)
gnomAD v4
2g.44942289C>GCA346799042SIX3c.185C>G (p.Ala62Gly)
2g.44942289C>TCA346799043SIX3c.185C>T (p.Ala62Val)
gnomAD v4
2g.44942290delCA2749734941SIX3c.186del (p.Gly63AlafsTer?)
2g.44942290A>CCA426126408SIX3c.186A>C (p.Ala62=)
gnomAD v4
2g.44942290A>GCA426126409SIX3c.186A>G (p.Ala62=)
gnomAD v4
2g.44942290A>TCA426126410SIX3c.186A>T (p.Ala62=)
2g.44942290_44942299delinsAGGCGGCGGCCA2494535077SIX3c.186_195delinsAGGCGGCGGC (p.Ala62=)
2g.44942291G>ACA346799045SIX3c.187G>A (p.Gly63Ser)
2g.44942291G>CCA346799046SIX3c.187G>C (p.Gly63Arg)
2g.44942291G>TCA346799044SIX3c.187G>T (p.Gly63Cys)
2g.44942309_44942311dupCA238818SIX3c.205_207dup (p.Gly69_Ser70insGly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942306_44942311dupCA47011043SIX3c.202_207dup (p.Gly69_Ser70insGlyGly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942303_44942311dupCA769177170SIX3c.199_207dup (p.Gly69_Ser70insGlyGlyGly)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.44942300_44942311dupCA1642282SIX3c.196_207dup (p.Gly69_Ser70insGlyGlyGlyGly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942309_44942311delCA1642280SIX3c.205_207del (p.Gly69del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.44942306_44942311delCA1030071104SIX3c.202_207del (p.Gly68_Gly69del)
dbSNP gnomAD v3 gnomAD v4
2g.44942303_44942311delCA1642281SIX3c.199_207del (p.Gly67_Gly69del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942300_44942311delCA2658869526SIX3c.196_207del (p.Gly66_Gly69del)
gnomAD v4
2g.44942292G>ACA346799048SIX3c.188G>A (p.Gly63Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942292G>CCA346799047SIX3c.188G>C (p.Gly63Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942292G=CA2494535089SIX3c.188G= (p.Gly63=)
2g.44942292G>TCA346799049SIX3c.188G>T (p.Gly63Val)
gnomAD v4
2g.44942293_44942294delCA2749734942SIX3c.189_190del (p.Gly64ArgfsTer?)
2g.44942293C>ACA426126415SIX3c.189C>A (p.Gly63=)
dbSNP gnomAD v3 gnomAD v4
2g.44942293C=CA2494535092SIX3c.189C= (p.Gly63=)
2g.44942293C>GCA426126416SIX3c.189C>G (p.Gly63=)
dbSNP
2g.44942293C>TCA426126417SIX3c.189C>T (p.Gly63=)
gnomAD v4
2g.44942294G>ACA346799052SIX3c.190G>A (p.Gly64Ser)
2g.44942294G>CCA346799050SIX3c.190G>C (p.Gly64Arg)
2g.44942294G>TCA346799051SIX3c.190G>T (p.Gly64Cys)
2g.44942295G>ACA1642283SIX3c.191G>A (p.Gly64Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942295G>CCA346799053SIX3c.191G>C (p.Gly64Ala)
2g.44942295G=CA2494535097SIX3c.191G= (p.Gly64=)
2g.44942295G>TCA346799054SIX3c.191G>T (p.Gly64Val)
gnomAD v4
2g.44942296C>ACA1642284SIX3c.192C>A (p.Gly64=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942296C=CA2494535099SIX3c.192C= (p.Gly64=)
2g.44942296C>GCA426126419SIX3c.192C>G (p.Gly64=)
2g.44942296C>TCA426126418SIX3c.192C>T (p.Gly64=)
gnomAD v4
2g.44942297G>ACA346799055SIX3c.193G>A (p.Gly65Ser)
gnomAD v4
2g.44942297G>CCA346799056SIX3c.193G>C (p.Gly65Arg)
2g.44942297G>TCA346799057SIX3c.193G>T (p.Gly65Cys)
2g.44942298G>ACA346799058SIX3c.194G>A (p.Gly65Asp)
2g.44942298G>CCA346799059SIX3c.194G>C (p.Gly65Ala)
2g.44942298G>TCA346799060SIX3c.194G>T (p.Gly65Val)
2g.44942299delCA2576956302SIX3c.195del (p.Gly66AlafsTer?)
2g.44942299C>ACA426126428SIX3c.195C>A (p.Gly65=)
gnomAD v4
2g.44942299C=CA2494535101SIX3c.195C= (p.Gly65=)
2g.44942299C>GCA426126425SIX3c.195C>G (p.Gly65=)
2g.44942299C>TCA426126427SIX3c.195C>T (p.Gly65=)
dbSNP gnomAD v3 gnomAD v4
2g.44942300G>ACA1642285SIX3c.196G>A (p.Gly66Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942300G>CCA346799062SIX3c.196G>C (p.Gly66Arg)
gnomAD v4
2g.44942300G=CA2494535103SIX3c.196G= (p.Gly66=)
2g.44942300G>TCA346799061SIX3c.196G>T (p.Gly66Cys)
2g.44942301G>ACA346799063SIX3c.197G>A (p.Gly66Asp)
2g.44942301G>CCA346799064SIX3c.197G>C (p.Gly66Ala)
2g.44942301G>TCA346799065SIX3c.197G>T (p.Gly66Val)
2g.44942302_44942303insAGCCA2576956303SIX3c.198_199insAGC (p.Gly66_Gly67insSer)
2g.44942302C>ACA426126436SIX3c.198C>A (p.Gly66=)
gnomAD v4
2g.44942302C=CA2494535106SIX3c.198C= (p.Gly66=)
2g.44942302C>GCA426126437SIX3c.198C>G (p.Gly66=)
2g.44942302C>TCA426126438SIX3c.198C>T (p.Gly66=)
dbSNP gnomAD v4
2g.44942303G>ACA346799066SIX3c.199G>A (p.Gly67Ser)
dbSNP gnomAD v3 gnomAD v4
2g.44942303G>CCA346799067SIX3c.199G>C (p.Gly67Arg)
gnomAD v4
2g.44942303G=CA2494535108SIX3c.199G= (p.Gly67=)
2g.44942303G>TCA346799068SIX3c.199G>T (p.Gly67Cys)
gnomAD v4
2g.44942304delCA2658869541SIX3c.200del (p.Gly67AlafsTer?)
gnomAD v4
2g.44942304G>ACA346799069SIX3c.200G>A (p.Gly67Asp)
2g.44942304G>CCA346799070SIX3c.200G>C (p.Gly67Ala)
dbSNP
2g.44942304G=CA2494535109SIX3c.200G= (p.Gly67=)
2g.44942304G>TCA346799071SIX3c.200G>T (p.Gly67Val)
2g.44942305_44942306delCA2658869543SIX3c.201_202del (p.Gly68ArgfsTer29)
gnomAD v4
2g.44942305C>ACA426126439SIX3c.201C>A (p.Gly67=)
gnomAD v4
2g.44942305C=CA2494535111SIX3c.201C= (p.Gly67=)
2g.44942305C>GCA426126440SIX3c.201C>G (p.Gly67=)
2g.44942305C>TCA426126441SIX3c.201C>T (p.Gly67=)
dbSNP gnomAD v3 gnomAD v4
2g.44942306G>ACA346799072SIX3c.202G>A (p.Gly68Ser)
2g.44942306G>CCA346799073SIX3c.202G>C (p.Gly68Arg)
2g.44942306G=CA2494535113SIX3c.202G= (p.Gly68=)
2g.44942306G>TCA346799074SIX3c.202G>T (p.Gly68Cys)
dbSNP gnomAD v4
2g.44942306_44942307delCA2658869545SIX3c.202_203del (p.Gly68ArgfsTer29)
gnomAD v4
2g.44942307G>ACA346799075SIX3c.203G>A (p.Gly68Asp)
2g.44942307G>CCA346799076SIX3c.203G>C (p.Gly68Ala)
2g.44942307G>TCA346799077SIX3c.203G>T (p.Gly68Val)
2g.44942308C>ACA426126446SIX3c.204C>A (p.Gly68=)
2g.44942308C=CA2494535115SIX3c.204C= (p.Gly68=)
2g.44942308C>GCA426126447SIX3c.204C>G (p.Gly68=)
2g.44942308C>TCA426126448SIX3c.204C>T (p.Gly68=)
dbSNP gnomAD v2 gnomAD v4
2g.44942309G>ACA346799078SIX3c.205G>A (p.Gly69Ser)
gnomAD v4
2g.44942309G>CCA346799079SIX3c.205G>C (p.Gly69Arg)
2g.44942309G>TCA346799080SIX3c.205G>T (p.Gly69Cys)
ClinVar
2g.44942310G>ACA253772SIX3c.206G>A (p.Gly69Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.[44942310G>A;44942510_44942511dup]CA658682642SIX3c.[206G>A;406_407dup] (p.[Gly69Asp;Val137ProfsTer?])
2g.44942310G>CCA346799081SIX3c.206G>C (p.Gly69Ala)
2g.44942310G=CA2494535120SIX3c.206G= (p.Gly69=)
2g.44942310G>TCA346799082SIX3c.206G>T (p.Gly69Val)
gnomAD v4
2g.44942311C>ACA426126454SIX3c.207C>A (p.Gly69=)
gnomAD v4
2g.44942311C=CA2494535124SIX3c.207C= (p.Gly69=)
2g.44942311C>GCA426126455SIX3c.207C>G (p.Gly69=)
2g.44942311C>TCA426126456SIX3c.207C>T (p.Gly69=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.44942312T>ACA346799083SIX3c.208T>A (p.Ser70Thr)
2g.44942312T>CCA346799084SIX3c.208T>C (p.Ser70Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.44942312T>GCA346799085SIX3c.208T>G (p.Ser70Ala)
2g.44942312T=CA2494535126SIX3c.208T= (p.Ser70=)
2g.44942313C>ACA346799086SIX3c.209C>A (p.Ser70Tyr)
gnomAD v4
2g.44942313C>GCA346799087SIX3c.209C>G (p.Ser70Cys)
ClinVar
2g.44942313C>TCA346799088SIX3c.209C>T (p.Ser70Phe)
2g.44942314C>ACA426126459SIX3c.210C>A (p.Ser70=)
2g.44942314C>GCA426126460SIX3c.210C>G (p.Ser70=)
2g.44942314C>TCA426126461SIX3c.210C>T (p.Ser70=)
2g.44942315A>CCA426126462SIX3c.211A>C (p.Arg71=)
2g.44942315A>GCA346799090SIX3c.211A>G (p.Arg71Gly)
gnomAD v4
2g.44942315A>TCA346799089SIX3c.211A>T (p.Arg71Trp)
2g.44942316G>ACA346799091SIX3c.212G>A (p.Arg71Lys)
dbSNP gnomAD v2 gnomAD v4
2g.44942316G>CCA346799092SIX3c.212G>C (p.Arg71Thr)
2g.44942316G=CA2494535132SIX3c.212G= (p.Arg71=)
2g.44942316G>TCA346799093SIX3c.212G>T (p.Arg71Met)
2g.44942318delCA2658869556SIX3c.214del (p.Ala72ProfsTer?)
gnomAD v4
2g.44942317G>ACA426126468SIX3c.213G>A (p.Arg71=)
2g.44942317G>CCA346799094SIX3c.213G>C (p.Arg71Ser)
2g.44942317G=CA2494535136SIX3c.213G= (p.Arg71=)
2g.44942317G>TCA346799095SIX3c.213G>T (p.Arg71Ser)
dbSNP gnomAD v2 gnomAD v4
2g.44942318G>ACA346799096SIX3c.214G>A (p.Ala72Thr)
gnomAD v4
2g.44942318G>CCA346799097SIX3c.214G>C (p.Ala72Pro)
dbSNP gnomAD v2 gnomAD v4
2g.44942318G=CA2494535141SIX3c.214G= (p.Ala72=)
2g.44942318G>TCA1642288SIX3c.214G>T (p.Ala72Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942318_44942319delinsGCCA2494535139SIX3c.214_215delinsGC (p.Ala72=)
2g.44942319C>ACA346799098SIX3c.215C>A (p.Ala72Asp)
dbSNP gnomAD v4
2g.44942319C=CA2494535146SIX3c.215C= (p.Ala72=)
2g.44942319C>GCA346799099SIX3c.215C>G (p.Ala72Gly)
2g.44942319C>TCA1642289SIX3c.215C>T (p.Ala72Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.44942325dupCA1642286SIX3c.221dup (p.Glu75GlyfsTer23)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.44942324_44942325dupCA2749734943SIX3c.220_221dup (p.Glu75ArgfsTer?)
2g.44942325delCA1642287SIX3c.221del (p.Pro74ArgfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.44942323_44942325delCA2580066542SIX3c.219_221del (p.Pro74del)
ClinVar
2g.44942320C>ACA1642291SIX3c.216C>A (p.Ala72=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.44942320C=CA2494535150SIX3c.216C= (p.Ala72=)
2g.44942320C>GCA426126477SIX3c.216C>G (p.Ala72=)
gnomAD v4
2g.44942320C>TCA1642290SIX3c.216C>T (p.Ala72=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.44942321C>ACA346799100SIX3c.217C>A (p.Pro73Thr)
dbSNP gnomAD v2 gnomAD v4
2g.44942321C=CA2494535155SIX3c.217C= (p.Pro73=)
2g.44942321C>GCA346799101SIX3c.217C>G (p.Pro73Ala)
2g.44942321C>TCA47011044SIX3c.217C>T (p.Pro73Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched