2 | g.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC | CA2494534932 | SIX3 | c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC (p.Ser31=)
| |
2 | g.44942230_44942277dup | CA2597075087 | SIX3 | c.126_173dup (p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGlyAlaGlyGlyGlyGly)
| gnomAD v3 gnomAD v4 |
2 | g.44942230_44942277del | CA1642255 | SIX3 | c.126_173del (p.Gly43_Gly58del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942209_44942232dup | CA2658869331 | SIX3 | c.105_128dup (p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly)
| gnomAD v4 |
2 | g.44942209_44942232del | CA2658869333 | SIX3 | c.105_128del (p.Asn36_Gly43del)
| gnomAD v4 |
2 | g.44942211_44942229delinsACGGTGCGGGAGGCGGCGG | CA2494534953 | SIX3 | c.107_125delinsACGGTGCGGGAGGCGGCGG (p.Asn36=)
| |
2 | g.44942215_44942232dup | CA1642260 | SIX3 | c.111_128dup (p.Gly43_Ala44insAlaGlyGlyGlyGlyGly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942215_44942232del | CA2494534957 | SIX3 | c.111_128del (p.Ala38_Gly43del)
| dbSNP gnomAD v4 |
2 | g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGC | CA2494534963 | SIX3 | c.111_129delinsTGCGGGAGGCGGCGGCGGC (p.Gly37=)
| |
2 | g.44942228_44942245dup | CA2658869389 | SIX3 | c.124_141dup (p.Gly47_Ser48insGlyGlyAlaGlyGlyGly)
| dbSNP gnomAD v4 |
2 | g.44942228_44942245del | CA1642261 | SIX3 | c.124_141del (p.Gly42_Gly47del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942219G>A | CA346798908 | SIX3 | c.115G>A (p.Gly39Arg)
| dbSNP gnomAD v4 |
2 | g.44942219G>C | CA346798909 | SIX3 | c.115G>C (p.Gly39Arg)
| |
2 | g.44942219G= | CA2494534969 | SIX3 | c.115G= (p.Gly39=)
| |
2 | g.44942219G>T | CA346798907 | SIX3 | c.115G>T (p.Gly39Ter)
| gnomAD v4 |
2 | g.44942220G>A | CA346798910 | SIX3 | c.116G>A (p.Gly39Glu)
| gnomAD v4 |
2 | g.44942220G>C | CA346798911 | SIX3 | c.116G>C (p.Gly39Ala)
| gnomAD v4 |
2 | g.44942220G>T | CA346798912 | SIX3 | c.116G>T (p.Gly39Val)
| gnomAD v4 |
2 | g.44942221A>C | CA426126334 | SIX3 | c.117A>C (p.Gly39=)
| |
2 | g.44942221A>G | CA426126335 | SIX3 | c.117A>G (p.Gly39=)
| gnomAD v4 |
2 | g.44942221A>T | CA426126336 | SIX3 | c.117A>T (p.Gly39=)
| gnomAD v4 |
2 | g.44942221_44942224delinsAGGC | CA2494534971 | SIX3 | c.117_120delinsAGGC (p.Gly39=)
| |
2 | g.44942222G>A | CA346798913 | SIX3 | c.118G>A (p.Gly40Ser)
| |
2 | g.44942222G>C | CA346798914 | SIX3 | c.118G>C (p.Gly40Arg)
| gnomAD v4 |
2 | g.44942222G>T | CA346798915 | SIX3 | c.118G>T (p.Gly40Cys)
| gnomAD v4 |
2 | g.44942232_44942234dup | CA1642265 | SIX3 | c.128_130dup (p.Gly43_Ala44insGly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942232_44942234del | CA532706661 | SIX3 | c.128_130del (p.Gly43del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942230_44942256del | CA2749734938 | SIX3 | c.126_152del (p.Gly43_Gly51del)
| |
2 | g.44942235_44942306del | CA2658869408 | SIX3 | c.131_202del (p.Ala44_Gly67del)
| gnomAD v4 |
2 | g.44942223G>A | CA346798916 | SIX3 | c.119G>A (p.Gly40Asp)
| |
2 | g.44942223G>C | CA346798917 | SIX3 | c.119G>C (p.Gly40Ala)
| |
2 | g.44942223G>T | CA346798918 | SIX3 | c.119G>T (p.Gly40Val)
| |
2 | g.44942224C>A | CA426126337 | SIX3 | c.120C>A (p.Gly40=)
| ClinVar dbSNP gnomAD v4 |
2 | g.44942224C>G | CA426126339 | SIX3 | c.120C>G (p.Gly40=)
| |
2 | g.44942224C>T | CA426126338 | SIX3 | c.120C>T (p.Gly40=)
| gnomAD v4 |
2 | g.44942225G>A | CA346798919 | SIX3 | c.121G>A (p.Gly41Ser)
| gnomAD v4 |
2 | g.44942225G>C | CA346798920 | SIX3 | c.121G>C (p.Gly41Arg)
| |
2 | g.44942225G= | CA2494534973 | SIX3 | c.121G= (p.Gly41=)
| |
2 | g.44942225G>T | CA346798921 | SIX3 | c.121G>T (p.Gly41Cys)
| gnomAD v4 |
2 | g.44942225_44942246delinsGGCGGCGGCGCGGGAGGCGGCA | CA2494534974 | SIX3 | c.121_142delinsGGCGGCGGCGCGGGAGGCGGCA (p.Gly41=)
| |
2 | g.44942226G>A | CA346798924 | SIX3 | c.122G>A (p.Gly41Asp)
| |
2 | g.44942226G>C | CA346798923 | SIX3 | c.122G>C (p.Gly41Ala)
| |
2 | g.44942226G>T | CA346798922 | SIX3 | c.122G>T (p.Gly41Val)
| gnomAD v4 |
2 | g.44942227_44942228insAGC | CA769176972 | SIX3 | c.123_124insAGC (p.Gly41_Gly42insSer)
| dbSNP |
2 | g.44942235_44942255dup | CA916524990 | SIX3 | c.131_151dup (p.Gly50_Gly51insAlaGlyGlyGlySerGlyGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942235_44942255del | CA2494534976 | SIX3 | c.131_151del (p.Ala44_Gly50del)
| dbSNP |
2 | g.44942227C>A | CA426126340 | SIX3 | c.123C>A (p.Gly41=)
| |
2 | g.44942227C>G | CA426126341 | SIX3 | c.123C>G (p.Gly41=)
| |
2 | g.44942227C>T | CA426126342 | SIX3 | c.123C>T (p.Gly41=)
| gnomAD v4 |
2 | g.44942228G>A | CA346798925 | SIX3 | c.124G>A (p.Gly42Ser)
| gnomAD v4 |
2 | g.44942228G>C | CA346798926 | SIX3 | c.124G>C (p.Gly42Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942228G= | CA2494534978 | SIX3 | c.124G= (p.Gly42=)
| |
2 | g.44942228G>T | CA346798927 | SIX3 | c.124G>T (p.Gly42Cys)
| gnomAD v4 |
2 | g.44942234_44942245dup | CA2576956287 | SIX3 | c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)
| ClinVar |
2 | g.44942229G>A | CA346798928 | SIX3 | c.125G>A (p.Gly42Asp)
| gnomAD v4 |
2 | g.44942229G>C | CA346798929 | SIX3 | c.125G>C (p.Gly42Ala)
| |
2 | g.44942229G>T | CA346798930 | SIX3 | c.125G>T (p.Gly42Val)
| |
2 | g.44942230_44942231del | CA2658869441 | SIX3 | c.126_127del (p.Gly43ArgfsTer?)
| gnomAD v4 |
2 | g.44942235_44942252del | CA1030071070 | SIX3 | c.131_148del (p.Ala44_Gly49del)
| gnomAD v3 gnomAD v4 |
2 | g.44942230C>A | CA426126343 | SIX3 | c.126C>A (p.Gly42=)
| |
2 | g.44942230C>G | CA426126344 | SIX3 | c.126C>G (p.Gly42=)
| |
2 | g.44942230C>T | CA426126345 | SIX3 | c.126C>T (p.Gly42=)
| gnomAD v4 |
2 | g.44942231G>A | CA346798931 | SIX3 | c.127G>A (p.Gly43Ser)
| gnomAD v4 |
2 | g.44942231G>C | CA346798932 | SIX3 | c.127G>C (p.Gly43Arg)
| |
2 | g.44942231G= | CA2494534980 | SIX3 | c.127G= (p.Gly43=)
| |
2 | g.44942231G>T | CA346798933 | SIX3 | c.127G>T (p.Gly43Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942232del | CA2658869460 | SIX3 | c.128del (p.Gly43AlafsTer?)
| gnomAD v4 |
2 | g.44942235_44942243del | CA2658869454 | SIX3 | c.131_139del (p.Ala44_Gly46del)
| gnomAD v4 |
2 | g.44942235_44942285del | CA2544789187 | SIX3 | c.131_181del (p.Ala44_Gly60del)
| |
2 | g.44942232G>A | CA346798934 | SIX3 | c.128G>A (p.Gly43Asp)
| gnomAD v4 |
2 | g.44942232G>C | CA346798935 | SIX3 | c.128G>C (p.Gly43Ala)
| |
2 | g.44942232G>T | CA346798936 | SIX3 | c.128G>T (p.Gly43Val)
| gnomAD v4 |
2 | g.44942235_44942249del | CA2749734939 | SIX3 | c.131_145del (p.Ala44_Ser48del)
| |
2 | g.44942233C>A | CA426126346 | SIX3 | c.129C>A (p.Gly43=)
| gnomAD v4 |
2 | g.44942233C= | CA2494534983 | SIX3 | c.129C= (p.Gly43=)
| |
2 | g.44942233C>G | CA426126347 | SIX3 | c.129C>G (p.Gly43=)
| |
2 | g.44942233C>T | CA426126348 | SIX3 | c.129C>T (p.Gly43=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942233_44942263delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGT | CA2494534982 | SIX3 | c.129_159delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGT (p.Gly43=)
| |
2 | g.44942234G>A | CA346798938 | SIX3 | c.130G>A (p.Ala44Thr)
| |
2 | g.44942234G>C | CA346798937 | SIX3 | c.130G>C (p.Ala44Pro)
| |
2 | g.44942234G>T | CA346798939 | SIX3 | c.130G>T (p.Ala44Ser)
| |
2 | g.44942240_44942258dup | CA2658869468 | SIX3 | c.136_154dup (p.Asn52ArgfsTer?)
| gnomAD v4 |
2 | g.44942246_44942275del | CA1642266 | SIX3 | c.142_171del (p.Ser48_Gly57del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942235C>A | CA346798941 | SIX3 | c.131C>A (p.Ala44Glu)
| |
2 | g.44942235C>G | CA346798940 | SIX3 | c.131C>G (p.Ala44Gly)
| |
2 | g.44942235C>T | CA346798942 | SIX3 | c.131C>T (p.Ala44Val)
| gnomAD v4 |
2 | g.44942235_44942246del | CA2576956291 | SIX3 | c.131_142del (p.Ala44_Ser48delinsGly)
| |
2 | g.44942236G>A | CA426126349 | SIX3 | c.132G>A (p.Ala44=)
| dbSNP gnomAD v2 |
2 | g.44942236G>C | CA426126350 | SIX3 | c.132G>C (p.Ala44=)
| |
2 | g.44942236G= | CA2494534985 | SIX3 | c.132G= (p.Ala44=)
| |
2 | g.44942236G>T | CA426126351 | SIX3 | c.132G>T (p.Ala44=)
| dbSNP gnomAD v4 |
2 | g.44942237G>A | CA346798943 | SIX3 | c.133G>A (p.Gly45Arg)
| gnomAD v4 |
2 | g.44942237G>C | CA346798944 | SIX3 | c.133G>C (p.Gly45Arg)
| |
2 | g.44942237G>T | CA346798945 | SIX3 | c.133G>T (p.Gly45Ter)
| |
2 | g.44942238G>A | CA47011039 | SIX3 | c.134G>A (p.Gly45Glu)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942238G>C | CA346798946 | SIX3 | c.134G>C (p.Gly45Ala)
| |
2 | g.44942238G= | CA2494534987 | SIX3 | c.134G= (p.Gly45=)
| |
2 | g.44942238G>T | CA346798947 | SIX3 | c.134G>T (p.Gly45Val)
| gnomAD v4 |
2 | g.44942239A>C | CA426126352 | SIX3 | c.135A>C (p.Gly45=)
| |
2 | g.44942239A>G | CA426126353 | SIX3 | c.135A>G (p.Gly45=)
| |
2 | g.44942239A>T | CA426126354 | SIX3 | c.135A>T (p.Gly45=)
| |
2 | g.44942239_44942248delinsAGGCGGCAGC | CA2494534989 | SIX3 | c.135_144delinsAGGCGGCAGC (p.Gly45=)
| |
2 | g.44942240G>A | CA346798948 | SIX3 | c.136G>A (p.Gly46Ser)
| gnomAD v4 |
2 | g.44942240G>C | CA346798949 | SIX3 | c.136G>C (p.Gly46Arg)
| |
2 | g.44942240G>T | CA346798950 | SIX3 | c.136G>T (p.Gly46Cys)
| |
2 | g.44942243_44942245dup | CA913090548 | SIX3 | c.139_141dup (p.Gly47_Ser48insGly)
| |
2 | g.44942246_44942254dup | CA47011040 | SIX3 | c.142_150dup (p.Gly50_Gly51insSerGlyGly)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942246_44942254del | CA532706662 | SIX3 | c.142_150del (p.Ser48_Gly50del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942241G>A | CA346798951 | SIX3 | c.137G>A (p.Gly46Asp)
| |
2 | g.44942241G>C | CA346798952 | SIX3 | c.137G>C (p.Gly46Ala)
| |
2 | g.44942241G>T | CA346798953 | SIX3 | c.137G>T (p.Gly46Val)
| gnomAD v4 |
2 | g.44942242C>A | CA426126355 | SIX3 | c.138C>A (p.Gly46=)
| |
2 | g.44942242C>G | CA426126356 | SIX3 | c.138C>G (p.Gly46=)
| |
2 | g.44942242C>T | CA426126357 | SIX3 | c.138C>T (p.Gly46=)
| dbSNP gnomAD v4 |
2 | g.44942243G>A | CA346798956 | SIX3 | c.139G>A (p.Gly47Ser)
| gnomAD v4 |
2 | g.44942243G>C | CA346798954 | SIX3 | c.139G>C (p.Gly47Arg)
| |
2 | g.44942243G= | CA2494534993 | SIX3 | c.139G= (p.Gly47=)
| |
2 | g.44942243G>T | CA346798955 | SIX3 | c.139G>T (p.Gly47Cys)
| dbSNP |
2 | g.44942243_44942246delinsGGCA | CA2494534994 | SIX3 | c.139_142delinsGGCA (p.Gly47=)
| |
2 | g.44942243_44942244insA | CA916524991 | SIX3 | c.139_140insA (p.Gly47GlufsTer?)
| dbSNP |
2 | g.44942244G>A | CA346798957 | SIX3 | c.140G>A (p.Gly47Asp)
| gnomAD v4 |
2 | g.44942244G>C | CA346798958 | SIX3 | c.140G>C (p.Gly47Ala)
| |
2 | g.44942244G>T | CA346798959 | SIX3 | c.140G>T (p.Gly47Val)
| ClinVar dbSNP |
2 | g.44942246_44942248del | CA645537517 | SIX3 | c.142_144del (p.Ser48del)
| dbSNP COSMIC |
2 | g.44942245C>A | CA426126358 | SIX3 | c.141C>A (p.Gly47=)
| |
2 | g.44942245C>G | CA426126360 | SIX3 | c.141C>G (p.Gly47=)
| |
2 | g.44942245C>T | CA426126359 | SIX3 | c.141C>T (p.Gly47=)
| gnomAD v4 |
2 | g.44942246A= | CA2494534996 | SIX3 | c.142A= (p.Ser48=)
| |
2 | g.44942246A>C | CA346798960 | SIX3 | c.142A>C (p.Ser48Arg)
| gnomAD v4 |
2 | g.44942246A>G | CA1642267 | SIX3 | c.142A>G (p.Ser48Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942246A>T | CA346798961 | SIX3 | c.142A>T (p.Ser48Cys)
| |
2 | g.44942247G>A | CA346798962 | SIX3 | c.143G>A (p.Ser48Asn)
| |
2 | g.44942247G>C | CA346798963 | SIX3 | c.143G>C (p.Ser48Thr)
| |
2 | g.44942247G>T | CA346798964 | SIX3 | c.143G>T (p.Ser48Ile)
| |
2 | g.44942254_44942256del | CA2658869504 | SIX3 | c.150_152del (p.Gly51del)
| gnomAD v4 |
2 | g.44942248_44942277del | CA2511709874 | SIX3 | c.144_173del (p.Gly49_Gly58del)
| |
2 | g.44942248C>A | CA346798965 | SIX3 | c.144C>A (p.Ser48Arg)
| |
2 | g.44942248C= | CA2494535000 | SIX3 | c.144C= (p.Ser48=)
| |
2 | g.44942248C>G | CA346798966 | SIX3 | c.144C>G (p.Ser48Arg)
| |
2 | g.44942248C>T | CA426126361 | SIX3 | c.144C>T (p.Ser48=)
| dbSNP gnomAD v4 |
2 | g.44942249G>A | CA346798969 | SIX3 | c.145G>A (p.Gly49Ser)
| dbSNP gnomAD v4 |
2 | g.44942249G>C | CA346798968 | SIX3 | c.145G>C (p.Gly49Arg)
| |
2 | g.44942249G= | CA2494535004 | SIX3 | c.145G= (p.Gly49=)
| |
2 | g.44942249G>T | CA346798967 | SIX3 | c.145G>T (p.Gly49Cys)
| |
2 | g.44942257_44942277dup | CA2658869505 | SIX3 | c.153_173dup (p.Gly58_Ala59insAsnGlyAlaGlyGlyGlyGly)
| gnomAD v4 |
2 | g.44942257_44942277del | CA2658869506 | SIX3 | c.153_173del (p.Asn52_Gly58del)
| gnomAD v4 |
2 | g.44942250G>A | CA346798970 | SIX3 | c.146G>A (p.Gly49Asp)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942250G>C | CA346798971 | SIX3 | c.146G>C (p.Gly49Ala)
| |
2 | g.44942250G= | CA2494535007 | SIX3 | c.146G= (p.Gly49=)
| |
2 | g.44942250G>T | CA346798972 | SIX3 | c.146G>T (p.Gly49Val)
| |
2 | g.44942251C>A | CA426126362 | SIX3 | c.147C>A (p.Gly49=)
| |
2 | g.44942251C= | CA2494535009 | SIX3 | c.147C= (p.Gly49=)
| |
2 | g.44942251C>G | CA426126363 | SIX3 | c.147C>G (p.Gly49=)
| |
2 | g.44942251C>T | CA426126364 | SIX3 | c.147C>T (p.Gly49=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942252G>A | CA346798973 | SIX3 | c.148G>A (p.Gly50Ser)
| dbSNP gnomAD v4 |
2 | g.44942252G>C | CA346798974 | SIX3 | c.148G>C (p.Gly50Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942252G= | CA2494535011 | SIX3 | c.148G= (p.Gly50=)
| |
2 | g.44942252G>T | CA346798975 | SIX3 | c.148G>T (p.Gly50Cys)
| gnomAD v4 |
2 | g.44942253del | CA2576956298 | SIX3 | c.149del (p.Gly50AlafsTer?)
| gnomAD v4 |
2 | g.44942253G>A | CA346798976 | SIX3 | c.149G>A (p.Gly50Asp)
| gnomAD v4 |
2 | g.44942253G>C | CA346798977 | SIX3 | c.149G>C (p.Gly50Ala)
| |
2 | g.44942253G= | CA2494535013 | SIX3 | c.149G= (p.Gly50=)
| |
2 | g.44942253G>T | CA1642268 | SIX3 | c.149G>T (p.Gly50Val)
| dbSNP ExAC gnomAD v2 |
2 | g.44942254C>A | CA426126365 | SIX3 | c.150C>A (p.Gly50=)
| |
2 | g.44942254C= | CA2494535015 | SIX3 | c.150C= (p.Gly50=)
| |
2 | g.44942254C>G | CA426126366 | SIX3 | c.150C>G (p.Gly50=)
| |
2 | g.44942254C>T | CA426126367 | SIX3 | c.150C>T (p.Gly50=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942255G>A | CA346798978 | SIX3 | c.151G>A (p.Gly51Arg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942255G>C | CA47011041 | SIX3 | c.151G>C (p.Gly51Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942255G= | CA2494535019 | SIX3 | c.151G= (p.Gly51=)
| |
2 | g.44942255G>T | CA1642269 | SIX3 | c.151G>T (p.Gly51Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942256G>A | CA1642270 | SIX3 | c.152G>A (p.Gly51Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942256G>C | CA346798979 | SIX3 | c.152G>C (p.Gly51Ala)
| |
2 | g.44942256G= | CA2494535021 | SIX3 | c.152G= (p.Gly51=)
| |
2 | g.44942256G>T | CA346798980 | SIX3 | c.152G>T (p.Gly51Val)
| |
2 | g.44942257G>A | CA426126368 | SIX3 | c.153G>A (p.Gly51=)
| |
2 | g.44942257G>C | CA426126369 | SIX3 | c.153G>C (p.Gly51=)
| gnomAD v4 |
2 | g.44942257G= | CA2494535023 | SIX3 | c.153G= (p.Gly51=)
| |
2 | g.44942257G>T | CA1642271 | SIX3 | c.153G>T (p.Gly51=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942257_44942258insCTCCTCTCCTCTCAGGTCAGTCCATGGTATTCCGCTCCCCCCT | CA2749734940 | SIX3 | c.153_154insCTCCTCTCCTCTCAGGTCAGTCCATGGTATTCCGCTCCCCCCT (p.Asn52LeufsTer15)
| |
2 | g.44942258A>C | CA346798981 | SIX3 | c.154A>C (p.Asn52His)
| |
2 | g.44942258A>G | CA346798982 | SIX3 | c.154A>G (p.Asn52Asp)
| |
2 | g.44942258A>T | CA346798983 | SIX3 | c.154A>T (p.Asn52Tyr)
| ClinVar |
2 | g.44942259A>C | CA346798984 | SIX3 | c.155A>C (p.Asn52Thr)
| gnomAD v3 gnomAD v4 |
2 | g.44942259A>G | CA346798985 | SIX3 | c.155A>G (p.Asn52Ser)
| |
2 | g.44942259A>T | CA346798986 | SIX3 | c.155A>T (p.Asn52Ile)
| |
2 | g.44942260C>A | CA346798987 | SIX3 | c.156C>A (p.Asn52Lys)
| |
2 | g.44942260C= | CA2494535024 | SIX3 | c.156C= (p.Asn52=)
| |
2 | g.44942260C>G | CA346798988 | SIX3 | c.156C>G (p.Asn52Lys)
| |
2 | g.44942260C>T | CA426126370 | SIX3 | c.156C>T (p.Asn52=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942261G>A | CA346798989 | SIX3 | c.157G>A (p.Gly53Ser)
| |
2 | g.44942261G>C | CA1642272 | SIX3 | c.157G>C (p.Gly53Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942261G= | CA2494535026 | SIX3 | c.157G= (p.Gly53=)
| |
2 | g.44942261G>T | CA346798990 | SIX3 | c.157G>T (p.Gly53Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942262G>A | CA346798992 | SIX3 | c.158G>A (p.Gly53Asp)
| |
2 | g.44942262G>C | CA1642273 | SIX3 | c.158G>C (p.Gly53Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942262G= | CA2494535027 | SIX3 | c.158G= (p.Gly53=)
| |
2 | g.44942262G>T | CA346798991 | SIX3 | c.158G>T (p.Gly53Val)
| |
2 | g.44942263T>A | CA426126371 | SIX3 | c.159T>A (p.Gly53=)
| |
2 | g.44942263T>C | CA426126372 | SIX3 | c.159T>C (p.Gly53=)
| |
2 | g.44942263T>G | CA426126373 | SIX3 | c.159T>G (p.Gly53=)
| dbSNP |
2 | g.44942264G>A | CA346798995 | SIX3 | c.160G>A (p.Ala54Thr)
| |
2 | g.44942264G>C | CA346798993 | SIX3 | c.160G>C (p.Ala54Pro)
| |
2 | g.44942264G>T | CA346798994 | SIX3 | c.160G>T (p.Ala54Ser)
| |
2 | g.44942265C>A | CA346798996 | SIX3 | c.161C>A (p.Ala54Glu)
| dbSNP gnomAD v4 |
2 | g.44942265C= | CA2494535029 | SIX3 | c.161C= (p.Ala54=)
| |
2 | g.44942265C>G | CA346798997 | SIX3 | c.161C>G (p.Ala54Gly)
| |
2 | g.44942265C>T | CA346798998 | SIX3 | c.161C>T (p.Ala54Val)
| gnomAD v4 |
2 | g.44942266G>A | CA47011042 | SIX3 | c.162G>A (p.Ala54=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942266G>C | CA426126375 | SIX3 | c.162G>C (p.Ala54=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942266G= | CA2494535031 | SIX3 | c.162G= (p.Ala54=)
| |
2 | g.44942266G>T | CA426126374 | SIX3 | c.162G>T (p.Ala54=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942267G>A | CA346799001 | SIX3 | c.163G>A (p.Gly55Arg)
| |
2 | g.44942267G>C | CA346799000 | SIX3 | c.163G>C (p.Gly55Arg)
| dbSNP gnomAD v4 |
2 | g.44942267G= | CA2494535036 | SIX3 | c.163G= (p.Gly55=)
| |
2 | g.44942267G>T | CA346798999 | SIX3 | c.163G>T (p.Gly55Ter)
| |
2 | g.44942268G>A | CA1642274 | SIX3 | c.164G>A (p.Gly55Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942268G>C | CA346799002 | SIX3 | c.164G>C (p.Gly55Ala)
| |
2 | g.44942268G= | CA2494535038 | SIX3 | c.164G= (p.Gly55=)
| |
2 | g.44942268G>T | CA346799003 | SIX3 | c.164G>T (p.Gly55Val)
| |
2 | g.44942269A>C | CA426126378 | SIX3 | c.165A>C (p.Gly55=)
| gnomAD v4 |
2 | g.44942269A>G | CA426126377 | SIX3 | c.165A>G (p.Gly55=)
| |
2 | g.44942269A>T | CA426126376 | SIX3 | c.165A>T (p.Gly55=)
| gnomAD v4 |
2 | g.44942270G>A | CA346799004 | SIX3 | c.166G>A (p.Gly56Ser)
| dbSNP |
2 | g.44942270G>C | CA346799005 | SIX3 | c.166G>C (p.Gly56Arg)
| gnomAD v3 gnomAD v4 |
2 | g.44942270G= | CA2494535040 | SIX3 | c.166G= (p.Gly56=)
| |
2 | g.44942270G>T | CA346799006 | SIX3 | c.166G>T (p.Gly56Cys)
| |
2 | g.44942271G>A | CA346799007 | SIX3 | c.167G>A (p.Gly56Asp)
| |
2 | g.44942271G>C | CA346799009 | SIX3 | c.167G>C (p.Gly56Ala)
| |
2 | g.44942271G>T | CA346799008 | SIX3 | c.167G>T (p.Gly56Val)
| |
2 | g.44942271_44942272delinsGC | CA2494535042 | SIX3 | c.167_168delinsGC (p.Gly56=)
| |
2 | g.44942272del | CA532706663 | SIX3 | c.168del (p.Gly57AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942272C>A | CA426126379 | SIX3 | c.168C>A (p.Gly56=)
| gnomAD v4 |
2 | g.44942272C= | CA2494535046 | SIX3 | c.168C= (p.Gly56=)
| |
2 | g.44942272C>G | CA426126380 | SIX3 | c.168C>G (p.Gly56=)
| |
2 | g.44942272C>T | CA1642275 | SIX3 | c.168C>T (p.Gly56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942273G>A | CA346799010 | SIX3 | c.169G>A (p.Gly57Ser)
| dbSNP gnomAD v4 |
2 | g.44942273G>C | CA346799011 | SIX3 | c.169G>C (p.Gly57Arg)
| |
2 | g.44942273G= | CA2494535051 | SIX3 | c.169G= (p.Gly57=)
| |
2 | g.44942273G>T | CA346799012 | SIX3 | c.169G>T (p.Gly57Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942278_44942286dup | CA2494535049 | SIX3 | c.174_182dup (p.Gly61_Ala62insAlaGlyGly)
| dbSNP |
2 | g.44942278_44942286del | CA2658869521 | SIX3 | c.174_182del (p.Ala59_Gly61del)
| gnomAD v4 |
2 | g.44942274G>A | CA346799013 | SIX3 | c.170G>A (p.Gly57Asp)
| gnomAD v4 |
2 | g.44942274G>C | CA346799014 | SIX3 | c.170G>C (p.Gly57Ala)
| |
2 | g.44942274G>T | CA346799015 | SIX3 | c.170G>T (p.Gly57Val)
| gnomAD v4 |
2 | g.44942275C>A | CA426126381 | SIX3 | c.171C>A (p.Gly57=)
| gnomAD v4 |
2 | g.44942275C= | CA2494535053 | SIX3 | c.171C= (p.Gly57=)
| |
2 | g.44942275C>G | CA426126382 | SIX3 | c.171C>G (p.Gly57=)
| |
2 | g.44942275C>T | CA1642276 | SIX3 | c.171C>T (p.Gly57=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942276G>A | CA346799016 | SIX3 | c.172G>A (p.Gly58Ser)
| |
2 | g.44942276G>C | CA346799017 | SIX3 | c.172G>C (p.Gly58Arg)
| |
2 | g.44942276G= | CA2494535058 | SIX3 | c.172G= (p.Gly58=)
| |
2 | g.44942276G>T | CA1642277 | SIX3 | c.172G>T (p.Gly58Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942278_44942283del | CA2658869523 | SIX3 | c.174_179del (p.Ala59_Gly60del)
| gnomAD v4 |
2 | g.44942277G>A | CA346799020 | SIX3 | c.173G>A (p.Gly58Asp)
| |
2 | g.44942277G>C | CA346799019 | SIX3 | c.173G>C (p.Gly58Ala)
| |
2 | g.44942277G>T | CA346799018 | SIX3 | c.173G>T (p.Gly58Val)
| |
2 | g.44942278T>A | CA426126384 | SIX3 | c.174T>A (p.Gly58=)
| |
2 | g.44942278T>C | CA426126385 | SIX3 | c.174T>C (p.Gly58=)
| gnomAD v4 |
2 | g.44942278T>G | CA426126387 | SIX3 | c.174T>G (p.Gly58=)
| dbSNP |
2 | g.44942279G>A | CA346799021 | SIX3 | c.175G>A (p.Ala59Thr)
| gnomAD v4 |
2 | g.44942279G>C | CA346799022 | SIX3 | c.175G>C (p.Ala59Pro)
| |
2 | g.44942279G>T | CA346799023 | SIX3 | c.175G>T (p.Ala59Ser)
| |
2 | g.44942280C>A | CA346799024 | SIX3 | c.176C>A (p.Ala59Asp)
| gnomAD v4 |
2 | g.44942280C>G | CA346799025 | SIX3 | c.176C>G (p.Ala59Gly)
| |
2 | g.44942280C>T | CA346799026 | SIX3 | c.176C>T (p.Ala59Val)
| gnomAD v4 |
2 | g.44942281T>A | CA426126389 | SIX3 | c.177T>A (p.Ala59=)
| |
2 | g.44942281T>C | CA426126391 | SIX3 | c.177T>C (p.Ala59=)
| |
2 | g.44942281T>G | CA426126393 | SIX3 | c.177T>G (p.Ala59=)
| |
2 | g.44942282G>A | CA346799029 | SIX3 | c.178G>A (p.Gly60Ser)
| gnomAD v4 |
2 | g.44942282G>C | CA346799027 | SIX3 | c.178G>C (p.Gly60Arg)
| |
2 | g.44942282G>T | CA346799028 | SIX3 | c.178G>T (p.Gly60Cys)
| |
2 | g.44942287_44942295del | CA2658869524 | SIX3 | c.183_191del (p.Ala62_Gly64del)
| gnomAD v4 |
2 | g.44942287_44942307del | CA2658869525 | SIX3 | c.183_203del (p.Ala62_Gly68del)
| gnomAD v4 |
2 | g.44942283G>A | CA346799030 | SIX3 | c.179G>A (p.Gly60Asp)
| gnomAD v4 |
2 | g.44942283G>C | CA346799031 | SIX3 | c.179G>C (p.Gly60Ala)
| |
2 | g.44942283G>T | CA346799032 | SIX3 | c.179G>T (p.Gly60Val)
| gnomAD v4 |
2 | g.44942284C>A | CA426126397 | SIX3 | c.180C>A (p.Gly60=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942284C= | CA2494535066 | SIX3 | c.180C= (p.Gly60=)
| |
2 | g.44942284C>G | CA1642278 | SIX3 | c.180C>G (p.Gly60=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942284C>T | CA10606287 | SIX3 | c.180C>T (p.Gly60=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942285G>A | CA1642279 | SIX3 | c.181G>A (p.Gly61Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942285G>C | CA346799034 | SIX3 | c.181G>C (p.Gly61Arg)
| |
2 | g.44942285G= | CA2494535069 | SIX3 | c.181G= (p.Gly61=)
| |
2 | g.44942285G>T | CA346799033 | SIX3 | c.181G>T (p.Gly61Ter)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942286G>A | CA346799035 | SIX3 | c.182G>A (p.Gly61Glu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942286G>C | CA346799036 | SIX3 | c.182G>C (p.Gly61Ala)
| |
2 | g.44942286G= | CA2494535071 | SIX3 | c.182G= (p.Gly61=)
| |
2 | g.44942286G>T | CA346799037 | SIX3 | c.182G>T (p.Gly61Val)
| |
2 | g.44942287A= | CA2494535073 | SIX3 | c.183A= (p.Gly61=)
| |
2 | g.44942287A>C | CA426126401 | SIX3 | c.183A>C (p.Gly61=)
| gnomAD v4 |
2 | g.44942287A>G | CA426126402 | SIX3 | c.183A>G (p.Gly61=)
| |
2 | g.44942287A>T | CA426126403 | SIX3 | c.183A>T (p.Gly61=)
| dbSNP |
2 | g.44942288G>A | CA346799038 | SIX3 | c.184G>A (p.Ala62Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942288G>C | CA346799039 | SIX3 | c.184G>C (p.Ala62Pro)
| |
2 | g.44942288G= | CA2494535075 | SIX3 | c.184G= (p.Ala62=)
| |
2 | g.44942288G>T | CA346799040 | SIX3 | c.184G>T (p.Ala62Ser)
| gnomAD v4 |
2 | g.44942289C>A | CA346799041 | SIX3 | c.185C>A (p.Ala62Glu)
| gnomAD v4 |
2 | g.44942289C>G | CA346799042 | SIX3 | c.185C>G (p.Ala62Gly)
| |
2 | g.44942289C>T | CA346799043 | SIX3 | c.185C>T (p.Ala62Val)
| gnomAD v4 |
2 | g.44942290del | CA2749734941 | SIX3 | c.186del (p.Gly63AlafsTer?)
| |
2 | g.44942290A>C | CA426126408 | SIX3 | c.186A>C (p.Ala62=)
| gnomAD v4 |
2 | g.44942290A>G | CA426126409 | SIX3 | c.186A>G (p.Ala62=)
| gnomAD v4 |
2 | g.44942290A>T | CA426126410 | SIX3 | c.186A>T (p.Ala62=)
| |
2 | g.44942290_44942299delinsAGGCGGCGGC | CA2494535077 | SIX3 | c.186_195delinsAGGCGGCGGC (p.Ala62=)
| |
2 | g.44942291G>A | CA346799045 | SIX3 | c.187G>A (p.Gly63Ser)
| |
2 | g.44942291G>C | CA346799046 | SIX3 | c.187G>C (p.Gly63Arg)
| |
2 | g.44942291G>T | CA346799044 | SIX3 | c.187G>T (p.Gly63Cys)
| |
2 | g.44942309_44942311dup | CA238818 | SIX3 | c.205_207dup (p.Gly69_Ser70insGly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942306_44942311dup | CA47011043 | SIX3 | c.202_207dup (p.Gly69_Ser70insGlyGly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942303_44942311dup | CA769177170 | SIX3 | c.199_207dup (p.Gly69_Ser70insGlyGlyGly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942300_44942311dup | CA1642282 | SIX3 | c.196_207dup (p.Gly69_Ser70insGlyGlyGlyGly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942309_44942311del | CA1642280 | SIX3 | c.205_207del (p.Gly69del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.44942306_44942311del | CA1030071104 | SIX3 | c.202_207del (p.Gly68_Gly69del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942303_44942311del | CA1642281 | SIX3 | c.199_207del (p.Gly67_Gly69del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942300_44942311del | CA2658869526 | SIX3 | c.196_207del (p.Gly66_Gly69del)
| gnomAD v4 |
2 | g.44942292G>A | CA346799048 | SIX3 | c.188G>A (p.Gly63Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942292G>C | CA346799047 | SIX3 | c.188G>C (p.Gly63Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942292G= | CA2494535089 | SIX3 | c.188G= (p.Gly63=)
| |
2 | g.44942292G>T | CA346799049 | SIX3 | c.188G>T (p.Gly63Val)
| gnomAD v4 |
2 | g.44942293_44942294del | CA2749734942 | SIX3 | c.189_190del (p.Gly64ArgfsTer?)
| |
2 | g.44942293C>A | CA426126415 | SIX3 | c.189C>A (p.Gly63=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942293C= | CA2494535092 | SIX3 | c.189C= (p.Gly63=)
| |
2 | g.44942293C>G | CA426126416 | SIX3 | c.189C>G (p.Gly63=)
| dbSNP |
2 | g.44942293C>T | CA426126417 | SIX3 | c.189C>T (p.Gly63=)
| gnomAD v4 |
2 | g.44942294G>A | CA346799052 | SIX3 | c.190G>A (p.Gly64Ser)
| |
2 | g.44942294G>C | CA346799050 | SIX3 | c.190G>C (p.Gly64Arg)
| |
2 | g.44942294G>T | CA346799051 | SIX3 | c.190G>T (p.Gly64Cys)
| |
2 | g.44942295G>A | CA1642283 | SIX3 | c.191G>A (p.Gly64Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942295G>C | CA346799053 | SIX3 | c.191G>C (p.Gly64Ala)
| |
2 | g.44942295G= | CA2494535097 | SIX3 | c.191G= (p.Gly64=)
| |
2 | g.44942295G>T | CA346799054 | SIX3 | c.191G>T (p.Gly64Val)
| gnomAD v4 |
2 | g.44942296C>A | CA1642284 | SIX3 | c.192C>A (p.Gly64=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942296C= | CA2494535099 | SIX3 | c.192C= (p.Gly64=)
| |
2 | g.44942296C>G | CA426126419 | SIX3 | c.192C>G (p.Gly64=)
| |
2 | g.44942296C>T | CA426126418 | SIX3 | c.192C>T (p.Gly64=)
| gnomAD v4 |
2 | g.44942297G>A | CA346799055 | SIX3 | c.193G>A (p.Gly65Ser)
| gnomAD v4 |
2 | g.44942297G>C | CA346799056 | SIX3 | c.193G>C (p.Gly65Arg)
| |
2 | g.44942297G>T | CA346799057 | SIX3 | c.193G>T (p.Gly65Cys)
| |
2 | g.44942298G>A | CA346799058 | SIX3 | c.194G>A (p.Gly65Asp)
| |
2 | g.44942298G>C | CA346799059 | SIX3 | c.194G>C (p.Gly65Ala)
| |
2 | g.44942298G>T | CA346799060 | SIX3 | c.194G>T (p.Gly65Val)
| |
2 | g.44942299del | CA2576956302 | SIX3 | c.195del (p.Gly66AlafsTer?)
| |
2 | g.44942299C>A | CA426126428 | SIX3 | c.195C>A (p.Gly65=)
| gnomAD v4 |
2 | g.44942299C= | CA2494535101 | SIX3 | c.195C= (p.Gly65=)
| |
2 | g.44942299C>G | CA426126425 | SIX3 | c.195C>G (p.Gly65=)
| |
2 | g.44942299C>T | CA426126427 | SIX3 | c.195C>T (p.Gly65=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942300G>A | CA1642285 | SIX3 | c.196G>A (p.Gly66Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942300G>C | CA346799062 | SIX3 | c.196G>C (p.Gly66Arg)
| gnomAD v4 |
2 | g.44942300G= | CA2494535103 | SIX3 | c.196G= (p.Gly66=)
| |
2 | g.44942300G>T | CA346799061 | SIX3 | c.196G>T (p.Gly66Cys)
| |
2 | g.44942301G>A | CA346799063 | SIX3 | c.197G>A (p.Gly66Asp)
| |
2 | g.44942301G>C | CA346799064 | SIX3 | c.197G>C (p.Gly66Ala)
| |
2 | g.44942301G>T | CA346799065 | SIX3 | c.197G>T (p.Gly66Val)
| |
2 | g.44942302_44942303insAGC | CA2576956303 | SIX3 | c.198_199insAGC (p.Gly66_Gly67insSer)
| |
2 | g.44942302C>A | CA426126436 | SIX3 | c.198C>A (p.Gly66=)
| gnomAD v4 |
2 | g.44942302C= | CA2494535106 | SIX3 | c.198C= (p.Gly66=)
| |
2 | g.44942302C>G | CA426126437 | SIX3 | c.198C>G (p.Gly66=)
| |
2 | g.44942302C>T | CA426126438 | SIX3 | c.198C>T (p.Gly66=)
| dbSNP gnomAD v4 |
2 | g.44942303G>A | CA346799066 | SIX3 | c.199G>A (p.Gly67Ser)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942303G>C | CA346799067 | SIX3 | c.199G>C (p.Gly67Arg)
| gnomAD v4 |
2 | g.44942303G= | CA2494535108 | SIX3 | c.199G= (p.Gly67=)
| |
2 | g.44942303G>T | CA346799068 | SIX3 | c.199G>T (p.Gly67Cys)
| gnomAD v4 |
2 | g.44942304del | CA2658869541 | SIX3 | c.200del (p.Gly67AlafsTer?)
| gnomAD v4 |
2 | g.44942304G>A | CA346799069 | SIX3 | c.200G>A (p.Gly67Asp)
| |
2 | g.44942304G>C | CA346799070 | SIX3 | c.200G>C (p.Gly67Ala)
| dbSNP |
2 | g.44942304G= | CA2494535109 | SIX3 | c.200G= (p.Gly67=)
| |
2 | g.44942304G>T | CA346799071 | SIX3 | c.200G>T (p.Gly67Val)
| |
2 | g.44942305_44942306del | CA2658869543 | SIX3 | c.201_202del (p.Gly68ArgfsTer29)
| gnomAD v4 |
2 | g.44942305C>A | CA426126439 | SIX3 | c.201C>A (p.Gly67=)
| gnomAD v4 |
2 | g.44942305C= | CA2494535111 | SIX3 | c.201C= (p.Gly67=)
| |
2 | g.44942305C>G | CA426126440 | SIX3 | c.201C>G (p.Gly67=)
| |
2 | g.44942305C>T | CA426126441 | SIX3 | c.201C>T (p.Gly67=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942306G>A | CA346799072 | SIX3 | c.202G>A (p.Gly68Ser)
| |
2 | g.44942306G>C | CA346799073 | SIX3 | c.202G>C (p.Gly68Arg)
| |
2 | g.44942306G= | CA2494535113 | SIX3 | c.202G= (p.Gly68=)
| |
2 | g.44942306G>T | CA346799074 | SIX3 | c.202G>T (p.Gly68Cys)
| dbSNP gnomAD v4 |
2 | g.44942306_44942307del | CA2658869545 | SIX3 | c.202_203del (p.Gly68ArgfsTer29)
| gnomAD v4 |
2 | g.44942307G>A | CA346799075 | SIX3 | c.203G>A (p.Gly68Asp)
| |
2 | g.44942307G>C | CA346799076 | SIX3 | c.203G>C (p.Gly68Ala)
| |
2 | g.44942307G>T | CA346799077 | SIX3 | c.203G>T (p.Gly68Val)
| |
2 | g.44942308C>A | CA426126446 | SIX3 | c.204C>A (p.Gly68=)
| |
2 | g.44942308C= | CA2494535115 | SIX3 | c.204C= (p.Gly68=)
| |
2 | g.44942308C>G | CA426126447 | SIX3 | c.204C>G (p.Gly68=)
| |
2 | g.44942308C>T | CA426126448 | SIX3 | c.204C>T (p.Gly68=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942309G>A | CA346799078 | SIX3 | c.205G>A (p.Gly69Ser)
| gnomAD v4 |
2 | g.44942309G>C | CA346799079 | SIX3 | c.205G>C (p.Gly69Arg)
| |
2 | g.44942309G>T | CA346799080 | SIX3 | c.205G>T (p.Gly69Cys)
| ClinVar |
2 | g.44942310G>A | CA253772 | SIX3 | c.206G>A (p.Gly69Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.[44942310G>A;44942510_44942511dup] | CA658682642 | SIX3 | c.[206G>A;406_407dup] (p.[Gly69Asp;Val137ProfsTer?])
| |
2 | g.44942310G>C | CA346799081 | SIX3 | c.206G>C (p.Gly69Ala)
| |
2 | g.44942310G= | CA2494535120 | SIX3 | c.206G= (p.Gly69=)
| |
2 | g.44942310G>T | CA346799082 | SIX3 | c.206G>T (p.Gly69Val)
| gnomAD v4 |
2 | g.44942311C>A | CA426126454 | SIX3 | c.207C>A (p.Gly69=)
| gnomAD v4 |
2 | g.44942311C= | CA2494535124 | SIX3 | c.207C= (p.Gly69=)
| |
2 | g.44942311C>G | CA426126455 | SIX3 | c.207C>G (p.Gly69=)
| |
2 | g.44942311C>T | CA426126456 | SIX3 | c.207C>T (p.Gly69=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.44942312T>A | CA346799083 | SIX3 | c.208T>A (p.Ser70Thr)
| |
2 | g.44942312T>C | CA346799084 | SIX3 | c.208T>C (p.Ser70Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.44942312T>G | CA346799085 | SIX3 | c.208T>G (p.Ser70Ala)
| |
2 | g.44942312T= | CA2494535126 | SIX3 | c.208T= (p.Ser70=)
| |
2 | g.44942313C>A | CA346799086 | SIX3 | c.209C>A (p.Ser70Tyr)
| gnomAD v4 |
2 | g.44942313C>G | CA346799087 | SIX3 | c.209C>G (p.Ser70Cys)
| ClinVar |
2 | g.44942313C>T | CA346799088 | SIX3 | c.209C>T (p.Ser70Phe)
| |
2 | g.44942314C>A | CA426126459 | SIX3 | c.210C>A (p.Ser70=)
| |
2 | g.44942314C>G | CA426126460 | SIX3 | c.210C>G (p.Ser70=)
| |
2 | g.44942314C>T | CA426126461 | SIX3 | c.210C>T (p.Ser70=)
| |
2 | g.44942315A>C | CA426126462 | SIX3 | c.211A>C (p.Arg71=)
| |
2 | g.44942315A>G | CA346799090 | SIX3 | c.211A>G (p.Arg71Gly)
| gnomAD v4 |
2 | g.44942315A>T | CA346799089 | SIX3 | c.211A>T (p.Arg71Trp)
| |
2 | g.44942316G>A | CA346799091 | SIX3 | c.212G>A (p.Arg71Lys)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942316G>C | CA346799092 | SIX3 | c.212G>C (p.Arg71Thr)
| |
2 | g.44942316G= | CA2494535132 | SIX3 | c.212G= (p.Arg71=)
| |
2 | g.44942316G>T | CA346799093 | SIX3 | c.212G>T (p.Arg71Met)
| |
2 | g.44942318del | CA2658869556 | SIX3 | c.214del (p.Ala72ProfsTer?)
| gnomAD v4 |
2 | g.44942317G>A | CA426126468 | SIX3 | c.213G>A (p.Arg71=)
| |
2 | g.44942317G>C | CA346799094 | SIX3 | c.213G>C (p.Arg71Ser)
| |
2 | g.44942317G= | CA2494535136 | SIX3 | c.213G= (p.Arg71=)
| |
2 | g.44942317G>T | CA346799095 | SIX3 | c.213G>T (p.Arg71Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942318G>A | CA346799096 | SIX3 | c.214G>A (p.Ala72Thr)
| gnomAD v4 |
2 | g.44942318G>C | CA346799097 | SIX3 | c.214G>C (p.Ala72Pro)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.44942318G= | CA2494535141 | SIX3 | c.214G= (p.Ala72=)
| |
2 | g.44942318G>T | CA1642288 | SIX3 | c.214G>T (p.Ala72Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.44942318_44942319delinsGC | CA2494535139 | SIX3 | c.214_215delinsGC (p.Ala72=)
| |
2 | g.44942319C>A | CA346799098 | SIX3 | c.215C>A (p.Ala72Asp)
| dbSNP gnomAD v4 |
2 | g.44942319C= | CA2494535146 | SIX3 | c.215C= (p.Ala72=)
| |
2 | g.44942319C>G | CA346799099 | SIX3 | c.215C>G (p.Ala72Gly)
| |
2 | g.44942319C>T | CA1642289 | SIX3 | c.215C>T (p.Ala72Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.44942325dup | CA1642286 | SIX3 | c.221dup (p.Glu75GlyfsTer23)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.44942324_44942325dup | CA2749734943 | SIX3 | c.220_221dup (p.Glu75ArgfsTer?)
| |
2 | g.44942325del | CA1642287 | SIX3 | c.221del (p.Pro74ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.44942323_44942325del | CA2580066542 | SIX3 | c.219_221del (p.Pro74del)
| ClinVar |