2 | g.219057627_219057640del | CA2499215674 | IHH | c.374_387del (p.Val125AspfsTer18)
| ClinVar dbSNP |
2 | g.219057624A>C | CA350635614 | IHH | c.386T>G (p.Val129Gly)
| |
2 | g.219057624A>G | CA350635617 | IHH | c.386T>C (p.Val129Ala)
| |
2 | g.219057624A>T | CA350635615 | IHH | c.386T>A (p.Val129Glu)
| |
2 | g.219057625C>A | CA350635619 | IHH | c.385G>T (p.Val129Leu)
| |
2 | g.219057625C= | CA1329041132 | IHH | c.385G= (p.Val129=)
| |
2 | g.219057625C>G | CA350635622 | IHH | c.385G>C (p.Val129Leu)
| |
2 | g.219057625C>T | CA350635624 | IHH | c.385G>A (p.Val129Met)
| dbSNP |
2 | g.219057626C>A | CA431262281 | IHH | c.384G>T (p.Arg128=)
| |
2 | g.219057626C= | CA1329041133 | IHH | c.384G= (p.Arg128=)
| |
2 | g.219057626C>G | CA431262282 | IHH | c.384G>C (p.Arg128=)
| |
2 | g.219057626C>T | CA431262284 | IHH | c.384G>A (p.Arg128=)
| dbSNP |
2 | g.219057627C>A | CA350635625 | IHH | c.383G>T (p.Arg128Leu)
| |
2 | g.219057627C= | CA1329041134 | IHH | c.383G= (p.Arg128=)
| |
2 | g.219057627C>G | CA350635626 | IHH | c.383G>C (p.Arg128Pro)
| |
2 | g.219057627C>T | CA119983 | IHH | c.383G>A (p.Arg128Gln)
| ClinVar dbSNP |
2 | g.219057628G>A | CA350635628 | IHH | c.382C>T (p.Arg128Trp)
| ClinVar |
2 | g.219057628G>C | CA350635630 | IHH | c.382C>G (p.Arg128Gly)
| |
2 | g.219057628G= | CA1329041136 | IHH | c.382C= (p.Arg128=)
| |
2 | g.219057628G>T | CA431262286 | IHH | c.382C>A (p.Arg128=)
| dbSNP gnomAD v4 |
2 | g.219057629C>A | CA431262287 | IHH | c.381G>T (p.Leu127=)
| |
2 | g.219057629C>G | CA431262288 | IHH | c.381G>C (p.Leu127=)
| |
2 | g.219057629C>T | CA431262290 | IHH | c.381G>A (p.Leu127=)
| |
2 | g.219057630A>C | CA350635632 | IHH | c.380T>G (p.Leu127Arg)
| |
2 | g.219057630A>G | CA350635634 | IHH | c.380T>C (p.Leu127Pro)
| |
2 | g.219057630A>T | CA350635637 | IHH | c.380T>A (p.Leu127Gln)
| |
2 | g.219057631G>A | CA431262294 | IHH | c.379C>T (p.Leu127=)
| |
2 | g.219057631G>C | CA350635641 | IHH | c.379C>G (p.Leu127Val)
| |
2 | g.219057631G>T | CA350635643 | IHH | c.379C>A (p.Leu127Met)
| |
2 | g.219057632C>A | CA350635645 | IHH | c.378G>T (p.Lys126Asn)
| |
2 | g.219057632C= | CA1329041137 | IHH | c.378G= (p.Lys126=)
| |
2 | g.219057632C>G | CA350635648 | IHH | c.378G>C (p.Lys126Asn)
| |
2 | g.219057632C>T | CA431262295 | IHH | c.378G>A (p.Lys126=)
| dbSNP |
2 | g.219057633T>A | CA350635650 | IHH | c.377A>T (p.Lys126Met)
| |
2 | g.219057633T>C | CA350635651 | IHH | c.377A>G (p.Lys126Arg)
| gnomAD v4 |
2 | g.219057633T>G | CA350635653 | IHH | c.377A>C (p.Lys126Thr)
| |
2 | g.219057634T>A | CA350635657 | IHH | c.376A>T (p.Lys126Ter)
| |
2 | g.219057634T>C | CA350635659 | IHH | c.376A>G (p.Lys126Glu)
| |
2 | g.219057634T>G | CA350635661 | IHH | c.376A>C (p.Lys126Gln)
| |
2 | g.219057635C>A | CA431262299 | IHH | c.375G>T (p.Val125=)
| |
2 | g.219057635C>G | CA431262303 | IHH | c.375G>C (p.Val125=)
| |
2 | g.219057635C>T | CA431262301 | IHH | c.375G>A (p.Val125=)
| |
2 | g.219057636A>C | CA350635666 | IHH | c.374T>G (p.Val125Gly)
| |
2 | g.219057636A>G | CA350635664 | IHH | c.374T>C (p.Val125Ala)
| |
2 | g.219057636A>T | CA350635663 | IHH | c.374T>A (p.Val125Glu)
| |
2 | g.219057637C>A | CA350635667 | IHH | c.373G>T (p.Val125Leu)
| |
2 | g.219057637C>G | CA350635669 | IHH | c.373G>C (p.Val125Leu)
| |
2 | g.219057637C>T | CA350635671 | IHH | c.373G>A (p.Val125Met)
| |
2 | g.219057638A>C | CA431262305 | IHH | c.372T>G (p.Gly124=)
| |
2 | g.219057638A>G | CA431262306 | IHH | c.372T>C (p.Gly124=)
| |
2 | g.219057638A>T | CA431262307 | IHH | c.372T>A (p.Gly124=)
| |
2 | g.219057639C>A | CA350635673 | IHH | c.371G>T (p.Gly124Val)
| |
2 | g.219057639C= | CA1329041139 | IHH | c.371G= (p.Gly124=)
| |
2 | g.219057639C>G | CA350635675 | IHH | c.371G>C (p.Gly124Ala)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219057639C>T | CA350635677 | IHH | c.371G>A (p.Gly124Asp)
| dbSNP COSMIC |
2 | g.219057640C>A | CA350635681 | IHH | c.370G>T (p.Gly124Cys)
| |
2 | g.219057640C= | CA1329041141 | IHH | c.370G= (p.Gly124=)
| |
2 | g.219057640C>G | CA350635682 | IHH | c.370G>C (p.Gly124Arg)
| |
2 | g.219057640C>T | CA65949344 | IHH | c.370G>A (p.Gly124Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219057641G>A | CA431262310 | IHH | c.369C>T (p.Pro123=)
| ClinVar dbSNP gnomAD v4 |
2 | g.219057641G>C | CA431262311 | IHH | c.369C>G (p.Pro123=)
| dbSNP |
2 | g.219057641G= | CA1329041144 | IHH | c.369C= (p.Pro123=)
| |
2 | g.219057641G>T | CA431262312 | IHH | c.369C>A (p.Pro123=)
| |
2 | g.219057642G>A | CA350635684 | IHH | c.368C>T (p.Pro123Leu)
| |
2 | g.219057642G>C | CA350635687 | IHH | c.368C>G (p.Pro123Arg)
| |
2 | g.219057642G>T | CA350635690 | IHH | c.368C>A (p.Pro123His)
| |
2 | g.219057643G>A | CA350635692 | IHH | c.367C>T (p.Pro123Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219057643G>C | CA350635694 | IHH | c.367C>G (p.Pro123Ala)
| |
2 | g.219057643G= | CA1329041146 | IHH | c.367C= (p.Pro123=)
| |
2 | g.219057643G>T | CA350635696 | IHH | c.367C>A (p.Pro123Thr)
| |
2 | g.219057644C>A | CA350635699 | IHH | c.366G>T (p.Trp122Cys)
| |
2 | g.219057644C= | CA1329041148 | IHH | c.366G= (p.Trp122=)
| |
2 | g.219057644C>G | CA350635701 | IHH | c.366G>C (p.Trp122Cys)
| dbSNP |
2 | g.219057644C>T | CA350635702 | IHH | c.366G>A (p.Trp122Ter)
| |
2 | g.219057645C>A | CA350635703 | IHH | c.365G>T (p.Trp122Leu)
| |
2 | g.219057645C>G | CA350635705 | IHH | c.365G>C (p.Trp122Ser)
| |
2 | g.219057645C>T | CA350635707 | IHH | c.365G>A (p.Trp122Ter)
| |
2 | g.219057646A>C | CA350635712 | IHH | c.364T>G (p.Trp122Gly)
| |
2 | g.219057646A>G | CA350635709 | IHH | c.364T>C (p.Trp122Arg)
| |
2 | g.219057646A>T | CA350635711 | IHH | c.364T>A (p.Trp122Arg)
| |
2 | g.219057647C>A | CA350635714 | IHH | c.363G>T (p.Gln121His)
| |
2 | g.219057647C= | CA1329041150 | IHH | c.363G= (p.Gln121=)
| |
2 | g.219057647C>G | CA350635716 | IHH | c.363G>C (p.Gln121His)
| dbSNP gnomAD v4 |
2 | g.219057647C>T | CA431262319 | IHH | c.363G>A (p.Gln121=)
| |
2 | g.219057648T>A | CA350635719 | IHH | c.362A>T (p.Gln121Leu)
| |
2 | g.219057648T>C | CA350635721 | IHH | c.362A>G (p.Gln121Arg)
| |
2 | g.219057648T>G | CA350635722 | IHH | c.362A>C (p.Gln121Pro)
| |
2 | g.219057649G>A | CA350635724 | IHH | c.361C>T (p.Gln121Ter)
| |
2 | g.219057649G>C | CA350635726 | IHH | c.361C>G (p.Gln121Glu)
| |
2 | g.219057649G>T | CA350635727 | IHH | c.361C>A (p.Gln121Lys)
| |
2 | g.219057650G>A | CA431262324 | IHH | c.360C>T (p.Asn120=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219057650G>C | CA350635730 | IHH | c.360C>G (p.Asn120Lys)
| |
2 | g.219057650G= | CA1329041151 | IHH | c.360C= (p.Asn120=)
| |
2 | g.219057650G>T | CA350635733 | IHH | c.360C>A (p.Asn120Lys)
| gnomAD v4 |
2 | g.219057651T>A | CA350635734 | IHH | c.359A>T (p.Asn120Ile)
| |
2 | g.219057651T>C | CA350635736 | IHH | c.359A>G (p.Asn120Ser)
| |
2 | g.219057651T>G | CA350635737 | IHH | c.359A>C (p.Asn120Thr)
| |
2 | g.219057652T>A | CA350635744 | IHH | c.358A>T (p.Asn120Tyr)
| gnomAD v4 |
2 | g.219057652T>C | CA350635742 | IHH | c.358A>G (p.Asn120Asp)
| |
2 | g.219057652T>G | CA350635740 | IHH | c.358A>C (p.Asn120His)
| |
2 | g.219057653C>A | CA350635747 | IHH | c.357G>T (p.Met119Ile)
| gnomAD v4 |
2 | g.219057653C>G | CA350635749 | IHH | c.357G>C (p.Met119Ile)
| gnomAD v4 |
2 | g.219057653C>T | CA350635751 | IHH | c.357G>A (p.Met119Ile)
| |
2 | g.219057654A>C | CA350635753 | IHH | c.356T>G (p.Met119Arg)
| |
2 | g.219057654A>G | CA350635755 | IHH | c.356T>C (p.Met119Thr)
| |
2 | g.219057654A>T | CA350635757 | IHH | c.356T>A (p.Met119Lys)
| |
2 | g.219057655T>A | CA350635760 | IHH | c.355A>T (p.Met119Leu)
| |
2 | g.219057655T>C | CA350635761 | IHH | c.355A>G (p.Met119Val)
| |
2 | g.219057655T>G | CA350635763 | IHH | c.355A>C (p.Met119Leu)
| |
2 | g.219057656C>A | CA2116704 | IHH | c.354G>T (p.Val118=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219057656C= | CA1329041153 | IHH | c.354G= (p.Val118=)
| |
2 | g.219057656C>G | CA431262329 | IHH | c.354G>C (p.Val118=)
| |
2 | g.219057656C>T | CA431262330 | IHH | c.354G>A (p.Val118=)
| |
2 | g.219057657A>C | CA350635767 | IHH | c.353T>G (p.Val118Gly)
| |
2 | g.219057657A>G | CA350635769 | IHH | c.353T>C (p.Val118Ala)
| |
2 | g.219057657A>T | CA350635770 | IHH | c.353T>A (p.Val118Glu)
| |
2 | g.219057658C>A | CA350635775 | IHH | c.352G>T (p.Val118Leu)
| COSMIC |
2 | g.219057658C= | CA1329041155 | IHH | c.352G= (p.Val118=)
| |
2 | g.219057658C>G | CA350635776 | IHH | c.352G>C (p.Val118Leu)
| |
2 | g.219057658C>T | CA350635773 | IHH | c.352G>A (p.Val118Met)
| ClinVar dbSNP gnomAD v2 |
2 | g.219057659C>A | CA431262332 | IHH | c.351G>T (p.Ser117=)
| ClinVar dbSNP gnomAD v4 |
2 | g.219057659C= | CA1329041157 | IHH | c.351G= (p.Ser117=)
| |
2 | g.219057659C>G | CA431262333 | IHH | c.351G>C (p.Ser117=)
| |
2 | g.219057659C>T | CA431262334 | IHH | c.351G>A (p.Ser117=)
| |
2 | g.219057660G>A | CA350635779 | IHH | c.350C>T (p.Ser117Leu)
| gnomAD v4 |
2 | g.219057660G>C | CA350635784 | IHH | c.350C>G (p.Ser117Trp)
| |
2 | g.219057660G>T | CA350635782 | IHH | c.350C>A (p.Ser117Ter)
| gnomAD v4 |
2 | g.219057661A>C | CA350635787 | IHH | c.349T>G (p.Ser117Ala)
| |
2 | g.219057661A>G | CA350635788 | IHH | c.349T>C (p.Ser117Pro)
| |
2 | g.219057661A>T | CA350635789 | IHH | c.349T>A (p.Ser117Thr)
| gnomAD v4 |
2 | g.219057662G>A | CA431262336 | IHH | c.348C>T (p.Ile116=)
| |
2 | g.219057662G>C | CA350635792 | IHH | c.348C>G (p.Ile116Met)
| |
2 | g.219057662G>T | CA431262337 | IHH | c.348C>A (p.Ile116=)
| |
2 | g.219057663A>C | CA350635794 | IHH | c.347T>G (p.Ile116Ser)
| |
2 | g.219057663A>G | CA350635797 | IHH | c.347T>C (p.Ile116Thr)
| |
2 | g.219057663A>T | CA350635803 | IHH | c.347T>A (p.Ile116Asn)
| gnomAD v4 |
2 | g.219057664T>A | CA350635805 | IHH | c.346A>T (p.Ile116Phe)
| |
2 | g.219057664T>C | CA350635807 | IHH | c.346A>G (p.Ile116Val)
| dbSNP |
2 | g.219057664T>G | CA350635810 | IHH | c.346A>C (p.Ile116Leu)
| gnomAD v4 |
2 | g.219057664T= | CA1329041159 | IHH | c.346A= (p.Ile116=)
| |
2 | g.219057665A= | CA1329041160 | IHH | c.345T= (p.Ala115=)
| |
2 | g.219057665A>C | CA431262340 | IHH | c.345T>G (p.Ala115=)
| |
2 | g.219057665A>G | CA431262342 | IHH | c.345T>C (p.Ala115=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219057665A>T | CA431262341 | IHH | c.345T>A (p.Ala115=)
| |
2 | g.219057666G>A | CA350635823 | IHH | c.344C>T (p.Ala115Val)
| |
2 | g.219057666G>C | CA350635817 | IHH | c.344C>G (p.Ala115Gly)
| |
2 | g.219057666G>T | CA350635813 | IHH | c.344C>A (p.Ala115Asp)
| gnomAD v4 |
2 | g.219057667C>A | CA350635825 | IHH | c.343G>T (p.Ala115Ser)
| |
2 | g.219057667C= | CA1329041162 | IHH | c.343G= (p.Ala115=)
| |
2 | g.219057667C>G | CA350635827 | IHH | c.343G>C (p.Ala115Pro)
| |
2 | g.219057667C>T | CA350635828 | IHH | c.343G>A (p.Ala115Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219057668C>A | CA431262344 | IHH | c.342G>T (p.Leu114=)
| COSMIC |
2 | g.219057668C>G | CA431262346 | IHH | c.342G>C (p.Leu114=)
| |
2 | g.219057668C>T | CA431262348 | IHH | c.342G>A (p.Leu114=)
| |
2 | g.219057669A>C | CA350635832 | IHH | c.341T>G (p.Leu114Arg)
| |
2 | g.219057669A>G | CA350635833 | IHH | c.341T>C (p.Leu114Pro)
| |
2 | g.219057669A>T | CA350635835 | IHH | c.341T>A (p.Leu114Gln)
| |
2 | g.219057670G>A | CA2116705 | IHH | c.340C>T (p.Leu114=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219057670G>C | CA350635839 | IHH | c.340C>G (p.Leu114Val)
| |
2 | g.219057670G= | CA1329041164 | IHH | c.340C= (p.Leu114=)
| |
2 | g.219057670G>T | CA350635841 | IHH | c.340C>A (p.Leu114Met)
| gnomAD v4 |
2 | g.219057671C>A | CA431262349 | IHH | c.339G>T (p.Ser113=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219057671C= | CA1329041166 | IHH | c.339G= (p.Ser113=)
| |
2 | g.219057671C>G | CA431262350 | IHH | c.339G>C (p.Ser113=)
| |
2 | g.219057671C>T | CA65949359 | IHH | c.339G>A (p.Ser113=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219057672G>A | CA350635842 | IHH | c.338C>T (p.Ser113Leu)
| dbSNP gnomAD v4 |
2 | g.219057672G>C | CA350635844 | IHH | c.338C>G (p.Ser113Trp)
| |
2 | g.219057672G= | CA1329041168 | IHH | c.338C= (p.Ser113=)
| |
2 | g.219057672G>T | CA350635846 | IHH | c.338C>A (p.Ser113Ter)
| |
2 | g.219057673A>C | CA350635849 | IHH | c.337T>G (p.Ser113Ala)
| |
2 | g.219057673A>G | CA350635850 | IHH | c.337T>C (p.Ser113Pro)
| |
2 | g.219057673A>T | CA350635848 | IHH | c.337T>A (p.Ser113Thr)
| |
2 | g.219057674G>A | CA431262352 | IHH | c.336C>T (p.Asn112=)
| dbSNP gnomAD v4 |
2 | g.219057674G>C | CA350635852 | IHH | c.336C>G (p.Asn112Lys)
| |
2 | g.219057674G= | CA1329041169 | IHH | c.336C= (p.Asn112=)
| |
2 | g.219057674G>T | CA350635854 | IHH | c.336C>A (p.Asn112Lys)
| |
2 | g.219057675T>A | CA350635856 | IHH | c.335A>T (p.Asn112Ile)
| |
2 | g.219057675T>C | CA350635858 | IHH | c.335A>G (p.Asn112Ser)
| |
2 | g.219057675T>G | CA350635861 | IHH | c.335A>C (p.Asn112Thr)
| gnomAD v4 |
2 | g.219057676T>A | CA350635862 | IHH | c.334A>T (p.Asn112Tyr)
| |
2 | g.219057676T>C | CA350635866 | IHH | c.334A>G (p.Asn112Asp)
| |
2 | g.219057676T>G | CA350635867 | IHH | c.334A>C (p.Asn112His)
| |
2 | g.219057677C>A | CA431262354 | IHH | c.333G>T (p.Leu111=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219057677C= | CA1329041171 | IHH | c.333G= (p.Leu111=)
| |
2 | g.219057677C>G | CA431262357 | IHH | c.333G>C (p.Leu111=)
| |
2 | g.219057677C>T | CA431262355 | IHH | c.333G>A (p.Leu111=)
| gnomAD v4 |
2 | g.219057678A>C | CA350635869 | IHH | c.332T>G (p.Leu111Arg)
| |
2 | g.219057678A>G | CA350635871 | IHH | c.332T>C (p.Leu111Pro)
| ClinVar dbSNP |
2 | g.219057678A>T | CA350635872 | IHH | c.332T>A (p.Leu111Gln)
| |
2 | g.219057679G>A | CA431262358 | IHH | c.331C>T (p.Leu111=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219057679G>C | CA350635874 | IHH | c.331C>G (p.Leu111Val)
| gnomAD v4 |
2 | g.219057679G= | CA1329041173 | IHH | c.331C= (p.Leu111=)
| |
2 | g.219057679G>T | CA350635875 | IHH | c.331C>A (p.Leu111Met)
| gnomAD v4 |
2 | g.219057680G>A | CA431262359 | IHH | c.330C>T (p.Arg110=)
| |
2 | g.219057680G>C | CA431262360 | IHH | c.330C>G (p.Arg110=)
| |
2 | g.219057680G>T | CA431262361 | IHH | c.330C>A (p.Arg110=)
| |
2 | g.219057681C>A | CA350635879 | IHH | c.329G>T (p.Arg110Leu)
| |
2 | g.219057681C= | CA1329041175 | IHH | c.329G= (p.Arg110=)
| |
2 | g.219057681C>G | CA350635878 | IHH | c.329G>C (p.Arg110Pro)
| |
2 | g.219057681C>T | CA350635876 | IHH | c.329G>A (p.Arg110His)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219057682G>A | CA65949362 | IHH | c.328C>T (p.Arg110Cys)
| dbSNP |
2 | g.219057682G>C | CA2116706 | IHH | c.328C>G (p.Arg110Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219057682G= | CA1329041177 | IHH | c.328C= (p.Arg110=)
| |
2 | g.219057682G>T | CA2116707 | IHH | c.328C>A (p.Arg110Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219057683del | CA2577248523 | IHH | c.328del (p.Arg110AlafsTer2)
| |
2 | g.219057683G>A | CA431262368 | IHH | c.327C>T (p.Asp109=)
| |
2 | g.219057683G>C | CA350635883 | IHH | c.327C>G (p.Asp109Glu)
| gnomAD v4 |
2 | g.219057683G>T | CA350635886 | IHH | c.327C>A (p.Asp109Glu)
| |
2 | g.219057684T>A | CA350635888 | IHH | c.326A>T (p.Asp109Val)
| |
2 | g.219057684T>C | CA350635890 | IHH | c.326A>G (p.Asp109Gly)
| |
2 | g.219057684T>G | CA350635891 | IHH | c.326A>C (p.Asp109Ala)
| |
2 | g.219057685C>A | CA350635893 | IHH | c.325G>T (p.Asp109Tyr)
| gnomAD v4 |
2 | g.219057685C>G | CA350635894 | IHH | c.325G>C (p.Asp109His)
| gnomAD v4 |
2 | g.219057685C>T | CA350635895 | IHH | c.325G>A (p.Asp109Asn)
| |
2 | g.219057686C>A | CA350635896 | IHH | c.324G>T (p.Lys108Asn)
| |
2 | g.219057686C>G | CA350635897 | IHH | c.324G>C (p.Lys108Asn)
| |
2 | g.219057686C>T | CA431262371 | IHH | c.324G>A (p.Lys108=)
| |
2 | g.219057687T>A | CA350635900 | IHH | c.323A>T (p.Lys108Met)
| |
2 | g.219057687T>C | CA350635902 | IHH | c.323A>G (p.Lys108Arg)
| |
2 | g.219057687T>G | CA350635898 | IHH | c.323A>C (p.Lys108Thr)
| |
2 | g.219057688T>A | CA350635905 | IHH | c.322A>T (p.Lys108Ter)
| |
2 | g.219057688T>C | CA350635903 | IHH | c.322A>G (p.Lys108Glu)
| |
2 | g.219057688T>G | CA350635906 | IHH | c.322A>C (p.Lys108Gln)
| |
2 | g.219057689G>A | CA431262374 | IHH | c.321C>T (p.Cys107=)
| |
2 | g.219057689G>C | CA350635908 | IHH | c.321C>G (p.Cys107Trp)
| |
2 | g.219057689G>T | CA350635910 | IHH | c.321C>A (p.Cys107Ter)
| |
2 | g.219057690C>A | CA350635911 | IHH | c.320G>T (p.Cys107Phe)
| |
2 | g.219057690C= | CA1329041180 | IHH | c.320G= (p.Cys107=)
| |
2 | g.219057690C>G | CA350635914 | IHH | c.320G>C (p.Cys107Ser)
| dbSNP |
2 | g.219057690C>T | CA350635912 | IHH | c.320G>A (p.Cys107Tyr)
| |
2 | g.219057691del | CA2586971359 | IHH | c.319del (p.Cys107AlafsTer5)
| |
2 | g.219057691A>C | CA350635916 | IHH | c.319T>G (p.Cys107Gly)
| |
2 | g.219057691A>G | CA350635917 | IHH | c.319T>C (p.Cys107Arg)
| |
2 | g.219057691A>T | CA350635919 | IHH | c.319T>A (p.Cys107Ser)
| |
2 | g.219057692G>A | CA431262377 | IHH | c.318C>T (p.Arg106=)
| |
2 | g.219057692G>C | CA431262379 | IHH | c.318C>G (p.Arg106=)
| |
2 | g.219057692G>T | CA431262381 | IHH | c.318C>A (p.Arg106=)
| |
2 | g.219057693C>A | CA65949372 | IHH | c.317G>T (p.Arg106Leu)
| dbSNP |
2 | g.219057693C= | CA1329041182 | IHH | c.317G= (p.Arg106=)
| |
2 | g.219057693C>G | CA350635922 | IHH | c.317G>C (p.Arg106Pro)
| dbSNP |
2 | g.219057693C>T | CA350635925 | IHH | c.317G>A (p.Arg106His)
| gnomAD v4 |
2 | g.219057694G>A | CA350635928 | IHH | c.316C>T (p.Arg106Cys)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219057694G>C | CA350635930 | IHH | c.316C>G (p.Arg106Gly)
| gnomAD v4 |
2 | g.219057694G= | CA1329041185 | IHH | c.316C= (p.Arg106=)
| |
2 | g.219057694G>T | CA65949385 | IHH | c.316C>A (p.Arg106Ser)
| ClinVar dbSNP gnomAD v4 |
2 | g.219057695C>A | CA350635933 | IHH | c.316-1G>T (n.316-1G>T)
| |
2 | g.219057695C>G | CA350635934 | IHH | c.316-1G>C (n.316-1G>C)
| |
2 | g.219057695C>T | CA350635937 | IHH | c.316-1G>A (n.316-1G>A)
| ClinVar dbSNP gnomAD v4 |
2 | g.219057696T>A | CA350635942 | IHH | c.316-2A>T (n.316-2A>T)
| |
2 | g.219057696T>C | CA350635939 | IHH | c.316-2A>G (n.316-2A>G)
| |
2 | g.219057696T>G | CA350635941 | IHH | c.316-2A>C (n.316-2A>C)
| |
2 | g.219057697G>A | CA2663194524 | IHH | c.316-3C>T (n.316-3C>T)
| gnomAD v4 |
2 | g.219057697_219057698insCAGGGCGGGGGGCACAGTCAGTAAAGGGCTTTGGGGTGGGGGTTCTGCCTAAGTC | CA2540271898 | IHH | c.316-4_316-3insGACTTAGGCAGAACCCCCACCCCAAAGCCCTTTACTGACTGTGCCCCCCGCCCTG (n.316-4_316-3insGACTTAGGCAGAACCCCCACCCCAAAGCCCTTTACTGACTGTGCCCCCCGCCCTG)
| |
2 | g.219057698G>A | CA2663194525 | IHH | c.316-4C>T (n.316-4C>T)
| gnomAD v4 |
2 | g.219057698G>T | CA2663194526 | IHH | c.316-4C>A (n.316-4C>A)
| gnomAD v4 |
2 | g.219057699G>A | CA2663194527 | IHH | c.316-5C>T (n.316-5C>T)
| gnomAD v4 |
2 | g.219057700A= | CA1329041187 | IHH | c.316-6T= (n.316-6T=)
| |
2 | g.219057700A>T | CA539621212 | IHH | c.316-6T>A (n.316-6T>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219057701G>A | CA2663194528 | IHH | c.316-7C>T (n.316-7C>T)
| gnomAD v4 |
2 | g.219057702A= | CA1329041189 | IHH | c.316-8T= (n.316-8T=)
| |
2 | g.219057702A>G | CA539621213 | IHH | c.316-8T>C (n.316-8T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219057703G>C | CA2663194529 | IHH | c.316-9C>G (n.316-9C>G)
| gnomAD v4 |
2 | g.219057704G>C | CA2116708 | IHH | c.316-10C>G (n.316-10C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219057704G= | CA1329041190 | IHH | c.316-10C= (n.316-10C=)
| |
2 | g.219057705_219057708del | CA2663194530 | IHH | c.316-13_316-10del (n.316-13_316-10del)
| gnomAD v4 |
2 | g.219057705A= | CA1329041192 | IHH | c.316-11T= (n.316-11T=)
| |
2 | g.219057705A>C | CA65949393 | IHH | c.316-11T>G (n.316-11T>G)
| dbSNP gnomAD v4 |
2 | g.219057707T>G | CA1329041195 | IHH | c.316-13A>C (n.316-13A>C)
| dbSNP |
2 | g.219057707T= | CA1329041194 | IHH | c.316-13A= (n.316-13A=)
| |
2 | g.219057708G>A | CA2577248524 | IHH | c.316-14C>T (n.316-14C>T)
| gnomAD v4 |
2 | g.219057709T>G | CA539621214 | IHH | c.316-15A>C (n.316-15A>C)
| dbSNP gnomAD v2 |
2 | g.219057709T= | CA1329041196 | IHH | c.316-15A= (n.316-15A=)
| |
2 | g.219057711C>A | CA2577248525 | IHH | c.316-17G>T (n.316-17G>T)
| gnomAD v4 |
2 | g.219057711C>T | CA2663194531 | IHH | c.316-17G>A (n.316-17G>A)
| gnomAD v4 |
2 | g.219057712G>A | CA2116709 | IHH | c.316-18C>T (n.316-18C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219057712G= | CA1329041198 | IHH | c.316-18C= (n.316-18C=)
| |
2 | g.219057713C= | CA1329041200 | IHH | c.316-19G= (n.316-19G=)
| |
2 | g.219057713C>T | CA2116710 | IHH | c.316-19G>A (n.316-19G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219057714del | CA2663194532 | IHH | c.316-20del (n.316-20del)
| gnomAD v4 |
2 | g.219057714G>A | CA1329041202 | IHH | c.316-20C>T (n.316-20C>T)
| dbSNP gnomAD v4 |
2 | g.219057714G= | CA1329041201 | IHH | c.316-20C= (n.316-20C=)
| |
2 | g.219057714G>T | CA2663194533 | IHH | c.316-20C>A (n.316-20C>A)
| gnomAD v4 |
2 | g.219057719C= | CA1329041204 | IHH | c.316-25G= (n.316-25G=)
| |
2 | g.219057721dup | CA1329041205 | IHH | c.316-26dup (n.316-26dup)
| dbSNP |
2 | g.219057721A= | CA1329041206 | IHH | c.316-27T= (n.316-27T=)
| |
2 | g.219057721A>G | CA1329041207 | IHH | c.316-27T>C (n.316-27T>C)
| dbSNP gnomAD v4 |
2 | g.219057722C>A | CA2663194534 | IHH | c.316-28G>T (n.316-28G>T)
| gnomAD v4 |
2 | g.219057722C>T | CA2577248526 | IHH | c.316-28G>A (n.316-28G>A)
| gnomAD v4 |
2 | g.219057723C>A | CA2663194535 | IHH | c.316-29G>T (n.316-29G>T)
| gnomAD v4 |
2 | g.219057723C= | CA1329041209 | IHH | c.316-29G= (n.316-29G=)
| |
2 | g.219057723C>T | CA539621215 | IHH | c.316-29G>A (n.316-29G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219057724del | CA2663194536 | IHH | c.316-30del (n.316-30del)
| gnomAD v4 |
2 | g.219057724A>C | CA2663194537 | IHH | c.316-30T>G (n.316-30T>G)
| gnomAD v4 |