2 | g.219060389_219060415delinsCCCATGCCGCCGGCACCACCAGCAGCA | CA1329042679 | IHH | c.53_79delinsTGCTGCTGGTGGTGCCGGCGGCATGGG (p.Leu18=)
| |
2 | g.219060390_219060415delinsGGCCC | CA915941730 | IHH | c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)
| ClinVar dbSNP |
2 | g.219060407_219060409del | CA1329042685 | IHH | c.64_66del (p.Val22del)
| dbSNP |
2 | g.219060407C>A | CA350637647 | IHH | c.61G>T (p.Val21Leu)
| gnomAD v4 |
2 | g.219060407C= | CA1329042686 | IHH | c.61G= (p.Val21=)
| |
2 | g.219060407C>G | CA350637649 | IHH | c.61G>C (p.Val21Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060407C>T | CA350637650 | IHH | c.61G>A (p.Val21Met)
| gnomAD v4 |
2 | g.219060408C>A | CA431419678 | IHH | c.60G>T (p.Leu20=)
| gnomAD v4 |
2 | g.219060408C= | CA1329042687 | IHH | c.60G= (p.Leu20=)
| |
2 | g.219060408C>G | CA431419679 | IHH | c.60G>C (p.Leu20=)
| |
2 | g.219060408C>T | CA431419680 | IHH | c.60G>A (p.Leu20=)
| dbSNP gnomAD v2 |
2 | g.219060416_219060418del | CA2663195157 | IHH | c.58_60del (p.Leu20del)
| gnomAD v4 |
2 | g.219060409A>C | CA350637652 | IHH | c.59T>G (p.Leu20Arg)
| |
2 | g.219060409A>G | CA350637653 | IHH | c.59T>C (p.Leu20Pro)
| gnomAD v4 |
2 | g.219060409A>T | CA350637654 | IHH | c.59T>A (p.Leu20Gln)
| |
2 | g.219060410G>A | CA431419685 | IHH | c.58C>T (p.Leu20=)
| gnomAD v4 |
2 | g.219060410G>C | CA350637656 | IHH | c.58C>G (p.Leu20Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.219060410G= | CA1329042688 | IHH | c.58C= (p.Leu20=)
| |
2 | g.219060410G>T | CA350637658 | IHH | c.58C>A (p.Leu20Met)
| |
2 | g.219060411C>A | CA431419688 | IHH | c.57G>T (p.Leu19=)
| |
2 | g.219060411C>G | CA431419690 | IHH | c.57G>C (p.Leu19=)
| |
2 | g.219060411C>T | CA431419691 | IHH | c.57G>A (p.Leu19=)
| |
2 | g.219060412A>C | CA350637663 | IHH | c.56T>G (p.Leu19Arg)
| |
2 | g.219060412A>G | CA350637661 | IHH | c.56T>C (p.Leu19Pro)
| |
2 | g.219060412A>T | CA350637659 | IHH | c.56T>A (p.Leu19Gln)
| |
2 | g.219060413G>A | CA431419693 | IHH | c.55C>T (p.Leu19=)
| dbSNP gnomAD v4 |
2 | g.219060413G>C | CA350637665 | IHH | c.55C>G (p.Leu19Val)
| |
2 | g.219060413G= | CA1329042689 | IHH | c.55C= (p.Leu19=)
| |
2 | g.219060413G>T | CA350637666 | IHH | c.55C>A (p.Leu19Met)
| |
2 | g.219060414C>A | CA431419696 | IHH | c.54G>T (p.Leu18=)
| gnomAD v4 |
2 | g.219060414C>G | CA431419695 | IHH | c.54G>C (p.Leu18=)
| |
2 | g.219060414C>T | CA431419694 | IHH | c.54G>A (p.Leu18=)
| gnomAD v4 |
2 | g.219060415A>C | CA350637668 | IHH | c.53T>G (p.Leu18Arg)
| |
2 | g.219060415A>G | CA350637669 | IHH | c.53T>C (p.Leu18Pro)
| |
2 | g.219060415A>T | CA350637671 | IHH | c.53T>A (p.Leu18Gln)
| |
2 | g.219060416G>A | CA431419697 | IHH | c.52C>T (p.Leu18=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060416G>C | CA350637672 | IHH | c.52C>G (p.Leu18Val)
| |
2 | g.219060416G= | CA1329042690 | IHH | c.52C= (p.Leu18=)
| |
2 | g.219060416G>T | CA350637674 | IHH | c.52C>A (p.Leu18Met)
| gnomAD v4 |
2 | g.219060417C>A | CA350637676 | IHH | c.51G>T (p.Leu17Phe)
| gnomAD v4 |
2 | g.219060417C>G | CA350637678 | IHH | c.51G>C (p.Leu17Phe)
| gnomAD v4 |
2 | g.219060417C>T | CA431419699 | IHH | c.51G>A (p.Leu17=)
| |
2 | g.219060419_219060421del | CA2663195165 | IHH | c.49_51del (p.Leu17del)
| gnomAD v4 |
2 | g.219060418A>C | CA350637679 | IHH | c.50T>G (p.Leu17Trp)
| |
2 | g.219060418A>G | CA350637681 | IHH | c.50T>C (p.Leu17Ser)
| |
2 | g.219060418A>T | CA350637682 | IHH | c.50T>A (p.Leu17Ter)
| gnomAD v4 |
2 | g.219060419A>C | CA350637684 | IHH | c.49T>G (p.Leu17Val)
| |
2 | g.219060419A>G | CA431419703 | IHH | c.49T>C (p.Leu17=)
| |
2 | g.219060419A>T | CA350637686 | IHH | c.49T>A (p.Leu17Met)
| |
2 | g.219060419_219060425delinsACAGGAC | CA1329042691 | IHH | c.43_49delinsGTCCTGT (p.Val15=)
| |
2 | g.219060420C>A | CA431419704 | IHH | c.48G>T (p.Leu16=)
| |
2 | g.219060420C= | CA1329042692 | IHH | c.48G= (p.Leu16=)
| |
2 | g.219060420C>G | CA431419705 | IHH | c.48G>C (p.Leu16=)
| |
2 | g.219060420C>T | CA431419706 | IHH | c.48G>A (p.Leu16=)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060424_219060429del | CA539841237 | IHH | c.43_48del (p.Val15_Leu16del)
| dbSNP gnomAD v2 |
2 | g.219060421A>C | CA350637687 | IHH | c.47T>G (p.Leu16Arg)
| |
2 | g.219060421A>G | CA350637689 | IHH | c.47T>C (p.Leu16Pro)
| gnomAD v4 |
2 | g.219060421A>T | CA350637688 | IHH | c.47T>A (p.Leu16Gln)
| |
2 | g.219060422G>A | CA431419708 | IHH | c.46C>T (p.Leu16=)
| |
2 | g.219060422G>C | CA350637691 | IHH | c.46C>G (p.Leu16Val)
| |
2 | g.219060422G>T | CA350637693 | IHH | c.46C>A (p.Leu16Met)
| |
2 | g.219060423G>A | CA2116778 | IHH | c.45C>T (p.Val15=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060423G>C | CA431419712 | IHH | c.45C>G (p.Val15=)
| |
2 | g.219060423G= | CA1329042693 | IHH | c.45C= (p.Val15=)
| |
2 | g.219060423G>T | CA431419714 | IHH | c.45C>A (p.Val15=)
| gnomAD v4 |
2 | g.219060423_219060425del | CA2562730340 | IHH | c.43_45del (p.Val15del)
| |
2 | g.219060424A>C | CA350637695 | IHH | c.44T>G (p.Val15Gly)
| |
2 | g.219060424A>G | CA350637696 | IHH | c.44T>C (p.Val15Ala)
| gnomAD v4 |
2 | g.219060424A>T | CA350637698 | IHH | c.44T>A (p.Val15Asp)
| |
2 | g.219060425C>A | CA350637700 | IHH | c.43G>T (p.Val15Phe)
| |
2 | g.219060425C>G | CA350637702 | IHH | c.43G>C (p.Val15Leu)
| dbSNP gnomAD v4 |
2 | g.219060425C>T | CA350637703 | IHH | c.43G>A (p.Val15Ile)
| |
2 | g.219060426C>A | CA431419720 | IHH | c.42G>T (p.Leu14=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060426C= | CA1329042694 | IHH | c.42G= (p.Leu14=)
| |
2 | g.219060426C>G | CA431419721 | IHH | c.42G>C (p.Leu14=)
| |
2 | g.219060426C>T | CA431419722 | IHH | c.42G>A (p.Leu14=)
| gnomAD v4 |
2 | g.219060427A>C | CA350637705 | IHH | c.41T>G (p.Leu14Arg)
| |
2 | g.219060427A>G | CA350637706 | IHH | c.41T>C (p.Leu14Pro)
| |
2 | g.219060427A>T | CA350637708 | IHH | c.41T>A (p.Leu14Gln)
| |
2 | g.219060428G>A | CA431419726 | IHH | c.40C>T (p.Leu14=)
| |
2 | g.219060428G>C | CA350637710 | IHH | c.40C>G (p.Leu14Val)
| dbSNP gnomAD v4 |
2 | g.219060428G= | CA1329042695 | IHH | c.40C= (p.Leu14=)
| |
2 | g.219060428G>T | CA350637712 | IHH | c.40C>A (p.Leu14Met)
| gnomAD v4 |
2 | g.219060429G>A | CA431419729 | IHH | c.39C>T (p.Cys13=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060429G>C | CA350637714 | IHH | c.39C>G (p.Cys13Trp)
| |
2 | g.219060429G= | CA1329042696 | IHH | c.39C= (p.Cys13=)
| |
2 | g.219060429G>T | CA350637716 | IHH | c.39C>A (p.Cys13Ter)
| gnomAD v4 |
2 | g.219060430C>A | CA350637718 | IHH | c.38G>T (p.Cys13Phe)
| |
2 | g.219060430C>G | CA350637721 | IHH | c.38G>C (p.Cys13Ser)
| |
2 | g.219060430C>T | CA350637720 | IHH | c.38G>A (p.Cys13Tyr)
| |
2 | g.219060431A= | CA1329042697 | IHH | c.37T= (p.Cys13=)
| |
2 | g.219060431A>C | CA350637723 | IHH | c.37T>G (p.Cys13Gly)
| |
2 | g.219060431A>G | CA2116779 | IHH | c.37T>C (p.Cys13Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060431A>T | CA350637725 | IHH | c.37T>A (p.Cys13Ser)
| |
2 | g.219060432G>A | CA431419736 | IHH | c.36C>T (p.Phe12=)
| gnomAD v4 |
2 | g.219060432G>C | CA350637728 | IHH | c.36C>G (p.Phe12Leu)
| |
2 | g.219060432G>T | CA350637730 | IHH | c.36C>A (p.Phe12Leu)
| gnomAD v4 |
2 | g.219060433A>C | CA350637732 | IHH | c.35T>G (p.Phe12Cys)
| |
2 | g.219060433A>G | CA350637733 | IHH | c.35T>C (p.Phe12Ser)
| |
2 | g.219060433A>T | CA350637734 | IHH | c.35T>A (p.Phe12Tyr)
| |
2 | g.219060434A>C | CA350637736 | IHH | c.34T>G (p.Phe12Val)
| |
2 | g.219060434A>G | CA350637737 | IHH | c.34T>C (p.Phe12Leu)
| |
2 | g.219060434A>T | CA350637739 | IHH | c.34T>A (p.Phe12Ile)
| |
2 | g.219060435G>A | CA431419741 | IHH | c.33C>T (p.His11=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060435G>C | CA350637740 | IHH | c.33C>G (p.His11Gln)
| |
2 | g.219060435G= | CA1329042698 | IHH | c.33C= (p.His11=)
| |
2 | g.219060435G>T | CA350637742 | IHH | c.33C>A (p.His11Gln)
| |
2 | g.219060436T>A | CA350637747 | IHH | c.32A>T (p.His11Leu)
| |
2 | g.219060436T>C | CA350637745 | IHH | c.32A>G (p.His11Arg)
| |
2 | g.219060436T>G | CA350637743 | IHH | c.32A>C (p.His11Pro)
| |
2 | g.219060437G>A | CA350637748 | IHH | c.31C>T (p.His11Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060437G>C | CA350637750 | IHH | c.31C>G (p.His11Asp)
| |
2 | g.219060437G= | CA1329042699 | IHH | c.31C= (p.His11=)
| |
2 | g.219060437G>T | CA2116780 | IHH | c.31C>A (p.His11Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060438C>A | CA431419753 | IHH | c.30G>T (p.Leu10=)
| gnomAD v4 |
2 | g.219060438C>G | CA431419751 | IHH | c.30G>C (p.Leu10=)
| |
2 | g.219060438C>T | CA431419749 | IHH | c.30G>A (p.Leu10=)
| gnomAD v4 |
2 | g.219060439A>C | CA350637753 | IHH | c.29T>G (p.Leu10Arg)
| |
2 | g.219060439A>G | CA350637754 | IHH | c.29T>C (p.Leu10Pro)
| gnomAD v4 |
2 | g.219060439A>T | CA350637756 | IHH | c.29T>A (p.Leu10Gln)
| |
2 | g.219060440G>A | CA431419756 | IHH | c.28C>T (p.Leu10=)
| |
2 | g.219060440G>C | CA350637757 | IHH | c.28C>G (p.Leu10Val)
| |
2 | g.219060440G= | CA1329042700 | IHH | c.28C= (p.Leu10=)
| |
2 | g.219060440G>T | CA350637758 | IHH | c.28C>A (p.Leu10Met)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060441T>A | CA431419759 | IHH | c.27A>T (p.Arg9=)
| |
2 | g.219060441T>C | CA2116781 | IHH | c.27A>G (p.Arg9=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060441T>G | CA431419767 | IHH | c.27A>C (p.Arg9=)
| dbSNP gnomAD v4 |
2 | g.219060441T= | CA1329042701 | IHH | c.27A= (p.Arg9=)
| |
2 | g.219060442C>A | CA350637760 | IHH | c.26G>T (p.Arg9Leu)
| gnomAD v4 |
2 | g.219060442C= | CA1329042702 | IHH | c.26G= (p.Arg9=)
| |
2 | g.219060442C>G | CA350637762 | IHH | c.26G>C (p.Arg9Pro)
| gnomAD v4 |
2 | g.219060442C>T | CA2116782 | IHH | c.26G>A (p.Arg9Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060445_219060450dup | CA539841238 | IHH | c.21_26dup (p.Arg9_Leu10insProArg)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060443G>A | CA350637765 | IHH | c.25C>T (p.Arg9Ter)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060443G>C | CA65951429 | IHH | c.25C>G (p.Arg9Gly)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060443G= | CA1329042703 | IHH | c.25C= (p.Arg9=)
| |
2 | g.219060443G>T | CA431419779 | IHH | c.25C>A (p.Arg9=)
| ClinVar dbSNP gnomAD v4 |
2 | g.219060446del | CA2663195191 | IHH | c.25del (p.Arg9AspfsTer?)
| gnomAD v4 |
2 | g.219060444G>A | CA431419782 | IHH | c.24C>T (p.Pro8=)
| ClinVar gnomAD v4 |
2 | g.219060444G>C | CA431419783 | IHH | c.24C>G (p.Pro8=)
| |
2 | g.219060444G>T | CA431419785 | IHH | c.24C>A (p.Pro8=)
| gnomAD v4 |
2 | g.219060445G>A | CA350637767 | IHH | c.23C>T (p.Pro8Leu)
| gnomAD v4 |
2 | g.219060445G>C | CA350637769 | IHH | c.23C>G (p.Pro8Arg)
| |
2 | g.219060445G= | CA1329042704 | IHH | c.23C= (p.Pro8=)
| |
2 | g.219060445G>T | CA350637770 | IHH | c.23C>A (p.Pro8His)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060446G>A | CA350637773 | IHH | c.22C>T (p.Pro8Ser)
| gnomAD v4 |
2 | g.219060446G>C | CA350637774 | IHH | c.22C>G (p.Pro8Ala)
| gnomAD v4 |
2 | g.219060446G= | CA1329042705 | IHH | c.22C= (p.Pro8=)
| |
2 | g.219060446G>T | CA350637776 | IHH | c.22C>A (p.Pro8Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060447C>A | CA431419794 | IHH | c.21G>T (p.Arg7=)
| gnomAD v4 |
2 | g.219060447C>G | CA431419796 | IHH | c.21G>C (p.Arg7=)
| |
2 | g.219060447C>T | CA431419797 | IHH | c.21G>A (p.Arg7=)
| gnomAD v4 |
2 | g.219060448C>A | CA350637778 | IHH | c.20G>T (p.Arg7Leu)
| |
2 | g.219060448C= | CA1329042706 | IHH | c.20G= (p.Arg7=)
| |
2 | g.219060448C>G | CA350637780 | IHH | c.20G>C (p.Arg7Pro)
| dbSNP |
2 | g.219060448C>T | CA2116783 | IHH | c.20G>A (p.Arg7Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060449G>A | CA350637782 | IHH | c.19C>T (p.Arg7Trp)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219060449G>C | CA350637783 | IHH | c.19C>G (p.Arg7Gly)
| gnomAD v4 |
2 | g.219060449G= | CA1329042707 | IHH | c.19C= (p.Arg7=)
| |
2 | g.219060449G>T | CA431419805 | IHH | c.19C>A (p.Arg7=)
| gnomAD v4 |
2 | g.219060450G>A | CA65951438 | IHH | c.18C>T (p.Leu6=)
| dbSNP gnomAD v4 |
2 | g.219060450G>C | CA431419806 | IHH | c.18C>G (p.Leu6=)
| gnomAD v4 |
2 | g.219060450G= | CA1329042708 | IHH | c.18C= (p.Leu6=)
| |
2 | g.219060450G>T | CA2116784 | IHH | c.18C>A (p.Leu6=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060451A>C | CA350637788 | IHH | c.17T>G (p.Leu6Arg)
| gnomAD v4 |
2 | g.219060451A>G | CA350637789 | IHH | c.17T>C (p.Leu6Pro)
| gnomAD v4 |
2 | g.219060451A>T | CA350637786 | IHH | c.17T>A (p.Leu6His)
| |
2 | g.219060452G>A | CA350637791 | IHH | c.16C>T (p.Leu6Phe)
| gnomAD v4 |
2 | g.219060452G>C | CA350637792 | IHH | c.16C>G (p.Leu6Val)
| |
2 | g.219060452G>T | CA350637794 | IHH | c.16C>A (p.Leu6Ile)
| gnomAD v4 |
2 | g.219060453C>A | CA431419818 | IHH | c.15G>T (p.Arg5=)
| gnomAD v4 |
2 | g.219060453C= | CA1329042709 | IHH | c.15G= (p.Arg5=)
| |
2 | g.219060453C>G | CA431419819 | IHH | c.15G>C (p.Arg5=)
| dbSNP gnomAD v4 |
2 | g.219060453C>T | CA431419820 | IHH | c.15G>A (p.Arg5=)
| gnomAD v4 |
2 | g.219060454C>A | CA350637796 | IHH | c.14G>T (p.Arg5Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060454C= | CA1329042710 | IHH | c.14G= (p.Arg5=)
| |
2 | g.219060454C>G | CA350637797 | IHH | c.14G>C (p.Arg5Pro)
| gnomAD v4 |
2 | g.219060454C>T | CA350637799 | IHH | c.14G>A (p.Arg5Gln)
| |
2 | g.219060455G>A | CA350637800 | IHH | c.13C>T (p.Arg5Trp)
| gnomAD v4 |
2 | g.219060455G>C | CA350637801 | IHH | c.13C>G (p.Arg5Gly)
| |
2 | g.219060455G>T | CA431419825 | IHH | c.13C>A (p.Arg5=)
| gnomAD v4 |
2 | g.219060456G>A | CA431419828 | IHH | c.12C>T (p.Ala4=)
| |
2 | g.219060456G>C | CA431419830 | IHH | c.12C>G (p.Ala4=)
| |
2 | g.219060456G>T | CA431419827 | IHH | c.12C>A (p.Ala4=)
| gnomAD v4 |
2 | g.219060457G>A | CA350637802 | IHH | c.11C>T (p.Ala4Val)
| |
2 | g.219060457G>C | CA350637803 | IHH | c.11C>G (p.Ala4Gly)
| |
2 | g.219060457G= | CA1329042711 | IHH | c.11C= (p.Ala4=)
| |
2 | g.219060457G>T | CA350637805 | IHH | c.11C>A (p.Ala4Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060458_219060468del | CA2663195214 | IHH | c.1_11del (p.Met1ProfsTer?)
| gnomAD v4 |
2 | g.219060458C>A | CA350637807 | IHH | c.10G>T (p.Ala4Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060458C= | CA1329042712 | IHH | c.10G= (p.Ala4=)
| |
2 | g.219060458C>G | CA350637809 | IHH | c.10G>C (p.Ala4Pro)
| |
2 | g.219060458C>T | CA350637810 | IHH | c.10G>A (p.Ala4Thr)
| gnomAD v4 |
2 | g.219060459G>A | CA2116785 | IHH | c.9C>T (p.Pro3=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060459G>C | CA431419835 | IHH | c.9C>G (p.Pro3=)
| |
2 | g.219060459G= | CA1329042713 | IHH | c.9C= (p.Pro3=)
| |
2 | g.219060459G>T | CA431419836 | IHH | c.9C>A (p.Pro3=)
| gnomAD v4 |
2 | g.219060460G>A | CA350637814 | IHH | c.8C>T (p.Pro3Leu)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060460G>C | CA350637818 | IHH | c.8C>G (p.Pro3Arg)
| |
2 | g.219060460G= | CA1329042714 | IHH | c.8C= (p.Pro3=)
| |
2 | g.219060460G>T | CA350637816 | IHH | c.8C>A (p.Pro3His)
| gnomAD v4 |
2 | g.219060461_219060463dup | CA2116786 | IHH | c.6_8dup (p.Pro3_Ala4insPro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219060461G>A | CA350637820 | IHH | c.7C>T (p.Pro3Ser)
| gnomAD v4 |
2 | g.219060461G>C | CA350637822 | IHH | c.7C>G (p.Pro3Ala)
| |
2 | g.219060461G>T | CA350637823 | IHH | c.7C>A (p.Pro3Thr)
| gnomAD v4 |
2 | g.219060462A>C | CA431419853 | IHH | c.6T>G (p.Ser2=)
| |
2 | g.219060462A>G | CA431419852 | IHH | c.6T>C (p.Ser2=)
| gnomAD v4 |
2 | g.219060462A>T | CA431419851 | IHH | c.6T>A (p.Ser2=)
| |
2 | g.219060463G>A | CA350637825 | IHH | c.5C>T (p.Ser2Phe)
| gnomAD v4 |
2 | g.219060463G>C | CA350637827 | IHH | c.5C>G (p.Ser2Cys)
| gnomAD v4 |
2 | g.219060463G>T | CA350637829 | IHH | c.5C>A (p.Ser2Tyr)
| gnomAD v4 |
2 | g.219060463_219060465del | CA2663195237 | IHH | c.3_5del (p.Met1_Ser2delinsIle)
| gnomAD v4 |
2 | g.219060464A>C | CA350637831 | IHH | c.4T>G (p.Ser2Ala)
| |
2 | g.219060464A>G | CA350637833 | IHH | c.4T>C (p.Ser2Pro)
| gnomAD v4 |
2 | g.219060464A>T | CA350637834 | IHH | c.4T>A (p.Ser2Thr)
| |
2 | g.219060465C>A | CA350637836 | IHH | c.3G>T (p.Met1Ile)
| |
2 | g.219060465C>G | CA350637838 | IHH | c.3G>C (p.Met1Ile)
| |
2 | g.219060465C>T | CA350637839 | IHH | c.3G>A (p.Met1Ile)
| |
2 | g.219060465_219060467delinsCAT | CA1329042715 | IHH | c.1_3delinsATG (p.Met1=)
| |
2 | g.219060466A= | CA1329042716 | IHH | c.2T= (p.Met1=)
| |
2 | g.219060466A>C | CA350637845 | IHH | c.2T>G (p.Met1Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060466A>G | CA350637841 | IHH | c.2T>C (p.Met1Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060466A>T | CA350637843 | IHH | c.2T>A (p.Met1Lys)
| ClinVar dbSNP |
2 | g.219060466_219060467del | CA764946515 | IHH | c.1_2del (p.Met1ValfsTer?)
| dbSNP |
2 | g.219060467T>A | CA350637847 | IHH | c.1A>T (p.Met1Leu)
| |
2 | g.219060467T>C | CA350637848 | IHH | c.1A>G (p.Met1Val)
| ClinVar gnomAD v4 |
2 | g.219060467T>G | CA350637850 | IHH | c.1A>C (p.Met1Leu)
| |
2 | g.219060468G>T | CA2663195241 | IHH | c.-1C>A (n.-1C>A)
| gnomAD v4 |
2 | g.219060469G>A | CA539841241 | IHH | c.-2C>T (n.-2C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060469G>C | CA2663195242 | IHH | c.-2C>G (n.-2C>G)
| gnomAD v4 |
2 | g.219060469G= | CA1329042717 | IHH | c.-2C= (n.-2C=)
| |
2 | g.219060469G>T | CA2663195243 | IHH | c.-2C>A (n.-2C>A)
| gnomAD v4 |
2 | g.219060470C>A | CA2663195245 | IHH | c.-3G>T (n.-3G>T)
| gnomAD v4 |
2 | g.219060470C>T | CA2663195246 | IHH | c.-3G>A (n.-3G>A)
| gnomAD v4 |
2 | g.219060476_219060484dup | CA2663195244 | IHH | c.-11_-3dup (n.-11_-3dup)
| gnomAD v4 |
2 | g.219060471C>A | CA2663195248 | IHH | c.-4G>T (n.-4G>T)
| gnomAD v4 |
2 | g.219060471_219060472del | CA2663195247 | IHH | c.-5_-4del (n.-5_-4del)
| gnomAD v4 |
2 | g.219060471_219060472delinsCG | CA1329042718 | IHH | c.-5_-4delinsCG (n.-5_-4delinsCG)
| |
2 | g.219060472G>A | CA1329042719 | IHH | c.-5C>T (n.-5C>T)
| dbSNP gnomAD v4 |
2 | g.219060472G>C | CA2577248566 | IHH | c.-5C>G (n.-5C>G)
| gnomAD v4 |
2 | g.219060472G= | CA1329042720 | IHH | c.-5C= (n.-5C=)
| |
2 | g.219060472G>T | CA2663195249 | IHH | c.-5C>A (n.-5C>A)
| gnomAD v4 |
2 | g.219060475dup | CA539841242 | IHH | c.-5dup (n.-5dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060475del | CA2116787 | IHH | c.-5del (n.-5del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060473G>A | CA2663195254 | IHH | c.-6C>T (n.-6C>T)
| gnomAD v4 |
2 | g.219060473G>C | CA2116788 | IHH | c.-6C>G (n.-6C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060473G= | CA1329042721 | IHH | c.-6C= (n.-6C=)
| |
2 | g.219060473G>T | CA2663195255 | IHH | c.-6C>A (n.-6C>A)
| gnomAD v4 |
2 | g.219060474G>A | CA2663195256 | IHH | c.-7C>T (n.-7C>T)
| gnomAD v4 |
2 | g.219060474G>T | CA2663195257 | IHH | c.-7C>A (n.-7C>A)
| gnomAD v4 |
2 | g.219060475G>A | CA764946533 | IHH | c.-8C>T (n.-8C>T)
| dbSNP gnomAD v4 |
2 | g.219060475G= | CA1329042722 | IHH | c.-8C= (n.-8C=)
| |
2 | g.219060475G>T | CA2663195259 | IHH | c.-8C>A (n.-8C>A)
| gnomAD v4 |
2 | g.219060476A>G | CA2663195260 | IHH | c.-9T>C (n.-9T>C)
| gnomAD v4 |
2 | g.219060477G>A | CA2663195261 | IHH | c.-10C>T (n.-10C>T)
| gnomAD v4 |
2 | g.219060477G= | CA1329042723 | IHH | c.-10C= (n.-10C=)
| |
2 | g.219060477G>T | CA2663195262 | IHH | c.-10C>A (n.-10C>A)
| gnomAD v4 |
2 | g.219060478C>A | CA539841244 | IHH | c.-11G>T (n.-11G>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060478C= | CA1329042724 | IHH | c.-11G= (n.-11G=)
| |
2 | g.219060478C>T | CA2663195264 | IHH | c.-11G>A (n.-11G>A)
| gnomAD v4 |
2 | g.219060480dup | CA764946545 | IHH | c.-11dup (n.-11dup)
| dbSNP |
2 | g.219060480del | CA2663195265 | IHH | c.-11del (n.-11del)
| gnomAD v4 |
2 | g.219060479C>A | CA2663195267 | IHH | c.-12G>T (n.-12G>T)
| gnomAD v4 |
2 | g.219060480C>A | CA1329042725 | IHH | c.-13G>T (n.-13G>T)
| dbSNP gnomAD v4 |
2 | g.219060480C= | CA1329042726 | IHH | c.-13G= (n.-13G=)
| |
2 | g.219060480C>T | CA1042494135 | IHH | c.-13G>A (n.-13G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060480_219060481delinsCG | CA1329042727 | IHH | c.-14_-13delinsCG (n.-14_-13delinsCG)
| |
2 | g.219060481G>A | CA10614228 | IHH | c.-14C>T (n.-14C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060481G>C | CA2514422020 | IHH | c.-14C>G (n.-14C>G)
| gnomAD v4 |
2 | g.219060481G= | CA1329042728 | IHH | c.-14C= (n.-14C=)
| |
2 | g.219060481G>T | CA2663195280 | IHH | c.-14C>A (n.-14C>A)
| gnomAD v4 |
2 | g.219060481_219060485del | CA2663195284 | IHH | c.-18_-14del (n.-18_-14del)
| gnomAD v4 |
2 | g.219060485dup | CA2663195287 | IHH | c.-14dup (n.-14dup)
| gnomAD v4 |
2 | g.219060485del | CA539841245 | IHH | c.-14del (n.-14del)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060482G>A | CA2663195288 | IHH | c.-15C>T (n.-15C>T)
| gnomAD v4 |
2 | g.219060482G>T | CA2663195289 | IHH | c.-15C>A (n.-15C>A)
| gnomAD v4 |
2 | g.219060483G>A | CA764946563 | IHH | c.-16C>T (n.-16C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060483G>C | CA2663195290 | IHH | c.-16C>G (n.-16C>G)
| gnomAD v4 |
2 | g.219060483G= | CA1329042729 | IHH | c.-16C= (n.-16C=)
| |
2 | g.219060483G>T | CA2663195291 | IHH | c.-16C>A (n.-16C>A)
| gnomAD v4 |
2 | g.219060484G>A | CA764946564 | IHH | c.-17C>T (n.-17C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060484G= | CA1329042730 | IHH | c.-17C= (n.-17C=)
| |
2 | g.219060485G>A | CA10614229 | IHH | c.-18C>T (n.-18C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060485G>C | CA2663195294 | IHH | c.-18C>G (n.-18C>G)
| gnomAD v4 |
2 | g.219060485G= | CA1329042731 | IHH | c.-18C= (n.-18C=)
| |
2 | g.219060485G>T | CA2663195293 | IHH | c.-18C>A (n.-18C>A)
| gnomAD v4 |
2 | g.219060486A>G | CA2663195295 | IHH | c.-19T>C (n.-19T>C)
| gnomAD v4 |
2 | g.219060487G>A | CA2663195296 | IHH | c.-20C>T (n.-20C>T)
| gnomAD v4 |
2 | g.219060487G>T | CA2663195297 | IHH | c.-20C>A (n.-20C>A)
| gnomAD v4 |
2 | g.219060488C>A | CA2577248567 | IHH | c.-21G>T (n.-21G>T)
| gnomAD v4 |
2 | g.219060488C= | CA1329042732 | IHH | c.-21G= (n.-21G=)
| |
2 | g.219060488C>G | CA2663195299 | IHH | c.-21G>C (n.-21G>C)
| gnomAD v4 |
2 | g.219060488C>T | CA1329042733 | IHH | c.-21G>A (n.-21G>A)
| dbSNP gnomAD v4 |
2 | g.219060489G>A | CA2663195301 | IHH | c.-22C>T (n.-22C>T)
| gnomAD v4 |
2 | g.219060489G>C | CA1329042735 | IHH | c.-22C>G (n.-22C>G)
| dbSNP |
2 | g.219060489G= | CA1329042734 | IHH | c.-22C= (n.-22C=)
| |
2 | g.219060489G>T | CA2663195302 | IHH | c.-22C>A (n.-22C>A)
| gnomAD v4 |
2 | g.219060490G>A | CA2663195303 | IHH | c.-23C>T (n.-23C>T)
| gnomAD v4 |
2 | g.219060490G>T | CA2663195304 | IHH | c.-23C>A (n.-23C>A)
| gnomAD v4 |
2 | g.219060491C>A | CA2663195307 | IHH | c.-24G>T (n.-24G>T)
| gnomAD v4 |
2 | g.219060491C= | CA1329042736 | IHH | c.-24G= (n.-24G=)
| |
2 | g.219060491C>G | CA2577248568 | IHH | c.-24G>C (n.-24G>C)
| |
2 | g.219060491C>T | CA65951445 | IHH | c.-24G>A (n.-24G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060492G>A | CA1329042738 | IHH | c.-25C>T (n.-25C>T)
| dbSNP gnomAD v4 |
2 | g.219060492G= | CA1329042737 | IHH | c.-25C= (n.-25C=)
| |
2 | g.219060492G>T | CA2663195309 | IHH | c.-25C>A (n.-25C>A)
| gnomAD v4 |
2 | g.219060494del | CA2663195311 | IHH | c.-25del (n.-25del)
| gnomAD v4 |
2 | g.219060493G>A | CA2663195316 | IHH | c.-26C>T (n.-26C>T)
| gnomAD v4 |
2 | g.219060493G>T | CA2663195315 | IHH | c.-26C>A (n.-26C>A)
| gnomAD v4 |
2 | g.219060494G>A | CA2663195319 | IHH | c.-27C>T (n.-27C>T)
| gnomAD v4 |
2 | g.219060494G>C | CA2663195318 | IHH | c.-27C>G (n.-27C>G)
| gnomAD v4 |
2 | g.219060494G= | CA1329042739 | IHH | c.-27C= (n.-27C=)
| |
2 | g.219060494G>T | CA539841248 | IHH | c.-27C>A (n.-27C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219060495C>A | CA2116789 | IHH | c.-28G>T (n.-28G>T)
| dbSNP ExAC gnomAD v4 |
2 | g.219060495C= | CA1329042740 | IHH | c.-28G= (n.-28G=)
| |
2 | g.219060495C>G | CA2663195320 | IHH | c.-28G>C (n.-28G>C)
| gnomAD v4 |
2 | g.219060495C>T | CA539841249 | IHH | c.-28G>A (n.-28G>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060496G>A | CA2663195321 | IHH | c.-29C>T (n.-29C>T)
| gnomAD v4 |
2 | g.219060496G>T | CA2663195322 | IHH | c.-29C>A (n.-29C>A)
| gnomAD v4 |
2 | g.219060497A>G | CA2663195323 | IHH | c.-30T>C (n.-30T>C)
| gnomAD v4 |
2 | g.219060497_219060505del | CA1042494147 | IHH | c.-38_-30del (n.-38_-30del)
| gnomAD v3 gnomAD v4 |
2 | g.219060498G>A | CA539841250 | IHH | c.-31C>T (n.-31C>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060498G>C | CA764946575 | IHH | c.-31C>G (n.-31C>G)
| dbSNP gnomAD v4 |
2 | g.219060498G= | CA1329042741 | IHH | c.-31C= (n.-31C=)
| |
2 | g.219060498G>T | CA2663195324 | IHH | c.-31C>A (n.-31C>A)
| gnomAD v4 |
2 | g.219060501_219060508del | CA2754315657 | IHH | c.-38_-31del (n.-38_-31del)
| |
2 | g.219060499G= | CA1329042742 | IHH | c.-32C= (n.-32C=)
| |
2 | g.219060499G>T | CA539841251 | IHH | c.-32C>A (n.-32C>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060500T>A | CA2526988162 | IHH | c.-33A>T (n.-33A>T)
| |
2 | g.219060500T>C | CA764946585 | IHH | c.-33A>G (n.-33A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.219060500T>G | CA1042494156 | IHH | c.-33A>C (n.-33A>C)
| gnomAD v3 gnomAD v4 |
2 | g.219060500T= | CA1329042744 | IHH | c.-33A= (n.-33A=)
| |
2 | g.219060500_219060503delinsTCTC | CA1329042743 | IHH | c.-36_-33delinsGAGA (n.-36_-33delinsGAGA)
| |
2 | g.219060501C>A | CA764946618 | IHH | c.-34G>T (n.-34G>T)
| dbSNP gnomAD v4 |
2 | g.219060501C= | CA1329042745 | IHH | c.-34G= (n.-34G=)
| |
2 | g.219060503_219060505del | CA539841252 | IHH | c.-36_-34del (n.-36_-34del)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.219060502T>G | CA2562730341 | IHH | c.-35A>C (n.-35A>C)
| |
2 | g.219060503C>G | CA2663195327 | IHH | c.-36G>C (n.-36G>C)
| gnomAD v4 |
2 | g.219060503C>T | CA2577248569 | IHH | c.-36G>A (n.-36G>A)
| |
2 | g.219060505T>C | CA2663195328 | IHH | c.-38A>G (n.-38A>G)
| gnomAD v4 |
2 | g.219060506G>T | CA2663195329 | IHH | c.-39C>A (n.-39C>A)
| gnomAD v4 |
2 | g.219060507G>C | CA1042494157 | IHH | c.-40C>G (n.-40C>G)
| gnomAD v3 gnomAD v4 |
2 | g.219060507G>T | CA2663195330 | IHH | c.-40C>A (n.-40C>A)
| gnomAD v4 |