| 3 | g.172448324C>A | CA436965688 | GHSR | c.90G>T (p.Leu30=)
| gnomAD v4 |
| 3 | g.172448324C= | CA1420511888 | GHSR | c.90G= (p.Leu30=)
| |
| 3 | g.172448324C>G | CA436965689 | GHSR | c.90G>C (p.Leu30=)
| |
| 3 | g.172448324C>T | CA436965690 | GHSR | c.90G>A (p.Leu30=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448325A>C | CA355516714 | GHSR | c.89T>G (p.Leu30Arg)
| |
| 3 | g.172448325A>G | CA355516715 | GHSR | c.89T>C (p.Leu30Pro)
| |
| 3 | g.172448325A>T | CA355516716 | GHSR | c.89T>A (p.Leu30Gln)
| |
| 3 | g.172448326G>A | CA436965691 | GHSR | c.88C>T (p.Leu30=)
| |
| 3 | g.172448326G>C | CA355516717 | GHSR | c.88C>G (p.Leu30Val)
| |
| 3 | g.172448326G>T | CA355516718 | GHSR | c.88C>A (p.Leu30Met)
| |
| 3 | g.172448327C>A | CA2706540 | GHSR | c.87G>T (p.Ser29=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448327C= | CA1420511889 | GHSR | c.87G= (p.Ser29=)
| |
| 3 | g.172448327C>G | CA436965693 | GHSR | c.87G>C (p.Ser29=)
| gnomAD v4 |
| 3 | g.172448327C>T | CA436965692 | GHSR | c.87G>A (p.Ser29=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448328G>A | CA87786367 | GHSR | c.86C>T (p.Ser29Leu)
| dbSNP |
| 3 | g.172448328G>C | CA355516719 | GHSR | c.86C>G (p.Ser29Trp)
| gnomAD v4 |
| 3 | g.172448328G= | CA1420511890 | GHSR | c.86C= (p.Ser29=)
| |
| 3 | g.172448328G>T | CA355516720 | GHSR | c.86C>A (p.Ser29Ter)
| COSMIC COSMIC |
| 3 | g.172448329A>C | CA355516721 | GHSR | c.85T>G (p.Ser29Ala)
| |
| 3 | g.172448329A>G | CA355516722 | GHSR | c.85T>C (p.Ser29Pro)
| |
| 3 | g.172448329A>T | CA355516723 | GHSR | c.85T>A (p.Ser29Thr)
| |
| 3 | g.172448330G>A | CA2706541 | GHSR | c.84C>T (p.Asp28=)
| ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.172448330G>C | CA355516725 | GHSR | c.84C>G (p.Asp28Glu)
| |
| 3 | g.172448330G= | CA1420511891 | GHSR | c.84C= (p.Asp28=)
| |
| 3 | g.172448330G>T | CA355516724 | GHSR | c.84C>A (p.Asp28Glu)
| |
| 3 | g.172448331T>A | CA355516726 | GHSR | c.83A>T (p.Asp28Val)
| |
| 3 | g.172448331T>C | CA355516727 | GHSR | c.83A>G (p.Asp28Gly)
| dbSNP gnomAD v4 |
| 3 | g.172448331T>G | CA355516728 | GHSR | c.83A>C (p.Asp28Ala)
| |
| 3 | g.172448331T= | CA1420511892 | GHSR | c.83A= (p.Asp28=)
| |
| 3 | g.172448332C>A | CA355516729 | GHSR | c.82G>T (p.Asp28Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448332C= | CA1420511893 | GHSR | c.82G= (p.Asp28=)
| |
| 3 | g.172448332C>G | CA355516730 | GHSR | c.82G>C (p.Asp28His)
| |
| 3 | g.172448332C>T | CA355516731 | GHSR | c.82G>A (p.Asp28Asn)
| gnomAD v4 |
| 3 | g.172448333G>A | CA2706542 | GHSR | c.81C>T (p.Asn27=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448333G>C | CA355516732 | GHSR | c.81C>G (p.Asn27Lys)
| |
| 3 | g.172448333G= | CA1420511894 | GHSR | c.81C= (p.Asn27=)
| |
| 3 | g.172448333G>T | CA355516733 | GHSR | c.81C>A (p.Asn27Lys)
| dbSNP gnomAD v4 |
| 3 | g.172448334T>A | CA355516734 | GHSR | c.80A>T (p.Asn27Ile)
| |
| 3 | g.172448334T>C | CA355516735 | GHSR | c.80A>G (p.Asn27Ser)
| |
| 3 | g.172448334T>G | CA355516736 | GHSR | c.80A>C (p.Asn27Thr)
| |
| 3 | g.172448335T>A | CA355516738 | GHSR | c.79A>T (p.Asn27Tyr)
| |
| 3 | g.172448335T>C | CA355516739 | GHSR | c.79A>G (p.Asn27Asp)
| |
| 3 | g.172448335T>G | CA355516737 | GHSR | c.79A>C (p.Asn27His)
| |
| 3 | g.172448336G>A | CA87786383 | GHSR | c.78C>T (p.Gly26=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448336G>C | CA436965700 | GHSR | c.78C>G (p.Gly26=)
| |
| 3 | g.172448336G= | CA1420511895 | GHSR | c.78C= (p.Gly26=)
| |
| 3 | g.172448336G>T | CA87786382 | GHSR | c.78C>A (p.Gly26=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448337C>A | CA355516740 | GHSR | c.77G>T (p.Gly26Val)
| |
| 3 | g.172448337C>G | CA355516741 | GHSR | c.77G>C (p.Gly26Ala)
| |
| 3 | g.172448337C>T | CA355516743 | GHSR | c.77G>A (p.Gly26Asp)
| |
| 3 | g.172448338C>A | CA355516748 | GHSR | c.76G>T (p.Gly26Cys)
| |
| 3 | g.172448338C= | CA1420511896 | GHSR | c.76G= (p.Gly26=)
| |
| 3 | g.172448338C>G | CA355516744 | GHSR | c.76G>C (p.Gly26Arg)
| dbSNP gnomAD v4 |
| 3 | g.172448338C>T | CA355516746 | GHSR | c.76G>A (p.Gly26Ser)
| dbSNP gnomAD v4 |
| 3 | g.172448339G>A | CA436965705 | GHSR | c.75C>T (p.Pro25=)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448339G>C | CA436965706 | GHSR | c.75C>G (p.Pro25=)
| ClinVar |
| 3 | g.172448339G>T | CA436965707 | GHSR | c.75C>A (p.Pro25=)
| gnomAD v4 |
| 3 | g.172448343dup | CA2573136823 | GHSR | c.75dup (p.Gly26ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448343del | CA2577960387 | GHSR | c.75del (p.Gly26AlafsTer?)
| |
| 3 | g.172448340G>A | CA355516751 | GHSR | c.74C>T (p.Pro25Leu)
| |
| 3 | g.172448340G>C | CA355516752 | GHSR | c.74C>G (p.Pro25Arg)
| |
| 3 | g.172448340G>T | CA355516754 | GHSR | c.74C>A (p.Pro25His)
| gnomAD v4 |
| 3 | g.172448341G>A | CA355516756 | GHSR | c.73C>T (p.Pro25Ser)
| COSMIC COSMIC |
| 3 | g.172448341G>C | CA355516758 | GHSR | c.73C>G (p.Pro25Ala)
| |
| 3 | g.172448341G>T | CA355516759 | GHSR | c.73C>A (p.Pro25Thr)
| |
| 3 | g.172448342G>A | CA436965711 | GHSR | c.72C>T (p.Ser24=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448342G>C | CA436965712 | GHSR | c.72C>G (p.Ser24=)
| gnomAD v4 |
| 3 | g.172448342G= | CA1420511897 | GHSR | c.72C= (p.Ser24=)
| |
| 3 | g.172448342G>T | CA436965713 | GHSR | c.72C>A (p.Ser24=)
| dbSNP |
| 3 | g.172448343G>A | CA87786386 | GHSR | c.71C>T (p.Ser24Phe)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.172448343G>C | CA355516762 | GHSR | c.71C>G (p.Ser24Cys)
| |
| 3 | g.172448343G= | CA1420511898 | GHSR | c.71C= (p.Ser24=)
| |
| 3 | g.172448343G>T | CA355516760 | GHSR | c.71C>A (p.Ser24Tyr)
| |
| 3 | g.172448344A>C | CA355516765 | GHSR | c.70T>G (p.Ser24Ala)
| |
| 3 | g.172448344A>G | CA355516768 | GHSR | c.70T>C (p.Ser24Pro)
| |
| 3 | g.172448344A>T | CA355516766 | GHSR | c.70T>A (p.Ser24Thr)
| |
| 3 | g.172448345A= | CA1420511899 | GHSR | c.69T= (p.Ala23=)
| |
| 3 | g.172448345A>C | CA436965715 | GHSR | c.69T>G (p.Ala23=)
| dbSNP |
| 3 | g.172448345A>G | CA436965716 | GHSR | c.69T>C (p.Ala23=)
| |
| 3 | g.172448345A>T | CA436965717 | GHSR | c.69T>A (p.Ala23=)
| |
| 3 | g.172448346G>A | CA2706543 | GHSR | c.68C>T (p.Ala23Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448346G>C | CA355516771 | GHSR | c.68C>G (p.Ala23Gly)
| |
| 3 | g.172448346G= | CA1420511900 | GHSR | c.68C= (p.Ala23=)
| |
| 3 | g.172448346G>T | CA355516770 | GHSR | c.68C>A (p.Ala23Asp)
| |
| 3 | g.172448347C>A | CA355516772 | GHSR | c.67G>T (p.Ala23Ser)
| gnomAD v4 |
| 3 | g.172448347C>G | CA355516773 | GHSR | c.67G>C (p.Ala23Pro)
| |
| 3 | g.172448347C>T | CA355516774 | GHSR | c.67G>A (p.Ala23Thr)
| |
| 3 | g.172448348A>C | CA355516776 | GHSR | c.66T>G (p.Asp22Glu)
| |
| 3 | g.172448348A>G | CA436965721 | GHSR | c.66T>C (p.Asp22=)
| |
| 3 | g.172448348A>T | CA355516778 | GHSR | c.66T>A (p.Asp22Glu)
| |
| 3 | g.172448349T>A | CA355516780 | GHSR | c.65A>T (p.Asp22Val)
| |
| 3 | g.172448349T>C | CA355516782 | GHSR | c.65A>G (p.Asp22Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448349T>G | CA355516783 | GHSR | c.65A>C (p.Asp22Ala)
| |
| 3 | g.172448349T= | CA1420511901 | GHSR | c.65A= (p.Asp22=)
| |
| 3 | g.172448350C>A | CA355516784 | GHSR | c.64G>T (p.Asp22Tyr)
| |
| 3 | g.172448350C>G | CA355516785 | GHSR | c.64G>C (p.Asp22His)
| |
| 3 | g.172448350C>T | CA355516787 | GHSR | c.64G>A (p.Asp22Asn)
| |
| 3 | g.172448351C>A | CA355516789 | GHSR | c.63G>T (p.Trp21Cys)
| gnomAD v4 |
| 3 | g.172448351C= | CA1420511902 | GHSR | c.63G= (p.Trp21=)
| |
| 3 | g.172448351C>G | CA355516792 | GHSR | c.63G>C (p.Trp21Cys)
| dbSNP |
| 3 | g.172448351C>T | CA355516791 | GHSR | c.63G>A (p.Trp21Ter)
| COSMIC COSMIC |
| 3 | g.172448352C>A | CA355516794 | GHSR | c.62G>T (p.Trp21Leu)
| |
| 3 | g.172448352C>G | CA355516796 | GHSR | c.62G>C (p.Trp21Ser)
| |
| 3 | g.172448352C>T | CA355516797 | GHSR | c.62G>A (p.Trp21Ter)
| |
| 3 | g.172448353A>C | CA355516799 | GHSR | c.61T>G (p.Trp21Gly)
| |
| 3 | g.172448353A>G | CA355516800 | GHSR | c.61T>C (p.Trp21Arg)
| |
| 3 | g.172448353A>T | CA355516802 | GHSR | c.61T>A (p.Trp21Arg)
| gnomAD v4 |
| 3 | g.172448354G>A | CA2706544 | GHSR | c.60C>T (p.Asp20=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448354G>C | CA355516805 | GHSR | c.60C>G (p.Asp20Glu)
| |
| 3 | g.172448354G= | CA1420511903 | GHSR | c.60C= (p.Asp20=)
| |
| 3 | g.172448354G>T | CA355516806 | GHSR | c.60C>A (p.Asp20Glu)
| gnomAD v4 |
| 3 | g.172448355T>A | CA355516809 | GHSR | c.59A>T (p.Asp20Val)
| |
| 3 | g.172448355T>C | CA355516811 | GHSR | c.59A>G (p.Asp20Gly)
| |
| 3 | g.172448355T>G | CA355516807 | GHSR | c.59A>C (p.Asp20Ala)
| |
| 3 | g.172448356C>A | CA2706545 | GHSR | c.58G>T (p.Asp20Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448356C= | CA1420511904 | GHSR | c.58G= (p.Asp20=)
| |
| 3 | g.172448356C>G | CA355516814 | GHSR | c.58G>C (p.Asp20His)
| |
| 3 | g.172448356C>T | CA355516816 | GHSR | c.58G>A (p.Asp20Asn)
| |
| 3 | g.172448357C>A | CA436965729 | GHSR | c.57G>T (p.Leu19=)
| |
| 3 | g.172448357C= | CA1420511905 | GHSR | c.57G= (p.Leu19=)
| |
| 3 | g.172448357C>G | CA436965730 | GHSR | c.57G>C (p.Leu19=)
| |
| 3 | g.172448357C>T | CA436965731 | GHSR | c.57G>A (p.Leu19=)
| ClinVar dbSNP |
| 3 | g.172448358A= | CA1420511906 | GHSR | c.56T= (p.Leu19=)
| |
| 3 | g.172448358A>C | CA2706546 | GHSR | c.56T>G (p.Leu19Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448358A>G | CA355516818 | GHSR | c.56T>C (p.Leu19Pro)
| |
| 3 | g.172448358A>T | CA87786418 | GHSR | c.56T>A (p.Leu19Gln)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448359G>A | CA436965732 | GHSR | c.55C>T (p.Leu19=)
| |
| 3 | g.172448359G>C | CA355516821 | GHSR | c.55C>G (p.Leu19Val)
| |
| 3 | g.172448359G= | CA1420511907 | GHSR | c.55C= (p.Leu19=)
| |
| 3 | g.172448359G>T | CA355516823 | GHSR | c.55C>A (p.Leu19Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448359_172448360delinsCT | CA2580069087 | GHSR | c.54_55delinsAG (p.Asp18_Leu19delinsGluVal)
| ClinVar |
| 3 | g.172448360G>A | CA436965733 | GHSR | c.54C>T (p.Asp18=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448360G>C | CA355516825 | GHSR | c.54C>G (p.Asp18Glu)
| |
| 3 | g.172448360G= | CA1420511908 | GHSR | c.54C= (p.Asp18=)
| |
| 3 | g.172448360G>T | CA355516827 | GHSR | c.54C>A (p.Asp18Glu)
| gnomAD v4 |
| 3 | g.172448361T>A | CA355516829 | GHSR | c.53A>T (p.Asp18Val)
| |
| 3 | g.172448361T>C | CA355516830 | GHSR | c.53A>G (p.Asp18Gly)
| |
| 3 | g.172448361T>G | CA355516832 | GHSR | c.53A>C (p.Asp18Ala)
| |
| 3 | g.172448362C>A | CA2706547 | GHSR | c.52G>T (p.Asp18Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448362C= | CA1420511909 | GHSR | c.52G= (p.Asp18=)
| |
| 3 | g.172448362C>G | CA355516835 | GHSR | c.52G>C (p.Asp18His)
| gnomAD v4 |
| 3 | g.172448362C>T | CA2706548 | GHSR | c.52G>A (p.Asp18Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448363G>A | CA436965738 | GHSR | c.51C>T (p.Ala17=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448363G>C | CA436965739 | GHSR | c.51C>G (p.Ala17=)
| gnomAD v4 |
| 3 | g.172448363G= | CA1420511910 | GHSR | c.51C= (p.Ala17=)
| |
| 3 | g.172448363G>T | CA436965740 | GHSR | c.51C>A (p.Ala17=)
| |
| 3 | g.172448364G>A | CA355516837 | GHSR | c.50C>T (p.Ala17Val)
| gnomAD v4 |
| 3 | g.172448364G>C | CA87786448 | GHSR | c.50C>G (p.Ala17Gly)
| dbSNP |
| 3 | g.172448364G= | CA1420511911 | GHSR | c.50C= (p.Ala17=)
| |
| 3 | g.172448364G>T | CA355516839 | GHSR | c.50C>A (p.Ala17Asp)
| ClinVar gnomAD v4 |
| 3 | g.172448365C>A | CA355516841 | GHSR | c.49G>T (p.Ala17Ser)
| |
| 3 | g.172448365C= | CA1420511912 | GHSR | c.49G= (p.Ala17=)
| |
| 3 | g.172448365C>G | CA355516842 | GHSR | c.49G>C (p.Ala17Pro)
| |
| 3 | g.172448365C>T | CA355516843 | GHSR | c.49G>A (p.Ala17Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448366C>A | CA436965742 | GHSR | c.48G>T (p.Leu16=)
| |
| 3 | g.172448366C>G | CA436965743 | GHSR | c.48G>C (p.Leu16=)
| |
| 3 | g.172448366C>T | CA436965744 | GHSR | c.48G>A (p.Leu16=)
| |
| 3 | g.172448367A>C | CA355516845 | GHSR | c.47T>G (p.Leu16Arg)
| |
| 3 | g.172448367A>G | CA355516847 | GHSR | c.47T>C (p.Leu16Pro)
| gnomAD v4 |
| 3 | g.172448367A>T | CA355516848 | GHSR | c.47T>A (p.Leu16Gln)
| |
| 3 | g.172448368G>A | CA436965745 | GHSR | c.46C>T (p.Leu16=)
| dbSNP gnomAD v4 |
| 3 | g.172448368G>C | CA355516849 | GHSR | c.46C>G (p.Leu16Val)
| |
| 3 | g.172448368G= | CA1420511913 | GHSR | c.46C= (p.Leu16=)
| |
| 3 | g.172448368G>T | CA355516850 | GHSR | c.46C>A (p.Leu16Met)
| |
| 3 | g.172448369T>A | CA2706549 | GHSR | c.45A>T (p.Thr15=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448369T>C | CA436965749 | GHSR | c.45A>G (p.Thr15=)
| |
| 3 | g.172448369T>G | CA436965748 | GHSR | c.45A>C (p.Thr15=)
| |
| 3 | g.172448369T= | CA1420511914 | GHSR | c.45A= (p.Thr15=)
| |
| 3 | g.172448370G>A | CA355516853 | GHSR | c.44C>T (p.Thr15Ile)
| gnomAD v4 |
| 3 | g.172448370G>C | CA355516855 | GHSR | c.44C>G (p.Thr15Arg)
| |
| 3 | g.172448370G>T | CA355516852 | GHSR | c.44C>A (p.Thr15Lys)
| |
| 3 | g.172448371T>A | CA355516858 | GHSR | c.43A>T (p.Thr15Ser)
| |
| 3 | g.172448371T>C | CA355516856 | GHSR | c.43A>G (p.Thr15Ala)
| |
| 3 | g.172448371T>G | CA355516857 | GHSR | c.43A>C (p.Thr15Pro)
| gnomAD v4 |
| 3 | g.172448372G>A | CA436965751 | GHSR | c.42C>T (p.Leu14=)
| gnomAD v4 |
| 3 | g.172448372G>C | CA436965752 | GHSR | c.42C>G (p.Leu14=)
| |
| 3 | g.172448372G>T | CA436965753 | GHSR | c.42C>A (p.Leu14=)
| |
| 3 | g.172448373A= | CA1420511915 | GHSR | c.41T= (p.Leu14=)
| |
| 3 | g.172448373A>C | CA355516859 | GHSR | c.41T>G (p.Leu14Arg)
| |
| 3 | g.172448373A>G | CA355516861 | GHSR | c.41T>C (p.Leu14Pro)
| |
| 3 | g.172448373A>T | CA355516863 | GHSR | c.41T>A (p.Leu14His)
| dbSNP |
| 3 | g.172448374G>A | CA87786463 | GHSR | c.40C>T (p.Leu14Phe)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.172448374G>C | CA355516865 | GHSR | c.40C>G (p.Leu14Val)
| gnomAD v4 |
| 3 | g.172448374G= | CA1420511916 | GHSR | c.40C= (p.Leu14=)
| |
| 3 | g.172448374G>T | CA355516870 | GHSR | c.40C>A (p.Leu14Ile)
| |
| 3 | g.172448375G>A | CA436965754 | GHSR | c.39C>T (p.Asn13=)
| |
| 3 | g.172448375G>C | CA355516872 | GHSR | c.39C>G (p.Asn13Lys)
| |
| 3 | g.172448375G>T | CA355516874 | GHSR | c.39C>A (p.Asn13Lys)
| |
| 3 | g.172448376T>A | CA355516876 | GHSR | c.38A>T (p.Asn13Ile)
| gnomAD v4 |
| 3 | g.172448376T>C | CA2706550 | GHSR | c.38A>G (p.Asn13Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448376T>G | CA355516878 | GHSR | c.38A>C (p.Asn13Thr)
| |
| 3 | g.172448376T= | CA1420511917 | GHSR | c.38A= (p.Asn13=)
| |
| 3 | g.172448377T>A | CA355516881 | GHSR | c.37A>T (p.Asn13Tyr)
| |
| 3 | g.172448377T>C | CA355516879 | GHSR | c.37A>G (p.Asn13Asp)
| |
| 3 | g.172448377T>G | CA355516880 | GHSR | c.37A>C (p.Asn13His)
| |
| 3 | g.172448378G>A | CA436965757 | GHSR | c.36C>T (p.Phe12=)
| |
| 3 | g.172448378G>C | CA355516882 | GHSR | c.36C>G (p.Phe12Leu)
| COSMIC COSMIC |
| 3 | g.172448378G>T | CA355516884 | GHSR | c.36C>A (p.Phe12Leu)
| |
| 3 | g.172448379A>C | CA355516885 | GHSR | c.35T>G (p.Phe12Cys)
| gnomAD v4 |
| 3 | g.172448379A>G | CA355516887 | GHSR | c.35T>C (p.Phe12Ser)
| |
| 3 | g.172448379A>T | CA355516889 | GHSR | c.35T>A (p.Phe12Tyr)
| |
| 3 | g.172448380A>C | CA355516891 | GHSR | c.34T>G (p.Phe12Val)
| |
| 3 | g.172448380A>G | CA355516892 | GHSR | c.34T>C (p.Phe12Leu)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448380A>T | CA355516893 | GHSR | c.34T>A (p.Phe12Ile)
| |
| 3 | g.172448380_172448381delinsAC | CA1420511918 | GHSR | c.33_34delinsGT (p.Gly11=)
| |
| 3 | g.172448381C>A | CA436965761 | GHSR | c.33G>T (p.Gly11=)
| ClinVar dbSNP gnomAD v2 |
| 3 | g.172448381C= | CA1420511919 | GHSR | c.33G= (p.Gly11=)
| |
| 3 | g.172448381C>G | CA436965762 | GHSR | c.33G>C (p.Gly11=)
| |
| 3 | g.172448381C>T | CA2706551 | GHSR | c.33G>A (p.Gly11=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448384del | CA548333840 | GHSR | c.33del (p.Phe12SerfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448382C>A | CA355516896 | GHSR | c.32G>T (p.Gly11Val)
| |
| 3 | g.172448382C= | CA1420511920 | GHSR | c.32G= (p.Gly11=)
| |
| 3 | g.172448382C>G | CA355516897 | GHSR | c.32G>C (p.Gly11Ala)
| |
| 3 | g.172448382C>T | CA87786473 | GHSR | c.32G>A (p.Gly11Glu)
| dbSNP |
| 3 | g.172448383C>A | CA355516905 | GHSR | c.31G>T (p.Gly11Trp)
| |
| 3 | g.172448383C>G | CA355516903 | GHSR | c.31G>C (p.Gly11Arg)
| gnomAD v4 |
| 3 | g.172448383C>T | CA355516900 | GHSR | c.31G>A (p.Gly11Arg)
| |
| 3 | g.172448384C>A | CA2706552 | GHSR | c.30G>T (p.Pro10=)
| dbSNP ExAC COSMIC COSMIC |
| 3 | g.172448384C= | CA1420511921 | GHSR | c.30G= (p.Pro10=)
| |
| 3 | g.172448384C>G | CA436965763 | GHSR | c.30G>C (p.Pro10=)
| |
| 3 | g.172448384C>T | CA436965764 | GHSR | c.30G>A (p.Pro10=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448385G>A | CA355516909 | GHSR | c.29C>T (p.Pro10Leu)
| dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.172448385G>C | CA355516911 | GHSR | c.29C>G (p.Pro10Arg)
| gnomAD v4 |
| 3 | g.172448385G= | CA1420511922 | GHSR | c.29C= (p.Pro10=)
| |
| 3 | g.172448385G>T | CA355516912 | GHSR | c.29C>A (p.Pro10Gln)
| gnomAD v4 |
| 3 | g.172448386G>A | CA355516915 | GHSR | c.28C>T (p.Pro10Ser)
| |
| 3 | g.172448386G>C | CA355516916 | GHSR | c.28C>G (p.Pro10Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448386G= | CA1420511923 | GHSR | c.28C= (p.Pro10=)
| |
| 3 | g.172448386G>T | CA355516918 | GHSR | c.28C>A (p.Pro10Thr)
| gnomAD v4 |
| 3 | g.172448387C>A | CA355516919 | GHSR | c.27G>T (p.Glu9Asp)
| gnomAD v4 |
| 3 | g.172448387C= | CA1420511924 | GHSR | c.27G= (p.Glu9=)
| |
| 3 | g.172448387C>G | CA355516921 | GHSR | c.27G>C (p.Glu9Asp)
| |
| 3 | g.172448387C>T | CA436965768 | GHSR | c.27G>A (p.Glu9=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448388T>A | CA355516923 | GHSR | c.26A>T (p.Glu9Val)
| |
| 3 | g.172448388T>C | CA355516925 | GHSR | c.26A>G (p.Glu9Gly)
| |
| 3 | g.172448388T>G | CA355516927 | GHSR | c.26A>C (p.Glu9Ala)
| |
| 3 | g.172448389C>A | CA2706553 | GHSR | c.25G>T (p.Glu9Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448389C= | CA1420511925 | GHSR | c.25G= (p.Glu9=)
| |
| 3 | g.172448389C>G | CA355516932 | GHSR | c.25G>C (p.Glu9Gln)
| |
| 3 | g.172448389C>T | CA355516929 | GHSR | c.25G>A (p.Glu9Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448390T>A | CA355516933 | GHSR | c.24A>T (p.Glu8Asp)
| |
| 3 | g.172448390T>C | CA436965551 | GHSR | c.24A>G (p.Glu8=)
| |
| 3 | g.172448390T>G | CA355516934 | GHSR | c.24A>C (p.Glu8Asp)
| |
| 3 | g.172448391T>A | CA355516936 | GHSR | c.23A>T (p.Glu8Val)
| |
| 3 | g.172448391T>C | CA355516938 | GHSR | c.23A>G (p.Glu8Gly)
| dbSNP |
| 3 | g.172448391T>G | CA355516940 | GHSR | c.23A>C (p.Glu8Ala)
| |
| 3 | g.172448391T= | CA1420511926 | GHSR | c.23A= (p.Glu8=)
| |
| 3 | g.172448392C>A | CA355516944 | GHSR | c.22G>T (p.Glu8Ter)
| gnomAD v4 |
| 3 | g.172448392C= | CA1420511927 | GHSR | c.22G= (p.Glu8=)
| |
| 3 | g.172448392C>G | CA355516941 | GHSR | c.22G>C (p.Glu8Gln)
| gnomAD v4 |
| 3 | g.172448392C>T | CA2706554 | GHSR | c.22G>A (p.Glu8Lys)
| dbSNP ExAC gnomAD v2 |
| 3 | g.172448393G>A | CA436965554 | GHSR | c.21C>T (p.Ser7=)
| |
| 3 | g.172448393G>C | CA355516946 | GHSR | c.21C>G (p.Ser7Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448393G= | CA1420511928 | GHSR | c.21C= (p.Ser7=)
| |
| 3 | g.172448393G>T | CA355516947 | GHSR | c.21C>A (p.Ser7Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448394C>A | CA355516949 | GHSR | c.20G>T (p.Ser7Ile)
| gnomAD v4 |
| 3 | g.172448394C= | CA1420511929 | GHSR | c.20G= (p.Ser7=)
| |
| 3 | g.172448394C>G | CA355516950 | GHSR | c.20G>C (p.Ser7Thr)
| gnomAD v4 |
| 3 | g.172448394C>T | CA87786483 | GHSR | c.20G>A (p.Ser7Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448395T>A | CA355516957 | GHSR | c.19A>T (p.Ser7Cys)
| |
| 3 | g.172448395T>C | CA355516955 | GHSR | c.19A>G (p.Ser7Gly)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448395T>G | CA355516954 | GHSR | c.19A>C (p.Ser7Arg)
| |
| 3 | g.172448396G>A | CA436965563 | GHSR | c.18C>T (p.Pro6=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448396G>C | CA436965564 | GHSR | c.18C>G (p.Pro6=)
| |
| 3 | g.172448396G= | CA1420511930 | GHSR | c.18C= (p.Pro6=)
| |
| 3 | g.172448396G>T | CA436965566 | GHSR | c.18C>A (p.Pro6=)
| |
| 3 | g.172448398del | CA2668560154 | GHSR | c.18del (p.Ser7AlafsTer?)
| gnomAD v4 |
| 3 | g.172448397G>A | CA355516959 | GHSR | c.17C>T (p.Pro6Leu)
| gnomAD v4 |
| 3 | g.172448397G>C | CA355516963 | GHSR | c.17C>G (p.Pro6Arg)
| |
| 3 | g.172448397G>T | CA355516961 | GHSR | c.17C>A (p.Pro6His)
| gnomAD v4 |
| 3 | g.172448398G>A | CA355516965 | GHSR | c.16C>T (p.Pro6Ser)
| dbSNP |
| 3 | g.172448398G>C | CA355516968 | GHSR | c.16C>G (p.Pro6Ala)
| |
| 3 | g.172448398G= | CA1420511931 | GHSR | c.16C= (p.Pro6=)
| |
| 3 | g.172448398G>T | CA355516966 | GHSR | c.16C>A (p.Pro6Thr)
| |
| 3 | g.172448399C>A | CA436965571 | GHSR | c.15G>T (p.Thr5=)
| gnomAD v4 |
| 3 | g.172448399C>G | CA436965572 | GHSR | c.15G>C (p.Thr5=)
| |
| 3 | g.172448399C>T | CA436965573 | GHSR | c.15G>A (p.Thr5=)
| gnomAD v4 |
| 3 | g.172448400G>A | CA87786495 | GHSR | c.14C>T (p.Thr5Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448400G>C | CA355516972 | GHSR | c.14C>G (p.Thr5Arg)
| |
| 3 | g.172448400G= | CA1420511932 | GHSR | c.14C= (p.Thr5=)
| |
| 3 | g.172448400G>T | CA2706555 | GHSR | c.14C>A (p.Thr5Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448400_172448401insA | CA2759408660 | GHSR | c.13_14insT (p.Thr5IlefsTer?)
| |
| 3 | g.172448401T>A | CA355516974 | GHSR | c.13A>T (p.Thr5Ser)
| |
| 3 | g.172448401T>C | CA355516976 | GHSR | c.13A>G (p.Thr5Ala)
| gnomAD v4 |
| 3 | g.172448401T>G | CA355516978 | GHSR | c.13A>C (p.Thr5Pro)
| |
| 3 | g.172448402C>A | CA436965577 | GHSR | c.12G>T (p.Ala4=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448402C= | CA1420511933 | GHSR | c.12G= (p.Ala4=)
| |
| 3 | g.172448402C>G | CA2706556 | GHSR | c.12G>C (p.Ala4=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448402C>T | CA436965578 | GHSR | c.12G>A (p.Ala4=)
| gnomAD v4 |
| 3 | g.172448403G>A | CA355516981 | GHSR | c.11C>T (p.Ala4Val)
| gnomAD v4 |
| 3 | g.172448403G>C | CA355516982 | GHSR | c.11C>G (p.Ala4Gly)
| |
| 3 | g.172448403G>T | CA355516984 | GHSR | c.11C>A (p.Ala4Glu)
| gnomAD v4 |
| 3 | g.172448404C>A | CA355516986 | GHSR | c.10G>T (p.Ala4Ser)
| gnomAD v4 |
| 3 | g.172448404C= | CA1420511934 | GHSR | c.10G= (p.Ala4=)
| |
| 3 | g.172448404C>G | CA355516988 | GHSR | c.10G>C (p.Ala4Pro)
| |
| 3 | g.172448404C>T | CA355516990 | GHSR | c.10G>A (p.Ala4Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448405G>A | CA436965585 | GHSR | c.9C>T (p.Asn3=)
| gnomAD v4 |
| 3 | g.172448405G>C | CA355516992 | GHSR | c.9C>G (p.Asn3Lys)
| |
| 3 | g.172448405G= | CA1420511935 | GHSR | c.9C= (p.Asn3=)
| |
| 3 | g.172448405G>T | CA355516994 | GHSR | c.9C>A (p.Asn3Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448406T>A | CA355516996 | GHSR | c.8A>T (p.Asn3Ile)
| |
| 3 | g.172448406T>C | CA355517000 | GHSR | c.8A>G (p.Asn3Ser)
| |
| 3 | g.172448406T>G | CA355516998 | GHSR | c.8A>C (p.Asn3Thr)
| gnomAD v4 |
| 3 | g.172448407T>A | CA355517002 | GHSR | c.7A>T (p.Asn3Tyr)
| |
| 3 | g.172448407T>C | CA355517003 | GHSR | c.7A>G (p.Asn3Asp)
| |
| 3 | g.172448407T>G | CA355517004 | GHSR | c.7A>C (p.Asn3His)
| |
| 3 | g.172448408C>A | CA355517005 | GHSR | c.6G>T (p.Trp2Cys)
| gnomAD v4 |
| 3 | g.172448408C= | CA1420511936 | GHSR | c.6G= (p.Trp2=)
| |
| 3 | g.172448408C>G | CA355517007 | GHSR | c.6G>C (p.Trp2Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448408C>T | CA118935 | GHSR | c.6G>A (p.Trp2Ter)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448409C>A | CA355517010 | GHSR | c.5G>T (p.Trp2Leu)
| |
| 3 | g.172448409C>G | CA355517012 | GHSR | c.5G>C (p.Trp2Ser)
| |
| 3 | g.172448409C>T | CA355517014 | GHSR | c.5G>A (p.Trp2Ter)
| gnomAD v4 |
| 3 | g.172448410A= | CA1420511937 | GHSR | c.4T= (p.Trp2=)
| |
| 3 | g.172448410A>C | CA355517018 | GHSR | c.4T>G (p.Trp2Gly)
| |
| 3 | g.172448410A>G | CA2706557 | GHSR | c.4T>C (p.Trp2Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448410A>T | CA355517016 | GHSR | c.4T>A (p.Trp2Arg)
| |
| 3 | g.172448411C>A | CA355517021 | GHSR | c.3G>T (p.Met1Ile)
| gnomAD v4 |
| 3 | g.172448411C>G | CA355517022 | GHSR | c.3G>C (p.Met1Ile)
| |
| 3 | g.172448411C>T | CA355517023 | GHSR | c.3G>A (p.Met1Ile)
| gnomAD v4 |
| 3 | g.172448412A= | CA1420511938 | GHSR | c.2T= (p.Met1=)
| |
| 3 | g.172448412A>C | CA355517025 | GHSR | c.2T>G (p.Met1Arg)
| dbSNP |
| 3 | g.172448412A>G | CA355517027 | GHSR | c.2T>C (p.Met1Thr)
| gnomAD v4 |
| 3 | g.172448412A>T | CA355517029 | GHSR | c.2T>A (p.Met1Lys)
| gnomAD v4 |
| 3 | g.172448413T>A | CA355517032 | GHSR | c.1A>T (p.Met1Leu)
| gnomAD v4 |
| 3 | g.172448413T>C | CA355517034 | GHSR | c.1A>G (p.Met1Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448413T>G | CA355517035 | GHSR | c.1A>C (p.Met1Leu)
| |
| 3 | g.172448414G>A | CA2668560155 | GHSR | c.-1C>T (n.-1C>T)
| gnomAD v4 |
| 3 | g.172448414G>T | CA2668560156 | GHSR | c.-1C>A (n.-1C>A)
| gnomAD v4 |
| 3 | g.172448415C>A | CA2668560157 | GHSR | c.-2G>T (n.-2G>T)
| gnomAD v4 |
| 3 | g.172448415C= | CA1420511939 | GHSR | c.-2G= (n.-2G=)
| |
| 3 | g.172448415C>T | CA548333803 | GHSR | c.-2G>A (n.-2G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448416T>C | CA2668560158 | GHSR | c.-3A>G (n.-3A>G)
| gnomAD v4 |
| 3 | g.172448417G>A | CA548333804 | GHSR | c.-4C>T (n.-4C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448417G= | CA1420511940 | GHSR | c.-4C= (n.-4C=)
| |
| 3 | g.172448418C>A | CA436965599 | GHSR | c.-5G>T (n.-5G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448418C= | CA1420511941 | GHSR | c.-5G= (n.-5G=)
| |
| 3 | g.172448418C>T | CA2706558 | GHSR | c.-5G>A (n.-5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448419C>A | CA2706559 | GHSR | c.-6G>T (n.-6G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448419C= | CA1420511942 | GHSR | c.-6G= (n.-6G=)
| |
| 3 | g.172448419C>G | CA87786513 | GHSR | c.-6G>C (n.-6G>C)
| dbSNP gnomAD v4 |
| 3 | g.172448419C>T | CA548333805 | GHSR | c.-6G>A (n.-6G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448420G>A | CA2706560 | GHSR | c.-7C>T (n.-7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448420G>C | CA548333806 | GHSR | c.-7C>G (n.-7C>G)
| dbSNP gnomAD v2 |
| 3 | g.172448420G= | CA1420511943 | GHSR | c.-7C= (n.-7C=)
| |
| 3 | g.172448420G>T | CA2606412754 | GHSR | c.-7C>A (n.-7C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448421del | CA436965602 | GHSR | c.-7del (n.-7del)
| |
| 3 | g.172448421G>A | CA2668560159 | GHSR | c.-8C>T (n.-8C>T)
| gnomAD v4 |
| 3 | g.172448422C>A | CA2668560160 | GHSR | c.-9G>T (n.-9G>T)
| gnomAD v4 |
| 3 | g.172448424C>A | CA2668560161 | GHSR | c.-11G>T (n.-11G>T)
| gnomAD v4 |
