| 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 |
| 3 | g.172448425A= | CA1420511944 | GHSR | c.-12T= (n.-12T=)
| |
| 3 | g.172448425A>G | CA2706561 | GHSR | c.-12T>C (n.-12T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448426G>A | CA1056403091 | GHSR | c.-13C>T (n.-13C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448426G= | CA1420511945 | GHSR | c.-13C= (n.-13C=)
| |
| 3 | g.172448426G>T | CA2668560162 | GHSR | c.-13C>A (n.-13C>A)
| gnomAD v4 |
| 3 | g.172448427C>A | CA2668560163 | GHSR | c.-14G>T (n.-14G>T)
| gnomAD v4 |
| 3 | g.172448427C>T | CA2668560164 | GHSR | c.-14G>A (n.-14G>A)
| gnomAD v4 |
| 3 | g.172448428T>A | CA2706562 | GHSR | c.-15A>T (n.-15A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448428T>C | CA2668560165 | GHSR | c.-15A>G (n.-15A>G)
| gnomAD v4 |
| 3 | g.172448428T= | CA1420511946 | GHSR | c.-15A= (n.-15A=)
| |
| 3 | g.172448428_172448429delinsTG | CA1420511947 | GHSR | c.-16_-15delinsCA (n.-16_-15delinsCA)
| |
| 3 | g.172448429del | CA902609095 | GHSR | c.-16del (n.-16del)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448429G>A | CA2668560166 | GHSR | c.-16C>T (n.-16C>T)
| gnomAD v4 |
| 3 | g.172448429G>C | CA902609096 | GHSR | c.-16C>G (n.-16C>G)
| dbSNP |
| 3 | g.172448429G= | CA1420511948 | GHSR | c.-16C= (n.-16C=)
| |
| 3 | g.172448429G>T | CA2668560167 | GHSR | c.-16C>A (n.-16C>A)
| gnomAD v4 |
| 3 | g.172448431A>G | CA2668560169 | GHSR | c.-18T>C (n.-18T>C)
| gnomAD v4 |
| 3 | g.172448431A>T | CA2668560168 | GHSR | c.-18T>A (n.-18T>A)
| gnomAD v4 |
| 3 | g.172448432C>A | CA87786539 | GHSR | c.-19G>T (n.-19G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448432C= | CA1420511949 | GHSR | c.-19G= (n.-19G=)
| |
| 3 | g.172448432C>T | CA2668560170 | GHSR | c.-19G>A (n.-19G>A)
| gnomAD v4 |
| 3 | g.172448433A>T | CA2668560171 | GHSR | c.-20T>A (n.-20T>A)
| gnomAD v4 |
| 3 | g.172448434G>A | CA2668560172 | GHSR | c.-21C>T (n.-21C>T)
| gnomAD v4 |
| 3 | g.172448434G>T | CA2668560173 | GHSR | c.-21C>A (n.-21C>A)
| gnomAD v4 |
| 3 | g.172448435G>A | CA2668560174 | GHSR | c.-22C>T (n.-22C>T)
| gnomAD v4 |
| 3 | g.172448435G>T | CA2668560175 | GHSR | c.-22C>A (n.-22C>A)
| gnomAD v4 |
| 3 | g.172448436C>A | CA2668560176 | GHSR | c.-23G>T (n.-23G>T)
| gnomAD v4 |
| 3 | g.172448436C= | CA1420511950 | GHSR | c.-23G= (n.-23G=)
| |
| 3 | g.172448436C>T | CA2706563 | GHSR | c.-23G>A (n.-23G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448438C>A | CA2668560177 | GHSR | c.-25G>T (n.-25G>T)
| gnomAD v4 |
| 3 | g.172448439T>C | CA87786576 | GHSR | c.-26A>G (n.-26A>G)
| dbSNP |
| 3 | g.172448439T= | CA1420511951 | GHSR | c.-26A= (n.-26A=)
| |
| 3 | g.172448441G>T | CA2668560178 | GHSR | c.-28C>A (n.-28C>A)
| gnomAD v4 |
| 3 | g.172448442G>T | CA2668560179 | GHSR | c.-29C>A (n.-29C>A)
| gnomAD v4 |
| 3 | g.172448443A>T | CA2668560180 | GHSR | c.-30T>A (n.-30T>A)
| gnomAD v4 |
| 3 | g.172448444C= | CA1420511952 | GHSR | c.-31G= (n.-31G=)
| |
| 3 | g.172448444C>G | CA2706564 | GHSR | c.-31G>C (n.-31G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448444C>T | CA2668560181 | GHSR | c.-31G>A (n.-31G>A)
| gnomAD v4 |
| 3 | g.172448445G>A | CA2668560182 | GHSR | c.-32C>T (n.-32C>T)
| gnomAD v4 |
| 3 | g.172448445G>C | CA87786583 | GHSR | c.-32C>G (n.-32C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448445G= | CA1420511953 | GHSR | c.-32C= (n.-32C=)
| |
| 3 | g.172448445G>T | CA2706565 | GHSR | c.-32C>A (n.-32C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448447G>A | CA548333807 | GHSR | c.-34C>T (n.-34C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448447G= | CA1420511954 | GHSR | c.-34C= (n.-34C=)
| |
| 3 | g.172448447G>T | CA2706566 | GHSR | c.-34C>A (n.-34C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448448A= | CA1420511955 | GHSR | c.-35T= (n.-35T=)
| |
| 3 | g.172448448A>G | CA87786616 | GHSR | c.-35T>C (n.-35T>C)
| dbSNP |
| 3 | g.172448449C>A | CA2668560183 | GHSR | c.-36G>T (n.-36G>T)
| gnomAD v4 |
| 3 | g.172448449C>T | CA2668560184 | GHSR | c.-36G>A (n.-36G>A)
| gnomAD v4 |
| 3 | g.172448450T>A | CA87786622 | GHSR | c.-37A>T (n.-37A>T)
| dbSNP |
| 3 | g.172448450T= | CA1420511956 | GHSR | c.-37A= (n.-37A=)
| |
| 3 | g.172448451G>C | CA548333808 | GHSR | c.-38C>G (n.-38C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448451G= | CA1420511957 | GHSR | c.-38C= (n.-38C=)
| |
| 3 | g.172448451G>T | CA87786632 | GHSR | c.-38C>A (n.-38C>A)
| dbSNP |
| 3 | g.172448452C>A | CA2668560185 | GHSR | c.-39G>T (n.-39G>T)
| gnomAD v4 |
| 3 | g.172448452C= | CA1420511958 | GHSR | c.-39G= (n.-39G=)
| |
| 3 | g.172448452C>G | CA1420511959 | GHSR | c.-39G>C (n.-39G>C)
| dbSNP |
| 3 | g.172448452C>T | CA2668560186 | GHSR | c.-39G>A (n.-39G>A)
| gnomAD v4 |
| 3 | g.172448453G>A | CA1420511961 | GHSR | c.-40C>T (n.-40C>T)
| dbSNP |
| 3 | g.172448453G>C | CA2668560187 | GHSR | c.-40C>G (n.-40C>G)
| gnomAD v4 |
| 3 | g.172448453G= | CA1420511960 | GHSR | c.-40C= (n.-40C=)
| |
| 3 | g.172448453G>T | CA2706567 | GHSR | c.-40C>A (n.-40C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
