| 3 | g.172448125G>A | CA355515172 | GHSR | c.289C>T (p.Pro97Ser)
| |
| 3 | g.172448125G>C | CA355515170 | GHSR | c.289C>G (p.Pro97Ala)
| |
| 3 | g.172448125G>T | CA355515168 | GHSR | c.289C>A (p.Pro97Thr)
| |
| 3 | g.172448126C>A | CA355515174 | GHSR | c.288G>T (p.Met96Ile)
| |
| 3 | g.172448126C>G | CA355515175 | GHSR | c.288G>C (p.Met96Ile)
| |
| 3 | g.172448126C>T | CA355515177 | GHSR | c.288G>A (p.Met96Ile)
| |
| 3 | g.172448127A>C | CA355515178 | GHSR | c.287T>G (p.Met96Arg)
| |
| 3 | g.172448127A>G | CA355515180 | GHSR | c.287T>C (p.Met96Thr)
| |
| 3 | g.172448127A>T | CA355515182 | GHSR | c.287T>A (p.Met96Lys)
| |
| 3 | g.172448128T>A | CA355515184 | GHSR | c.286A>T (p.Met96Leu)
| gnomAD v4 |
| 3 | g.172448128T>C | CA355515188 | GHSR | c.286A>G (p.Met96Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448128T>G | CA355515186 | GHSR | c.286A>C (p.Met96Leu)
| gnomAD v4 |
| 3 | g.172448128T= | CA1420511782 | GHSR | c.286A= (p.Met96=)
| |
| 3 | g.172448129G>A | CA436966557 | GHSR | c.285C>T (p.Cys95=)
| |
| 3 | g.172448129G>C | CA355515190 | GHSR | c.285C>G (p.Cys95Trp)
| |
| 3 | g.172448129G>T | CA355515191 | GHSR | c.285C>A (p.Cys95Ter)
| COSMIC COSMIC |
| 3 | g.172448129_172448130delinsGC | CA1420511783 | GHSR | c.284_285delinsGC (p.Cys95=)
| |
| 3 | g.172448130del | CA1420511784 | GHSR | c.284del (p.Cys95SerfsTer?)
| dbSNP |
| 3 | g.172448130C>A | CA355515193 | GHSR | c.284G>T (p.Cys95Phe)
| |
| 3 | g.172448130C>G | CA355515195 | GHSR | c.284G>C (p.Cys95Ser)
| |
| 3 | g.172448130C>T | CA355515197 | GHSR | c.284G>A (p.Cys95Tyr)
| |
| 3 | g.172448131A>C | CA355515200 | GHSR | c.283T>G (p.Cys95Gly)
| |
| 3 | g.172448131A>G | CA355515201 | GHSR | c.283T>C (p.Cys95Arg)
| gnomAD v4 |
| 3 | g.172448131A>T | CA355515205 | GHSR | c.283T>A (p.Cys95Ser)
| |
| 3 | g.172448132G>A | CA436965413 | GHSR | c.282C>T (p.Leu94=)
| gnomAD v4 |
| 3 | g.172448132G>C | CA436965415 | GHSR | c.282C>G (p.Leu94=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448132G= | CA1420511785 | GHSR | c.282C= (p.Leu94=)
| |
| 3 | g.172448132G>T | CA436965416 | GHSR | c.282C>A (p.Leu94=)
| |
| 3 | g.172448133del | CA2668560150 | GHSR | c.281del (p.Leu94ProfsTer?)
| gnomAD v4 |
| 3 | g.172448133A>C | CA355515731 | GHSR | c.281T>G (p.Leu94Arg)
| |
| 3 | g.172448133A>G | CA355515732 | GHSR | c.281T>C (p.Leu94Pro)
| |
| 3 | g.172448133A>T | CA355515733 | GHSR | c.281T>A (p.Leu94His)
| |
| 3 | g.172448134G>A | CA355515734 | GHSR | c.280C>T (p.Leu94Phe)
| gnomAD v4 |
| 3 | g.172448134G>C | CA355515739 | GHSR | c.280C>G (p.Leu94Val)
| gnomAD v4 |
| 3 | g.172448134G>T | CA355515737 | GHSR | c.280C>A (p.Leu94Ile)
| |
| 3 | g.172448135G>A | CA436965420 | GHSR | c.279C>T (p.Phe93=)
| |
| 3 | g.172448135G>C | CA355515742 | GHSR | c.279C>G (p.Phe93Leu)
| |
| 3 | g.172448135G>T | CA355515749 | GHSR | c.279C>A (p.Phe93Leu)
| |
| 3 | g.172448136A= | CA1420511786 | GHSR | c.278T= (p.Phe93=)
| |
| 3 | g.172448136A>C | CA2706496 | GHSR | c.278T>G (p.Phe93Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448136A>G | CA355515754 | GHSR | c.278T>C (p.Phe93Ser)
| ClinVar |
| 3 | g.172448136A>T | CA355515756 | GHSR | c.278T>A (p.Phe93Tyr)
| |
| 3 | g.172448137A>C | CA355515759 | GHSR | c.277T>G (p.Phe93Val)
| |
| 3 | g.172448137A>G | CA355515761 | GHSR | c.277T>C (p.Phe93Leu)
| |
| 3 | g.172448137A>T | CA355515764 | GHSR | c.277T>A (p.Phe93Ile)
| |
| 3 | g.172448138G>A | CA436965421 | GHSR | c.276C>T (p.Ile92=)
| |
| 3 | g.172448138G>C | CA355515766 | GHSR | c.276C>G (p.Ile92Met)
| |
| 3 | g.172448138G>T | CA436965423 | GHSR | c.276C>A (p.Ile92=)
| |
| 3 | g.172448139A>C | CA355515770 | GHSR | c.275T>G (p.Ile92Ser)
| |
| 3 | g.172448139A>G | CA355515771 | GHSR | c.275T>C (p.Ile92Thr)
| |
| 3 | g.172448139A>T | CA355515773 | GHSR | c.275T>A (p.Ile92Asn)
| |
| 3 | g.172448140T>A | CA355515783 | GHSR | c.274A>T (p.Ile92Phe)
| |
| 3 | g.172448140T>C | CA355515779 | GHSR | c.274A>G (p.Ile92Val)
| dbSNP |
| 3 | g.172448140T>G | CA355515781 | GHSR | c.274A>C (p.Ile92Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448140T= | CA1420511787 | GHSR | c.274A= (p.Ile92=)
| |
| 3 | g.172448141G>A | CA436965425 | GHSR | c.273C>T (p.Leu91=)
| |
| 3 | g.172448141G>C | CA436965427 | GHSR | c.273C>G (p.Leu91=)
| |
| 3 | g.172448141G>T | CA436965429 | GHSR | c.273C>A (p.Leu91=)
| |
| 3 | g.172448142A>C | CA355515784 | GHSR | c.272T>G (p.Leu91Arg)
| |
| 3 | g.172448142A>G | CA355515786 | GHSR | c.272T>C (p.Leu91Pro)
| |
| 3 | g.172448142A>T | CA355515789 | GHSR | c.272T>A (p.Leu91His)
| |
| 3 | g.172448143G>A | CA2706497 | GHSR | c.271C>T (p.Leu91Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448143G>C | CA355515792 | GHSR | c.271C>G (p.Leu91Val)
| |
| 3 | g.172448143G= | CA1420511788 | GHSR | c.271C= (p.Leu91=)
| |
| 3 | g.172448143G>T | CA355515794 | GHSR | c.271C>A (p.Leu91Ile)
| |
| 3 | g.172448147_172448194del | CA2668560151 | GHSR | c.224_271del (p.Arg75_Leu90del)
| gnomAD v4 |
| 3 | g.172448144C>A | CA436965431 | GHSR | c.270G>T (p.Leu90=)
| COSMIC |
| 3 | g.172448144C>G | CA436965433 | GHSR | c.270G>C (p.Leu90=)
| |
| 3 | g.172448144C>T | CA436965435 | GHSR | c.270G>A (p.Leu90=)
| dbSNP |
| 3 | g.172448145A= | CA1420511789 | GHSR | c.269T= (p.Leu90=)
| |
| 3 | g.172448145A>C | CA355515796 | GHSR | c.269T>G (p.Leu90Arg)
| |
| 3 | g.172448145A>G | CA355515799 | GHSR | c.269T>C (p.Leu90Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448145A>T | CA355515802 | GHSR | c.269T>A (p.Leu90Gln)
| |
| 3 | g.172448146G>A | CA436965436 | GHSR | c.268C>T (p.Leu90=)
| |
| 3 | g.172448146G>C | CA355515805 | GHSR | c.268C>G (p.Leu90Val)
| |
| 3 | g.172448146G>T | CA355515806 | GHSR | c.268C>A (p.Leu90Met)
| gnomAD v4 |
| 3 | g.172448147A>C | CA355515812 | GHSR | c.267T>G (p.Asp89Glu)
| |
| 3 | g.172448147A>G | CA436965439 | GHSR | c.267T>C (p.Asp89=)
| |
| 3 | g.172448147A>T | CA355515813 | GHSR | c.267T>A (p.Asp89Glu)
| |
| 3 | g.172448148T>A | CA355515815 | GHSR | c.266A>T (p.Asp89Val)
| |
| 3 | g.172448148T>C | CA355515819 | GHSR | c.266A>G (p.Asp89Gly)
| |
| 3 | g.172448148T>G | CA355515817 | GHSR | c.266A>C (p.Asp89Ala)
| COSMIC COSMIC |
| 3 | g.172448149C>A | CA355515822 | GHSR | c.265G>T (p.Asp89Tyr)
| |
| 3 | g.172448149C>G | CA355515825 | GHSR | c.265G>C (p.Asp89His)
| |
| 3 | g.172448149C>T | CA355515826 | GHSR | c.265G>A (p.Asp89Asn)
| |
| 3 | g.172448150G>A | CA436965444 | GHSR | c.264C>T (p.Ser88=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448150G>C | CA436965443 | GHSR | c.264C>G (p.Ser88=)
| |
| 3 | g.172448150G= | CA1420511790 | GHSR | c.264C= (p.Ser88=)
| |
| 3 | g.172448150G>T | CA436965441 | GHSR | c.264C>A (p.Ser88=)
| |
| 3 | g.172448151G>A | CA355515828 | GHSR | c.263C>T (p.Ser88Phe)
| |
| 3 | g.172448151G>C | CA355515829 | GHSR | c.263C>G (p.Ser88Cys)
| |
| 3 | g.172448151G= | CA1420511792 | GHSR | c.263C= (p.Ser88=)
| |
| 3 | g.172448151G>T | CA355515832 | GHSR | c.263C>A (p.Ser88Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448151_172448154delinsGAGA | CA1420511791 | GHSR | c.260_263delinsTCTC (p.Phe87=)
| |
| 3 | g.172448152A= | CA1420511793 | GHSR | c.262T= (p.Ser88=)
| |
| 3 | g.172448152A>C | CA355515836 | GHSR | c.262T>G (p.Ser88Ala)
| |
| 3 | g.172448152A>G | CA355515833 | GHSR | c.262T>C (p.Ser88Pro)
| |
| 3 | g.172448152A>T | CA355515838 | GHSR | c.262T>A (p.Ser88Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448154_172448156del | CA2706498 | GHSR | c.260_262del (p.Phe87del)
| dbSNP ExAC gnomAD v2 |
| 3 | g.172448153del | CA2577960385 | GHSR | c.261del (p.Ser88ProfsTer?)
| gnomAD v4 |
| 3 | g.172448153G>A | CA436965446 | GHSR | c.261C>T (p.Phe87=)
| |
| 3 | g.172448153G>C | CA355515840 | GHSR | c.261C>G (p.Phe87Leu)
| |
| 3 | g.172448153G>T | CA355515842 | GHSR | c.261C>A (p.Phe87Leu)
| |
| 3 | g.172448154A>C | CA355515846 | GHSR | c.260T>G (p.Phe87Cys)
| |
| 3 | g.172448154A>G | CA355515848 | GHSR | c.260T>C (p.Phe87Ser)
| |
| 3 | g.172448154A>T | CA355515851 | GHSR | c.260T>A (p.Phe87Tyr)
| |
| 3 | g.172448155A>C | CA355515859 | GHSR | c.259T>G (p.Phe87Val)
| |
| 3 | g.172448155A>G | CA355515855 | GHSR | c.259T>C (p.Phe87Leu)
| |
| 3 | g.172448155A>T | CA355515857 | GHSR | c.259T>A (p.Phe87Ile)
| |
| 3 | g.172448156G>A | CA436965450 | GHSR | c.258C>T (p.Ala86=)
| |
| 3 | g.172448156G>C | CA436965451 | GHSR | c.258C>G (p.Ala86=)
| |
| 3 | g.172448156G>T | CA436965452 | GHSR | c.258C>A (p.Ala86=)
| |
| 3 | g.172448157G>A | CA2706499 | GHSR | c.257C>T (p.Ala86Val)
| dbSNP ExAC gnomAD v2 |
| 3 | g.172448157G>C | CA355515862 | GHSR | c.257C>G (p.Ala86Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448157G= | CA1420511794 | GHSR | c.257C= (p.Ala86=)
| |
| 3 | g.172448157G>T | CA355515864 | GHSR | c.257C>A (p.Ala86Asp)
| |
| 3 | g.172448158C>A | CA355515866 | GHSR | c.256G>T (p.Ala86Ser)
| |
| 3 | g.172448158C>G | CA355515867 | GHSR | c.256G>C (p.Ala86Pro)
| |
| 3 | g.172448158C>T | CA355515869 | GHSR | c.256G>A (p.Ala86Thr)
| |
| 3 | g.172448159C>A | CA355515877 | GHSR | c.255G>T (p.Met85Ile)
| COSMIC COSMIC |
| 3 | g.172448159C= | CA1420511795 | GHSR | c.255G= (p.Met85=)
| |
| 3 | g.172448159C>G | CA355515879 | GHSR | c.255G>C (p.Met85Ile)
| |
| 3 | g.172448159C>T | CA87785961 | GHSR | c.255G>A (p.Met85Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448160A>C | CA355515882 | GHSR | c.254T>G (p.Met85Arg)
| |
| 3 | g.172448160A>G | CA355515883 | GHSR | c.254T>C (p.Met85Thr)
| |
| 3 | g.172448160A>T | CA355515885 | GHSR | c.254T>A (p.Met85Lys)
| |
| 3 | g.172448161T>A | CA355515888 | GHSR | c.253A>T (p.Met85Leu)
| |
| 3 | g.172448161T>C | CA355515890 | GHSR | c.253A>G (p.Met85Val)
| dbSNP gnomAD v4 |
| 3 | g.172448161T>G | CA355515893 | GHSR | c.253A>C (p.Met85Leu)
| |
| 3 | g.172448161T= | CA1420511796 | GHSR | c.253A= (p.Met85=)
| |
| 3 | g.172448162G>A | CA2706500 | GHSR | c.252C>T (p.Ser84=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448162G>C | CA355515897 | GHSR | c.252C>G (p.Ser84Arg)
| |
| 3 | g.172448162G= | CA1420511797 | GHSR | c.252C= (p.Ser84=)
| |
| 3 | g.172448162G>T | CA355515901 | GHSR | c.252C>A (p.Ser84Arg)
| |
| 3 | g.172448163C>A | CA355515903 | GHSR | c.251G>T (p.Ser84Ile)
| |
| 3 | g.172448163C>G | CA355515904 | GHSR | c.251G>C (p.Ser84Thr)
| |
| 3 | g.172448163C>T | CA355515906 | GHSR | c.251G>A (p.Ser84Asn)
| dbSNP |
| 3 | g.172448164T>A | CA355515910 | GHSR | c.250A>T (p.Ser84Cys)
| |
| 3 | g.172448164T>C | CA355515911 | GHSR | c.250A>G (p.Ser84Gly)
| |
| 3 | g.172448164T>G | CA355515907 | GHSR | c.250A>C (p.Ser84Arg)
| |
| 3 | g.172448165G>A | CA436965457 | GHSR | c.249C>T (p.Ser83=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448165G>C | CA436965458 | GHSR | c.249C>G (p.Ser83=)
| |
| 3 | g.172448165G= | CA1420511798 | GHSR | c.249C= (p.Ser83=)
| |
| 3 | g.172448165G>T | CA436965459 | GHSR | c.249C>A (p.Ser83=)
| |
| 3 | g.172448166G>A | CA355515913 | GHSR | c.248C>T (p.Ser83Phe)
| |
| 3 | g.172448166G>C | CA355515914 | GHSR | c.248C>G (p.Ser83Cys)
| |
| 3 | g.172448166G>T | CA355515918 | GHSR | c.248C>A (p.Ser83Tyr)
| |
| 3 | g.172448167A= | CA1420511799 | GHSR | c.247T= (p.Ser83=)
| |
| 3 | g.172448167A>C | CA355515920 | GHSR | c.247T>G (p.Ser83Ala)
| dbSNP |
| 3 | g.172448167A>G | CA355515922 | GHSR | c.247T>C (p.Ser83Pro)
| |
| 3 | g.172448167A>T | CA355515924 | GHSR | c.247T>A (p.Ser83Thr)
| |
| 3 | g.172448168C>A | CA436965461 | GHSR | c.246G>T (p.Leu82=)
| |
| 3 | g.172448168C>G | CA436965462 | GHSR | c.246G>C (p.Leu82=)
| |
| 3 | g.172448168C>T | CA436965463 | GHSR | c.246G>A (p.Leu82=)
| gnomAD v4 |
| 3 | g.172448169A>C | CA355515927 | GHSR | c.245T>G (p.Leu82Arg)
| |
| 3 | g.172448169A>G | CA355515937 | GHSR | c.245T>C (p.Leu82Pro)
| |
| 3 | g.172448169A>T | CA355515930 | GHSR | c.245T>A (p.Leu82Gln)
| |
| 3 | g.172448170G>A | CA436965465 | GHSR | c.244C>T (p.Leu82=)
| |
| 3 | g.172448170G>C | CA355515940 | GHSR | c.244C>G (p.Leu82Val)
| gnomAD v4 |
| 3 | g.172448170G>T | CA355515941 | GHSR | c.244C>A (p.Leu82Met)
| |
| 3 | g.172448171G>A | CA436965467 | GHSR | c.243C>T (p.Tyr81=)
| ClinVar gnomAD v4 |
| 3 | g.172448171G>C | CA355515944 | GHSR | c.243C>G (p.Tyr81Ter)
| |
| 3 | g.172448171G>T | CA355515946 | GHSR | c.243C>A (p.Tyr81Ter)
| gnomAD v4 |
| 3 | g.172448172T>A | CA355515952 | GHSR | c.242A>T (p.Tyr81Phe)
| |
| 3 | g.172448172T>C | CA355515951 | GHSR | c.242A>G (p.Tyr81Cys)
| gnomAD v4 |
| 3 | g.172448172T>G | CA355515949 | GHSR | c.242A>C (p.Tyr81Ser)
| |
| 3 | g.172448173A>C | CA355515955 | GHSR | c.241T>G (p.Tyr81Asp)
| |
| 3 | g.172448173A>G | CA355515958 | GHSR | c.241T>C (p.Tyr81His)
| gnomAD v4 |
| 3 | g.172448173A>T | CA355515957 | GHSR | c.241T>A (p.Tyr81Asn)
| |
| 3 | g.172448174G>A | CA436965471 | GHSR | c.240C>T (p.Leu80=)
| |
| 3 | g.172448174G>C | CA436965472 | GHSR | c.240C>G (p.Leu80=)
| |
| 3 | g.172448174G>T | CA436965473 | GHSR | c.240C>A (p.Leu80=)
| |
| 3 | g.172448175A= | CA1420511800 | GHSR | c.239T= (p.Leu80=)
| |
| 3 | g.172448175A>C | CA355515962 | GHSR | c.239T>G (p.Leu80Arg)
| |
| 3 | g.172448175A>G | CA355515967 | GHSR | c.239T>C (p.Leu80Pro)
| |
| 3 | g.172448175A>T | CA355515964 | GHSR | c.239T>A (p.Leu80His)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448176G>A | CA355515970 | GHSR | c.238C>T (p.Leu80Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448176G>C | CA355515972 | GHSR | c.238C>G (p.Leu80Val)
| ClinVar |
| 3 | g.172448176G= | CA1420511801 | GHSR | c.238C= (p.Leu80=)
| |
| 3 | g.172448176G>T | CA355515974 | GHSR | c.238C>A (p.Leu80Ile)
| |
| 3 | g.172448177G>A | CA436965477 | GHSR | c.237C>T (p.Asn79=)
| |
| 3 | g.172448177G>C | CA355515978 | GHSR | c.237C>G (p.Asn79Lys)
| |
| 3 | g.172448177G>T | CA355515980 | GHSR | c.237C>A (p.Asn79Lys)
| |
| 3 | g.172448178T>A | CA355515982 | GHSR | c.236A>T (p.Asn79Ile)
| gnomAD v4 |
| 3 | g.172448178T>C | CA2706501 | GHSR | c.236A>G (p.Asn79Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448178T>G | CA355515983 | GHSR | c.236A>C (p.Asn79Thr)
| |
| 3 | g.172448178T= | CA1420511802 | GHSR | c.236A= (p.Asn79=)
| |
| 3 | g.172448179T>A | CA355515984 | GHSR | c.235A>T (p.Asn79Tyr)
| |
| 3 | g.172448179T>C | CA355515985 | GHSR | c.235A>G (p.Asn79Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448179T>G | CA355515986 | GHSR | c.235A>C (p.Asn79His)
| gnomAD v4 |
| 3 | g.172448179T= | CA1420511803 | GHSR | c.235A= (p.Asn79=)
| |
| 3 | g.172448180G>A | CA436965483 | GHSR | c.234C>T (p.Thr78=)
| |
| 3 | g.172448180G>C | CA436965482 | GHSR | c.234C>G (p.Thr78=)
| |
| 3 | g.172448180G>T | CA436965481 | GHSR | c.234C>A (p.Thr78=)
| |
| 3 | g.172448181G>A | CA355515991 | GHSR | c.233C>T (p.Thr78Ile)
| |
| 3 | g.172448181G>C | CA355515989 | GHSR | c.233C>G (p.Thr78Ser)
| |
| 3 | g.172448181G= | CA1420511804 | GHSR | c.233C= (p.Thr78=)
| |
| 3 | g.172448181G>T | CA87785972 | GHSR | c.233C>A (p.Thr78Asn)
| ClinVar dbSNP gnomAD v4 |
| 3 | g.172448182T>A | CA355515993 | GHSR | c.232A>T (p.Thr78Ser)
| |
| 3 | g.172448182T>C | CA355516000 | GHSR | c.232A>G (p.Thr78Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448182T>G | CA2706502 | GHSR | c.232A>C (p.Thr78Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448182T= | CA1420511805 | GHSR | c.232A= (p.Thr78=)
| |
| 3 | g.172448183G>A | CA436965484 | GHSR | c.231C>T (p.Thr77=)
| |
| 3 | g.172448183G>C | CA2706503 | GHSR | c.231C>G (p.Thr77=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448183G= | CA1420511806 | GHSR | c.231C= (p.Thr77=)
| |
| 3 | g.172448183G>T | CA436965485 | GHSR | c.231C>A (p.Thr77=)
| |
| 3 | g.172448184G>A | CA355516006 | GHSR | c.230C>T (p.Thr77Ile)
| |
| 3 | g.172448184G>C | CA355516008 | GHSR | c.230C>G (p.Thr77Ser)
| |
| 3 | g.172448184G>T | CA355516010 | GHSR | c.230C>A (p.Thr77Asn)
| |
| 3 | g.172448185T>A | CA355516012 | GHSR | c.229A>T (p.Thr77Ser)
| dbSNP |
| 3 | g.172448185T>C | CA355516013 | GHSR | c.229A>G (p.Thr77Ala)
| gnomAD v4 |
| 3 | g.172448185T>G | CA2706504 | GHSR | c.229A>C (p.Thr77Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.172448185T= | CA1420511807 | GHSR | c.229A= (p.Thr77=)
| |
| 3 | g.172448186G>A | CA2706505 | GHSR | c.228C>T (p.Thr76=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448186G>C | CA436965487 | GHSR | c.228C>G (p.Thr76=)
| |
| 3 | g.172448186G= | CA1420511808 | GHSR | c.228C= (p.Thr76=)
| |
| 3 | g.172448186G>T | CA436965488 | GHSR | c.228C>A (p.Thr76=)
| |
| 3 | g.172448187G>A | CA355516027 | GHSR | c.227C>T (p.Thr76Ile)
| gnomAD v4 |
| 3 | g.172448187G>C | CA355516025 | GHSR | c.227C>G (p.Thr76Ser)
| |
| 3 | g.172448187G>T | CA355516016 | GHSR | c.227C>A (p.Thr76Asn)
| |
| 3 | g.172448188T>A | CA355516030 | GHSR | c.226A>T (p.Thr76Ser)
| |
| 3 | g.172448188T>C | CA355516031 | GHSR | c.226A>G (p.Thr76Ala)
| |
| 3 | g.172448188T>G | CA355516037 | GHSR | c.226A>C (p.Thr76Pro)
| dbSNP |
| 3 | g.172448188T= | CA1420511809 | GHSR | c.226A= (p.Thr76=)
| |
| 3 | g.172448189G>A | CA436965492 | GHSR | c.225C>T (p.Arg75=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448189G>C | CA436965493 | GHSR | c.225C>G (p.Arg75=)
| |
| 3 | g.172448189G= | CA1420511810 | GHSR | c.225C= (p.Arg75=)
| |
| 3 | g.172448189G>T | CA436965494 | GHSR | c.225C>A (p.Arg75=)
| |
| 3 | g.172448190C>A | CA355516039 | GHSR | c.224G>T (p.Arg75Leu)
| |
| 3 | g.172448190C>G | CA355516042 | GHSR | c.224G>C (p.Arg75Pro)
| |
| 3 | g.172448190C>T | CA355516044 | GHSR | c.224G>A (p.Arg75His)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448191G>A | CA355516046 | GHSR | c.223C>T (p.Arg75Cys)
| dbSNP |
| 3 | g.172448191G>C | CA355516050 | GHSR | c.223C>G (p.Arg75Gly)
| |
| 3 | g.172448191G= | CA1420511811 | GHSR | c.223C= (p.Arg75=)
| |
| 3 | g.172448191G>T | CA355516051 | GHSR | c.223C>A (p.Arg75Ser)
| |
| 3 | g.172448192C>A | CA436965498 | GHSR | c.222G>T (p.Leu74=)
| |
| 3 | g.172448192C>G | CA436965499 | GHSR | c.222G>C (p.Leu74=)
| |
| 3 | g.172448192C>T | CA436965500 | GHSR | c.222G>A (p.Leu74=)
| |
| 3 | g.172448193A= | CA1420511812 | GHSR | c.221T= (p.Leu74=)
| |
| 3 | g.172448193A>C | CA355516057 | GHSR | c.221T>G (p.Leu74Arg)
| |
| 3 | g.172448193A>G | CA355516059 | GHSR | c.221T>C (p.Leu74Pro)
| |
| 3 | g.172448193A>T | CA355516061 | GHSR | c.221T>A (p.Leu74Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448194G>A | CA436965501 | GHSR | c.220C>T (p.Leu74=)
| |
| 3 | g.172448194G>C | CA355516063 | GHSR | c.220C>G (p.Leu74Val)
| |
| 3 | g.172448194G>T | CA355516066 | GHSR | c.220C>A (p.Leu74Met)
| |
| 3 | g.172448194_172448202delinsGCTCGCGGA | CA1420511813 | GHSR | c.212_220delinsTCCGCGAGC (p.Phe71=)
| |
| 3 | g.172448195C>A | CA87785997 | GHSR | c.219G>T (p.Glu73Asp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448195C= | CA1420511814 | GHSR | c.219G= (p.Glu73=)
| |
| 3 | g.172448195C>G | CA355516072 | GHSR | c.219G>C (p.Glu73Asp)
| |
| 3 | g.172448195C>T | CA436965502 | GHSR | c.219G>A (p.Glu73=)
| |
| 3 | g.172448195_172448202del | CA87785993 | GHSR | c.212_219del (p.Phe71SerfsTer?)
| dbSNP |
| 3 | g.172448196T>A | CA355516075 | GHSR | c.218A>T (p.Glu73Val)
| |
| 3 | g.172448196T>C | CA87786001 | GHSR | c.218A>G (p.Glu73Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448196T>G | CA355516081 | GHSR | c.218A>C (p.Glu73Ala)
| |
| 3 | g.172448196T= | CA1420511815 | GHSR | c.218A= (p.Glu73=)
| |
| 3 | g.172448197C>A | CA355516084 | GHSR | c.217G>T (p.Glu73Ter)
| |
| 3 | g.172448197C= | CA1420511816 | GHSR | c.217G= (p.Glu73=)
| |
| 3 | g.172448197C>G | CA87786003 | GHSR | c.217G>C (p.Glu73Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448197C>T | CA355516088 | GHSR | c.217G>A (p.Glu73Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448198G>A | CA436965504 | GHSR | c.216C>T (p.Arg72=)
| ClinVar |
| 3 | g.172448198G>C | CA436965505 | GHSR | c.216C>G (p.Arg72=)
| |
| 3 | g.172448198G= | CA1420511817 | GHSR | c.216C= (p.Arg72=)
| |
| 3 | g.172448198G>T | CA436965506 | GHSR | c.216C>A (p.Arg72=)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448199C>A | CA355516090 | GHSR | c.215G>T (p.Arg72Leu)
| |
| 3 | g.172448199C>G | CA355516092 | GHSR | c.215G>C (p.Arg72Pro)
| gnomAD v4 |
| 3 | g.172448199C>T | CA355516095 | GHSR | c.215G>A (p.Arg72His)
| |
| 3 | g.172448200G>A | CA355516097 | GHSR | c.214C>T (p.Arg72Cys)
| gnomAD v4 COSMIC COSMIC |
| 3 | g.172448200G>C | CA355516100 | GHSR | c.214C>G (p.Arg72Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448200G= | CA1420511818 | GHSR | c.214C= (p.Arg72=)
| |
| 3 | g.172448200G>T | CA355516101 | GHSR | c.214C>A (p.Arg72Ser)
| |
| 3 | g.172448201G>A | CA436965510 | GHSR | c.213C>T (p.Phe71=)
| |
| 3 | g.172448201G>C | CA355516106 | GHSR | c.213C>G (p.Phe71Leu)
| |
| 3 | g.172448201G>T | CA355516102 | GHSR | c.213C>A (p.Phe71Leu)
| |
| 3 | g.172448202A>C | CA355516109 | GHSR | c.212T>G (p.Phe71Cys)
| |
| 3 | g.172448202A>G | CA355516112 | GHSR | c.212T>C (p.Phe71Ser)
| gnomAD v4 |
| 3 | g.172448202A>T | CA355516111 | GHSR | c.212T>A (p.Phe71Tyr)
| COSMIC COSMIC |
| 3 | g.172448203A= | CA1420511819 | GHSR | c.211T= (p.Phe71=)
| |
| 3 | g.172448203A>C | CA355516113 | GHSR | c.211T>G (p.Phe71Val)
| gnomAD v4 |
| 3 | g.172448203A>G | CA355516114 | GHSR | c.211T>C (p.Phe71Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448203A>T | CA355516115 | GHSR | c.211T>A (p.Phe71Ile)
| |
| 3 | g.172448204del | CA2759408656 | GHSR | c.210del (p.Phe71SerfsTer?)
| |
| 3 | g.172448204G>A | CA2706506 | GHSR | c.210C>T (p.Arg70=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448204G>C | CA436965513 | GHSR | c.210C>G (p.Arg70=)
| |
| 3 | g.172448204G= | CA1420511820 | GHSR | c.210C= (p.Arg70=)
| |
| 3 | g.172448204G>T | CA436965512 | GHSR | c.210C>A (p.Arg70=)
| |
| 3 | g.172448205C>A | CA355516117 | GHSR | c.209G>T (p.Arg70Leu)
| ClinVar |
| 3 | g.172448205C= | CA1420511821 | GHSR | c.209G= (p.Arg70=)
| |
| 3 | g.172448205C>G | CA355516118 | GHSR | c.209G>C (p.Arg70Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448205C>T | CA355516119 | GHSR | c.209G>A (p.Arg70His)
| |
| 3 | g.172448205_172448206insTTCG | CA2759408657 | GHSR | c.208_209insCGAA (p.Arg70ProfsTer?)
| |
| 3 | g.172448206G>A | CA355516121 | GHSR | c.208C>T (p.Arg70Cys)
| gnomAD v4 |
| 3 | g.172448206G>C | CA355516123 | GHSR | c.208C>G (p.Arg70Gly)
| |
| 3 | g.172448206G>T | CA355516126 | GHSR | c.208C>A (p.Arg70Ser)
| |
| 3 | g.172448207C>A | CA436965514 | GHSR | c.207G>T (p.Ser69=)
| dbSNP COSMIC COSMIC |
| 3 | g.172448207C= | CA1420511822 | GHSR | c.207G= (p.Ser69=)
| |
| 3 | g.172448207C>G | CA436965515 | GHSR | c.207G>C (p.Ser69=)
| COSMIC COSMIC |
| 3 | g.172448207C>T | CA87786020 | GHSR | c.207G>A (p.Ser69=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448208G>A | CA355516129 | GHSR | c.206C>T (p.Ser69Leu)
| gnomAD v4 |
| 3 | g.172448208G>C | CA355516134 | GHSR | c.206C>G (p.Ser69Trp)
| gnomAD v4 |
| 3 | g.172448208G>T | CA355516135 | GHSR | c.206C>A (p.Ser69Ter)
| |
| 3 | g.172448209A>C | CA355516140 | GHSR | c.205T>G (p.Ser69Ala)
| |
| 3 | g.172448209A>G | CA355516153 | GHSR | c.205T>C (p.Ser69Pro)
| |
| 3 | g.172448209A>T | CA355516145 | GHSR | c.205T>A (p.Ser69Thr)
| |
| 3 | g.172448210_172448217dup | CA2668560152 | GHSR | c.198_205dup (p.Ser69TrpfsTer?)
| gnomAD v4 |
| 3 | g.172448210C>A | CA436965517 | GHSR | c.204G>T (p.Val68=)
| |
| 3 | g.172448210C= | CA1420511823 | GHSR | c.204G= (p.Val68=)
| |
| 3 | g.172448210C>G | CA436965520 | GHSR | c.204G>C (p.Val68=)
| |
| 3 | g.172448210C>T | CA2706507 | GHSR | c.204G>A (p.Val68=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448210_172448224del | CA2534897065 | GHSR | c.190_204del (p.Thr64_Val68del)
| |
| 3 | g.172448211del | CA2759408658 | GHSR | c.203del (p.Val68GlyfsTer?)
| |
| 3 | g.172448211A= | CA1420511824 | GHSR | c.203T= (p.Val68=)
| |
| 3 | g.172448211A>C | CA355516162 | GHSR | c.203T>G (p.Val68Gly)
| dbSNP |
| 3 | g.172448211A>G | CA87786034 | GHSR | c.203T>C (p.Val68Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.172448211A>T | CA355516164 | GHSR | c.203T>A (p.Val68Glu)
| |
| 3 | g.172448212C>A | CA355516166 | GHSR | c.202G>T (p.Val68Leu)
| |
| 3 | g.172448212C= | CA1420511825 | GHSR | c.202G= (p.Val68=)
| |
| 3 | g.172448212C>G | CA355516169 | GHSR | c.202G>C (p.Val68Leu)
| |
| 3 | g.172448212C>T | CA355516172 | GHSR | c.202G>A (p.Val68Met)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.172448213C>A | CA436965522 | GHSR | c.201G>T (p.Val67=)
| |
| 3 | g.172448213C>G | CA436965523 | GHSR | c.201G>C (p.Val67=)
| |
| 3 | g.172448213C>T | CA436965524 | GHSR | c.201G>A (p.Val67=)
| gnomAD v4 |
| 3 | g.172448214A>C | CA355516176 | GHSR | c.200T>G (p.Val67Gly)
| |
| 3 | g.172448214A>G | CA355516178 | GHSR | c.200T>C (p.Val67Ala)
| |
| 3 | g.172448214A>T | CA355516181 | GHSR | c.200T>A (p.Val67Glu)
| |
| 3 | g.172448214_172448215insAA | CA2759408659 | GHSR | c.200_201insTT (p.Val68TrpfsTer?)
| |
| 3 | g.172448215C>A | CA355516187 | GHSR | c.199G>T (p.Val67Leu)
| |
| 3 | g.172448215C>G | CA355516185 | GHSR | c.199G>C (p.Val67Leu)
| |
| 3 | g.172448215C>T | CA355516183 | GHSR | c.199G>A (p.Val67Met)
| |
| 3 | g.172448216C>A | CA436965528 | GHSR | c.198G>T (p.Leu66=)
| |
| 3 | g.172448216C= | CA1420511826 | GHSR | c.198G= (p.Leu66=)
| |
| 3 | g.172448216C>G | CA436965530 | GHSR | c.198G>C (p.Leu66=)
| |
| 3 | g.172448216C>T | CA436965529 | GHSR | c.198G>A (p.Leu66=)
| dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.172448217A>C | CA355516193 | GHSR | c.197T>G (p.Leu66Arg)
| |
| 3 | g.172448217A>G | CA355516189 | GHSR | c.197T>C (p.Leu66Pro)
| gnomAD v4 |
| 3 | g.172448217A>T | CA355516190 | GHSR | c.197T>A (p.Leu66Gln)
| |
| 3 | g.172448218G>A | CA436965531 | GHSR | c.196C>T (p.Leu66=)
| dbSNP |
| 3 | g.172448218G>C | CA355516195 | GHSR | c.196C>G (p.Leu66Val)
| |
| 3 | g.172448218G= | CA1420511827 | GHSR | c.196C= (p.Leu66=)
| |
| 3 | g.172448218G>T | CA355516198 | GHSR | c.196C>A (p.Leu66Met)
| |
| 3 | g.172448219C>A | CA355516202 | GHSR | c.195G>T (p.Met65Ile)
| |
| 3 | g.172448219C= | CA1420511828 | GHSR | c.195G= (p.Met65=)
| |
| 3 | g.172448219C>G | CA355516205 | GHSR | c.195G>C (p.Met65Ile)
| |
| 3 | g.172448219C>T | CA355516209 | GHSR | c.195G>A (p.Met65Ile)
| dbSNP gnomAD v4 |
| 3 | g.172448220A= | CA1420511829 | GHSR | c.194T= (p.Met65=)
| |
| 3 | g.172448220A>C | CA355516211 | GHSR | c.194T>G (p.Met65Arg)
| |
| 3 | g.172448220A>G | CA355516213 | GHSR | c.194T>C (p.Met65Thr)
| dbSNP gnomAD v4 |
| 3 | g.172448220A>T | CA355516215 | GHSR | c.194T>A (p.Met65Lys)
| |
| 3 | g.172448221T>A | CA355516219 | GHSR | c.193A>T (p.Met65Leu)
| |
| 3 | g.172448221T>C | CA2706508 | GHSR | c.193A>G (p.Met65Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448221T>G | CA355516222 | GHSR | c.193A>C (p.Met65Leu)
| |
| 3 | g.172448221T= | CA1420511830 | GHSR | c.193A= (p.Met65=)
| |
| 3 | g.172448222G>A | CA436965538 | GHSR | c.192C>T (p.Thr64=)
| |
| 3 | g.172448222G>C | CA87786038 | GHSR | c.192C>G (p.Thr64=)
| dbSNP |
| 3 | g.172448222G= | CA1420511831 | GHSR | c.192C= (p.Thr64=)
| |
| 3 | g.172448222G>T | CA436965539 | GHSR | c.192C>A (p.Thr64=)
| |
| 3 | g.172448223G>A | CA355516228 | GHSR | c.191C>T (p.Thr64Ile)
| |
| 3 | g.172448223G>C | CA355516224 | GHSR | c.191C>G (p.Thr64Ser)
| |
| 3 | g.172448223G>T | CA355516226 | GHSR | c.191C>A (p.Thr64Asn)
| |
| 3 | g.172448224T>A | CA2706509 | GHSR | c.190A>T (p.Thr64Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172448224T>C | CA355516231 | GHSR | c.190A>G (p.Thr64Ala)
| gnomAD v4 |
| 3 | g.172448224T>G | CA355516234 | GHSR | c.190A>C (p.Thr64Pro)
| |
| 3 | g.172448224T= | CA1420511832 | GHSR | c.190A= (p.Thr64=)
| |
| 3 | g.172448225del | CA2580069086 | GHSR | c.189del (p.Thr64ProfsTer?)
| ClinVar gnomAD v4 |
| 3 | g.172448225G>A | CA436965545 | GHSR | c.189C>T (p.Leu63=)
| |
| 3 | g.172448225G>C | CA436965543 | GHSR | c.189C>G (p.Leu63=)
| |
| 3 | g.172448225G>T | CA436965544 | GHSR | c.189C>A (p.Leu63=)
| |
