3 | g.122254138G>A | CA2667223205 | CASR | c.-52G>A (n.-52G>A)
| gnomAD v4 |
3 | g.122254139C>A | CA2667223208 | CASR | c.-51C>A (n.-51C>A)
| gnomAD v4 |
3 | g.122254139C= | CA1397855726 | CASR | c.-51C= (n.-51C=)
| |
3 | g.122254139C>T | CA2569392 | CASR | c.-51C>T (n.-51C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254140C= | CA1397855730 | CASR | c.-50C= (n.-50C=)
| |
3 | g.122254140C>T | CA1397855732 | CASR | c.-50C>T (n.-50C>T)
| dbSNP |
3 | g.122254141T>A | CA2577869951 | CASR | c.-49T>A (n.-49T>A)
| gnomAD v4 |
3 | g.122254141T>C | CA2569393 | CASR | c.-49T>C (n.-49T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254141T= | CA1397855733 | CASR | c.-49T= (n.-49T=)
| |
3 | g.122254142C>T | CA2577869952 | CASR | c.-48C>T (n.-48C>T)
| |
3 | g.122254146A>G | CA2667223216 | CASR | c.-44A>G (n.-44A>G)
| gnomAD v4 |
3 | g.122254147C>A | CA2667223219 | CASR | c.-43C>A (n.-43C>A)
| gnomAD v4 |
3 | g.122254148T>C | CA2667223221 | CASR | c.-42T>C (n.-42T>C)
| gnomAD v4 |
3 | g.122254151T>C | CA2577869953 | CASR | c.-39T>C (n.-39T>C)
| gnomAD v4 |
3 | g.122254151T>G | CA2667223222 | CASR | c.-39T>G (n.-39T>G)
| gnomAD v4 |
3 | g.122254152A= | CA1397855736 | CASR | c.-38A= (n.-38A=)
| |
3 | g.122254152A>T | CA545959007 | CASR | c.-38A>T (n.-38A>T)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254153G>C | CA2569395 | CASR | c.-37G>C (n.-37G>C)
| dbSNP ExAC gnomAD v4 |
3 | g.122254153G= | CA1397855739 | CASR | c.-37G= (n.-37G=)
| |
3 | g.122254153G>T | CA2569394 | CASR | c.-37G>T (n.-37G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254154C>T | CA2577869954 | CASR | c.-36C>T (n.-36C>T)
| |
3 | g.122254156G>A | CA1397855740 | CASR | c.-34G>A (n.-34G>A)
| dbSNP gnomAD v4 |
3 | g.122254156G>C | CA1397855741 | CASR | c.-34G>C (n.-34G>C)
| dbSNP gnomAD v4 |
3 | g.122254156G= | CA1397855743 | CASR | c.-34G= (n.-34G=)
| |
3 | g.122254157T>C | CA898080181 | CASR | c.-33T>C (n.-33T>C)
| dbSNP |
3 | g.122254157T= | CA1397855744 | CASR | c.-33T= (n.-33T=)
| |
3 | g.122254158C= | CA1397855745 | CASR | c.-32C= (n.-32C=)
| |
3 | g.122254158C>G | CA82607339 | CASR | c.-32C>G (n.-32C>G)
| dbSNP gnomAD v4 |
3 | g.122254161A>C | CA2667223231 | CASR | c.-29A>C (n.-29A>C)
| gnomAD v4 |
3 | g.122254162T>A | CA2569397 | CASR | c.-28T>A (n.-28T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254162T>C | CA1397855751 | CASR | c.-28T>C (n.-28T>C)
| dbSNP |
3 | g.122254162T>G | CA2569396 | CASR | c.-28T>G (n.-28T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254162T= | CA1397855750 | CASR | c.-28T= (n.-28T=)
| |
3 | g.122254163C>A | CA2569398 | CASR | c.-27C>A (n.-27C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254163C= | CA1397855753 | CASR | c.-27C= (n.-27C=)
| |
3 | g.122254163C>T | CA2667223236 | CASR | c.-27C>T (n.-27C>T)
| gnomAD v4 |
3 | g.122254164C= | CA1397855756 | CASR | c.-26C= (n.-26C=)
| |
3 | g.122254164C>T | CA1397855755 | CASR | c.-26C>T (n.-26C>T)
| dbSNP gnomAD v4 |
3 | g.122254165C= | CA1397855758 | CASR | c.-25C= (n.-25C=)
| |
3 | g.122254165C>T | CA545959008 | CASR | c.-25C>T (n.-25C>T)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254165_122254181del | CA2667223241 | CASR | c.-25_-9del (n.-25_-9del)
| gnomAD v4 |
3 | g.122254166T>C | CA2667223245 | CASR | c.-24T>C (n.-24T>C)
| gnomAD v4 |
3 | g.122254169C= | CA1397855760 | CASR | c.-21C= (n.-21C=)
| |
3 | g.122254169C>T | CA82607354 | CASR | c.-21C>T (n.-21C>T)
| dbSNP gnomAD v4 |
3 | g.122254171del | CA2577869955 | CASR | c.-19del (n.-19del)
| |
3 | g.122254172T>C | CA2569399 | CASR | c.-18T>C (n.-18T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254172T= | CA1397855763 | CASR | c.-18T= (n.-18T=)
| |
3 | g.122254173G>A | CA2667223249 | CASR | c.-17G>A (n.-17G>A)
| gnomAD v4 |
3 | g.122254173G= | CA1397855765 | CASR | c.-17G= (n.-17G=)
| |
3 | g.122254173G>T | CA545959009 | CASR | c.-17G>T (n.-17G>T)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254174G>A | CA545959010 | CASR | c.-16G>A (n.-16G>A)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254174G= | CA1397855767 | CASR | c.-16G= (n.-16G=)
| |
3 | g.122254176G>A | CA1397855770 | CASR | c.-14G>A (n.-14G>A)
| dbSNP |
3 | g.122254176G= | CA1397855768 | CASR | c.-14G= (n.-14G=)
| |
3 | g.122254176G>T | CA82607384 | CASR | c.-14G>T (n.-14G>T)
| dbSNP gnomAD v4 |
3 | g.122254178G>A | CA2758180176 | CASR | c.-12G>A (n.-12G>A)
| |
3 | g.122254180C>A | CA2566806922 | CASR | c.-10C>A (n.-10C>A)
| |
3 | g.122254180C= | CA1397855773 | CASR | c.-10C= (n.-10C=)
| |
3 | g.122254180C>G | CA1397855777 | CASR | c.-10C>G (n.-10C>G)
| dbSNP |
3 | g.122254180C>T | CA2569400 | CASR | c.-10C>T (n.-10C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254181G>A | CA2569401 | CASR | c.-9G>A (n.-9G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254181G= | CA1397855779 | CASR | c.-9G= (n.-9G=)
| |
3 | g.122254182del | CA2577869956 | CASR | c.-8del (n.-8del)
| |
3 | g.122254184A>G | CA2667223266 | CASR | c.-6A>G (n.-6A>G)
| gnomAD v4 |
3 | g.122254187A>C | CA2667223268 | CASR | c.-3A>C (n.-3A>C)
| gnomAD v4 |
3 | g.122254188C>A | CA2667223291 | CASR | c.-2C>A (n.-2C>A)
| dbSNP gnomAD v4 |
3 | g.122254188C= | CA1397855783 | CASR | c.-2C= (n.-2C=)
| |
3 | g.122254188C>T | CA2569402 | CASR | c.-2C>T (n.-2C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254189C>T | CA2667223297 | CASR | c.-1C>T (n.-1C>T)
| gnomAD v4 |
3 | g.122254190A>C | CA354361909 | CASR | c.1A>C (p.Met1Leu)
| ClinVar |
3 | g.122254190A>G | CA354361910 | CASR | c.1A>G (p.Met1Val)
| ClinVar dbSNP |
3 | g.122254190A>T | CA354361911 | CASR | c.1A>T (p.Met1Leu)
| |
3 | g.122254191T>A | CA354361912 | CASR | c.2T>A (p.Met1Lys)
| |
3 | g.122254191T>C | CA354361913 | CASR | c.2T>C (p.Met1Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122254191T>G | CA354361914 | CASR | c.2T>G (p.Met1Arg)
| ClinVar |
3 | g.122254191T= | CA1397855785 | CASR | c.2T= (p.Met1=)
| |
3 | g.122254192G>A | CA354361917 | CASR | c.3G>A (p.Met1Ile)
| |
3 | g.122254192G>C | CA354361916 | CASR | c.3G>C (p.Met1Ile)
| |
3 | g.122254192G>T | CA354361915 | CASR | c.3G>T (p.Met1Ile)
| |
3 | g.122254193G>A | CA354361918 | CASR | c.4G>A (p.Ala2Thr)
| |
3 | g.122254193G>C | CA354361919 | CASR | c.4G>C (p.Ala2Pro)
| |
3 | g.122254193G>T | CA354361920 | CASR | c.4G>T (p.Ala2Ser)
| |
3 | g.122254194C>A | CA354361921 | CASR | c.5C>A (p.Ala2Glu)
| dbSNP gnomAD v4 COSMIC |
3 | g.122254194C= | CA1397855790 | CASR | c.5C= (p.Ala2=)
| |
3 | g.122254194C>G | CA354361922 | CASR | c.5C>G (p.Ala2Gly)
| |
3 | g.122254194C>T | CA354361923 | CASR | c.5C>T (p.Ala2Val)
| |
3 | g.122254195A= | CA1397855793 | CASR | c.6A= (p.Ala2=)
| |
3 | g.122254195A>C | CA2569403 | CASR | c.6A>C (p.Ala2=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254195A>G | CA435403806 | CASR | c.6A>G (p.Ala2=)
| |
3 | g.122254195A>T | CA435403805 | CASR | c.6A>T (p.Ala2=)
| |
3 | g.122254196T>A | CA354361924 | CASR | c.7T>A (p.Phe3Ile)
| |
3 | g.122254196T>C | CA354361925 | CASR | c.7T>C (p.Phe3Leu)
| |
3 | g.122254196T>G | CA354361926 | CASR | c.7T>G (p.Phe3Val)
| |
3 | g.122254197T>A | CA354361927 | CASR | c.8T>A (p.Phe3Tyr)
| |
3 | g.122254197T>C | CA354361928 | CASR | c.8T>C (p.Phe3Ser)
| |
3 | g.122254197T>G | CA354361929 | CASR | c.8T>G (p.Phe3Cys)
| |
3 | g.122254198T>A | CA354361931 | CASR | c.9T>A (p.Phe3Leu)
| |
3 | g.122254198T>C | CA82607409 | CASR | c.9T>C (p.Phe3=)
| dbSNP gnomAD v4 |
3 | g.122254198T>G | CA354361930 | CASR | c.9T>G (p.Phe3Leu)
| ClinVar dbSNP |
3 | g.122254198T= | CA1397855800 | CASR | c.9T= (p.Phe3=)
| |
3 | g.122254199T>A | CA354361934 | CASR | c.10T>A (p.Tyr4Asn)
| |
3 | g.122254199T>C | CA354361932 | CASR | c.10T>C (p.Tyr4His)
| ClinVar dbSNP |
3 | g.122254199T>G | CA354361933 | CASR | c.10T>G (p.Tyr4Asp)
| |
3 | g.122254199T= | CA1397855806 | CASR | c.10T= (p.Tyr4=)
| |
3 | g.122254200A= | CA1397855812 | CASR | c.11A= (p.Tyr4=)
| |
3 | g.122254200A>C | CA354361935 | CASR | c.11A>C (p.Tyr4Ser)
| |
3 | g.122254200A>G | CA354361936 | CASR | c.11A>G (p.Tyr4Cys)
| ClinVar dbSNP gnomAD v4 |
3 | g.122254200A>T | CA354361937 | CASR | c.11A>T (p.Tyr4Phe)
| |
3 | g.122254201T>A | CA354361938 | CASR | c.12T>A (p.Tyr4Ter)
| |
3 | g.122254201T>C | CA435403807 | CASR | c.12T>C (p.Tyr4=)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254201T>G | CA354361939 | CASR | c.12T>G (p.Tyr4Ter)
| |
3 | g.122254201T= | CA1397855818 | CASR | c.12T= (p.Tyr4=)
| |
3 | g.122254202A= | CA1397855824 | CASR | c.13A= (p.Ser5=)
| |
3 | g.122254202A>C | CA354361940 | CASR | c.13A>C (p.Ser5Arg)
| |
3 | g.122254202A>G | CA354361941 | CASR | c.13A>G (p.Ser5Gly)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.122254202A>T | CA354361942 | CASR | c.13A>T (p.Ser5Cys)
| |
3 | g.122254203G>A | CA354361943 | CASR | c.14G>A (p.Ser5Asn)
| |
3 | g.122254203G>C | CA354361944 | CASR | c.14G>C (p.Ser5Thr)
| gnomAD v4 |
3 | g.122254203G>T | CA354361945 | CASR | c.14G>T (p.Ser5Ile)
| |
3 | g.122254204C>A | CA354361947 | CASR | c.15C>A (p.Ser5Arg)
| COSMIC |
3 | g.122254204C>G | CA354361946 | CASR | c.15C>G (p.Ser5Arg)
| ClinVar gnomAD v4 |
3 | g.122254204C>T | CA435403808 | CASR | c.15C>T (p.Ser5=)
| gnomAD v4 |
3 | g.122254204_122254205delinsGG | CA2740094553 | CASR | c.15_16delinsGG (p.Ser5_Cys6delinsArgGly)
| ClinVar |
3 | g.122254205T>A | CA354361948 | CASR | c.16T>A (p.Cys6Ser)
| gnomAD v4 |
3 | g.122254205T>C | CA354361949 | CASR | c.16T>C (p.Cys6Arg)
| COSMIC |
3 | g.122254205T>G | CA354361950 | CASR | c.16T>G (p.Cys6Gly)
| ClinVar dbSNP gnomAD v4 |
3 | g.122254205T= | CA1397855827 | CASR | c.16T= (p.Cys6=)
| |
3 | g.122254206G>A | CA354361951 | CASR | c.17G>A (p.Cys6Tyr)
| |
3 | g.122254206G>C | CA354361952 | CASR | c.17G>C (p.Cys6Ser)
| |
3 | g.122254206G>T | CA354361953 | CASR | c.17G>T (p.Cys6Phe)
| |
3 | g.122254207C>A | CA354361954 | CASR | c.18C>A (p.Cys6Ter)
| COSMIC |
3 | g.122254207C>G | CA354361955 | CASR | c.18C>G (p.Cys6Trp)
| |
3 | g.122254207C>T | CA435403809 | CASR | c.18C>T (p.Cys6=)
| |
3 | g.122254208T>A | CA354361956 | CASR | c.19T>A (p.Cys7Ser)
| |
3 | g.122254208T>C | CA354361957 | CASR | c.19T>C (p.Cys7Arg)
| |
3 | g.122254208T>G | CA354361958 | CASR | c.19T>G (p.Cys7Gly)
| |
3 | g.122254208dup | CA2586972835 | CASR | c.19dup (p.Cys7LeufsTer?)
| |
3 | g.122254209G>A | CA354361959 | CASR | c.20G>A (p.Cys7Tyr)
| ClinVar dbSNP gnomAD v4 |
3 | g.122254209G>C | CA354361960 | CASR | c.20G>C (p.Cys7Ser)
| ClinVar dbSNP gnomAD v4 |
3 | g.122254209G= | CA1397855840 | CASR | c.20G= (p.Cys7=)
| |
3 | g.122254209G>T | CA354361961 | CASR | c.20G>T (p.Cys7Phe)
| ClinVar dbSNP gnomAD v4 |
3 | g.122254210C>A | CA354361962 | CASR | c.21C>A (p.Cys7Ter)
| |
3 | g.122254210C= | CA1397855844 | CASR | c.21C= (p.Cys7=)
| |
3 | g.122254210C>G | CA354361963 | CASR | c.21C>G (p.Cys7Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254210C>T | CA435403810 | CASR | c.21C>T (p.Cys7=)
| ClinVar dbSNP |
3 | g.122254211T>A | CA354361964 | CASR | c.22T>A (p.Trp8Arg)
| |
3 | g.122254211T>C | CA354361966 | CASR | c.22T>C (p.Trp8Arg)
| |
3 | g.122254211T>G | CA354361965 | CASR | c.22T>G (p.Trp8Gly)
| |
3 | g.122254212G>A | CA354361967 | CASR | c.23G>A (p.Trp8Ter)
| |
3 | g.122254212G>C | CA354361968 | CASR | c.23G>C (p.Trp8Ser)
| |
3 | g.122254212G>T | CA354361969 | CASR | c.23G>T (p.Trp8Leu)
| |
3 | g.122254213G>A | CA354361970 | CASR | c.24G>A (p.Trp8Ter)
| |
3 | g.122254213G>C | CA354361971 | CASR | c.24G>C (p.Trp8Cys)
| |
3 | g.122254213G>T | CA354361972 | CASR | c.24G>T (p.Trp8Cys)
| |
3 | g.122254214G>A | CA354361973 | CASR | c.25G>A (p.Val9Ile)
| gnomAD v4 COSMIC |
3 | g.122254214G>C | CA354361974 | CASR | c.25G>C (p.Val9Leu)
| |
3 | g.122254214G= | CA1397855846 | CASR | c.25G= (p.Val9=)
| |
3 | g.122254214G>T | CA354361975 | CASR | c.25G>T (p.Val9Phe)
| ClinVar dbSNP gnomAD v4 |
3 | g.122254215T>A | CA354361976 | CASR | c.26T>A (p.Val9Asp)
| ClinVar |
3 | g.122254215T>C | CA354361977 | CASR | c.26T>C (p.Val9Ala)
| |
3 | g.122254215T>G | CA354361978 | CASR | c.26T>G (p.Val9Gly)
| |
3 | g.122254216C>A | CA435403811 | CASR | c.27C>A (p.Val9=)
| |
3 | g.122254216C= | CA1397855850 | CASR | c.27C= (p.Val9=)
| |
3 | g.122254216C>G | CA435403812 | CASR | c.27C>G (p.Val9=)
| |
3 | g.122254216C>T | CA2569404 | CASR | c.27C>T (p.Val9=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254217C>A | CA354361979 | CASR | c.28C>A (p.Leu10Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122254217C= | CA1397855855 | CASR | c.28C= (p.Leu10=)
| |
3 | g.122254217C>G | CA354361980 | CASR | c.28C>G (p.Leu10Val)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254217C>T | CA354361981 | CASR | c.28C>T (p.Leu10Phe)
| ClinVar dbSNP gnomAD v4 |
3 | g.122254218T>A | CA354361982 | CASR | c.29T>A (p.Leu10His)
| |
3 | g.122254218T>C | CA354361983 | CASR | c.29T>C (p.Leu10Pro)
| |
3 | g.122254218T>G | CA354361984 | CASR | c.29T>G (p.Leu10Arg)
| |
3 | g.122254219C>A | CA435403813 | CASR | c.30C>A (p.Leu10=)
| |
3 | g.122254219C>G | CA435403814 | CASR | c.30C>G (p.Leu10=)
| |
3 | g.122254219C>T | CA435403815 | CASR | c.30C>T (p.Leu10=)
| |
3 | g.122254220T>A | CA354361985 | CASR | c.31T>A (p.Leu11Met)
| |
3 | g.122254220T>C | CA435403816 | CASR | c.31T>C (p.Leu11=)
| |
3 | g.122254220T>G | CA354361986 | CASR | c.31T>G (p.Leu11Val)
| |
3 | g.122254221T>A | CA354361987 | CASR | c.32T>A (p.Leu11Ter)
| |
3 | g.122254221T>C | CA2569405 | CASR | c.32T>C (p.Leu11Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254221T>G | CA354361988 | CASR | c.32T>G (p.Leu11Trp)
| |
3 | g.122254221T= | CA1397855864 | CASR | c.32T= (p.Leu11=)
| |
3 | g.122254222G>A | CA435403817 | CASR | c.33G>A (p.Leu11=)
| ClinVar dbSNP gnomAD v2 |
3 | g.122254222G>C | CA354361990 | CASR | c.33G>C (p.Leu11Phe)
| |
3 | g.122254222G= | CA1397855871 | CASR | c.33G= (p.Leu11=)
| |
3 | g.122254222G>T | CA354361991 | CASR | c.33G>T (p.Leu11Phe)
| gnomAD v4 |
3 | g.122254223G>A | CA354361992 | CASR | c.34G>A (p.Ala12Thr)
| |
3 | g.122254223G>C | CA354361994 | CASR | c.34G>C (p.Ala12Pro)
| gnomAD v4 |
3 | g.122254223G>T | CA354361993 | CASR | c.34G>T (p.Ala12Ser)
| |
3 | g.122254224C>A | CA354361995 | CASR | c.35C>A (p.Ala12Glu)
| |
3 | g.122254224C>G | CA354361996 | CASR | c.35C>G (p.Ala12Gly)
| |
3 | g.122254224C>T | CA354361997 | CASR | c.35C>T (p.Ala12Val)
| |
3 | g.122254224_122254225insTTTT | CA2758180186 | CASR | c.35_36insTTTT (p.Leu13PhefsTer?)
| |
3 | g.122254225A= | CA1397855875 | CASR | c.36A= (p.Ala12=)
| |
3 | g.122254225A>C | CA435403818 | CASR | c.36A>C (p.Ala12=)
| dbSNP |
3 | g.122254225A>G | CA435403819 | CASR | c.36A>G (p.Ala12=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254225A>T | CA435403820 | CASR | c.36A>T (p.Ala12=)
| |
3 | g.122254226C>A | CA354361998 | CASR | c.37C>A (p.Leu13Ile)
| |
3 | g.122254226C= | CA1397855879 | CASR | c.37C= (p.Leu13=)
| |
3 | g.122254226C>G | CA354361999 | CASR | c.37C>G (p.Leu13Val)
| dbSNP |
3 | g.122254226C>T | CA82607426 | CASR | c.37C>T (p.Leu13Phe)
| dbSNP gnomAD v4 |
3 | g.122254227T>A | CA354362001 | CASR | c.38T>A (p.Leu13His)
| |
3 | g.122254227T>C | CA119539 | CASR | c.38T>C (p.Leu13Pro)
| ClinVar dbSNP |
3 | g.122254227T>G | CA354362000 | CASR | c.38T>G (p.Leu13Arg)
| |
3 | g.122254227T= | CA1397855882 | CASR | c.38T= (p.Leu13=)
| |
3 | g.122254228del | CA2758180187 | CASR | c.39del (p.Thr14ProfsTer?)
| |
3 | g.122254228C>A | CA435403821 | CASR | c.39C>A (p.Leu13=)
| |
3 | g.122254228C>G | CA435403823 | CASR | c.39C>G (p.Leu13=)
| |
3 | g.122254228C>T | CA435403822 | CASR | c.39C>T (p.Leu13=)
| gnomAD v4 |
3 | g.122254231_122254237del | CA2740094554 | CASR | c.42_48del (p.Trp15ProfsTer28)
| ClinVar |
3 | g.122254229A= | CA1397855886 | CASR | c.40A= (p.Thr14=)
| |
3 | g.122254229A>C | CA354362002 | CASR | c.40A>C (p.Thr14Pro)
| |
3 | g.122254229A>G | CA2569406 | CASR | c.40A>G (p.Thr14Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122254229A>T | CA354362003 | CASR | c.40A>T (p.Thr14Ser)
| |
3 | g.122254230C>A | CA354362004 | CASR | c.41C>A (p.Thr14Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122254230C= | CA1397855893 | CASR | c.41C= (p.Thr14=)
| |
3 | g.122254230C>G | CA354362005 | CASR | c.41C>G (p.Thr14Ser)
| |
3 | g.122254230C>T | CA354362006 | CASR | c.41C>T (p.Thr14Ile)
| ClinVar dbSNP |
3 | g.122254231C>A | CA435403824 | CASR | c.42C>A (p.Thr14=)
| |
3 | g.122254231C>G | CA435403826 | CASR | c.42C>G (p.Thr14=)
| |
3 | g.122254231C>T | CA435403825 | CASR | c.42C>T (p.Thr14=)
| ClinVar dbSNP |
3 | g.122254232T>A | CA354362007 | CASR | c.43T>A (p.Trp15Arg)
| |
3 | g.122254232T>C | CA354362009 | CASR | c.43T>C (p.Trp15Arg)
| |
3 | g.122254232T>G | CA354362008 | CASR | c.43T>G (p.Trp15Gly)
| |
3 | g.122254233G>A | CA354362010 | CASR | c.44G>A (p.Trp15Ter)
| |
3 | g.122254233G>C | CA354362011 | CASR | c.44G>C (p.Trp15Ser)
| |
3 | g.122254233G>T | CA354362012 | CASR | c.44G>T (p.Trp15Leu)
| |
3 | g.122254234G>A | CA354362013 | CASR | c.45G>A (p.Trp15Ter)
| gnomAD v4 COSMIC |
3 | g.122254234G>C | CA354362014 | CASR | c.45G>C (p.Trp15Cys)
| |
3 | g.122254234G>T | CA354362015 | CASR | c.45G>T (p.Trp15Cys)
| |
3 | g.122254235C>A | CA354362016 | CASR | c.46C>A (p.His16Asn)
| |
3 | g.122254235C= | CA1397855896 | CASR | c.46C= (p.His16=)
| |
3 | g.122254235C>G | CA354362017 | CASR | c.46C>G (p.His16Asp)
| gnomAD v4 |
3 | g.122254235C>T | CA2569407 | CASR | c.46C>T (p.His16Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254236A>C | CA354362018 | CASR | c.47A>C (p.His16Pro)
| |
3 | g.122254236A>G | CA354362019 | CASR | c.47A>G (p.His16Arg)
| gnomAD v4 |
3 | g.122254236A>T | CA354362020 | CASR | c.47A>T (p.His16Leu)
| |
3 | g.122254237C>A | CA354362021 | CASR | c.48C>A (p.His16Gln)
| |
3 | g.122254237C= | CA1397855898 | CASR | c.48C= (p.His16=)
| |
3 | g.122254237C>G | CA354362022 | CASR | c.48C>G (p.His16Gln)
| |
3 | g.122254237C>T | CA2569408 | CASR | c.48C>T (p.His16=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122254238A>C | CA354362023 | CASR | c.49A>C (p.Thr17Pro)
| |
3 | g.122254238A>G | CA354362024 | CASR | c.49A>G (p.Thr17Ala)
| |
3 | g.122254238A>T | CA354362025 | CASR | c.49A>T (p.Thr17Ser)
| |