| 15 | g.40471145_40471200del | CA2627823727 | CHST14 | c.-69_-14del (n.-69_-14del)
| gnomAD v4 |
| 15 | g.40471149_40471204del | CA2627823750 | CHST14 | c.-65_-10del (n.-65_-10del)
| gnomAD v4 |
| 15 | g.40471170_40471199del | CA2627823796 | CHST14 | c.-44_-15del (n.-44_-15del)
| gnomAD v4 |
| 15 | g.40471176T>C | CA2627823811 | CHST14 | c.-38T>C (n.-38T>C)
| gnomAD v4 |
| 15 | g.40471177C>A | CA2171794921 | CHST14 | c.-37C>A (n.-37C>A)
| dbSNP gnomAD v4 |
| 15 | g.40471177C= | CA2171794920 | CHST14 | c.-37C= (n.-37C=)
| |
| 15 | g.40471177C>T | CA2627823812 | CHST14 | c.-37C>T (n.-37C>T)
| gnomAD v4 |
| 15 | g.40471178G>A | CA2171794923 | CHST14 | c.-36G>A (n.-36G>A)
| dbSNP gnomAD v4 |
| 15 | g.40471178G= | CA2171794922 | CHST14 | c.-36G= (n.-36G=)
| |
| 15 | g.40471178G>T | CA2627823813 | CHST14 | c.-36G>T (n.-36G>T)
| gnomAD v4 |
| 15 | g.40471179G>A | CA2627823814 | CHST14 | c.-35G>A (n.-35G>A)
| gnomAD v4 |
| 15 | g.40471179G>T | CA2627823815 | CHST14 | c.-35G>T (n.-35G>T)
| gnomAD v4 |
| 15 | g.40471180C>A | CA2627823816 | CHST14 | c.-34C>A (n.-34C>A)
| gnomAD v4 |
| 15 | g.40471180C>T | CA2627823818 | CHST14 | c.-34C>T (n.-34C>T)
| gnomAD v4 |
| 15 | g.40471181C>A | CA2627823819 | CHST14 | c.-33C>A (n.-33C>A)
| gnomAD v4 |
| 15 | g.40471181C= | CA2171794924 | CHST14 | c.-33C= (n.-33C=)
| |
| 15 | g.40471181C>G | CA268822045 | CHST14 | c.-33C>G (n.-33C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471181C>T | CA2627823820 | CHST14 | c.-33C>T (n.-33C>T)
| gnomAD v4 |
| 15 | g.40471182G>A | CA968991613 | CHST14 | c.-32G>A (n.-32G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471182G>C | CA2171794925 | CHST14 | c.-32G>C (n.-32G>C)
| dbSNP gnomAD v4 |
| 15 | g.40471182G= | CA2171794926 | CHST14 | c.-32G= (n.-32G=)
| |
| 15 | g.40471182G>T | CA7481539 | CHST14 | c.-32G>T (n.-32G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471184del | CA2627823821 | CHST14 | c.-30del (n.-30del)
| gnomAD v4 |
| 15 | g.40471183G>A | CA2575679810 | CHST14 | c.-31G>A (n.-31G>A)
| gnomAD v4 |
| 15 | g.40471183G>T | CA2627823822 | CHST14 | c.-31G>T (n.-31G>T)
| gnomAD v4 |
| 15 | g.40471184G>A | CA2171794928 | CHST14 | c.-30G>A (n.-30G>A)
| dbSNP gnomAD v4 |
| 15 | g.40471184G>C | CA2627823824 | CHST14 | c.-30G>C (n.-30G>C)
| gnomAD v4 |
| 15 | g.40471184G= | CA2171794927 | CHST14 | c.-30G= (n.-30G=)
| |
| 15 | g.40471184G>T | CA712753870 | CHST14 | c.-30G>T (n.-30G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471185C>A | CA2627823825 | CHST14 | c.-29C>A (n.-29C>A)
| gnomAD v4 |
| 15 | g.40471185C= | CA2171794929 | CHST14 | c.-29C= (n.-29C=)
| |
| 15 | g.40471185C>T | CA617242836 | CHST14 | c.-29C>T (n.-29C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471186C>A | CA2627823826 | CHST14 | c.-28C>A (n.-28C>A)
| gnomAD v4 |
| 15 | g.40471186C>T | CA2627823827 | CHST14 | c.-28C>T (n.-28C>T)
| gnomAD v4 |
| 15 | g.40471187C>A | CA2627823830 | CHST14 | c.-27C>A (n.-27C>A)
| gnomAD v4 |
| 15 | g.40471187C= | CA2171794930 | CHST14 | c.-27C= (n.-27C=)
| |
| 15 | g.40471187C>G | CA658798303 | CHST14 | c.-27C>G (n.-27C>G)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471187C>T | CA2575679811 | CHST14 | c.-27C>T (n.-27C>T)
| gnomAD v4 |
| 15 | g.40471188del | CA2627823834 | CHST14 | c.-26del (n.-26del)
| gnomAD v4 |
| 15 | g.40471188G>A | CA617242837 | CHST14 | c.-26G>A (n.-26G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471188G= | CA2171794931 | CHST14 | c.-26G= (n.-26G=)
| |
| 15 | g.40471188G>T | CA2627823835 | CHST14 | c.-26G>T (n.-26G>T)
| gnomAD v4 |
| 15 | g.40471189del | CA2627823838 | CHST14 | c.-25del (n.-25del)
| gnomAD v4 |
| 15 | g.40471189C>A | CA617242838 | CHST14 | c.-25C>A (n.-25C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471189C= | CA2171794932 | CHST14 | c.-25C= (n.-25C=)
| |
| 15 | g.40471189C>G | CA2627823836 | CHST14 | c.-25C>G (n.-25C>G)
| gnomAD v4 |
| 15 | g.40471189C>T | CA2591722304 | CHST14 | c.-25C>T (n.-25C>T)
| gnomAD v3 gnomAD v4 |
| 15 | g.40471190G>A | CA2627823839 | CHST14 | c.-24G>A (n.-24G>A)
| gnomAD v4 |
| 15 | g.40471190G>T | CA2627823840 | CHST14 | c.-24G>T (n.-24G>T)
| gnomAD v4 |
| 15 | g.40471191C>A | CA2627823842 | CHST14 | c.-23C>A (n.-23C>A)
| gnomAD v4 |
| 15 | g.40471191C>T | CA2627823844 | CHST14 | c.-23C>T (n.-23C>T)
| gnomAD v4 |
| 15 | g.40471192A>C | CA2627823845 | CHST14 | c.-22A>C (n.-22A>C)
| gnomAD v4 |
| 15 | g.40471192A>G | CA2575679812 | CHST14 | c.-22A>G (n.-22A>G)
| gnomAD v4 |
| 15 | g.40471192A>T | CA2627823846 | CHST14 | c.-22A>T (n.-22A>T)
| gnomAD v4 |
| 15 | g.40471193G>A | CA2627823847 | CHST14 | c.-21G>A (n.-21G>A)
| gnomAD v4 |
| 15 | g.40471193G>T | CA2627823848 | CHST14 | c.-21G>T (n.-21G>T)
| gnomAD v4 |
| 15 | g.40471194G>A | CA2171794934 | CHST14 | c.-20G>A (n.-20G>A)
| dbSNP gnomAD v4 |
| 15 | g.40471194G>C | CA712753886 | CHST14 | c.-20G>C (n.-20G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471194G= | CA2171794933 | CHST14 | c.-20G= (n.-20G=)
| |
| 15 | g.40471194G>T | CA2171794935 | CHST14 | c.-20G>T (n.-20G>T)
| dbSNP gnomAD v4 |
| 15 | g.40471195C>A | CA2627823853 | CHST14 | c.-19C>A (n.-19C>A)
| gnomAD v4 |
| 15 | g.40471195C= | CA2171794936 | CHST14 | c.-19C= (n.-19C=)
| |
| 15 | g.40471195C>G | CA2627823851 | CHST14 | c.-19C>G (n.-19C>G)
| gnomAD v4 |
| 15 | g.40471195C>T | CA617242839 | CHST14 | c.-19C>T (n.-19C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471199del | CA2627823852 | CHST14 | c.-15del (n.-15del)
| gnomAD v4 |
| 15 | g.40471200_40471223dup | CA2627823854 | CHST14 | c.-14_10dup (p.Pro3_Arg4insHisProLeuSerThrMetPhePro)
| gnomAD v4 |
| 15 | g.40471196C>A | CA2627823857 | CHST14 | c.-18C>A (n.-18C>A)
| gnomAD v4 |
| 15 | g.40471197C>A | CA2627823859 | CHST14 | c.-17C>A (n.-17C>A)
| gnomAD v4 |
| 15 | g.40471197C= | CA2171794937 | CHST14 | c.-17C= (n.-17C=)
| |
| 15 | g.40471197C>T | CA268822050 | CHST14 | c.-17C>T (n.-17C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471198C>A | CA2627823860 | CHST14 | c.-16C>A (n.-16C>A)
| gnomAD v4 |
| 15 | g.40471198C>T | CA2627823862 | CHST14 | c.-16C>T (n.-16C>T)
| gnomAD v4 |
| 15 | g.40471199C>A | CA712753894 | CHST14 | c.-15C>A (n.-15C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471199C= | CA2171794938 | CHST14 | c.-15C= (n.-15C=)
| |
| 15 | g.40471199C>G | CA2627823864 | CHST14 | c.-15C>G (n.-15C>G)
| gnomAD v4 |
| 15 | g.40471199C>T | CA2171794939 | CHST14 | c.-15C>T (n.-15C>T)
| dbSNP gnomAD v4 |
| 15 | g.40471200A= | CA2171794940 | CHST14 | c.-14A= (n.-14A=)
| |
| 15 | g.40471200A>C | CA968991628 | CHST14 | c.-14A>C (n.-14A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471200A>G | CA2575679813 | CHST14 | c.-14A>G (n.-14A>G)
| gnomAD v4 |
| 15 | g.40471201C>A | CA268822052 | CHST14 | c.-13C>A (n.-13C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471201C= | CA2171794941 | CHST14 | c.-13C= (n.-13C=)
| |
| 15 | g.40471201C>G | CA2575679814 | CHST14 | c.-13C>G (n.-13C>G)
| |
| 15 | g.40471201C>T | CA968991658 | CHST14 | c.-13C>T (n.-13C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471204del | CA2627823869 | CHST14 | c.-10del (n.-10del)
| gnomAD v4 |
| 15 | g.40471202C>A | CA2627823872 | CHST14 | c.-12C>A (n.-12C>A)
| gnomAD v4 |
| 15 | g.40471202C>T | CA2627823873 | CHST14 | c.-12C>T (n.-12C>T)
| gnomAD v4 |
| 15 | g.40471203C>A | CA2627823874 | CHST14 | c.-11C>A (n.-11C>A)
| gnomAD v4 |
| 15 | g.40471204C>A | CA2627823876 | CHST14 | c.-10C>A (n.-10C>A)
| gnomAD v4 |
| 15 | g.40471204C= | CA2171794942 | CHST14 | c.-10C= (n.-10C=)
| |
| 15 | g.40471204C>G | CA712753896 | CHST14 | c.-10C>G (n.-10C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471205T>C | CA2171794943 | CHST14 | c.-9T>C (n.-9T>C)
| dbSNP gnomAD v4 |
| 15 | g.40471205T>G | CA2575679815 | CHST14 | c.-9T>G (n.-9T>G)
| dbSNP |
| 15 | g.40471205T= | CA2171794944 | CHST14 | c.-9T= (n.-9T=)
| |
| 15 | g.40471206T>A | CA617242843 | CHST14 | c.-8T>A (n.-8T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471206T>C | CA2627823879 | CHST14 | c.-8T>C (n.-8T>C)
| gnomAD v4 |
| 15 | g.40471206T>G | CA2575679816 | CHST14 | c.-8T>G (n.-8T>G)
| |
| 15 | g.40471206T= | CA2171794945 | CHST14 | c.-8T= (n.-8T=)
| |
| 15 | g.40471207G>A | CA2171794947 | CHST14 | c.-7G>A (n.-7G>A)
| dbSNP gnomAD v4 |
| 15 | g.40471207G>C | CA2575679817 | CHST14 | c.-7G>C (n.-7G>C)
| gnomAD v4 |
| 15 | g.40471207G= | CA2171794946 | CHST14 | c.-7G= (n.-7G=)
| |
| 15 | g.40471207G>T | CA2627823881 | CHST14 | c.-7G>T (n.-7G>T)
| gnomAD v4 |
| 15 | g.40471208A>G | CA2627823882 | CHST14 | c.-6A>G (n.-6A>G)
| gnomAD v4 |
| 15 | g.40471209G>A | CA16607775 | CHST14 | c.-5G>A (n.-5G>A)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471209G= | CA2171794948 | CHST14 | c.-5G= (n.-5G=)
| |
| 15 | g.40471209G>T | CA2627823883 | CHST14 | c.-5G>T (n.-5G>T)
| gnomAD v4 |
| 15 | g.40471210C>A | CA2627823885 | CHST14 | c.-4C>A (n.-4C>A)
| gnomAD v4 |
| 15 | g.40471210C= | CA2171794949 | CHST14 | c.-4C= (n.-4C=)
| |
| 15 | g.40471210C>T | CA2171794950 | CHST14 | c.-4C>T (n.-4C>T)
| dbSNP gnomAD v4 |
| 15 | g.40471211A>C | CA2627823890 | CHST14 | c.-3A>C (n.-3A>C)
| gnomAD v4 |
| 15 | g.40471211A>G | CA2627823889 | CHST14 | c.-3A>G (n.-3A>G)
| gnomAD v4 |
| 15 | g.40471211A>T | CA2627823887 | CHST14 | c.-3A>T (n.-3A>T)
| gnomAD v4 |
| 15 | g.40471212C>A | CA2627823892 | CHST14 | c.-2C>A (n.-2C>A)
| gnomAD v4 |
| 15 | g.40471212C= | CA2171794951 | CHST14 | c.-2C= (n.-2C=)
| |
| 15 | g.40471212C>T | CA617242845 | CHST14 | c.-2C>T (n.-2C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471213C>A | CA2627823897 | CHST14 | c.-1C>A (n.-1C>A)
| dbSNP gnomAD v4 |
| 15 | g.40471213C>G | CA2575679818 | CHST14 | c.-1C>G (n.-1C>G)
| |
| 15 | g.40471213C>T | CA2627823898 | CHST14 | c.-1C>T (n.-1C>T)
| gnomAD v4 |
| 15 | g.40471214A= | CA2171794952 | CHST14 | c.1A= (p.Met1=)
| |
| 15 | g.40471214A>C | CA391761718 | CHST14 | c.1A>C (p.Met1Leu)
| |
| 15 | g.40471214A>G | CA391761722 | CHST14 | c.1A>G (p.Met1Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471214A>T | CA391761720 | CHST14 | c.1A>T (p.Met1Leu)
| gnomAD v4 |
| 15 | g.40471215T>A | CA391761725 | CHST14 | c.2T>A (p.Met1Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471215T>C | CA391761727 | CHST14 | c.2T>C (p.Met1Thr)
| ClinVar gnomAD v4 |
| 15 | g.40471215T>G | CA391761726 | CHST14 | c.2T>G (p.Met1Arg)
| |
| 15 | g.40471215T= | CA2171794953 | CHST14 | c.2T= (p.Met1=)
| |
| 15 | g.40471215_40471223del | CA2695219934 | CHST14 | c.2_10del (p.Met1_Arg4delinsSer)
| |
| 15 | g.40471216del | CA2803858064 | CHST14 | c.3del (p.Met1IlefsTer6)
| |
| 15 | g.40471216G>A | CA391761728 | CHST14 | c.3G>A (p.Met1Ile)
| dbSNP gnomAD v4 |
| 15 | g.40471216G>C | CA391761732 | CHST14 | c.3G>C (p.Met1Ile)
| |
| 15 | g.40471216G= | CA2171794954 | CHST14 | c.3G= (p.Met1=)
| |
| 15 | g.40471216G>T | CA391761730 | CHST14 | c.3G>T (p.Met1Ile)
| gnomAD v4 |
| 15 | g.40471217T>A | CA391761734 | CHST14 | c.4T>A (p.Phe2Ile)
| |
| 15 | g.40471217T>C | CA391761736 | CHST14 | c.4T>C (p.Phe2Leu)
| gnomAD v4 |
| 15 | g.40471217T>G | CA391761738 | CHST14 | c.4T>G (p.Phe2Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471218T>A | CA391761740 | CHST14 | c.5T>A (p.Phe2Tyr)
| |
| 15 | g.40471218T>C | CA391761742 | CHST14 | c.5T>C (p.Phe2Ser)
| gnomAD v4 |
| 15 | g.40471218T>G | CA391761743 | CHST14 | c.5T>G (p.Phe2Cys)
| |
| 15 | g.40471218T= | CA2171794955 | CHST14 | c.5T= (p.Phe2=)
| |
| 15 | g.40471219C>A | CA391761745 | CHST14 | c.6C>A (p.Phe2Leu)
| gnomAD v4 |
| 15 | g.40471219C>G | CA391761746 | CHST14 | c.6C>G (p.Phe2Leu)
| |
| 15 | g.40471219C>T | CA489764048 | CHST14 | c.6C>T (p.Phe2=)
| gnomAD v4 |
| 15 | g.40471223dup | CA968991664 | CHST14 | c.10dup (p.Arg4ProfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471223del | CA2627823910 | CHST14 | c.10del (p.Arg4AlafsTer3)
| gnomAD v4 |
| 15 | g.40471220C>A | CA391761749 | CHST14 | c.7C>A (p.Pro3Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471220C= | CA2171794956 | CHST14 | c.7C= (p.Pro3=)
| |
| 15 | g.40471220C>G | CA391761750 | CHST14 | c.7C>G (p.Pro3Ala)
| gnomAD v4 |
| 15 | g.40471220C>T | CA391761751 | CHST14 | c.7C>T (p.Pro3Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471221C>A | CA391761757 | CHST14 | c.8C>A (p.Pro3His)
| gnomAD v4 |
| 15 | g.40471221C= | CA2171794957 | CHST14 | c.8C= (p.Pro3=)
| |
| 15 | g.40471221C>G | CA391761756 | CHST14 | c.8C>G (p.Pro3Arg)
| dbSNP |
| 15 | g.40471221C>T | CA391761754 | CHST14 | c.8C>T (p.Pro3Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471222C>A | CA489764049 | CHST14 | c.9C>A (p.Pro3=)
| gnomAD v4 |
| 15 | g.40471222C= | CA2171794958 | CHST14 | c.9C= (p.Pro3=)
| |
| 15 | g.40471222C>G | CA489764050 | CHST14 | c.9C>G (p.Pro3=)
| |
| 15 | g.40471222C>T | CA489764051 | CHST14 | c.9C>T (p.Pro3=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471223C>A | CA391761760 | CHST14 | c.10C>A (p.Arg4Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471223C= | CA2171794959 | CHST14 | c.10C= (p.Arg4=)
| |
| 15 | g.40471223C>G | CA391761761 | CHST14 | c.10C>G (p.Arg4Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471223C>T | CA391761763 | CHST14 | c.10C>T (p.Arg4Cys)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471224G>A | CA391761765 | CHST14 | c.11G>A (p.Arg4His)
| gnomAD v4 |
| 15 | g.40471224G>C | CA391761767 | CHST14 | c.11G>C (p.Arg4Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471224G= | CA2171794960 | CHST14 | c.11G= (p.Arg4=)
| |
| 15 | g.40471224G>T | CA391761769 | CHST14 | c.11G>T (p.Arg4Leu)
| gnomAD v4 |
| 15 | g.40471225C>A | CA489764052 | CHST14 | c.12C>A (p.Arg4=)
| gnomAD v4 |
| 15 | g.40471225C= | CA2171794961 | CHST14 | c.12C= (p.Arg4=)
| |
| 15 | g.40471225C>G | CA489764053 | CHST14 | c.12C>G (p.Arg4=)
| |
| 15 | g.40471225C>T | CA489764054 | CHST14 | c.12C>T (p.Arg4=)
| dbSNP gnomAD v4 |
| 15 | g.40471227del | CA2627823929 | CHST14 | c.14del (p.Pro5ArgfsTer2)
| gnomAD v4 |
| 15 | g.40471226C>A | CA391761771 | CHST14 | c.13C>A (p.Pro5Thr)
| gnomAD v4 |
| 15 | g.40471226C>G | CA391761773 | CHST14 | c.13C>G (p.Pro5Ala)
| |
| 15 | g.40471226C>T | CA391761775 | CHST14 | c.13C>T (p.Pro5Ser)
| gnomAD v4 |
| 15 | g.40471227C>A | CA391761777 | CHST14 | c.14C>A (p.Pro5Gln)
| gnomAD v4 |
| 15 | g.40471227C= | CA2171794962 | CHST14 | c.14C= (p.Pro5=)
| |
| 15 | g.40471227C>G | CA391761779 | CHST14 | c.14C>G (p.Pro5Arg)
| |
| 15 | g.40471227C>T | CA268822055 | CHST14 | c.14C>T (p.Pro5Leu)
| dbSNP gnomAD v4 |
| 15 | g.40471228del | CA2627823933 | CHST14 | c.15del (p.Leu6Ter)
| gnomAD v4 |
| 15 | g.40471228G>A | CA489764057 | CHST14 | c.15G>A (p.Pro5=)
| gnomAD v4 |
| 15 | g.40471228G>C | CA489764056 | CHST14 | c.15G>C (p.Pro5=)
| gnomAD v4 |
| 15 | g.40471228G>T | CA489764055 | CHST14 | c.15G>T (p.Pro5=)
| gnomAD v4 |
| 15 | g.40471230_40471242del | CA2627823934 | CHST14 | c.17_29del (p.Leu6ArgfsTer13)
| gnomAD v4 |
| 15 | g.40471229C>A | CA391761782 | CHST14 | c.16C>A (p.Leu6Met)
| gnomAD v4 |
| 15 | g.40471229C>G | CA391761784 | CHST14 | c.16C>G (p.Leu6Val)
| |
| 15 | g.40471229C>T | CA489764058 | CHST14 | c.16C>T (p.Leu6=)
| gnomAD v4 |
| 15 | g.40471230T>A | CA391761787 | CHST14 | c.17T>A (p.Leu6Gln)
| gnomAD v4 |
| 15 | g.40471230T>C | CA391761788 | CHST14 | c.17T>C (p.Leu6Pro)
| gnomAD v4 |
| 15 | g.40471230T>G | CA391761789 | CHST14 | c.17T>G (p.Leu6Arg)
| |
| 15 | g.40471231G>A | CA489764059 | CHST14 | c.18G>A (p.Leu6=)
| gnomAD v4 |
| 15 | g.40471231G>C | CA489764060 | CHST14 | c.18G>C (p.Leu6=)
| gnomAD v4 |
| 15 | g.40471231G= | CA2171794963 | CHST14 | c.18G= (p.Leu6=)
| |
| 15 | g.40471231G>T | CA489764061 | CHST14 | c.18G>T (p.Leu6=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471232A>C | CA391761792 | CHST14 | c.19A>C (p.Thr7Pro)
| |
| 15 | g.40471232A>G | CA391761793 | CHST14 | c.19A>G (p.Thr7Ala)
| gnomAD v4 |
| 15 | g.40471232A>T | CA391761795 | CHST14 | c.19A>T (p.Thr7Ser)
| |
| 15 | g.40471233C>A | CA7481540 | CHST14 | c.20C>A (p.Thr7Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471233C= | CA2171794964 | CHST14 | c.20C= (p.Thr7=)
| |
| 15 | g.40471233C>G | CA391761797 | CHST14 | c.20C>G (p.Thr7Ser)
| |
| 15 | g.40471233C>T | CA391761799 | CHST14 | c.20C>T (p.Thr7Ile)
| gnomAD v4 |
| 15 | g.40471236del | CA2627823939 | CHST14 | c.23del (p.Pro8ArgfsTer15)
| gnomAD v4 |
| 15 | g.40471234C>A | CA489764062 | CHST14 | c.21C>A (p.Thr7=)
| gnomAD v4 |
| 15 | g.40471234C= | CA2171794965 | CHST14 | c.21C= (p.Thr7=)
| |
| 15 | g.40471234C>G | CA489764064 | CHST14 | c.21C>G (p.Thr7=)
| |
| 15 | g.40471234C>T | CA489764063 | CHST14 | c.21C>T (p.Thr7=)
| dbSNP gnomAD v4 |
| 15 | g.40471235C>A | CA391761801 | CHST14 | c.22C>A (p.Pro8Thr)
| gnomAD v4 |
| 15 | g.40471235C>G | CA391761802 | CHST14 | c.22C>G (p.Pro8Ala)
| |
| 15 | g.40471235C>T | CA391761804 | CHST14 | c.22C>T (p.Pro8Ser)
| gnomAD v4 |
| 15 | g.40471236C>A | CA391761808 | CHST14 | c.23C>A (p.Pro8Gln)
| gnomAD v4 |
| 15 | g.40471236C= | CA2171794966 | CHST14 | c.23C= (p.Pro8=)
| |
| 15 | g.40471236C>G | CA7481541 | CHST14 | c.23C>G (p.Pro8Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471236C>T | CA391761807 | CHST14 | c.23C>T (p.Pro8Leu)
| ClinVar gnomAD v4 |
| 15 | g.40471237G>A | CA489764065 | CHST14 | c.24G>A (p.Pro8=)
| gnomAD v4 |
| 15 | g.40471237G>C | CA489764066 | CHST14 | c.24G>C (p.Pro8=)
| gnomAD v4 |
| 15 | g.40471237G= | CA2171794967 | CHST14 | c.24G= (p.Pro8=)
| |
| 15 | g.40471237G>T | CA489764067 | CHST14 | c.24G>T (p.Pro8=)
| dbSNP gnomAD v4 |
| 15 | g.40471238C>A | CA391761811 | CHST14 | c.25C>A (p.Leu9Met)
| gnomAD v4 |
| 15 | g.40471238C= | CA2171794968 | CHST14 | c.25C= (p.Leu9=)
| |
| 15 | g.40471238C>G | CA391761813 | CHST14 | c.25C>G (p.Leu9Val)
| gnomAD v4 |
| 15 | g.40471238C>T | CA268822059 | CHST14 | c.25C>T (p.Leu9=)
| dbSNP gnomAD v4 |
| 15 | g.40471239T>A | CA391761815 | CHST14 | c.26T>A (p.Leu9Gln)
| gnomAD v4 |
| 15 | g.40471239T>C | CA391761817 | CHST14 | c.26T>C (p.Leu9Pro)
| gnomAD v4 |
| 15 | g.40471239T>G | CA391761819 | CHST14 | c.26T>G (p.Leu9Arg)
| |
| 15 | g.40471240G>A | CA489764068 | CHST14 | c.27G>A (p.Leu9=)
| gnomAD v4 |
| 15 | g.40471240G>C | CA489764070 | CHST14 | c.27G>C (p.Leu9=)
| |
| 15 | g.40471240G>T | CA489764069 | CHST14 | c.27G>T (p.Leu9=)
| gnomAD v4 |
| 15 | g.40471241G>A | CA391761821 | CHST14 | c.28G>A (p.Ala10Thr)
| gnomAD v4 |
| 15 | g.40471241G>C | CA391761822 | CHST14 | c.28G>C (p.Ala10Pro)
| gnomAD v4 |
| 15 | g.40471241G>T | CA391761824 | CHST14 | c.28G>T (p.Ala10Ser)
| gnomAD v4 |
| 15 | g.40471242C>A | CA391761826 | CHST14 | c.29C>A (p.Ala10Glu)
| gnomAD v4 |
| 15 | g.40471242C= | CA2171794969 | CHST14 | c.29C= (p.Ala10=)
| |
| 15 | g.40471242C>G | CA391761828 | CHST14 | c.29C>G (p.Ala10Gly)
| |
| 15 | g.40471242C>T | CA391761830 | CHST14 | c.29C>T (p.Ala10Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471242dup | CA2627823954 | CHST14 | c.29dup (p.Ala11GlyfsTer?)
| gnomAD v4 |
| 15 | g.40471243G>A | CA489764071 | CHST14 | c.30G>A (p.Ala10=)
| gnomAD v4 |
| 15 | g.40471243G>C | CA489764072 | CHST14 | c.30G>C (p.Ala10=)
| |
| 15 | g.40471243G>T | CA489764073 | CHST14 | c.30G>T (p.Ala10=)
| gnomAD v4 |
| 15 | g.40471244G>A | CA391761835 | CHST14 | c.31G>A (p.Ala11Thr)
| dbSNP gnomAD v4 |
| 15 | g.40471244G>C | CA391761833 | CHST14 | c.31G>C (p.Ala11Pro)
| |
| 15 | g.40471244G= | CA2171794970 | CHST14 | c.31G= (p.Ala11=)
| |
| 15 | g.40471244G>T | CA391761832 | CHST14 | c.31G>T (p.Ala11Ser)
| gnomAD v4 |
| 15 | g.40471244_40471245insGCC | CA2627823960 | CHST14 | c.31_32insGCC (p.Ala11delinsGlyPro)
| gnomAD v4 |
| 15 | g.40471245C>A | CA391761837 | CHST14 | c.32C>A (p.Ala11Asp)
| gnomAD v4 |
| 15 | g.40471245C= | CA2171794971 | CHST14 | c.32C= (p.Ala11=)
| |
| 15 | g.40471245C>G | CA391761840 | CHST14 | c.32C>G (p.Ala11Gly)
| |
| 15 | g.40471245C>T | CA268822060 | CHST14 | c.32C>T (p.Ala11Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471248del | CA2627823958 | CHST14 | c.35del (p.Pro12GlnfsTer11)
| gnomAD v4 |
| 15 | g.40471246C>A | CA489764074 | CHST14 | c.33C>A (p.Ala11=)
| gnomAD v4 |
| 15 | g.40471246C>G | CA489764075 | CHST14 | c.33C>G (p.Ala11=)
| |
| 15 | g.40471246C>T | CA489764076 | CHST14 | c.33C>T (p.Ala11=)
| gnomAD v4 |
| 15 | g.40471247C>A | CA391761843 | CHST14 | c.34C>A (p.Pro12Thr)
| gnomAD v4 |
| 15 | g.40471247C>G | CA391761846 | CHST14 | c.34C>G (p.Pro12Ala)
| |
| 15 | g.40471247C>T | CA391761848 | CHST14 | c.34C>T (p.Pro12Ser)
| ClinVar gnomAD v4 |
| 15 | g.40471248C>A | CA391761851 | CHST14 | c.35C>A (p.Pro12Gln)
| gnomAD v4 |
| 15 | g.40471248C>G | CA391761852 | CHST14 | c.35C>G (p.Pro12Arg)
| gnomAD v4 |
| 15 | g.40471248C>T | CA391761854 | CHST14 | c.35C>T (p.Pro12Leu)
| gnomAD v4 |
| 15 | g.40471249A>C | CA489764079 | CHST14 | c.36A>C (p.Pro12=)
| gnomAD v4 |
| 15 | g.40471249A>G | CA489764077 | CHST14 | c.36A>G (p.Pro12=)
| |
| 15 | g.40471249A>T | CA489764078 | CHST14 | c.36A>T (p.Pro12=)
| |
| 15 | g.40471251del | CA2627823971 | CHST14 | c.38del (p.Asn13MetfsTer10)
| gnomAD v4 |
| 15 | g.40471250A= | CA2171794972 | CHST14 | c.37A= (p.Asn13=)
| |
| 15 | g.40471250A>C | CA391761856 | CHST14 | c.37A>C (p.Asn13His)
| gnomAD v4 |
| 15 | g.40471250A>G | CA391761858 | CHST14 | c.37A>G (p.Asn13Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471250A>T | CA391761860 | CHST14 | c.37A>T (p.Asn13Tyr)
| |
| 15 | g.40471251A>C | CA391761865 | CHST14 | c.38A>C (p.Asn13Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471251A>G | CA391761867 | CHST14 | c.38A>G (p.Asn13Ser)
| gnomAD v4 |
| 15 | g.40471251A>T | CA391761870 | CHST14 | c.38A>T (p.Asn13Ile)
| |
| 15 | g.40471252T>A | CA391761876 | CHST14 | c.39T>A (p.Asn13Lys)
| gnomAD v4 |
| 15 | g.40471252T>C | CA489764080 | CHST14 | c.39T>C (p.Asn13=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471252T>G | CA391761873 | CHST14 | c.39T>G (p.Asn13Lys)
| |
| 15 | g.40471252T= | CA2171794973 | CHST14 | c.39T= (p.Asn13=)
| |
| 15 | g.40471253G>A | CA391761880 | CHST14 | c.40G>A (p.Gly14Ser)
| gnomAD v4 |
| 15 | g.40471253G>C | CA391761881 | CHST14 | c.40G>C (p.Gly14Arg)
| |
| 15 | g.40471253G>T | CA391761883 | CHST14 | c.40G>T (p.Gly14Cys)
| gnomAD v4 |
| 15 | g.40471254G>A | CA391761888 | CHST14 | c.41G>A (p.Gly14Asp)
| gnomAD v4 |
| 15 | g.40471254G>C | CA391761892 | CHST14 | c.41G>C (p.Gly14Ala)
| |
| 15 | g.40471254G>T | CA391761894 | CHST14 | c.41G>T (p.Gly14Val)
| |
| 15 | g.40471255C>A | CA489764081 | CHST14 | c.42C>A (p.Gly14=)
| gnomAD v4 |
| 15 | g.40471255C= | CA2171794974 | CHST14 | c.42C= (p.Gly14=)
| |
| 15 | g.40471255C>G | CA489764082 | CHST14 | c.42C>G (p.Gly14=)
| gnomAD v4 |
| 15 | g.40471255C>T | CA489764083 | CHST14 | c.42C>T (p.Gly14=)
| dbSNP gnomAD v4 |
| 15 | g.40471256G>A | CA391761896 | CHST14 | c.43G>A (p.Ala15Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471256G>C | CA391761898 | CHST14 | c.43G>C (p.Ala15Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471256G= | CA2171794975 | CHST14 | c.43G= (p.Ala15=)
| |
| 15 | g.40471256G>T | CA391761901 | CHST14 | c.43G>T (p.Ala15Ser)
| ClinVar gnomAD v4 |
| 15 | g.40471257C>A | CA391761906 | CHST14 | c.44C>A (p.Ala15Asp)
| |
| 15 | g.40471257C>G | CA391761908 | CHST14 | c.44C>G (p.Ala15Gly)
| |
| 15 | g.40471257C>T | CA391761911 | CHST14 | c.44C>T (p.Ala15Val)
| |
| 15 | g.40471258del | CA2627823985 | CHST14 | c.45del (p.Glu16SerfsTer7)
| gnomAD v4 |
| 15 | g.40471258C>A | CA489764084 | CHST14 | c.45C>A (p.Ala15=)
| gnomAD v4 |
| 15 | g.40471258C= | CA2171794976 | CHST14 | c.45C= (p.Ala15=)
| |
| 15 | g.40471258C>G | CA489764085 | CHST14 | c.45C>G (p.Ala15=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.40471258C>T | CA489764086 | CHST14 | c.45C>T (p.Ala15=)
| gnomAD v4 |
| 15 | g.40471259G>A | CA391761921 | CHST14 | c.46G>A (p.Glu16Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471259G>C | CA391761918 | CHST14 | c.46G>C (p.Glu16Gln)
| dbSNP gnomAD v4 |
| 15 | g.40471259G= | CA2171794977 | CHST14 | c.46G= (p.Glu16=)
| |
| 15 | g.40471259G>T | CA391761915 | CHST14 | c.46G>T (p.Glu16Ter)
| gnomAD v4 |
| 15 | g.40471260A>C | CA391761924 | CHST14 | c.47A>C (p.Glu16Ala)
| gnomAD v4 |
| 15 | g.40471260A>G | CA391761927 | CHST14 | c.47A>G (p.Glu16Gly)
| gnomAD v4 |
| 15 | g.40471260A>T | CA391761930 | CHST14 | c.47A>T (p.Glu16Val)
| |
| 15 | g.40471261G>A | CA7481543 | CHST14 | c.48G>A (p.Glu16=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471261G>C | CA391761938 | CHST14 | c.48G>C (p.Glu16Asp)
| |
| 15 | g.40471261G= | CA2171794978 | CHST14 | c.48G= (p.Glu16=)
| |
| 15 | g.40471261G>T | CA7481542 | CHST14 | c.48G>T (p.Glu16Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471261_40471262delinsGC | CA2171794979 | CHST14 | c.48_49delinsGC (p.Glu16=)
| |
| 15 | g.40471267_40471291del | CA2695219935 | CHST14 | c.54_78del (p.Gly19TrpfsTer19)
| |
| 15 | g.40471262C>A | CA7481544 | CHST14 | c.49C>A (p.Pro17Thr)
| dbSNP ExAC gnomAD v4 |
| 15 | g.40471262C= | CA2171794980 | CHST14 | c.49C= (p.Pro17=)
| |
| 15 | g.40471262C>G | CA391761945 | CHST14 | c.49C>G (p.Pro17Ala)
| |
| 15 | g.40471262C>T | CA391761947 | CHST14 | c.49C>T (p.Pro17Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471265dup | CA2627823991 | CHST14 | c.52dup (p.Leu18ProfsTer?)
| gnomAD v4 |
| 15 | g.40471265del | CA617242854 | CHST14 | c.52del (p.Leu18TrpfsTer5)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471263C>A | CA391761953 | CHST14 | c.50C>A (p.Pro17His)
| |
| 15 | g.40471263C= | CA2171794981 | CHST14 | c.50C= (p.Pro17=)
| |
| 15 | g.40471263C>G | CA391761956 | CHST14 | c.50C>G (p.Pro17Arg)
| |
| 15 | g.40471263C>T | CA391761959 | CHST14 | c.50C>T (p.Pro17Leu)
| dbSNP gnomAD v2 |
| 15 | g.40471264C>A | CA489764087 | CHST14 | c.51C>A (p.Pro17=)
| gnomAD v4 |
| 15 | g.40471264C= | CA2171794982 | CHST14 | c.51C= (p.Pro17=)
| |
| 15 | g.40471264C>G | CA489764088 | CHST14 | c.51C>G (p.Pro17=)
| |
| 15 | g.40471264C>T | CA489764089 | CHST14 | c.51C>T (p.Pro17=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471265C>A | CA391761963 | CHST14 | c.52C>A (p.Leu18Met)
| gnomAD v4 |
| 15 | g.40471265C>G | CA391761965 | CHST14 | c.52C>G (p.Leu18Val)
| |
| 15 | g.40471265C>T | CA489764090 | CHST14 | c.52C>T (p.Leu18=)
| |
| 15 | g.40471266T>A | CA391761971 | CHST14 | c.53T>A (p.Leu18Gln)
| gnomAD v4 |
| 15 | g.40471266T>C | CA391761973 | CHST14 | c.53T>C (p.Leu18Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471266T>G | CA391761972 | CHST14 | c.53T>G (p.Leu18Arg)
| |
| 15 | g.40471266T= | CA2171794983 | CHST14 | c.53T= (p.Leu18=)
| |
| 15 | g.40471267G>A | CA489764091 | CHST14 | c.54G>A (p.Leu18=)
| |
| 15 | g.40471267G>C | CA489764092 | CHST14 | c.54G>C (p.Leu18=)
| |
| 15 | g.40471267G= | CA2171794984 | CHST14 | c.54G= (p.Leu18=)
| |
| 15 | g.40471267G>T | CA489764093 | CHST14 | c.54G>T (p.Leu18=)
| dbSNP gnomAD v4 |
| 15 | g.40471268_40471269del | CA2627823993 | CHST14 | c.55_56del (p.Gly19ProfsTer?)
| gnomAD v4 |
| 15 | g.40471268G>A | CA391761976 | CHST14 | c.55G>A (p.Gly19Ser)
| gnomAD v4 |
| 15 | g.40471268G>C | CA391761979 | CHST14 | c.55G>C (p.Gly19Arg)
| |
| 15 | g.40471268G>T | CA391761982 | CHST14 | c.55G>T (p.Gly19Cys)
| gnomAD v4 |
| 15 | g.40471269G>A | CA391761987 | CHST14 | c.56G>A (p.Gly19Asp)
| gnomAD v4 |
| 15 | g.40471269G>C | CA391761989 | CHST14 | c.56G>C (p.Gly19Ala)
| |
| 15 | g.40471269G>T | CA391761992 | CHST14 | c.56G>T (p.Gly19Val)
| |
| 15 | g.40471270C>A | CA489764096 | CHST14 | c.57C>A (p.Gly19=)
| gnomAD v4 |
| 15 | g.40471270C>G | CA489764094 | CHST14 | c.57C>G (p.Gly19=)
| |
| 15 | g.40471270C>T | CA489764095 | CHST14 | c.57C>T (p.Gly19=)
| gnomAD v4 |
| 15 | g.40471271C>A | CA489764097 | CHST14 | c.58C>A (p.Arg20=)
| gnomAD v4 |
| 15 | g.40471271C= | CA2171794985 | CHST14 | c.58C= (p.Arg20=)
| |
| 15 | g.40471271C>G | CA391761995 | CHST14 | c.58C>G (p.Arg20Gly)
| gnomAD v4 |
| 15 | g.40471271C>T | CA7481545 | CHST14 | c.58C>T (p.Arg20Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40471276_40471287del | CA2627823994 | CHST14 | c.63_74del (p.Leu22_Ala25del)
| gnomAD v4 |
| 15 | g.40471271_40471298delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA | CA2171794986 | CHST14 | c.58_85delinsCGGGCGCTGAGGCGGGCCCCTCTGGGCA (p.Arg20=)
| |
| 15 | g.40471272G>A | CA391761999 | CHST14 | c.59G>A (p.Arg20Gln)
| gnomAD v4 |
| 15 | g.40471272G>C | CA391762001 | CHST14 | c.59G>C (p.Arg20Pro)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471272G= | CA2171794987 | CHST14 | c.59G= (p.Arg20=)
| |
| 15 | g.40471272G>T | CA391762003 | CHST14 | c.59G>T (p.Arg20Leu)
| gnomAD v4 |
| 15 | g.40471276_40471302del | CA2171794988 | CHST14 | c.63_89del (p.Leu22_Ala30del)
| dbSNP gnomAD v4 |
| 15 | g.40471273G>A | CA489764098 | CHST14 | c.60G>A (p.Arg20=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.40471273G>C | CA489764099 | CHST14 | c.60G>C (p.Arg20=)
| |
| 15 | g.40471273G= | CA2171794989 | CHST14 | c.60G= (p.Arg20=)
| |
| 15 | g.40471273G>T | CA489764100 | CHST14 | c.60G>T (p.Arg20=)
| |
| 15 | g.40471274G>A | CA391762011 | CHST14 | c.61G>A (p.Ala21Thr)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.40471274G>C | CA391762009 | CHST14 | c.61G>C (p.Ala21Pro)
| |
| 15 | g.40471274G= | CA2171794990 | CHST14 | c.61G= (p.Ala21=)
| |
| 15 | g.40471274G>T | CA391762007 | CHST14 | c.61G>T (p.Ala21Ser)
| ClinVar gnomAD v4 |
| 15 | g.40471275C>A | CA391762014 | CHST14 | c.62C>A (p.Ala21Glu)
| gnomAD v4 |
| 15 | g.40471275C>G | CA391762012 | CHST14 | c.62C>G (p.Ala21Gly)
| |
| 15 | g.40471275C>T | CA391762016 | CHST14 | c.62C>T (p.Ala21Val)
| gnomAD v4 |
| 15 | g.40471276G>A | CA489764102 | CHST14 | c.63G>A (p.Ala21=)
| gnomAD v4 |
| 15 | g.40471276G>C | CA489764101 | CHST14 | c.63G>C (p.Ala21=)
| |
| 15 | g.40471276G>T | CA489764103 | CHST14 | c.63G>T (p.Ala21=)
| gnomAD v4 |
