Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31816940A>C | CA363415714 | HSPA1A,HSPA1L | c.1184A>C (p.Asp395Ala) c.689A>C (p.Asp230Ala) c.-14+4073T>G (n.-14+4073T>G) | |
6 | g.31816940A>G | CA363415707 | HSPA1A,HSPA1L | c.1184A>G (p.Asp395Gly) c.689A>G (p.Asp230Gly) c.-14+4073T>C (n.-14+4073T>C) | |
6 | g.31816940A>T | CA363415710 | HSPA1A,HSPA1L | c.1184A>T (p.Asp395Val) c.689A>T (p.Asp230Val) c.-14+4073T>A (n.-14+4073T>A) | |
6 | g.31816941C>A | CA363415717 | HSPA1A,HSPA1L | c.1185C>A (p.Asp395Glu) c.690C>A (p.Asp230Glu) c.-14+4072G>T (n.-14+4072G>T) | |
6 | g.31816941C>G | CA363415719 | HSPA1A,HSPA1L | c.1185C>G (p.Asp395Glu) c.690C>G (p.Asp230Glu) c.-14+4072G>C (n.-14+4072G>C) | |
6 | g.31816941C>T | CA449806010 | HSPA1A,HSPA1L | c.1185C>T (p.Asp395=) c.690C>T (p.Asp230=) c.-14+4072G>A (n.-14+4072G>A) | |
6 | g.31816942G>A | CA363415724 | HSPA1A,HSPA1L | c.1186G>A (p.Val396Met) c.691G>A (p.Val231Met) c.-14+4071C>T (n.-14+4071C>T) | |
6 | g.31816942G>C | CA363415727 | HSPA1A,HSPA1L | c.1186G>C (p.Val396Leu) c.691G>C (p.Val231Leu) c.-14+4071C>G (n.-14+4071C>G) | |
6 | g.31816942G>T | CA363415730 | HSPA1A,HSPA1L | c.1186G>T (p.Val396Leu) c.691G>T (p.Val231Leu) c.-14+4071C>A (n.-14+4071C>A) | |
6 | g.31816943T>A | CA363415734 | HSPA1A,HSPA1L | c.1187T>A (p.Val396Glu) c.692T>A (p.Val231Glu) c.-14+4070A>T (n.-14+4070A>T) | |
6 | g.31816943T>C | CA363415737 | HSPA1A,HSPA1L | c.1187T>C (p.Val396Ala) c.692T>C (p.Val231Ala) c.-14+4070A>G (n.-14+4070A>G) | |
6 | g.31816943T>G | CA363415744 | HSPA1A,HSPA1L | c.1187T>G (p.Val396Gly) c.692T>G (p.Val231Gly) c.-14+4070A>C (n.-14+4070A>C) | |
6 | g.31816944G>A | CA449806014 | HSPA1A,HSPA1L | c.1188G>A (p.Val396=) c.693G>A (p.Val231=) c.-14+4069C>T (n.-14+4069C>T) | |
6 | g.31816944G>C | CA449806018 | HSPA1A,HSPA1L | c.1188G>C (p.Val396=) c.693G>C (p.Val231=) c.-14+4069C>G (n.-14+4069C>G) | |
6 | g.31816944G>T | CA449806020 | HSPA1A,HSPA1L | c.1188G>T (p.Val396=) c.693G>T (p.Val231=) c.-14+4069C>A (n.-14+4069C>A) | |
6 | g.31816945G>A | CA363415747 | HSPA1A,HSPA1L | c.1189G>A (p.Ala397Thr) c.694G>A (p.Ala232Thr) c.-14+4068C>T (n.-14+4068C>T) | |
6 | g.31816945G>C | CA363415750 | HSPA1A,HSPA1L | c.1189G>C (p.Ala397Pro) c.694G>C (p.Ala232Pro) c.-14+4068C>G (n.-14+4068C>G) | |
6 | g.31816945G>T | CA363415754 | HSPA1A,HSPA1L | c.1189G>T (p.Ala397Ser) c.694G>T (p.Ala232Ser) c.-14+4068C>A (n.-14+4068C>A) | |
6 | g.31816946C>A | CA363415762 | HSPA1A,HSPA1L | c.1190C>A (p.Ala397Asp) c.695C>A (p.Ala232Asp) c.-14+4067G>T (n.-14+4067G>T) | |
6 | g.31816946C>G | CA363415759 | HSPA1A,HSPA1L | c.1190C>G (p.Ala397Gly) c.695C>G (p.Ala232Gly) c.-14+4067G>C (n.-14+4067G>C) | |
6 | g.31816946C>T | CA363415757 | HSPA1A,HSPA1L | c.1190C>T (p.Ala397Val) c.695C>T (p.Ala232Val) c.-14+4067G>A (n.-14+4067G>A) | |
6 | g.31816947T>A | CA449806023 | HSPA1A,HSPA1L | c.1191T>A (p.Ala397=) c.696T>A (p.Ala232=) c.-14+4066A>T (n.-14+4066A>T) | |
6 | g.31816947T>C | CA449806024 | HSPA1A,HSPA1L | c.1191T>C (p.Ala397=) c.696T>C (p.Ala232=) c.-14+4066A>G (n.-14+4066A>G) | |
6 | g.31816947T>G | CA449806026 | HSPA1A,HSPA1L | c.1191T>G (p.Ala397=) c.696T>G (p.Ala232=) c.-14+4066A>C (n.-14+4066A>C) | |
6 | g.31816948C>A | CA363415766 | HSPA1A,HSPA1L | c.1192C>A (p.Pro398Thr) c.697C>A (p.Pro233Thr) c.-14+4065G>T (n.-14+4065G>T) | |
6 | g.31816948C>G | CA363415768 | HSPA1A,HSPA1L | c.1192C>G (p.Pro398Ala) c.697C>G (p.Pro233Ala) c.-14+4065G>C (n.-14+4065G>C) | |
6 | g.31816948C>T | CA363415770 | HSPA1A,HSPA1L | c.1192C>T (p.Pro398Ser) c.697C>T (p.Pro233Ser) c.-14+4065G>A (n.-14+4065G>A) | gnomAD v4 |
6 | g.31816949C>A | CA363415773 | HSPA1A,HSPA1L | c.1193C>A (p.Pro398His) c.698C>A (p.Pro233His) c.-14+4064G>T (n.-14+4064G>T) | |
6 | g.31816949C>G | CA363415776 | HSPA1A,HSPA1L | c.1193C>G (p.Pro398Arg) c.698C>G (p.Pro233Arg) c.-14+4064G>C (n.-14+4064G>C) | |
6 | g.31816949C>T | CA363415777 | HSPA1A,HSPA1L | c.1193C>T (p.Pro398Leu) c.698C>T (p.Pro233Leu) c.-14+4064G>A (n.-14+4064G>A) | |
6 | g.31816950C>A | CA449806034 | HSPA1A,HSPA1L | c.1194C>A (p.Pro398=) c.699C>A (p.Pro233=) c.-14+4063G>T (n.-14+4063G>T) | |
6 | g.31816950C>G | CA449806037 | HSPA1A,HSPA1L | c.1194C>G (p.Pro398=) c.699C>G (p.Pro233=) c.-14+4063G>C (n.-14+4063G>C) | |
6 | g.31816950C>T | CA449806031 | HSPA1A,HSPA1L | c.1194C>T (p.Pro398=) c.699C>T (p.Pro233=) c.-14+4063G>A (n.-14+4063G>A) | |
6 | g.31816951C>A | CA363415779 | HSPA1A,HSPA1L | c.1195C>A (p.Leu399Met) c.700C>A (p.Leu234Met) c.-14+4062G>T (n.-14+4062G>T) | |
6 | g.31816951C>G | CA363415781 | HSPA1A,HSPA1L | c.1195C>G (p.Leu399Val) c.700C>G (p.Leu234Val) c.-14+4062G>C (n.-14+4062G>C) | |
6 | g.31816951C>T | CA449806038 | HSPA1A,HSPA1L | c.1195C>T (p.Leu399=) c.700C>T (p.Leu234=) c.-14+4062G>A (n.-14+4062G>A) | |
6 | g.31816951_31816952del | CA2678044840 | HSPA1A,HSPA1L | c.1195_1196del (p.Leu399ValfsTer?) c.700_701del (p.Leu234ValfsTer?) c.-14+4061_-14+4062del (n.-14+4061_-14+4062del) | gnomAD v4 |
6 | g.31816952T>A | CA363415787 | HSPA1A,HSPA1L | c.1196T>A (p.Leu399Gln) c.701T>A (p.Leu234Gln) c.-14+4061A>T (n.-14+4061A>T) | gnomAD v4 |
6 | g.31816952T>C | CA363415789 | HSPA1A,HSPA1L | c.1196T>C (p.Leu399Pro) c.701T>C (p.Leu234Pro) c.-14+4061A>G (n.-14+4061A>G) | gnomAD v4 |
6 | g.31816952T>G | CA363415792 | HSPA1A,HSPA1L | c.1196T>G (p.Leu399Arg) c.701T>G (p.Leu234Arg) c.-14+4061A>C (n.-14+4061A>C) | |
6 | g.31816953G>A | CA449806043 | HSPA1A,HSPA1L | c.1197G>A (p.Leu399=) c.702G>A (p.Leu234=) c.-14+4060C>T (n.-14+4060C>T) | |
6 | g.31816953G>C | CA449806041 | HSPA1A,HSPA1L | c.1197G>C (p.Leu399=) c.702G>C (p.Leu234=) c.-14+4060C>G (n.-14+4060C>G) | |
6 | g.31816953G>T | CA449806040 | HSPA1A,HSPA1L | c.1197G>T (p.Leu399=) c.702G>T (p.Leu234=) c.-14+4060C>A (n.-14+4060C>A) | |
6 | g.31816954T>A | CA363415796 | HSPA1A,HSPA1L | c.1198T>A (p.Ser400Thr) c.703T>A (p.Ser235Thr) c.-14+4059A>T (n.-14+4059A>T) | |
6 | g.31816954T>C | CA363415800 | HSPA1A,HSPA1L | c.1198T>C (p.Ser400Pro) c.703T>C (p.Ser235Pro) c.-14+4059A>G (n.-14+4059A>G) | |
6 | g.31816954T>G | CA363415804 | HSPA1A,HSPA1L | c.1198T>G (p.Ser400Ala) c.703T>G (p.Ser235Ala) c.-14+4059A>C (n.-14+4059A>C) | |
6 | g.31816955C>A | CA363415814 | HSPA1A,HSPA1L | c.1199C>A (p.Ser400Ter) c.704C>A (p.Ser235Ter) c.-14+4058G>T (n.-14+4058G>T) | |
6 | g.31816955C>G | CA363415817 | HSPA1A,HSPA1L | c.1199C>G (p.Ser400Trp) c.704C>G (p.Ser235Trp) c.-14+4058G>C (n.-14+4058G>C) | |
6 | g.31816955C>T | CA363415811 | HSPA1A,HSPA1L | c.1199C>T (p.Ser400Leu) c.704C>T (p.Ser235Leu) c.-14+4058G>A (n.-14+4058G>A) | |
6 | g.31816956G>A | CA449806052 | HSPA1A,HSPA1L | c.1200G>A (p.Ser400=) c.705G>A (p.Ser235=) c.-14+4057C>T (n.-14+4057C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816956G>C | CA449806056 | HSPA1A,HSPA1L | c.1200G>C (p.Ser400=) c.705G>C (p.Ser235=) c.-14+4057C>G (n.-14+4057C>G) | gnomAD v4 |
6 | g.31816956G= | CA1619307559 | HSPA1A,HSPA1L | c.1200G= (p.Ser400=) c.705G= (p.Ser235=) c.-14+4057C= (n.-14+4057C=) | |
6 | g.31816956G>T | CA449806054 | HSPA1A,HSPA1L | c.1200G>T (p.Ser400=) c.705G>T (p.Ser235=) c.-14+4057C>A (n.-14+4057C>A) | |
6 | g.31816957C>A | CA363415821 | HSPA1A,HSPA1L | c.1201C>A (p.Leu401Met) c.706C>A (p.Leu236Met) c.-14+4056G>T (n.-14+4056G>T) | |
6 | g.31816957C= | CA1619307560 | HSPA1A,HSPA1L | c.1201C= (p.Leu401=) c.706C= (p.Leu236=) c.-14+4056G= (n.-14+4056G=) | |
6 | g.31816957C>G | CA363415825 | HSPA1A,HSPA1L | c.1201C>G (p.Leu401Val) c.706C>G (p.Leu236Val) c.-14+4056G>C (n.-14+4056G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816957C>T | CA449806058 | HSPA1A,HSPA1L | c.1201C>T (p.Leu401=) c.706C>T (p.Leu236=) c.-14+4056G>A (n.-14+4056G>A) | |
6 | g.31816958T>A | CA363415831 | HSPA1A,HSPA1L | c.1202T>A (p.Leu401Gln) c.707T>A (p.Leu236Gln) c.-14+4055A>T (n.-14+4055A>T) | |
6 | g.31816958T>C | CA363415833 | HSPA1A,HSPA1L | c.1202T>C (p.Leu401Pro) c.707T>C (p.Leu236Pro) c.-14+4055A>G (n.-14+4055A>G) | |
6 | g.31816958T>G | CA363415834 | HSPA1A,HSPA1L | c.1202T>G (p.Leu401Arg) c.707T>G (p.Leu236Arg) c.-14+4055A>C (n.-14+4055A>C) | |
6 | g.31816959G>A | CA449806063 | HSPA1A,HSPA1L | c.1203G>A (p.Leu401=) c.708G>A (p.Leu236=) c.-14+4054C>T (n.-14+4054C>T) | |
6 | g.31816959G>C | CA449806065 | HSPA1A,HSPA1L | c.1203G>C (p.Leu401=) c.708G>C (p.Leu236=) c.-14+4054C>G (n.-14+4054C>G) | |
6 | g.31816959G>T | CA449806067 | HSPA1A,HSPA1L | c.1203G>T (p.Leu401=) c.708G>T (p.Leu236=) c.-14+4054C>A (n.-14+4054C>A) | |
6 | g.31816960G>A | CA363415837 | HSPA1A,HSPA1L | c.1204G>A (p.Gly402Arg) c.709G>A (p.Gly237Arg) c.-14+4053C>T (n.-14+4053C>T) | |
6 | g.31816960G>C | CA363415847 | HSPA1A,HSPA1L | c.1204G>C (p.Gly402Arg) c.709G>C (p.Gly237Arg) c.-14+4053C>G (n.-14+4053C>G) | |
6 | g.31816960G>T | CA363415852 | HSPA1A,HSPA1L | c.1204G>T (p.Gly402Trp) c.709G>T (p.Gly237Trp) c.-14+4053C>A (n.-14+4053C>A) | |
6 | g.31816961G>A | CA363415864 | HSPA1A,HSPA1L | c.1205G>A (p.Gly402Glu) c.710G>A (p.Gly237Glu) c.-14+4052C>T (n.-14+4052C>T) | |
6 | g.31816961G>C | CA363415869 | HSPA1A,HSPA1L | c.1205G>C (p.Gly402Ala) c.710G>C (p.Gly237Ala) c.-14+4052C>G (n.-14+4052C>G) | |
6 | g.31816961G>T | CA363415870 | HSPA1A,HSPA1L | c.1205G>T (p.Gly402Val) c.710G>T (p.Gly237Val) c.-14+4052C>A (n.-14+4052C>A) | |
6 | g.31816962G>A | CA449806071 | HSPA1A,HSPA1L | c.1206G>A (p.Gly402=) c.711G>A (p.Gly237=) c.-14+4051C>T (n.-14+4051C>T) | |
6 | g.31816962G>C | CA449806073 | HSPA1A,HSPA1L | c.1206G>C (p.Gly402=) c.711G>C (p.Gly237=) c.-14+4051C>G (n.-14+4051C>G) | |
6 | g.31816962G>T | CA449806075 | HSPA1A,HSPA1L | c.1206G>T (p.Gly402=) c.711G>T (p.Gly237=) c.-14+4051C>A (n.-14+4051C>A) | |
6 | g.31816963C>A | CA363415877 | HSPA1A,HSPA1L | c.1207C>A (p.Leu403Met) c.712C>A (p.Leu238Met) c.-14+4050G>T (n.-14+4050G>T) | gnomAD v4 |
6 | g.31816963C>G | CA363415880 | HSPA1A,HSPA1L | c.1207C>G (p.Leu403Val) c.712C>G (p.Leu238Val) c.-14+4050G>C (n.-14+4050G>C) | |
6 | g.31816963C>T | CA449806077 | HSPA1A,HSPA1L | c.1207C>T (p.Leu403=) c.712C>T (p.Leu238=) c.-14+4050G>A (n.-14+4050G>A) | |
6 | g.31816964T>A | CA363415884 | HSPA1A,HSPA1L | c.1208T>A (p.Leu403Gln) c.713T>A (p.Leu238Gln) c.-14+4049A>T (n.-14+4049A>T) | |
6 | g.31816964T>C | CA363415890 | HSPA1A,HSPA1L | c.1208T>C (p.Leu403Pro) c.713T>C (p.Leu238Pro) c.-14+4049A>G (n.-14+4049A>G) | |
6 | g.31816964T>G | CA363415888 | HSPA1A,HSPA1L | c.1208T>G (p.Leu403Arg) c.713T>G (p.Leu238Arg) c.-14+4049A>C (n.-14+4049A>C) | |
6 | g.31816965G>A | CA449806079 | HSPA1A,HSPA1L | c.1209G>A (p.Leu403=) c.714G>A (p.Leu238=) c.-14+4048C>T (n.-14+4048C>T) | |
6 | g.31816965G>C | CA449806080 | HSPA1A,HSPA1L | c.1209G>C (p.Leu403=) c.714G>C (p.Leu238=) c.-14+4048C>G (n.-14+4048C>G) | |
6 | g.31816965G>T | CA449806083 | HSPA1A,HSPA1L | c.1209G>T (p.Leu403=) c.714G>T (p.Leu238=) c.-14+4048C>A (n.-14+4048C>A) | |
6 | g.31816966G>A | CA363415895 | HSPA1A,HSPA1L | c.1210G>A (p.Glu404Lys) c.715G>A (p.Glu239Lys) c.-14+4047C>T (n.-14+4047C>T) | |
6 | g.31816966G>C | CA363415899 | HSPA1A,HSPA1L | c.1210G>C (p.Glu404Gln) c.715G>C (p.Glu239Gln) c.-14+4047C>G (n.-14+4047C>G) | |
6 | g.31816966G>T | CA363415901 | HSPA1A,HSPA1L | c.1210G>T (p.Glu404Ter) c.715G>T (p.Glu239Ter) c.-14+4047C>A (n.-14+4047C>A) | |
6 | g.31816967A>C | CA363415911 | HSPA1A,HSPA1L | c.1211A>C (p.Glu404Ala) c.716A>C (p.Glu239Ala) c.-14+4046T>G (n.-14+4046T>G) | |
6 | g.31816967A>G | CA363415916 | HSPA1A,HSPA1L | c.1211A>G (p.Glu404Gly) c.716A>G (p.Glu239Gly) c.-14+4046T>C (n.-14+4046T>C) | |
6 | g.31816967A>T | CA363415919 | HSPA1A,HSPA1L | c.1211A>T (p.Glu404Val) c.716A>T (p.Glu239Val) c.-14+4046T>A (n.-14+4046T>A) | |
6 | g.31816968G>A | CA449806091 | HSPA1A,HSPA1L | c.1212G>A (p.Glu404=) c.717G>A (p.Glu239=) c.-14+4045C>T (n.-14+4045C>T) | |
6 | g.31816968G>C | CA363415923 | HSPA1A,HSPA1L | c.1212G>C (p.Glu404Asp) c.717G>C (p.Glu239Asp) c.-14+4045C>G (n.-14+4045C>G) | |
6 | g.31816968G>T | CA363415927 | HSPA1A,HSPA1L | c.1212G>T (p.Glu404Asp) c.717G>T (p.Glu239Asp) c.-14+4045C>A (n.-14+4045C>A) | |
6 | g.31816969A>C | CA363415931 | HSPA1A,HSPA1L | c.1213A>C (p.Thr405Pro) c.718A>C (p.Thr240Pro) c.-14+4044T>G (n.-14+4044T>G) | |
6 | g.31816969A>G | CA363415935 | HSPA1A,HSPA1L | c.1213A>G (p.Thr405Ala) c.718A>G (p.Thr240Ala) c.-14+4044T>C (n.-14+4044T>C) | |
6 | g.31816969A>T | CA363415938 | HSPA1A,HSPA1L | c.1213A>T (p.Thr405Ser) c.718A>T (p.Thr240Ser) c.-14+4044T>A (n.-14+4044T>A) | |
6 | g.31816970C>A | CA363415954 | HSPA1A,HSPA1L | c.1214C>A (p.Thr405Lys) c.719C>A (p.Thr240Lys) c.-14+4043G>T (n.-14+4043G>T) | |
6 | g.31816970C= | CA1619307561 | HSPA1A,HSPA1L | c.1214C= (p.Thr405=) c.719C= (p.Thr240=) c.-14+4043G= (n.-14+4043G=) | |
6 | g.31816970C>G | CA363415950 | HSPA1A,HSPA1L | c.1214C>G (p.Thr405Arg) c.719C>G (p.Thr240Arg) c.-14+4043G>C (n.-14+4043G>C) | |
6 | g.31816970C>T | CA363415943 | HSPA1A,HSPA1L | c.1214C>T (p.Thr405Met) c.719C>T (p.Thr240Met) c.-14+4043G>A (n.-14+4043G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816971G>A | CA449806099 | HSPA1A,HSPA1L | c.1215G>A (p.Thr405=) c.720G>A (p.Thr240=) c.-14+4042C>T (n.-14+4042C>T) | |
6 | g.31816971G>C | CA449806102 | HSPA1A,HSPA1L | c.1215G>C (p.Thr405=) c.720G>C (p.Thr240=) c.-14+4042C>G (n.-14+4042C>G) | |
6 | g.31816971G>T | CA449806098 | HSPA1A,HSPA1L | c.1215G>T (p.Thr405=) c.720G>T (p.Thr240=) c.-14+4042C>A (n.-14+4042C>A) | |
6 | g.31816972G>A | CA363415967 | HSPA1A,HSPA1L | c.1216G>A (p.Ala406Thr) c.721G>A (p.Ala241Thr) c.-14+4041C>T (n.-14+4041C>T) | gnomAD v4 |
6 | g.31816972G>C | CA363415971 | HSPA1A,HSPA1L | c.1216G>C (p.Ala406Pro) c.721G>C (p.Ala241Pro) c.-14+4041C>G (n.-14+4041C>G) | |
6 | g.31816972G>T | CA363415969 | HSPA1A,HSPA1L | c.1216G>T (p.Ala406Ser) c.721G>T (p.Ala241Ser) c.-14+4041C>A (n.-14+4041C>A) | |
6 | g.31816973C>A | CA363415975 | HSPA1A,HSPA1L | c.1217C>A (p.Ala406Asp) c.722C>A (p.Ala241Asp) c.-14+4040G>T (n.-14+4040G>T) | |
6 | g.31816973C>G | CA363415977 | HSPA1A,HSPA1L | c.1217C>G (p.Ala406Gly) c.722C>G (p.Ala241Gly) c.-14+4040G>C (n.-14+4040G>C) | |
6 | g.31816973C>T | CA363415982 | HSPA1A,HSPA1L | c.1217C>T (p.Ala406Val) c.722C>T (p.Ala241Val) c.-14+4040G>A (n.-14+4040G>A) | gnomAD v4 |
6 | g.31816974C>A | CA449806107 | HSPA1A,HSPA1L | c.1218C>A (p.Ala406=) c.723C>A (p.Ala241=) c.-14+4039G>T (n.-14+4039G>T) | |
6 | g.31816974C= | CA1619307562 | HSPA1A,HSPA1L | c.1218C= (p.Ala406=) c.723C= (p.Ala241=) c.-14+4039G= (n.-14+4039G=) | |
6 | g.31816974C>G | CA449806108 | HSPA1A,HSPA1L | c.1218C>G (p.Ala406=) c.723C>G (p.Ala241=) c.-14+4039G>C (n.-14+4039G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816974C>T | CA136893242 | HSPA1A,HSPA1L | c.1218C>T (p.Ala406=) c.723C>T (p.Ala241=) c.-14+4039G>A (n.-14+4039G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816975G>A | CA363415986 | HSPA1A,HSPA1L | c.1219G>A (p.Gly407Arg) c.724G>A (p.Gly242Arg) c.-14+4038C>T (n.-14+4038C>T) | gnomAD v4 |
6 | g.31816975G>C | CA363415987 | HSPA1A,HSPA1L | c.1219G>C (p.Gly407Arg) c.724G>C (p.Gly242Arg) c.-14+4038C>G (n.-14+4038C>G) | |
6 | g.31816975G>T | CA363415988 | HSPA1A,HSPA1L | c.1219G>T (p.Gly407Ter) c.724G>T (p.Gly242Ter) c.-14+4038C>A (n.-14+4038C>A) | |
6 | g.31816976G>A | CA363416008 | HSPA1A,HSPA1L | c.1220G>A (p.Gly407Glu) c.725G>A (p.Gly242Glu) c.-14+4037C>T (n.-14+4037C>T) | |
6 | g.31816976G>C | CA363415999 | HSPA1A,HSPA1L | c.1220G>C (p.Gly407Ala) c.725G>C (p.Gly242Ala) c.-14+4037C>G (n.-14+4037C>G) | |
6 | g.31816976G>T | CA363415991 | HSPA1A,HSPA1L | c.1220G>T (p.Gly407Val) c.725G>T (p.Gly242Val) c.-14+4037C>A (n.-14+4037C>A) | |
6 | g.31816977A>C | CA449806121 | HSPA1A,HSPA1L | c.1221A>C (p.Gly407=) c.726A>C (p.Gly242=) c.-14+4036T>G (n.-14+4036T>G) | |
6 | g.31816977A>G | CA449806117 | HSPA1A,HSPA1L | c.1221A>G (p.Gly407=) c.726A>G (p.Gly242=) c.-14+4036T>C (n.-14+4036T>C) | |
6 | g.31816977A>T | CA449806119 | HSPA1A,HSPA1L | c.1221A>T (p.Gly407=) c.726A>T (p.Gly242=) c.-14+4036T>A (n.-14+4036T>A) | |
6 | g.31816978G>A | CA363416010 | HSPA1A,HSPA1L | c.1222G>A (p.Gly408Ser) c.727G>A (p.Gly243Ser) c.-14+4035C>T (n.-14+4035C>T) | |
6 | g.31816978G>C | CA363416015 | HSPA1A,HSPA1L | c.1222G>C (p.Gly408Arg) c.727G>C (p.Gly243Arg) c.-14+4035C>G (n.-14+4035C>G) | |
6 | g.31816978G>T | CA363416018 | HSPA1A,HSPA1L | c.1222G>T (p.Gly408Cys) c.727G>T (p.Gly243Cys) c.-14+4035C>A (n.-14+4035C>A) | |
6 | g.31816979G>A | CA363416021 | HSPA1A,HSPA1L | c.1223G>A (p.Gly408Asp) c.728G>A (p.Gly243Asp) c.-14+4034C>T (n.-14+4034C>T) | |
6 | g.31816979G>C | CA363416023 | HSPA1A,HSPA1L | c.1223G>C (p.Gly408Ala) c.728G>C (p.Gly243Ala) c.-14+4034C>G (n.-14+4034C>G) | |
6 | g.31816979G>T | CA363416026 | HSPA1A,HSPA1L | c.1223G>T (p.Gly408Val) c.728G>T (p.Gly243Val) c.-14+4034C>A (n.-14+4034C>A) | |
6 | g.31816980C>A | CA449806127 | HSPA1A,HSPA1L | c.1224C>A (p.Gly408=) c.729C>A (p.Gly243=) c.-14+4033G>T (n.-14+4033G>T) | |
6 | g.31816980C>G | CA449806132 | HSPA1A,HSPA1L | c.1224C>G (p.Gly408=) c.729C>G (p.Gly243=) c.-14+4033G>C (n.-14+4033G>C) | |
6 | g.31816980C>T | CA449806133 | HSPA1A,HSPA1L | c.1224C>T (p.Gly408=) c.729C>T (p.Gly243=) c.-14+4033G>A (n.-14+4033G>A) | gnomAD v4 |
6 | g.31816981del | CA2678044919 | HSPA1A,HSPA1L | c.1225del (p.Val409Ter) c.730del (p.Val244Ter) c.-14+4032del (n.-14+4032del) | gnomAD v4 |
6 | g.31816981G>A | CA363416031 | HSPA1A,HSPA1L | c.1225G>A (p.Val409Met) c.730G>A (p.Val244Met) c.-14+4032C>T (n.-14+4032C>T) | |
6 | g.31816981G>C | CA363416034 | HSPA1A,HSPA1L | c.1225G>C (p.Val409Leu) c.730G>C (p.Val244Leu) c.-14+4032C>G (n.-14+4032C>G) | |
6 | g.31816981G>T | CA363416033 | HSPA1A,HSPA1L | c.1225G>T (p.Val409Leu) c.730G>T (p.Val244Leu) c.-14+4032C>A (n.-14+4032C>A) | |
6 | g.31816982T>A | CA363416035 | HSPA1A,HSPA1L | c.1226T>A (p.Val409Glu) c.731T>A (p.Val244Glu) c.-14+4031A>T (n.-14+4031A>T) | |
6 | g.31816982T>C | CA363416044 | HSPA1A,HSPA1L | c.1226T>C (p.Val409Ala) c.731T>C (p.Val244Ala) c.-14+4031A>G (n.-14+4031A>G) | |
6 | g.31816982T>G | CA363416047 | HSPA1A,HSPA1L | c.1226T>G (p.Val409Gly) c.731T>G (p.Val244Gly) c.-14+4031A>C (n.-14+4031A>C) | |
6 | g.31816983G>A | CA449806143 | HSPA1A,HSPA1L | c.1227G>A (p.Val409=) c.732G>A (p.Val244=) c.-14+4030C>T (n.-14+4030C>T) | gnomAD v4 |
6 | g.31816983G>C | CA449806140 | HSPA1A,HSPA1L | c.1227G>C (p.Val409=) c.732G>C (p.Val244=) c.-14+4030C>G (n.-14+4030C>G) | |
6 | g.31816983G>T | CA449806141 | HSPA1A,HSPA1L | c.1227G>T (p.Val409=) c.732G>T (p.Val244=) c.-14+4030C>A (n.-14+4030C>A) | |
6 | g.31816984A>C | CA363416052 | HSPA1A,HSPA1L | c.1228A>C (p.Met410Leu) c.733A>C (p.Met245Leu) c.-14+4029T>G (n.-14+4029T>G) | |
6 | g.31816984A>G | CA363416054 | HSPA1A,HSPA1L | c.1228A>G (p.Met410Val) c.733A>G (p.Met245Val) c.-14+4029T>C (n.-14+4029T>C) | gnomAD v4 |
6 | g.31816984A>T | CA363416055 | HSPA1A,HSPA1L | c.1228A>T (p.Met410Leu) c.733A>T (p.Met245Leu) c.-14+4029T>A (n.-14+4029T>A) | |
6 | g.31816985T>A | CA363416061 | HSPA1A,HSPA1L | c.1229T>A (p.Met410Lys) c.734T>A (p.Met245Lys) c.-14+4028A>T (n.-14+4028A>T) | gnomAD v4 |
6 | g.31816985T>C | CA363416067 | HSPA1A,HSPA1L | c.1229T>C (p.Met410Thr) c.734T>C (p.Met245Thr) c.-14+4028A>G (n.-14+4028A>G) | |
6 | g.31816985T>G | CA363416074 | HSPA1A,HSPA1L | c.1229T>G (p.Met410Arg) c.734T>G (p.Met245Arg) c.-14+4028A>C (n.-14+4028A>C) | |
6 | g.31816986G>A | CA363416094 | HSPA1A,HSPA1L | c.1230G>A (p.Met410Ile) c.735G>A (p.Met245Ile) c.-14+4027C>T (n.-14+4027C>T) | |
6 | g.31816986G>C | CA363416097 | HSPA1A,HSPA1L | c.1230G>C (p.Met410Ile) c.735G>C (p.Met245Ile) c.-14+4027C>G (n.-14+4027C>G) | |
6 | g.31816986G>T | CA363416099 | HSPA1A,HSPA1L | c.1230G>T (p.Met410Ile) c.735G>T (p.Met245Ile) c.-14+4027C>A (n.-14+4027C>A) | |
6 | g.31816987A>C | CA363416105 | HSPA1A,HSPA1L | c.1231A>C (p.Thr411Pro) c.736A>C (p.Thr246Pro) c.-14+4026T>G (n.-14+4026T>G) | |
6 | g.31816987A>G | CA363416110 | HSPA1A,HSPA1L | c.1231A>G (p.Thr411Ala) c.736A>G (p.Thr246Ala) c.-14+4026T>C (n.-14+4026T>C) | |
6 | g.31816987A>T | CA363416106 | HSPA1A,HSPA1L | c.1231A>T (p.Thr411Ser) c.736A>T (p.Thr246Ser) c.-14+4026T>A (n.-14+4026T>A) | |
6 | g.31816988C>A | CA363416118 | HSPA1A,HSPA1L | c.1232C>A (p.Thr411Asn) c.737C>A (p.Thr246Asn) c.-14+4025G>T (n.-14+4025G>T) | |
6 | g.31816988C>G | CA363416122 | HSPA1A,HSPA1L | c.1232C>G (p.Thr411Ser) c.737C>G (p.Thr246Ser) c.-14+4025G>C (n.-14+4025G>C) | |
6 | g.31816988C>T | CA363416128 | HSPA1A,HSPA1L | c.1232C>T (p.Thr411Ile) c.737C>T (p.Thr246Ile) c.-14+4025G>A (n.-14+4025G>A) | gnomAD v4 |
6 | g.31816989T>A | CA449806154 | HSPA1A,HSPA1L | c.1233T>A (p.Thr411=) c.738T>A (p.Thr246=) c.-14+4024A>T (n.-14+4024A>T) | |
6 | g.31816989T>C | CA449806157 | HSPA1A,HSPA1L | c.1233T>C (p.Thr411=) c.738T>C (p.Thr246=) c.-14+4024A>G (n.-14+4024A>G) | |
6 | g.31816989T>G | CA449806159 | HSPA1A,HSPA1L | c.1233T>G (p.Thr411=) c.738T>G (p.Thr246=) c.-14+4024A>C (n.-14+4024A>C) | gnomAD v4 |
6 | g.31816990G>A | CA363416139 | HSPA1A,HSPA1L | c.1234G>A (p.Ala412Thr) c.739G>A (p.Ala247Thr) c.-14+4023C>T (n.-14+4023C>T) | |
6 | g.31816990G>C | CA363416143 | HSPA1A,HSPA1L | c.1234G>C (p.Ala412Pro) c.739G>C (p.Ala247Pro) c.-14+4023C>G (n.-14+4023C>G) | |
6 | g.31816990G>T | CA363416146 | HSPA1A,HSPA1L | c.1234G>T (p.Ala412Ser) c.739G>T (p.Ala247Ser) c.-14+4023C>A (n.-14+4023C>A) | |
6 | g.31816991C>A | CA363416163 | HSPA1A,HSPA1L | c.1235C>A (p.Ala412Asp) c.740C>A (p.Ala247Asp) c.-14+4022G>T (n.-14+4022G>T) | |
6 | g.31816991C>G | CA363416166 | HSPA1A,HSPA1L | c.1235C>G (p.Ala412Gly) c.740C>G (p.Ala247Gly) c.-14+4022G>C (n.-14+4022G>C) | |
6 | g.31816991C>T | CA363416173 | HSPA1A,HSPA1L | c.1235C>T (p.Ala412Val) c.740C>T (p.Ala247Val) c.-14+4022G>A (n.-14+4022G>A) | gnomAD v4 |
6 | g.31816992C>A | CA449806163 | HSPA1A,HSPA1L | c.1236C>A (p.Ala412=) c.741C>A (p.Ala247=) c.-14+4021G>T (n.-14+4021G>T) | |
6 | g.31816992C= | CA1619307563 | HSPA1A,HSPA1L | c.1236C= (p.Ala412=) c.741C= (p.Ala247=) c.-14+4021G= (n.-14+4021G=) | |
6 | g.31816992C>G | CA449806164 | HSPA1A,HSPA1L | c.1236C>G (p.Ala412=) c.741C>G (p.Ala247=) c.-14+4021G>C (n.-14+4021G>C) | |
6 | g.31816992C>T | CA449806165 | HSPA1A,HSPA1L | c.1236C>T (p.Ala412=) c.741C>T (p.Ala247=) c.-14+4021G>A (n.-14+4021G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31816993C>A | CA363416178 | HSPA1A,HSPA1L | c.1237C>A (p.Leu413Met) c.742C>A (p.Leu248Met) c.-14+4020G>T (n.-14+4020G>T) | |
6 | g.31816993C>G | CA363416181 | HSPA1A,HSPA1L | c.1237C>G (p.Leu413Val) c.742C>G (p.Leu248Val) c.-14+4020G>C (n.-14+4020G>C) | |
6 | g.31816993C>T | CA449806166 | HSPA1A,HSPA1L | c.1237C>T (p.Leu413=) c.742C>T (p.Leu248=) c.-14+4020G>A (n.-14+4020G>A) | |
6 | g.31816994T>A | CA363416191 | HSPA1A,HSPA1L | c.1238T>A (p.Leu413Gln) c.743T>A (p.Leu248Gln) c.-14+4019A>T (n.-14+4019A>T) | |
6 | g.31816994T>C | CA363416189 | HSPA1A,HSPA1L | c.1238T>C (p.Leu413Pro) c.743T>C (p.Leu248Pro) c.-14+4019A>G (n.-14+4019A>G) | |
6 | g.31816994T>G | CA363416188 | HSPA1A,HSPA1L | c.1238T>G (p.Leu413Arg) c.743T>G (p.Leu248Arg) c.-14+4019A>C (n.-14+4019A>C) | |
6 | g.31816995G>A | CA449806171 | HSPA1A,HSPA1L | c.1239G>A (p.Leu413=) c.744G>A (p.Leu248=) c.-14+4018C>T (n.-14+4018C>T) | |
6 | g.31816995G>C | CA449806172 | HSPA1A,HSPA1L | c.1239G>C (p.Leu413=) c.744G>C (p.Leu248=) c.-14+4018C>G (n.-14+4018C>G) | |
6 | g.31816995G>T | CA449806173 | HSPA1A,HSPA1L | c.1239G>T (p.Leu413=) c.744G>T (p.Leu248=) c.-14+4018C>A (n.-14+4018C>A) | |
6 | g.31816996A>C | CA363416194 | HSPA1A,HSPA1L | c.1240A>C (p.Ile414Leu) c.745A>C (p.Ile249Leu) c.-14+4017T>G (n.-14+4017T>G) | |
6 | g.31816996A>G | CA363416199 | HSPA1A,HSPA1L | c.1240A>G (p.Ile414Val) c.745A>G (p.Ile249Val) c.-14+4017T>C (n.-14+4017T>C) | |
6 | g.31816996A>T | CA363416201 | HSPA1A,HSPA1L | c.1240A>T (p.Ile414Phe) c.745A>T (p.Ile249Phe) c.-14+4017T>A (n.-14+4017T>A) | |
6 | g.31816997T>A | CA363416206 | HSPA1A,HSPA1L | c.1241T>A (p.Ile414Asn) c.746T>A (p.Ile249Asn) c.-14+4016A>T (n.-14+4016A>T) | |
6 | g.31816997T>C | CA363416222 | HSPA1A,HSPA1L | c.1241T>C (p.Ile414Thr) c.746T>C (p.Ile249Thr) c.-14+4016A>G (n.-14+4016A>G) | |
6 | g.31816997T>G | CA363416226 | HSPA1A,HSPA1L | c.1241T>G (p.Ile414Ser) c.746T>G (p.Ile249Ser) c.-14+4016A>C (n.-14+4016A>C) | |
6 | g.31816998C>A | CA449806180 | HSPA1A,HSPA1L | c.1242C>A (p.Ile414=) c.747C>A (p.Ile249=) c.-14+4015G>T (n.-14+4015G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816998C= | CA1619307564 | HSPA1A,HSPA1L | c.1242C= (p.Ile414=) c.747C= (p.Ile249=) c.-14+4015G= (n.-14+4015G=) | |
6 | g.31816998C>G | CA363416233 | HSPA1A,HSPA1L | c.1242C>G (p.Ile414Met) c.747C>G (p.Ile249Met) c.-14+4015G>C (n.-14+4015G>C) | COSMIC |
6 | g.31816998C>T | CA449806182 | HSPA1A,HSPA1L | c.1242C>T (p.Ile414=) c.747C>T (p.Ile249=) c.-14+4015G>A (n.-14+4015G>A) | |
6 | g.31816999A>C | CA363416240 | HSPA1A,HSPA1L | c.1243A>C (p.Lys415Gln) c.748A>C (p.Lys250Gln) c.-14+4014T>G (n.-14+4014T>G) | |
6 | g.31816999A>G | CA363416241 | HSPA1A,HSPA1L | c.1243A>G (p.Lys415Glu) c.748A>G (p.Lys250Glu) c.-14+4014T>C (n.-14+4014T>C) | |
6 | g.31816999A>T | CA363416244 | HSPA1A,HSPA1L | c.1243A>T (p.Lys415Ter) c.748A>T (p.Lys250Ter) c.-14+4014T>A (n.-14+4014T>A) | |
6 | g.31817000A>C | CA363416247 | HSPA1A,HSPA1L | c.1244A>C (p.Lys415Thr) c.749A>C (p.Lys250Thr) c.-14+4013T>G (n.-14+4013T>G) | |
6 | g.31817000A>G | CA363416248 | HSPA1A,HSPA1L | c.1244A>G (p.Lys415Arg) c.749A>G (p.Lys250Arg) c.-14+4013T>C (n.-14+4013T>C) | |
6 | g.31817000A>T | CA363416249 | HSPA1A,HSPA1L | c.1244A>T (p.Lys415Met) c.749A>T (p.Lys250Met) c.-14+4013T>A (n.-14+4013T>A) | |
6 | g.31817001G>A | CA449806184 | HSPA1A,HSPA1L | c.1245G>A (p.Lys415=) c.750G>A (p.Lys250=) c.-14+4012C>T (n.-14+4012C>T) | gnomAD v4 |
6 | g.31817001G>C | CA363416251 | HSPA1A,HSPA1L | c.1245G>C (p.Lys415Asn) c.750G>C (p.Lys250Asn) c.-14+4012C>G (n.-14+4012C>G) | |
6 | g.31817001G>T | CA363416255 | HSPA1A,HSPA1L | c.1245G>T (p.Lys415Asn) c.750G>T (p.Lys250Asn) c.-14+4012C>A (n.-14+4012C>A) | |
6 | g.31817002C>A | CA363416261 | HSPA1A,HSPA1L | c.1246C>A (p.Arg416Ser) c.751C>A (p.Arg251Ser) c.-14+4011G>T (n.-14+4011G>T) | |
6 | g.31817002C>G | CA363416274 | HSPA1A,HSPA1L | c.1246C>G (p.Arg416Gly) c.751C>G (p.Arg251Gly) c.-14+4011G>C (n.-14+4011G>C) | |
6 | g.31817002C>T | CA363416267 | HSPA1A,HSPA1L | c.1246C>T (p.Arg416Cys) c.751C>T (p.Arg251Cys) c.-14+4011G>A (n.-14+4011G>A) | gnomAD v4 |
6 | g.31817003G>A | CA363416284 | HSPA1A,HSPA1L | c.1247G>A (p.Arg416His) c.752G>A (p.Arg251His) c.-14+4010C>T (n.-14+4010C>T) | |
6 | g.31817003G>C | CA363416286 | HSPA1A,HSPA1L | c.1247G>C (p.Arg416Pro) c.752G>C (p.Arg251Pro) c.-14+4010C>G (n.-14+4010C>G) | |
6 | g.31817003G>T | CA363416288 | HSPA1A,HSPA1L | c.1247G>T (p.Arg416Leu) c.752G>T (p.Arg251Leu) c.-14+4010C>A (n.-14+4010C>A) | |
6 | g.31817004C>A | CA449806193 | HSPA1A,HSPA1L | c.1248C>A (p.Arg416=) c.753C>A (p.Arg251=) c.-14+4009G>T (n.-14+4009G>T) | |
6 | g.31817004C>G | CA449806195 | HSPA1A,HSPA1L | c.1248C>G (p.Arg416=) c.753C>G (p.Arg251=) c.-14+4009G>C (n.-14+4009G>C) | |
6 | g.31817004C>T | CA449806194 | HSPA1A,HSPA1L | c.1248C>T (p.Arg416=) c.753C>T (p.Arg251=) c.-14+4009G>A (n.-14+4009G>A) | |
6 | g.31817005A>C | CA363416294 | HSPA1A,HSPA1L | c.1249A>C (p.Asn417His) c.754A>C (p.Asn252His) c.-14+4008T>G (n.-14+4008T>G) | |
6 | g.31817005A>G | CA363416308 | HSPA1A,HSPA1L | c.1249A>G (p.Asn417Asp) c.754A>G (p.Asn252Asp) c.-14+4008T>C (n.-14+4008T>C) | |
6 | g.31817005A>T | CA363416319 | HSPA1A,HSPA1L | c.1249A>T (p.Asn417Tyr) c.754A>T (p.Asn252Tyr) c.-14+4008T>A (n.-14+4008T>A) | |
6 | g.31817006A>C | CA363416326 | HSPA1A,HSPA1L | c.1250A>C (p.Asn417Thr) c.755A>C (p.Asn252Thr) c.-14+4007T>G (n.-14+4007T>G) | |
6 | g.31817006A>G | CA363416328 | HSPA1A,HSPA1L | c.1250A>G (p.Asn417Ser) c.755A>G (p.Asn252Ser) c.-14+4007T>C (n.-14+4007T>C) | |
6 | g.31817006A>T | CA363416330 | HSPA1A,HSPA1L | c.1250A>T (p.Asn417Ile) c.755A>T (p.Asn252Ile) c.-14+4007T>A (n.-14+4007T>A) | |
6 | g.31817007C>A | CA363416334 | HSPA1A,HSPA1L | c.1251C>A (p.Asn417Lys) c.756C>A (p.Asn252Lys) c.-14+4006G>T (n.-14+4006G>T) | |
6 | g.31817007C>G | CA363416337 | HSPA1A,HSPA1L | c.1251C>G (p.Asn417Lys) c.756C>G (p.Asn252Lys) c.-14+4006G>C (n.-14+4006G>C) | |
6 | g.31817007C>T | CA449806199 | HSPA1A,HSPA1L | c.1251C>T (p.Asn417=) c.756C>T (p.Asn252=) c.-14+4006G>A (n.-14+4006G>A) | |
6 | g.31817008T>A | CA363416350 | HSPA1A,HSPA1L | c.1252T>A (p.Ser418Thr) c.757T>A (p.Ser253Thr) c.-14+4005A>T (n.-14+4005A>T) | |
6 | g.31817008T>C | CA363416345 | HSPA1A,HSPA1L | c.1252T>C (p.Ser418Pro) c.757T>C (p.Ser253Pro) c.-14+4005A>G (n.-14+4005A>G) | |
6 | g.31817008T>G | CA363416342 | HSPA1A,HSPA1L | c.1252T>G (p.Ser418Ala) c.757T>G (p.Ser253Ala) c.-14+4005A>C (n.-14+4005A>C) | |
6 | g.31817009C>A | CA363416356 | HSPA1A,HSPA1L | c.1253C>A (p.Ser418Tyr) c.758C>A (p.Ser253Tyr) c.-14+4004G>T (n.-14+4004G>T) | |
6 | g.31817009C>G | CA363416362 | HSPA1A,HSPA1L | c.1253C>G (p.Ser418Cys) c.758C>G (p.Ser253Cys) c.-14+4004G>C (n.-14+4004G>C) | |
6 | g.31817009C>T | CA363416363 | HSPA1A,HSPA1L | c.1253C>T (p.Ser418Phe) c.758C>T (p.Ser253Phe) c.-14+4004G>A (n.-14+4004G>A) | |
6 | g.31817010dup | CA2578570475 | HSPA1A,HSPA1L | c.1254dup (p.Thr419HisfsTer?) c.759dup (p.Thr254HisfsTer?) c.-14+4004dup (n.-14+4004dup) | |
6 | g.31817010C>A | CA449806204 | HSPA1A,HSPA1L | c.1254C>A (p.Ser418=) c.759C>A (p.Ser253=) c.-14+4003G>T (n.-14+4003G>T) | |
6 | g.31817010C>G | CA449806205 | HSPA1A,HSPA1L | c.1254C>G (p.Ser418=) c.759C>G (p.Ser253=) c.-14+4003G>C (n.-14+4003G>C) | |
6 | g.31817010C>T | CA449806207 | HSPA1A,HSPA1L | c.1254C>T (p.Ser418=) c.759C>T (p.Ser253=) c.-14+4003G>A (n.-14+4003G>A) | |
6 | g.31817011A>C | CA363416365 | HSPA1A,HSPA1L | c.1255A>C (p.Thr419Pro) c.760A>C (p.Thr254Pro) c.-14+4002T>G (n.-14+4002T>G) | |
6 | g.31817011A>G | CA363416368 | HSPA1A,HSPA1L | c.1255A>G (p.Thr419Ala) c.760A>G (p.Thr254Ala) c.-14+4002T>C (n.-14+4002T>C) | |
6 | g.31817011A>T | CA363416374 | HSPA1A,HSPA1L | c.1255A>T (p.Thr419Ser) c.760A>T (p.Thr254Ser) c.-14+4002T>A (n.-14+4002T>A) | |
6 | g.31817012C>A | CA363416382 | HSPA1A,HSPA1L | c.1256C>A (p.Thr419Asn) c.761C>A (p.Thr254Asn) c.-14+4001G>T (n.-14+4001G>T) | |
6 | g.31817012C>G | CA363416386 | HSPA1A,HSPA1L | c.1256C>G (p.Thr419Ser) c.761C>G (p.Thr254Ser) c.-14+4001G>C (n.-14+4001G>C) | |
6 | g.31817012C>T | CA363416392 | HSPA1A,HSPA1L | c.1256C>T (p.Thr419Ile) c.761C>T (p.Thr254Ile) c.-14+4001G>A (n.-14+4001G>A) | |
6 | g.31817013C>A | CA449806215 | HSPA1A,HSPA1L | c.1257C>A (p.Thr419=) c.762C>A (p.Thr254=) c.-14+4000G>T (n.-14+4000G>T) | |
6 | g.31817013C>G | CA449806217 | HSPA1A,HSPA1L | c.1257C>G (p.Thr419=) c.762C>G (p.Thr254=) c.-14+4000G>C (n.-14+4000G>C) | |
6 | g.31817013C>T | CA449806218 | HSPA1A,HSPA1L | c.1257C>T (p.Thr419=) c.762C>T (p.Thr254=) c.-14+4000G>A (n.-14+4000G>A) | gnomAD v4 |
6 | g.31817014A>C | CA363416405 | HSPA1A,HSPA1L | c.1258A>C (p.Ile420Leu) c.763A>C (p.Ile255Leu) c.-14+3999T>G (n.-14+3999T>G) | |
6 | g.31817014A>G | CA363416409 | HSPA1A,HSPA1L | c.1258A>G (p.Ile420Val) c.763A>G (p.Ile255Val) c.-14+3999T>C (n.-14+3999T>C) | |
6 | g.31817014A>T | CA363416410 | HSPA1A,HSPA1L | c.1258A>T (p.Ile420Phe) c.763A>T (p.Ile255Phe) c.-14+3999T>A (n.-14+3999T>A) | |
6 | g.31817015T>A | CA363416412 | HSPA1A,HSPA1L | c.1259T>A (p.Ile420Asn) c.764T>A (p.Ile255Asn) c.-14+3998A>T (n.-14+3998A>T) | |
6 | g.31817015T>C | CA363416414 | HSPA1A,HSPA1L | c.1259T>C (p.Ile420Thr) c.764T>C (p.Ile255Thr) c.-14+3998A>G (n.-14+3998A>G) | |
6 | g.31817015T>G | CA363416411 | HSPA1A,HSPA1L | c.1259T>G (p.Ile420Ser) c.764T>G (p.Ile255Ser) c.-14+3998A>C (n.-14+3998A>C) | |
6 | g.31817016C>A | CA449806222 | HSPA1A,HSPA1L | c.1260C>A (p.Ile420=) c.765C>A (p.Ile255=) c.-14+3997G>T (n.-14+3997G>T) | |
6 | g.31817016C>G | CA363416421 | HSPA1A,HSPA1L | c.1260C>G (p.Ile420Met) c.765C>G (p.Ile255Met) c.-14+3997G>C (n.-14+3997G>C) | |
6 | g.31817016C>T | CA449806223 | HSPA1A,HSPA1L | c.1260C>T (p.Ile420=) c.765C>T (p.Ile255=) c.-14+3997G>A (n.-14+3997G>A) | |
6 | g.31817017C>A | CA363416423 | HSPA1A,HSPA1L | c.1261C>A (p.Pro421Thr) c.766C>A (p.Pro256Thr) c.-14+3996G>T (n.-14+3996G>T) | |
6 | g.31817017C>G | CA363416424 | HSPA1A,HSPA1L | c.1261C>G (p.Pro421Ala) c.766C>G (p.Pro256Ala) c.-14+3996G>C (n.-14+3996G>C) | |
6 | g.31817017C>T | CA363416425 | HSPA1A,HSPA1L | c.1261C>T (p.Pro421Ser) c.766C>T (p.Pro256Ser) c.-14+3996G>A (n.-14+3996G>A) | |
6 | g.31817018C>A | CA363416429 | HSPA1A,HSPA1L | c.1262C>A (p.Pro421His) c.767C>A (p.Pro256His) c.-14+3995G>T (n.-14+3995G>T) | gnomAD v4 |
6 | g.31817018C>G | CA363416432 | HSPA1A,HSPA1L | c.1262C>G (p.Pro421Arg) c.767C>G (p.Pro256Arg) c.-14+3995G>C (n.-14+3995G>C) | |
6 | g.31817018C>T | CA363416444 | HSPA1A,HSPA1L | c.1262C>T (p.Pro421Leu) c.767C>T (p.Pro256Leu) c.-14+3995G>A (n.-14+3995G>A) | gnomAD v4 |
6 | g.31817019C>A | CA449806228 | HSPA1A,HSPA1L | c.1263C>A (p.Pro421=) c.768C>A (p.Pro256=) c.-14+3994G>T (n.-14+3994G>T) | |
6 | g.31817019C>G | CA449806229 | HSPA1A,HSPA1L | c.1263C>G (p.Pro421=) c.768C>G (p.Pro256=) c.-14+3994G>C (n.-14+3994G>C) | |
6 | g.31817019C>T | CA449806230 | HSPA1A,HSPA1L | c.1263C>T (p.Pro421=) c.768C>T (p.Pro256=) c.-14+3994G>A (n.-14+3994G>A) | |
6 | g.31817020A>C | CA363416454 | HSPA1A,HSPA1L | c.1264A>C (p.Thr422Pro) c.769A>C (p.Thr257Pro) c.-14+3993T>G (n.-14+3993T>G) | |
6 | g.31817020A>G | CA363416461 | HSPA1A,HSPA1L | c.1264A>G (p.Thr422Ala) c.769A>G (p.Thr257Ala) c.-14+3993T>C (n.-14+3993T>C) | |
6 | g.31817020A>T | CA363416465 | HSPA1A,HSPA1L | c.1264A>T (p.Thr422Ser) c.769A>T (p.Thr257Ser) c.-14+3993T>A (n.-14+3993T>A) | |
6 | g.31817021C>A | CA363416472 | HSPA1A,HSPA1L | c.1265C>A (p.Thr422Asn) c.770C>A (p.Thr257Asn) c.-14+3992G>T (n.-14+3992G>T) | |
6 | g.31817021C>G | CA363416475 | HSPA1A,HSPA1L | c.1265C>G (p.Thr422Ser) c.770C>G (p.Thr257Ser) c.-14+3992G>C (n.-14+3992G>C) | |
6 | g.31817021C>T | CA363416489 | HSPA1A,HSPA1L | c.1265C>T (p.Thr422Ile) c.770C>T (p.Thr257Ile) c.-14+3992G>A (n.-14+3992G>A) | |
6 | g.31817022C>A | CA449806236 | HSPA1A,HSPA1L | c.1266C>A (p.Thr422=) c.771C>A (p.Thr257=) c.-14+3991G>T (n.-14+3991G>T) | gnomAD v4 |
6 | g.31817022C>G | CA449806237 | HSPA1A,HSPA1L | c.1266C>G (p.Thr422=) c.771C>G (p.Thr257=) c.-14+3991G>C (n.-14+3991G>C) | |
6 | g.31817022C>T | CA449806238 | HSPA1A,HSPA1L | c.1266C>T (p.Thr422=) c.771C>T (p.Thr257=) c.-14+3991G>A (n.-14+3991G>A) | |
6 | g.31817023A>C | CA363416509 | HSPA1A,HSPA1L | c.1267A>C (p.Lys423Gln) c.772A>C (p.Lys258Gln) c.-14+3990T>G (n.-14+3990T>G) | |
6 | g.31817023A>G | CA363416505 | HSPA1A,HSPA1L | c.1267A>G (p.Lys423Glu) c.772A>G (p.Lys258Glu) c.-14+3990T>C (n.-14+3990T>C) | gnomAD v4 |
6 | g.31817023A>T | CA363416496 | HSPA1A,HSPA1L | c.1267A>T (p.Lys423Ter) c.772A>T (p.Lys258Ter) c.-14+3990T>A (n.-14+3990T>A) | |
6 | g.31817024A>C | CA363416512 | HSPA1A,HSPA1L | c.1268A>C (p.Lys423Thr) c.773A>C (p.Lys258Thr) c.-14+3989T>G (n.-14+3989T>G) | |
6 | g.31817024A>G | CA363416515 | HSPA1A,HSPA1L | c.1268A>G (p.Lys423Arg) c.773A>G (p.Lys258Arg) c.-14+3989T>C (n.-14+3989T>C) | |
6 | g.31817024A>T | CA363416519 | HSPA1A,HSPA1L | c.1268A>T (p.Lys423Met) c.773A>T (p.Lys258Met) c.-14+3989T>A (n.-14+3989T>A) | |
6 | g.31817025G>A | CA449806247 | HSPA1A,HSPA1L | c.1269G>A (p.Lys423=) c.774G>A (p.Lys258=) c.-14+3988C>T (n.-14+3988C>T) | |
6 | g.31817025G>C | CA363416526 | HSPA1A,HSPA1L | c.1269G>C (p.Lys423Asn) c.774G>C (p.Lys258Asn) c.-14+3988C>G (n.-14+3988C>G) | |
6 | g.31817025G>T | CA363416531 | HSPA1A,HSPA1L | c.1269G>T (p.Lys423Asn) c.774G>T (p.Lys258Asn) c.-14+3988C>A (n.-14+3988C>A) | |
6 | g.31817026C>A | CA363416538 | HSPA1A,HSPA1L | c.1270C>A (p.Gln424Lys) c.775C>A (p.Gln259Lys) c.-14+3987G>T (n.-14+3987G>T) | |
6 | g.31817026C>G | CA363416539 | HSPA1A,HSPA1L | c.1270C>G (p.Gln424Glu) c.775C>G (p.Gln259Glu) c.-14+3987G>C (n.-14+3987G>C) | |
6 | g.31817026C>T | CA363416540 | HSPA1A,HSPA1L | c.1270C>T (p.Gln424Ter) c.775C>T (p.Gln259Ter) c.-14+3987G>A (n.-14+3987G>A) | |
6 | g.31817027A>C | CA363416542 | HSPA1A,HSPA1L | c.1271A>C (p.Gln424Pro) c.776A>C (p.Gln259Pro) c.-14+3986T>G (n.-14+3986T>G) | |
6 | g.31817027A>G | CA363416545 | HSPA1A,HSPA1L | c.1271A>G (p.Gln424Arg) c.776A>G (p.Gln259Arg) c.-14+3986T>C (n.-14+3986T>C) | |
6 | g.31817027A>T | CA363416553 | HSPA1A,HSPA1L | c.1271A>T (p.Gln424Leu) c.776A>T (p.Gln259Leu) c.-14+3986T>A (n.-14+3986T>A) | |
6 | g.31817028G>A | CA449806256 | HSPA1A,HSPA1L | c.1272G>A (p.Gln424=) c.777G>A (p.Gln259=) c.-14+3985C>T (n.-14+3985C>T) | |
6 | g.31817028G>C | CA363416565 | HSPA1A,HSPA1L | c.1272G>C (p.Gln424His) c.777G>C (p.Gln259His) c.-14+3985C>G (n.-14+3985C>G) | |
6 | g.31817028G>T | CA363416582 | HSPA1A,HSPA1L | c.1272G>T (p.Gln424His) c.777G>T (p.Gln259His) c.-14+3985C>A (n.-14+3985C>A) | |
6 | g.31817029A>C | CA363416587 | HSPA1A,HSPA1L | c.1273A>C (p.Thr425Pro) c.778A>C (p.Thr260Pro) c.-14+3984T>G (n.-14+3984T>G) | |
6 | g.31817029A>G | CA363416598 | HSPA1A,HSPA1L | c.1273A>G (p.Thr425Ala) c.778A>G (p.Thr260Ala) c.-14+3984T>C (n.-14+3984T>C) | |
6 | g.31817029A>T | CA363416593 | HSPA1A,HSPA1L | c.1273A>T (p.Thr425Ser) c.778A>T (p.Thr260Ser) c.-14+3984T>A (n.-14+3984T>A) | |
6 | g.31817030C>A | CA363416599 | HSPA1A,HSPA1L | c.1274C>A (p.Thr425Lys) c.779C>A (p.Thr260Lys) c.-14+3983G>T (n.-14+3983G>T) | |
6 | g.31817030C>G | CA363416604 | HSPA1A,HSPA1L | c.1274C>G (p.Thr425Arg) c.779C>G (p.Thr260Arg) c.-14+3983G>C (n.-14+3983G>C) | |
6 | g.31817030C>T | CA363416602 | HSPA1A,HSPA1L | c.1274C>T (p.Thr425Met) c.779C>T (p.Thr260Met) c.-14+3983G>A (n.-14+3983G>A) | gnomAD v4 |
6 | g.31817031G>A | CA449806264 | HSPA1A,HSPA1L | c.1275G>A (p.Thr425=) c.780G>A (p.Thr260=) c.-14+3982C>T (n.-14+3982C>T) | gnomAD v4 |
6 | g.31817031G>C | CA449806265 | HSPA1A,HSPA1L | c.1275G>C (p.Thr425=) c.780G>C (p.Thr260=) c.-14+3982C>G (n.-14+3982C>G) | gnomAD v4 |
6 | g.31817031G>T | CA449806266 | HSPA1A,HSPA1L | c.1275G>T (p.Thr425=) c.780G>T (p.Thr260=) c.-14+3982C>A (n.-14+3982C>A) | |
6 | g.31817032C>A | CA363416609 | HSPA1A,HSPA1L | c.1276C>A (p.Gln426Lys) c.781C>A (p.Gln261Lys) c.-14+3981G>T (n.-14+3981G>T) | |
6 | g.31817032C= | CA1619307565 | HSPA1A,HSPA1L | c.1276C= (p.Gln426=) c.781C= (p.Gln261=) c.-14+3981G= (n.-14+3981G=) | |
6 | g.31817032C>G | CA363416638 | HSPA1A,HSPA1L | c.1276C>G (p.Gln426Glu) c.781C>G (p.Gln261Glu) c.-14+3981G>C (n.-14+3981G>C) | |
6 | g.31817032C>T | CA363416629 | HSPA1A,HSPA1L | c.1276C>T (p.Gln426Ter) c.781C>T (p.Gln261Ter) c.-14+3981G>A (n.-14+3981G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817033A>C | CA363416639 | HSPA1A,HSPA1L | c.1277A>C (p.Gln426Pro) c.782A>C (p.Gln261Pro) c.-14+3980T>G (n.-14+3980T>G) | |
6 | g.31817033A>G | CA363416640 | HSPA1A,HSPA1L | c.1277A>G (p.Gln426Arg) c.782A>G (p.Gln261Arg) c.-14+3980T>C (n.-14+3980T>C) | |
6 | g.31817033A>T | CA363416642 | HSPA1A,HSPA1L | c.1277A>T (p.Gln426Leu) c.782A>T (p.Gln261Leu) c.-14+3980T>A (n.-14+3980T>A) | |
6 | g.31817034G>A | CA449806271 | HSPA1A,HSPA1L | c.1278G>A (p.Gln426=) c.783G>A (p.Gln261=) c.-14+3979C>T (n.-14+3979C>T) | gnomAD v4 |
6 | g.31817034G>C | CA363416657 | HSPA1A,HSPA1L | c.1278G>C (p.Gln426His) c.783G>C (p.Gln261His) c.-14+3979C>G (n.-14+3979C>G) | gnomAD v4 |
6 | g.31817034G>T | CA363416663 | HSPA1A,HSPA1L | c.1278G>T (p.Gln426His) c.783G>T (p.Gln261His) c.-14+3979C>A (n.-14+3979C>A) | |
6 | g.31817035A>C | CA363416670 | HSPA1A,HSPA1L | c.1279A>C (p.Ile427Leu) c.784A>C (p.Ile262Leu) c.-14+3978T>G (n.-14+3978T>G) | |
6 | g.31817035A>G | CA363416671 | HSPA1A,HSPA1L | c.1279A>G (p.Ile427Val) c.784A>G (p.Ile262Val) c.-14+3978T>C (n.-14+3978T>C) | gnomAD v4 |
6 | g.31817035A>T | CA363416678 | HSPA1A,HSPA1L | c.1279A>T (p.Ile427Phe) c.784A>T (p.Ile262Phe) c.-14+3978T>A (n.-14+3978T>A) | |
6 | g.31817036T>A | CA363416685 | HSPA1A,HSPA1L | c.1280T>A (p.Ile427Asn) c.785T>A (p.Ile262Asn) c.-14+3977A>T (n.-14+3977A>T) | |
6 | g.31817036T>C | CA363416693 | HSPA1A,HSPA1L | c.1280T>C (p.Ile427Thr) c.785T>C (p.Ile262Thr) c.-14+3977A>G (n.-14+3977A>G) | |
6 | g.31817036T>G | CA363416708 | HSPA1A,HSPA1L | c.1280T>G (p.Ile427Ser) c.785T>G (p.Ile262Ser) c.-14+3977A>C (n.-14+3977A>C) | |
6 | g.31817037C>A | CA449806276 | HSPA1A,HSPA1L | c.1281C>A (p.Ile427=) c.786C>A (p.Ile262=) c.-14+3976G>T (n.-14+3976G>T) | |
6 | g.31817037C>G | CA363416715 | HSPA1A,HSPA1L | c.1281C>G (p.Ile427Met) c.786C>G (p.Ile262Met) c.-14+3976G>C (n.-14+3976G>C) | |
6 | g.31817037C>T | CA449806280 | HSPA1A,HSPA1L | c.1281C>T (p.Ile427=) c.786C>T (p.Ile262=) c.-14+3976G>A (n.-14+3976G>A) | |
6 | g.31817038T>A | CA363416726 | HSPA1A,HSPA1L | c.1282T>A (p.Phe428Ile) c.787T>A (p.Phe263Ile) c.-14+3975A>T (n.-14+3975A>T) | |
6 | g.31817038T>C | CA363416744 | HSPA1A,HSPA1L | c.1282T>C (p.Phe428Leu) c.787T>C (p.Phe263Leu) c.-14+3975A>G (n.-14+3975A>G) | |
6 | g.31817038T>G | CA363416750 | HSPA1A,HSPA1L | c.1282T>G (p.Phe428Val) c.787T>G (p.Phe263Val) c.-14+3975A>C (n.-14+3975A>C) | |
6 | g.31817039T>A | CA363416767 | HSPA1A,HSPA1L | c.1283T>A (p.Phe428Tyr) c.788T>A (p.Phe263Tyr) c.-14+3974A>T (n.-14+3974A>T) | |
6 | g.31817039T>C | CA363416775 | HSPA1A,HSPA1L | c.1283T>C (p.Phe428Ser) c.788T>C (p.Phe263Ser) c.-14+3974A>G (n.-14+3974A>G) | |
6 | g.31817039T>G | CA363416776 | HSPA1A,HSPA1L | c.1283T>G (p.Phe428Cys) c.788T>G (p.Phe263Cys) c.-14+3974A>C (n.-14+3974A>C) | |
6 | g.31817040C>A | CA363416782 | HSPA1A,HSPA1L | c.1284C>A (p.Phe428Leu) c.789C>A (p.Phe263Leu) c.-14+3973G>T (n.-14+3973G>T) | |
6 | g.31817040C>G | CA363416788 | HSPA1A,HSPA1L | c.1284C>G (p.Phe428Leu) c.789C>G (p.Phe263Leu) c.-14+3973G>C (n.-14+3973G>C) | |
6 | g.31817040C>T | CA449806290 | HSPA1A,HSPA1L | c.1284C>T (p.Phe428=) c.789C>T (p.Phe263=) c.-14+3973G>A (n.-14+3973G>A) |