Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6291920del | CA1435768944 | WFS1 | c.635del (p.Gly212GlufsTer?) c.612del c.386del (p.Gly129GlufsTer?) c.434del (p.Gly145GlufsTer?) c.232del n.820del c.644del (p.Gly215GlufsTer?) | dbSNP |
4 | g.6291920G>A | CA356172206 | WFS1 | c.635G>A (p.Gly212Glu) c.612G>A c.386G>A (p.Gly129Glu) c.434G>A (p.Gly145Glu) c.232G>A n.820G>A c.644G>A (p.Gly215Glu) | gnomAD v4 |
4 | g.6291920G>C | CA356172207 | WFS1 | c.635G>C (p.Gly212Ala) c.612G>C c.386G>C (p.Gly129Ala) c.434G>C (p.Gly145Ala) c.232G>C n.820G>C c.644G>C (p.Gly215Ala) | |
4 | g.6291920G>T | CA356172208 | WFS1 | c.635G>T (p.Gly212Val) c.612G>T c.386G>T (p.Gly129Val) c.434G>T (p.Gly145Val) c.232G>T n.820G>T c.644G>T (p.Gly215Val) | gnomAD v4 |
4 | g.6291921A>C | CA438211038 | WFS1 | c.636A>C (p.Gly212=) c.613A>C c.387A>C (p.Gly129=) c.435A>C (p.Gly145=) c.233A>C n.821A>C c.645A>C (p.Gly215=) | |
4 | g.6291921A>G | CA438211039 | WFS1 | c.636A>G (p.Gly212=) c.613A>G c.387A>G (p.Gly129=) c.435A>G (p.Gly145=) c.233A>G n.821A>G c.645A>G (p.Gly215=) | gnomAD v4 |
4 | g.6291921A>T | CA438211040 | WFS1 | c.636A>T (p.Gly212=) c.613A>T c.387A>T (p.Gly129=) c.435A>T (p.Gly145=) c.233A>T n.821A>T c.645A>T (p.Gly215=) | |
4 | g.6291922G>A | CA356172209 | WFS1 | c.637G>A (p.Gly213Arg) c.614G>A c.388G>A (p.Gly130Arg) c.436G>A (p.Gly146Arg) c.234G>A n.822G>A c.646G>A (p.Gly216Arg) | gnomAD v4 |
4 | g.6291922G>C | CA356172210 | WFS1 | c.637G>C (p.Gly213Arg) c.614G>C c.388G>C (p.Gly130Arg) c.436G>C (p.Gly146Arg) c.234G>C n.822G>C c.646G>C (p.Gly216Arg) | |
4 | g.6291922G>T | CA356172211 | WFS1 | c.637G>T (p.Gly213Trp) c.614G>T c.388G>T (p.Gly130Trp) c.436G>T (p.Gly146Trp) c.234G>T n.822G>T c.646G>T (p.Gly216Trp) | gnomAD v4 |
4 | g.6291923G>A | CA2838982 | WFS1 | c.638G>A (p.Gly213Glu) c.615G>A c.389G>A (p.Gly130Glu) c.437G>A (p.Gly146Glu) c.235G>A n.823G>A c.647G>A (p.Gly216Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291923G>C | CA356172212 | WFS1 | c.638G>C (p.Gly213Ala) c.615G>C c.389G>C (p.Gly130Ala) c.437G>C (p.Gly146Ala) c.235G>C n.823G>C c.647G>C (p.Gly216Ala) | |
4 | g.6291923G= | CA1435768946 | WFS1 | c.638G= (p.Gly213=) c.615G= c.389G= (p.Gly130=) c.437G= (p.Gly146=) c.235G= n.823G= c.647G= (p.Gly216=) | |
4 | g.6291923G>T | CA356172213 | WFS1 | c.638G>T (p.Gly213Val) c.615G>T c.389G>T (p.Gly130Val) c.437G>T (p.Gly146Val) c.235G>T n.823G>T c.647G>T (p.Gly216Val) | |
4 | g.6291924_6291927del | CA2586973597 | WFS1 | c.639_642del (p.Ala214SerfsTer?) c.616_619del c.390_393del (p.Ala131SerfsTer?) c.438_441del (p.Ala147SerfsTer?) c.236_239del n.824_827del c.648_651del (p.Ala217SerfsTer?) | |
4 | g.6291924G>A | CA438211041 | WFS1 | c.639G>A (p.Gly213=) c.616G>A c.390G>A (p.Gly130=) c.438G>A (p.Gly146=) c.236G>A n.824G>A c.648G>A (p.Gly216=) | |
4 | g.6291924G>C | CA438211042 | WFS1 | c.639G>C (p.Gly213=) c.616G>C c.390G>C (p.Gly130=) c.438G>C (p.Gly146=) c.236G>C n.824G>C c.648G>C (p.Gly216=) | |
4 | g.6291924G>T | CA438211043 | WFS1 | c.639G>T (p.Gly213=) c.616G>T c.390G>T (p.Gly130=) c.438G>T (p.Gly146=) c.236G>T n.824G>T c.648G>T (p.Gly216=) | |
4 | g.6291925G>A | CA356172214 | WFS1 | c.640G>A (p.Ala214Thr) c.617G>A c.391G>A (p.Ala131Thr) c.439G>A (p.Ala147Thr) c.237G>A n.825G>A c.649G>A (p.Ala217Thr) | |
4 | g.6291925G>C | CA356172215 | WFS1 | c.640G>C (p.Ala214Pro) c.617G>C c.391G>C (p.Ala131Pro) c.439G>C (p.Ala147Pro) c.237G>C n.825G>C c.649G>C (p.Ala217Pro) | |
4 | g.6291925G>T | CA356172216 | WFS1 | c.640G>T (p.Ala214Ser) c.617G>T c.391G>T (p.Ala131Ser) c.439G>T (p.Ala147Ser) c.237G>T n.825G>T c.649G>T (p.Ala217Ser) | |
4 | g.6291926C>A | CA356172217 | WFS1 | c.641C>A (p.Ala214Glu) c.618C>A c.392C>A (p.Ala131Glu) c.440C>A (p.Ala147Glu) c.238C>A n.826C>A c.650C>A (p.Ala217Glu) | |
4 | g.6291926C= | CA1435768947 | WFS1 | c.641C= (p.Ala214=) c.618C= c.392C= (p.Ala131=) c.440C= (p.Ala147=) c.238C= n.826C= c.650C= (p.Ala217=) | |
4 | g.6291926C>G | CA356172218 | WFS1 | c.641C>G (p.Ala214Gly) c.618C>G c.392C>G (p.Ala131Gly) c.440C>G (p.Ala147Gly) c.238C>G n.826C>G c.650C>G (p.Ala217Gly) | ClinVar dbSNP |
4 | g.6291926C>T | CA2838983 | WFS1 | c.641C>T (p.Ala214Val) c.618C>T c.392C>T (p.Ala131Val) c.440C>T (p.Ala147Val) c.238C>T n.826C>T c.650C>T (p.Ala217Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291927G>A | CA2838984 | WFS1 | c.642G>A (p.Ala214=) c.619G>A c.393G>A (p.Ala131=) c.441G>A (p.Ala147=) c.239G>A n.827G>A c.651G>A (p.Ala217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291927G>C | CA438211044 | WFS1 | c.642G>C (p.Ala214=) c.619G>C c.393G>C (p.Ala131=) c.441G>C (p.Ala147=) c.239G>C n.827G>C c.651G>C (p.Ala217=) | |
4 | g.6291927G= | CA1435768948 | WFS1 | c.642G= (p.Ala214=) c.619G= c.393G= (p.Ala131=) c.441G= (p.Ala147=) c.239G= n.827G= c.651G= (p.Ala217=) | |
4 | g.6291927G>T | CA438211045 | WFS1 | c.642G>T (p.Ala214=) c.619G>T c.393G>T (p.Ala131=) c.441G>T (p.Ala147=) c.239G>T n.827G>T c.651G>T (p.Ala217=) | |
4 | g.6291928C>A | CA356172220 | WFS1 | c.643C>A (p.Gln215Lys) c.620C>A c.394C>A (p.Gln132Lys) c.442C>A (p.Gln148Lys) c.240C>A n.828C>A c.652C>A (p.Gln218Lys) | |
4 | g.6291928C= | CA1435768949 | WFS1 | c.643C= (p.Gln215=) c.620C= c.394C= (p.Gln132=) c.442C= (p.Gln148=) c.240C= n.828C= c.652C= (p.Gln218=) | |
4 | g.6291928C>G | CA356172219 | WFS1 | c.643C>G (p.Gln215Glu) c.620C>G c.394C>G (p.Gln132Glu) c.442C>G (p.Gln148Glu) c.240C>G n.828C>G c.652C>G (p.Gln218Glu) | |
4 | g.6291928C>T | CA2838985 | WFS1 | c.643C>T (p.Gln215Ter) c.620C>T c.394C>T (p.Gln132Ter) c.442C>T (p.Gln148Ter) c.240C>T n.828C>T c.652C>T (p.Gln218Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291931_6291934del | CA2578035779 | WFS1 | c.646_649del (p.Pro216AlafsTer?) c.623_626del c.397_400del (p.Pro133AlafsTer?) c.445_448del (p.Pro149AlafsTer?) c.243_246del n.831_834del c.655_658del (p.Pro219AlafsTer?) | gnomAD v4 |
4 | g.6291929A>C | CA356172221 | WFS1 | c.644A>C (p.Gln215Pro) c.621A>C c.395A>C (p.Gln132Pro) c.443A>C (p.Gln148Pro) c.241A>C n.829A>C c.653A>C (p.Gln218Pro) | |
4 | g.6291929A>G | CA356172222 | WFS1 | c.644A>G (p.Gln215Arg) c.621A>G c.395A>G (p.Gln132Arg) c.443A>G (p.Gln148Arg) c.241A>G n.829A>G c.653A>G (p.Gln218Arg) | |
4 | g.6291929A>T | CA356172223 | WFS1 | c.644A>T (p.Gln215Leu) c.621A>T c.395A>T (p.Gln132Leu) c.443A>T (p.Gln148Leu) c.241A>T n.829A>T c.653A>T (p.Gln218Leu) | |
4 | g.6291930G>A | CA438211046 | WFS1 | c.645G>A (p.Gln215=) c.622G>A c.396G>A (p.Gln132=) c.444G>A (p.Gln148=) c.242G>A n.830G>A c.654G>A (p.Gln218=) | gnomAD v4 |
4 | g.6291930G>C | CA356172224 | WFS1 | c.645G>C (p.Gln215His) c.622G>C c.396G>C (p.Gln132His) c.444G>C (p.Gln148His) c.242G>C n.830G>C c.654G>C (p.Gln218His) | |
4 | g.6291930G>T | CA356172225 | WFS1 | c.645G>T (p.Gln215His) c.622G>T c.396G>T (p.Gln132His) c.444G>T (p.Gln148His) c.242G>T n.830G>T c.654G>T (p.Gln218His) | gnomAD v4 |
4 | g.6291931C>A | CA356172226 | WFS1 | c.646C>A (p.Pro216Thr) c.623C>A c.397C>A (p.Pro133Thr) c.445C>A (p.Pro149Thr) c.243C>A n.831C>A c.655C>A (p.Pro219Thr) | gnomAD v4 |
4 | g.6291931C>G | CA356172227 | WFS1 | c.646C>G (p.Pro216Ala) c.623C>G c.397C>G (p.Pro133Ala) c.445C>G (p.Pro149Ala) c.243C>G n.831C>G c.655C>G (p.Pro219Ala) | |
4 | g.6291931C>T | CA356172228 | WFS1 | c.646C>T (p.Pro216Ser) c.623C>T c.397C>T (p.Pro133Ser) c.445C>T (p.Pro149Ser) c.243C>T n.831C>T c.655C>T (p.Pro219Ser) | dbSNP gnomAD v4 |
4 | g.6291932C>A | CA356172229 | WFS1 | c.647C>A (p.Pro216Gln) c.624C>A c.398C>A (p.Pro133Gln) c.446C>A (p.Pro149Gln) c.244C>A n.832C>A c.656C>A (p.Pro219Gln) | |
4 | g.6291932C= | CA1435768950 | WFS1 | c.647C= (p.Pro216=) c.624C= c.398C= (p.Pro133=) c.446C= (p.Pro149=) c.244C= n.832C= c.656C= (p.Pro219=) | |
4 | g.6291932C>G | CA2838986 | WFS1 | c.647C>G (p.Pro216Arg) c.624C>G c.398C>G (p.Pro133Arg) c.446C>G (p.Pro149Arg) c.244C>G n.832C>G c.656C>G (p.Pro219Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291932C>T | CA356172230 | WFS1 | c.647C>T (p.Pro216Leu) c.624C>T c.398C>T (p.Pro133Leu) c.446C>T (p.Pro149Leu) c.244C>T n.832C>T c.656C>T (p.Pro219Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291933A>C | CA438211047 | WFS1 | c.648A>C (p.Pro216=) c.625A>C c.399A>C (p.Pro133=) c.447A>C (p.Pro149=) c.245A>C n.833A>C c.657A>C (p.Pro219=) | |
4 | g.6291933A>G | CA438211048 | WFS1 | c.648A>G (p.Pro216=) c.625A>G c.399A>G (p.Pro133=) c.447A>G (p.Pro149=) c.245A>G n.833A>G c.657A>G (p.Pro219=) | |
4 | g.6291933A>T | CA438211049 | WFS1 | c.648A>T (p.Pro216=) c.625A>T c.399A>T (p.Pro133=) c.447A>T (p.Pro149=) c.245A>T n.833A>T c.657A>T (p.Pro219=) | |
4 | g.6291934G>A | CA356172231 | WFS1 | c.649G>A (p.Gly217Ser) c.626G>A c.400G>A (p.Gly134Ser) c.448G>A (p.Gly150Ser) c.246G>A n.834G>A c.658G>A (p.Gly220Ser) | |
4 | g.6291934G>C | CA356172233 | WFS1 | c.649G>C (p.Gly217Arg) c.626G>C c.400G>C (p.Gly134Arg) c.448G>C (p.Gly150Arg) c.246G>C n.834G>C c.658G>C (p.Gly220Arg) | |
4 | g.6291934G>T | CA356172232 | WFS1 | c.649G>T (p.Gly217Cys) c.626G>T c.400G>T (p.Gly134Cys) c.448G>T (p.Gly150Cys) c.246G>T n.834G>T c.658G>T (p.Gly220Cys) | gnomAD v4 |
4 | g.6291935G>A | CA356172234 | WFS1 | c.650G>A (p.Gly217Asp) c.627G>A c.401G>A (p.Gly134Asp) c.449G>A (p.Gly150Asp) c.247G>A n.835G>A c.659G>A (p.Gly220Asp) | |
4 | g.6291935G>C | CA356172235 | WFS1 | c.650G>C (p.Gly217Ala) c.627G>C c.401G>C (p.Gly134Ala) c.449G>C (p.Gly150Ala) c.247G>C n.835G>C c.659G>C (p.Gly220Ala) | |
4 | g.6291935G= | CA1435768951 | WFS1 | c.650G= (p.Gly217=) c.627G= c.401G= (p.Gly134=) c.449G= (p.Gly150=) c.247G= n.835G= c.659G= (p.Gly220=) | |
4 | g.6291935G>T | CA356172236 | WFS1 | c.650G>T (p.Gly217Val) c.627G>T c.401G>T (p.Gly134Val) c.449G>T (p.Gly150Val) c.247G>T n.835G>T c.659G>T (p.Gly220Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291936C>A | CA438211053 | WFS1 | c.651C>A (p.Gly217=) c.628C>A c.402C>A (p.Gly134=) c.450C>A (p.Gly150=) c.248C>A n.836C>A c.660C>A (p.Gly220=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291936C= | CA1435768952 | WFS1 | c.651C= (p.Gly217=) c.628C= c.402C= (p.Gly134=) c.450C= (p.Gly150=) c.248C= n.836C= c.660C= (p.Gly220=) | |
4 | g.6291936C>G | CA438211052 | WFS1 | c.651C>G (p.Gly217=) c.628C>G c.402C>G (p.Gly134=) c.450C>G (p.Gly150=) c.248C>G n.836C>G c.660C>G (p.Gly220=) | |
4 | g.6291936C>T | CA438211051 | WFS1 | c.651C>T (p.Gly217=) c.628C>T c.402C>T (p.Gly134=) c.450C>T (p.Gly150=) c.248C>T n.836C>T c.660C>T (p.Gly220=) | |
4 | g.6291939del | CA2586973598 | WFS1 | c.654del (p.Val219CysfsTer?) c.631del c.405del (p.Val136CysfsTer?) c.453del (p.Val152CysfsTer?) c.251del n.839del c.663del (p.Val222CysfsTer?) | |
4 | g.6291937C>A | CA356172237 | WFS1 | c.652C>A (p.Pro218Thr) c.629C>A c.403C>A (p.Pro135Thr) c.451C>A (p.Pro151Thr) c.249C>A n.837C>A c.661C>A (p.Pro221Thr) | |
4 | g.6291937C= | CA1435768953 | WFS1 | c.652C= (p.Pro218=) c.629C= c.403C= (p.Pro135=) c.451C= (p.Pro151=) c.249C= n.837C= c.661C= (p.Pro221=) | |
4 | g.6291937C>G | CA356172238 | WFS1 | c.652C>G (p.Pro218Ala) c.629C>G c.403C>G (p.Pro135Ala) c.451C>G (p.Pro151Ala) c.249C>G n.837C>G c.661C>G (p.Pro221Ala) | gnomAD v4 |
4 | g.6291937C>T | CA356172239 | WFS1 | c.652C>T (p.Pro218Ser) c.629C>T c.403C>T (p.Pro135Ser) c.451C>T (p.Pro151Ser) c.249C>T n.837C>T c.661C>T (p.Pro221Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291938C>A | CA356172240 | WFS1 | c.653C>A (p.Pro218His) c.630C>A c.404C>A (p.Pro135His) c.452C>A (p.Pro151His) c.250C>A n.838C>A c.662C>A (p.Pro221His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291938C= | CA1435768954 | WFS1 | c.653C= (p.Pro218=) c.630C= c.404C= (p.Pro135=) c.452C= (p.Pro151=) c.250C= n.838C= c.662C= (p.Pro221=) | |
4 | g.6291938C>G | CA356172241 | WFS1 | c.653C>G (p.Pro218Arg) c.630C>G c.404C>G (p.Pro135Arg) c.452C>G (p.Pro151Arg) c.250C>G n.838C>G c.662C>G (p.Pro221Arg) | |
4 | g.6291938C>T | CA356172242 | WFS1 | c.653C>T (p.Pro218Leu) c.630C>T c.404C>T (p.Pro135Leu) c.452C>T (p.Pro151Leu) c.250C>T n.838C>T c.662C>T (p.Pro221Leu) | dbSNP gnomAD v2 COSMIC |
4 | g.6291939C>A | CA438211054 | WFS1 | c.654C>A (p.Pro218=) c.631C>A c.405C>A (p.Pro135=) c.453C>A (p.Pro151=) c.251C>A n.839C>A c.663C>A (p.Pro221=) | gnomAD v4 |
4 | g.6291939C= | CA1435768955 | WFS1 | c.654C= (p.Pro218=) c.631C= c.405C= (p.Pro135=) c.453C= (p.Pro151=) c.251C= n.839C= c.663C= (p.Pro221=) | |
4 | g.6291939C>G | CA438211055 | WFS1 | c.654C>G (p.Pro218=) c.631C>G c.405C>G (p.Pro135=) c.453C>G (p.Pro151=) c.251C>G n.839C>G c.663C>G (p.Pro221=) | ClinVar dbSNP |
4 | g.6291939C>T | CA183810 | WFS1 | c.654C>T (p.Pro218=) c.631C>T c.405C>T (p.Pro135=) c.453C>T (p.Pro151=) c.251C>T n.839C>T c.663C>T (p.Pro221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291940G>A | CA2838987 | WFS1 | c.655G>A (p.Val219Met) c.632G>A c.406G>A (p.Val136Met) c.454G>A (p.Val152Met) c.252G>A n.840G>A c.664G>A (p.Val222Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291940G>C | CA356172244 | WFS1 | c.655G>C (p.Val219Leu) c.632G>C c.406G>C (p.Val136Leu) c.454G>C (p.Val152Leu) c.252G>C n.840G>C c.664G>C (p.Val222Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291940G= | CA1435768956 | WFS1 | c.655G= (p.Val219=) c.632G= c.406G= (p.Val136=) c.454G= (p.Val152=) c.252G= n.840G= c.664G= (p.Val222=) | |
4 | g.6291940G>T | CA356172243 | WFS1 | c.655G>T (p.Val219Leu) c.632G>T c.406G>T (p.Val136Leu) c.454G>T (p.Val152Leu) c.252G>T n.840G>T c.664G>T (p.Val222Leu) | |
4 | g.6291941T>A | CA356172245 | WFS1 | c.656T>A (p.Val219Glu) c.633T>A c.407T>A (p.Val136Glu) c.455T>A (p.Val152Glu) c.253T>A n.841T>A c.665T>A (p.Val222Glu) | |
4 | g.6291941T>C | CA2838988 | WFS1 | c.656T>C (p.Val219Ala) c.633T>C c.407T>C (p.Val136Ala) c.455T>C (p.Val152Ala) c.253T>C n.841T>C c.665T>C (p.Val222Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291941T>G | CA356172246 | WFS1 | c.656T>G (p.Val219Gly) c.633T>G c.407T>G (p.Val136Gly) c.455T>G (p.Val152Gly) c.253T>G n.841T>G c.665T>G (p.Val222Gly) | |
4 | g.6291941T= | CA1435768957 | WFS1 | c.656T= (p.Val219=) c.633T= c.407T= (p.Val136=) c.455T= (p.Val152=) c.253T= n.841T= c.665T= (p.Val222=) | |
4 | g.6291942G>A | CA438211056 | WFS1 | c.657G>A (p.Val219=) c.634G>A c.408G>A (p.Val136=) c.456G>A (p.Val152=) c.254G>A n.842G>A c.666G>A (p.Val222=) | dbSNP |
4 | g.6291942G>C | CA438211058 | WFS1 | c.657G>C (p.Val219=) c.634G>C c.408G>C (p.Val136=) c.456G>C (p.Val152=) c.254G>C n.842G>C c.666G>C (p.Val222=) | |
4 | g.6291942G= | CA1435768958 | WFS1 | c.657G= (p.Val219=) c.634G= c.408G= (p.Val136=) c.456G= (p.Val152=) c.254G= n.842G= c.666G= (p.Val222=) | |
4 | g.6291942G>T | CA438211057 | WFS1 | c.657G>T (p.Val219=) c.634G>T c.408G>T (p.Val136=) c.456G>T (p.Val152=) c.254G>T n.842G>T c.666G>T (p.Val222=) | gnomAD v4 |
4 | g.6291943C>A | CA356172247 | WFS1 | c.658C>A (p.Pro220Thr) c.635C>A c.409C>A (p.Pro137Thr) c.457C>A (p.Pro153Thr) c.255C>A n.843C>A c.667C>A (p.Pro223Thr) | |
4 | g.6291943C>G | CA356172248 | WFS1 | c.658C>G (p.Pro220Ala) c.635C>G c.409C>G (p.Pro137Ala) c.457C>G (p.Pro153Ala) c.255C>G n.843C>G c.667C>G (p.Pro223Ala) | |
4 | g.6291943C>T | CA356172249 | WFS1 | c.658C>T (p.Pro220Ser) c.635C>T c.409C>T (p.Pro137Ser) c.457C>T (p.Pro153Ser) c.255C>T n.843C>T c.667C>T (p.Pro223Ser) | gnomAD v4 |
4 | g.6291944C>A | CA356172250 | WFS1 | c.659C>A (p.Pro220His) c.636C>A c.410C>A (p.Pro137His) c.458C>A (p.Pro153His) c.256C>A n.844C>A c.668C>A (p.Pro223His) | |
4 | g.6291944C>G | CA356172251 | WFS1 | c.659C>G (p.Pro220Arg) c.636C>G c.410C>G (p.Pro137Arg) c.458C>G (p.Pro153Arg) c.256C>G n.844C>G c.668C>G (p.Pro223Arg) | |
4 | g.6291944C>T | CA356172252 | WFS1 | c.659C>T (p.Pro220Leu) c.636C>T c.410C>T (p.Pro137Leu) c.458C>T (p.Pro153Leu) c.256C>T n.844C>T c.668C>T (p.Pro223Leu) | gnomAD v4 |
4 | g.6291945C>A | CA438211059 | WFS1 | c.660C>A (p.Pro220=) c.637C>A c.411C>A (p.Pro137=) c.459C>A (p.Pro153=) c.257C>A n.845C>A c.669C>A (p.Pro223=) | gnomAD v4 |
4 | g.6291945C= | CA1435768959 | WFS1 | c.660C= (p.Pro220=) c.637C= c.411C= (p.Pro137=) c.459C= (p.Pro153=) c.257C= n.845C= c.669C= (p.Pro223=) | |
4 | g.6291945C>G | CA438211060 | WFS1 | c.660C>G (p.Pro220=) c.637C>G c.411C>G (p.Pro137=) c.459C>G (p.Pro153=) c.257C>G n.845C>G c.669C>G (p.Pro223=) | |
4 | g.6291945C>T | CA2838989 | WFS1 | c.660C>T (p.Pro220=) c.637C>T c.411C>T (p.Pro137=) c.459C>T (p.Pro153=) c.257C>T n.845C>T c.669C>T (p.Pro223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291946A>C | CA356172253 | WFS1 | c.661A>C (p.Lys221Gln) c.638A>C c.412A>C (p.Lys138Gln) c.460A>C (p.Lys154Gln) c.258A>C n.846A>C c.670A>C (p.Lys224Gln) | |
4 | g.6291946A>G | CA356172254 | WFS1 | c.661A>G (p.Lys221Glu) c.638A>G c.412A>G (p.Lys138Glu) c.460A>G (p.Lys154Glu) c.258A>G n.846A>G c.670A>G (p.Lys224Glu) | |
4 | g.6291946A>T | CA356172255 | WFS1 | c.661A>T (p.Lys221Ter) c.638A>T c.412A>T (p.Lys138Ter) c.460A>T (p.Lys154Ter) c.258A>T n.846A>T c.670A>T (p.Lys224Ter) | gnomAD v4 |
4 | g.6291947A= | CA1435768960 | WFS1 | c.662A= (p.Lys221=) c.639A= c.413A= (p.Lys138=) c.461A= (p.Lys154=) c.259A= n.847A= c.671A= (p.Lys224=) | |
4 | g.6291947A>C | CA356172257 | WFS1 | c.662A>C (p.Lys221Thr) c.639A>C c.413A>C (p.Lys138Thr) c.461A>C (p.Lys154Thr) c.259A>C n.847A>C c.671A>C (p.Lys224Thr) | ClinVar gnomAD v4 |
4 | g.6291947A>G | CA2838990 | WFS1 | c.662A>G (p.Lys221Arg) c.639A>G c.413A>G (p.Lys138Arg) c.461A>G (p.Lys154Arg) c.259A>G n.847A>G c.671A>G (p.Lys224Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291947A>T | CA356172256 | WFS1 | c.662A>T (p.Lys221Met) c.639A>T c.413A>T (p.Lys138Met) c.461A>T (p.Lys154Met) c.259A>T n.847A>T c.671A>T (p.Lys224Met) | |
4 | g.6291948G>A | CA438211061 | WFS1 | c.663G>A (p.Lys221=) c.640G>A c.414G>A (p.Lys138=) c.462G>A (p.Lys154=) c.260G>A n.848G>A c.672G>A (p.Lys224=) | |
4 | g.6291948G>C | CA356172258 | WFS1 | c.663G>C (p.Lys221Asn) c.640G>C c.414G>C (p.Lys138Asn) c.462G>C (p.Lys154Asn) c.260G>C n.848G>C c.672G>C (p.Lys224Asn) | ClinVar dbSNP gnomAD v4 |
4 | g.6291948G>T | CA356172259 | WFS1 | c.663G>T (p.Lys221Asn) c.640G>T c.414G>T (p.Lys138Asn) c.462G>T (p.Lys154Asn) c.260G>T n.848G>T c.672G>T (p.Lys224Asn) | |
4 | g.6291949T>A | CA356172260 | WFS1 | c.664T>A (p.Ser222Thr) c.641T>A c.415T>A (p.Ser139Thr) c.463T>A (p.Ser155Thr) c.261T>A n.849T>A c.673T>A (p.Ser225Thr) | |
4 | g.6291949T>C | CA356172261 | WFS1 | c.664T>C (p.Ser222Pro) c.641T>C c.415T>C (p.Ser139Pro) c.463T>C (p.Ser155Pro) c.261T>C n.849T>C c.673T>C (p.Ser225Pro) | |
4 | g.6291949T>G | CA356172262 | WFS1 | c.664T>G (p.Ser222Ala) c.641T>G c.415T>G (p.Ser139Ala) c.463T>G (p.Ser155Ala) c.261T>G n.849T>G c.673T>G (p.Ser225Ala) | |
4 | g.6291950C>A | CA356172263 | WFS1 | c.665C>A (p.Ser222Tyr) c.642C>A c.416C>A (p.Ser139Tyr) c.464C>A (p.Ser155Tyr) c.262C>A n.850C>A c.674C>A (p.Ser225Tyr) | ClinVar dbSNP gnomAD v4 |
4 | g.6291950C= | CA1435768961 | WFS1 | c.665C= (p.Ser222=) c.642C= c.416C= (p.Ser139=) c.464C= (p.Ser155=) c.262C= n.850C= c.674C= (p.Ser225=) | |
4 | g.6291950C>G | CA356172264 | WFS1 | c.665C>G (p.Ser222Cys) c.642C>G c.416C>G (p.Ser139Cys) c.464C>G (p.Ser155Cys) c.262C>G n.850C>G c.674C>G (p.Ser225Cys) | |
4 | g.6291950C>T | CA356172265 | WFS1 | c.665C>T (p.Ser222Phe) c.642C>T c.416C>T (p.Ser139Phe) c.464C>T (p.Ser155Phe) c.262C>T n.850C>T c.674C>T (p.Ser225Phe) | COSMIC |
4 | g.6291950_6291951delinsTT | CA645523665 | WFS1 | c.665_666delinsTT (p.Ser222Phe) c.642_643delinsTT c.416_417delinsTT (p.Ser139Phe) c.464_465delinsTT (p.Ser155Phe) c.262_263delinsTT n.850_851delinsTT c.674_675delinsTT (p.Ser225Phe) | COSMIC |
4 | g.6291951C>A | CA438211062 | WFS1 | c.666C>A (p.Ser222=) c.643C>A c.417C>A (p.Ser139=) c.465C>A (p.Ser155=) c.263C>A n.851C>A c.675C>A (p.Ser225=) | gnomAD v4 |
4 | g.6291951C= | CA1435768962 | WFS1 | c.666C= (p.Ser222=) c.643C= c.417C= (p.Ser139=) c.465C= (p.Ser155=) c.263C= n.851C= c.675C= (p.Ser225=) | |
4 | g.6291951C>G | CA438211063 | WFS1 | c.666C>G (p.Ser222=) c.643C>G c.417C>G (p.Ser139=) c.465C>G (p.Ser155=) c.263C>G n.851C>G c.675C>G (p.Ser225=) | |
4 | g.6291951C>T | CA91794669 | WFS1 | c.666C>T (p.Ser222=) c.643C>T c.417C>T (p.Ser139=) c.465C>T (p.Ser155=) c.263C>T n.851C>T c.675C>T (p.Ser225=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291952C>A | CA16609251 | WFS1 | c.667C>A (p.Leu223Met) c.644C>A c.418C>A (p.Leu140Met) c.466C>A (p.Leu156Met) c.264C>A n.852C>A c.676C>A (p.Leu226Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6291952C= | CA1435768963 | WFS1 | c.667C= (p.Leu223=) c.644C= c.418C= (p.Leu140=) c.466C= (p.Leu156=) c.264C= n.852C= c.676C= (p.Leu226=) | |
4 | g.6291952C>G | CA356172266 | WFS1 | c.667C>G (p.Leu223Val) c.644C>G c.418C>G (p.Leu140Val) c.466C>G (p.Leu156Val) c.264C>G n.852C>G c.676C>G (p.Leu226Val) | |
4 | g.6291952C>T | CA438211064 | WFS1 | c.667C>T (p.Leu223=) c.644C>T c.418C>T (p.Leu140=) c.466C>T (p.Leu156=) c.264C>T n.852C>T c.676C>T (p.Leu226=) | ClinVar |
4 | g.6291953T>A | CA356172269 | WFS1 | c.668T>A (p.Leu223Gln) c.645T>A c.419T>A (p.Leu140Gln) c.467T>A (p.Leu156Gln) c.265T>A n.853T>A c.677T>A (p.Leu226Gln) | |
4 | g.6291953T>C | CA356172268 | WFS1 | c.668T>C (p.Leu223Pro) c.645T>C c.419T>C (p.Leu140Pro) c.467T>C (p.Leu156Pro) c.265T>C n.853T>C c.677T>C (p.Leu226Pro) | gnomAD v4 |
4 | g.6291953T>G | CA356172267 | WFS1 | c.668T>G (p.Leu223Arg) c.645T>G c.419T>G (p.Leu140Arg) c.467T>G (p.Leu156Arg) c.265T>G n.853T>G c.677T>G (p.Leu226Arg) | |
4 | g.6291954G>A | CA438211065 | WFS1 | c.669G>A (p.Leu223=) c.646G>A c.420G>A (p.Leu140=) c.468G>A (p.Leu156=) c.266G>A n.854G>A c.678G>A (p.Leu226=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291954G>C | CA438211066 | WFS1 | c.669G>C (p.Leu223=) c.646G>C c.420G>C (p.Leu140=) c.468G>C (p.Leu156=) c.266G>C n.854G>C c.678G>C (p.Leu226=) | |
4 | g.6291954G= | CA1435768964 | WFS1 | c.669G= (p.Leu223=) c.646G= c.420G= (p.Leu140=) c.468G= (p.Leu156=) c.266G= n.854G= c.678G= (p.Leu226=) | |
4 | g.6291954G>T | CA438211067 | WFS1 | c.669G>T (p.Leu223=) c.646G>T c.420G>T (p.Leu140=) c.468G>T (p.Leu156=) c.266G>T n.854G>T c.678G>T (p.Leu226=) | gnomAD v4 |
4 | g.6291955C>A | CA356172270 | WFS1 | c.670C>A (p.Gln224Lys) c.647C>A c.421C>A (p.Gln141Lys) c.469C>A (p.Gln157Lys) c.267C>A n.855C>A c.679C>A (p.Gln227Lys) | dbSNP gnomAD v4 |
4 | g.6291955C= | CA1435768965 | WFS1 | c.670C= (p.Gln224=) c.647C= c.421C= (p.Gln141=) c.469C= (p.Gln157=) c.267C= n.855C= c.679C= (p.Gln227=) | |
4 | g.6291955C>G | CA356172272 | WFS1 | c.670C>G (p.Gln224Glu) c.647C>G c.421C>G (p.Gln141Glu) c.469C>G (p.Gln157Glu) c.267C>G n.855C>G c.679C>G (p.Gln227Glu) | |
4 | g.6291955C>T | CA356172271 | WFS1 | c.670C>T (p.Gln224Ter) c.647C>T c.421C>T (p.Gln141Ter) c.469C>T (p.Gln157Ter) c.267C>T n.855C>T c.679C>T (p.Gln227Ter) | gnomAD v4 |
4 | g.6291956A= | CA1435768966 | WFS1 | c.671A= (p.Gln224=) c.648A= c.422A= (p.Gln141=) c.470A= (p.Gln157=) c.268A= n.856A= c.680A= (p.Gln227=) | |
4 | g.6291956A>C | CA356172273 | WFS1 | c.671A>C (p.Gln224Pro) c.648A>C c.422A>C (p.Gln141Pro) c.470A>C (p.Gln157Pro) c.268A>C n.856A>C c.680A>C (p.Gln227Pro) | |
4 | g.6291956A>G | CA356172275 | WFS1 | c.671A>G (p.Gln224Arg) c.648A>G c.422A>G (p.Gln141Arg) c.470A>G (p.Gln157Arg) c.268A>G n.856A>G c.680A>G (p.Gln227Arg) | dbSNP gnomAD v2 |
4 | g.6291956A>T | CA356172274 | WFS1 | c.671A>T (p.Gln224Leu) c.648A>T c.422A>T (p.Gln141Leu) c.470A>T (p.Gln157Leu) c.268A>T n.856A>T c.680A>T (p.Gln227Leu) | |
4 | g.6291957G>A | CA438211069 | WFS1 | c.672G>A (p.Gln224=) c.649G>A c.423G>A (p.Gln141=) c.471G>A (p.Gln157=) c.269G>A n.857G>A c.681G>A (p.Gln227=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291957G>C | CA356172276 | WFS1 | c.672G>C (p.Gln224His) c.649G>C c.423G>C (p.Gln141His) c.471G>C (p.Gln157His) c.269G>C n.857G>C c.681G>C (p.Gln227His) | |
4 | g.6291957G= | CA1435768967 | WFS1 | c.672G= (p.Gln224=) c.649G= c.423G= (p.Gln141=) c.471G= (p.Gln157=) c.269G= n.857G= c.681G= (p.Gln227=) | |
4 | g.6291957G>T | CA356172277 | WFS1 | c.672G>T (p.Gln224His) c.649G>T c.423G>T (p.Gln141His) c.471G>T (p.Gln157His) c.269G>T n.857G>T c.681G>T (p.Gln227His) | gnomAD v4 |
4 | g.6291958A= | CA1435768968 | WFS1 | c.673A= (p.Lys225=) c.650A= c.424A= (p.Lys142=) c.472A= (p.Lys158=) c.270A= n.858A= c.682A= (p.Lys228=) | |
4 | g.6291958A>C | CA356172278 | WFS1 | c.673A>C (p.Lys225Gln) c.650A>C c.424A>C (p.Lys142Gln) c.472A>C (p.Lys158Gln) c.270A>C n.858A>C c.682A>C (p.Lys228Gln) | dbSNP |
4 | g.6291958A>G | CA356172279 | WFS1 | c.673A>G (p.Lys225Glu) c.650A>G c.424A>G (p.Lys142Glu) c.472A>G (p.Lys158Glu) c.270A>G n.858A>G c.682A>G (p.Lys228Glu) | ClinVar dbSNP |
4 | g.6291958A>T | CA356172280 | WFS1 | c.673A>T (p.Lys225Ter) c.650A>T c.424A>T (p.Lys142Ter) c.472A>T (p.Lys158Ter) c.270A>T n.858A>T c.682A>T (p.Lys228Ter) | |
4 | g.6291959A>C | CA356172281 | WFS1 | c.674A>C (p.Lys225Thr) c.651A>C c.425A>C (p.Lys142Thr) c.473A>C (p.Lys158Thr) c.271A>C n.859A>C c.683A>C (p.Lys228Thr) | |
4 | g.6291959A>G | CA356172282 | WFS1 | c.674A>G (p.Lys225Arg) c.651A>G c.425A>G (p.Lys142Arg) c.473A>G (p.Lys158Arg) c.271A>G n.859A>G c.683A>G (p.Lys228Arg) | |
4 | g.6291959A>T | CA356172283 | WFS1 | c.674A>T (p.Lys225Met) c.651A>T c.425A>T (p.Lys142Met) c.473A>T (p.Lys158Met) c.271A>T n.859A>T c.683A>T (p.Lys228Met) | |
4 | g.6291960G>A | CA2838991 | WFS1 | c.675G>A (p.Lys225=) c.652G>A c.426G>A (p.Lys142=) c.474G>A (p.Lys158=) c.272G>A n.860G>A c.684G>A (p.Lys228=) | dbSNP ExAC gnomAD v2 |
4 | g.6291960G>C | CA356172284 | WFS1 | c.675G>C (p.Lys225Asn) c.652G>C c.426G>C (p.Lys142Asn) c.474G>C (p.Lys158Asn) c.272G>C n.860G>C c.684G>C (p.Lys228Asn) | |
4 | g.6291960G= | CA1435768969 | WFS1 | c.675G= (p.Lys225=) c.652G= c.426G= (p.Lys142=) c.474G= (p.Lys158=) c.272G= n.860G= c.684G= (p.Lys228=) | |
4 | g.6291960G>T | CA356172285 | WFS1 | c.675G>T (p.Lys225Asn) c.652G>T c.426G>T (p.Lys142Asn) c.474G>T (p.Lys158Asn) c.272G>T n.860G>T c.684G>T (p.Lys228Asn) | gnomAD v4 |
4 | g.6291961C>A | CA356172286 | WFS1 | c.676C>A (p.Gln226Lys) c.653C>A c.427C>A (p.Gln143Lys) c.475C>A (p.Gln159Lys) c.273C>A n.861C>A c.685C>A (p.Gln229Lys) | gnomAD v4 |
4 | g.6291961C= | CA1435768970 | WFS1 | c.676C= (p.Gln226=) c.653C= c.427C= (p.Gln143=) c.475C= (p.Gln159=) c.273C= n.861C= c.685C= (p.Gln229=) | |
4 | g.6291961C>G | CA356172287 | WFS1 | c.676C>G (p.Gln226Glu) c.653C>G c.427C>G (p.Gln143Glu) c.475C>G (p.Gln159Glu) c.273C>G n.861C>G c.685C>G (p.Gln229Glu) | |
4 | g.6291961C>T | CA253192 | WFS1 | c.676C>T (p.Gln226Ter) c.653C>T c.427C>T (p.Gln143Ter) c.475C>T (p.Gln159Ter) c.273C>T n.861C>T c.685C>T (p.Gln229Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291962A>C | CA356172288 | WFS1 | c.677A>C (p.Gln226Pro) c.654A>C c.428A>C (p.Gln143Pro) c.476A>C (p.Gln159Pro) c.274A>C n.862A>C c.686A>C (p.Gln229Pro) | |
4 | g.6291962A>G | CA356172290 | WFS1 | c.677A>G (p.Gln226Arg) c.654A>G c.428A>G (p.Gln143Arg) c.476A>G (p.Gln159Arg) c.274A>G n.862A>G c.686A>G (p.Gln229Arg) | |
4 | g.6291962A>T | CA356172289 | WFS1 | c.677A>T (p.Gln226Leu) c.654A>T c.428A>T (p.Gln143Leu) c.476A>T (p.Gln159Leu) c.274A>T n.862A>T c.686A>T (p.Gln229Leu) | |
4 | g.6291963G>A | CA438211071 | WFS1 | c.678G>A (p.Gln226=) c.655G>A c.429G>A (p.Gln143=) c.477G>A (p.Gln159=) c.275G>A n.863G>A c.687G>A (p.Gln229=) | |
4 | g.6291963G>C | CA356172291 | WFS1 | c.678G>C (p.Gln226His) c.655G>C c.429G>C (p.Gln143His) c.477G>C (p.Gln159His) c.275G>C n.863G>C c.687G>C (p.Gln229His) | |
4 | g.6291963G>T | CA356172292 | WFS1 | c.678G>T (p.Gln226His) c.655G>T c.429G>T (p.Gln143His) c.477G>T (p.Gln159His) c.275G>T n.863G>T c.687G>T (p.Gln229His) | |
4 | g.6291964A>C | CA438211072 | WFS1 | c.679A>C (p.Arg227=) c.656A>C c.430A>C (p.Arg144=) c.478A>C (p.Arg160=) c.276A>C n.864A>C c.688A>C (p.Arg230=) | |
4 | g.6291964A>G | CA356172293 | WFS1 | c.679A>G (p.Arg227Gly) c.656A>G c.430A>G (p.Arg144Gly) c.478A>G (p.Arg160Gly) c.276A>G n.864A>G c.688A>G (p.Arg230Gly) | gnomAD v4 |
4 | g.6291964A>T | CA356172294 | WFS1 | c.679A>T (p.Arg227Trp) c.656A>T c.430A>T (p.Arg144Trp) c.478A>T (p.Arg160Trp) c.276A>T n.864A>T c.688A>T (p.Arg230Trp) | |
4 | g.6291965G>A | CA356172295 | WFS1 | c.680G>A (p.Arg227Lys) c.657G>A c.431G>A (p.Arg144Lys) c.479G>A (p.Arg160Lys) c.277G>A n.865G>A c.689G>A (p.Arg230Lys) | |
4 | g.6291965G>C | CA356172296 | WFS1 | c.680G>C (p.Arg227Thr) c.657G>C c.431G>C (p.Arg144Thr) c.479G>C (p.Arg160Thr) c.277G>C n.865G>C c.689G>C (p.Arg230Thr) | |
4 | g.6291965G>T | CA356172297 | WFS1 | c.680G>T (p.Arg227Met) c.657G>T c.431G>T (p.Arg144Met) c.479G>T (p.Arg160Met) c.277G>T n.865G>T c.689G>T (p.Arg230Met) | |
4 | g.6291966G>A | CA438211073 | WFS1 | c.681G>A (p.Arg227=) c.658G>A c.432G>A (p.Arg144=) c.480G>A (p.Arg160=) c.278G>A n.866G>A c.690G>A (p.Arg230=) | |
4 | g.6291966G>C | CA356172298 | WFS1 | c.681G>C (p.Arg227Ser) c.658G>C c.432G>C (p.Arg144Ser) c.480G>C (p.Arg160Ser) c.278G>C n.866G>C c.690G>C (p.Arg230Ser) | |
4 | g.6291966G>T | CA356172299 | WFS1 | c.681G>T (p.Arg227Ser) c.658G>T c.432G>T (p.Arg144Ser) c.480G>T (p.Arg160Ser) c.278G>T n.866G>T c.690G>T (p.Arg230Ser) | gnomAD v4 |
4 | g.6291967C>A | CA356172300 | WFS1 | c.682C>A (p.Arg228Ser) c.659C>A c.433C>A (p.Arg145Ser) c.481C>A (p.Arg161Ser) c.279C>A n.867C>A c.691C>A (p.Arg231Ser) | gnomAD v4 |
4 | g.6291967C= | CA1435768971 | WFS1 | c.682C= (p.Arg228=) c.659C= c.433C= (p.Arg145=) c.481C= (p.Arg161=) c.279C= n.867C= c.691C= (p.Arg231=) | |
4 | g.6291967C>G | CA356172301 | WFS1 | c.682C>G (p.Arg228Gly) c.659C>G c.433C>G (p.Arg145Gly) c.481C>G (p.Arg161Gly) c.279C>G n.867C>G c.691C>G (p.Arg231Gly) | |
4 | g.6291967C>T | CA2838992 | WFS1 | c.682C>T (p.Arg228Cys) c.659C>T c.433C>T (p.Arg145Cys) c.481C>T (p.Arg161Cys) c.279C>T n.867C>T c.691C>T (p.Arg231Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6291968G>A | CA246711 | WFS1 | c.683G>A (p.Arg228His) c.660G>A c.434G>A (p.Arg145His) c.482G>A (p.Arg161His) c.280G>A n.868G>A c.692G>A (p.Arg231His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291968G>C | CA356172302 | WFS1 | c.683G>C (p.Arg228Pro) c.660G>C c.434G>C (p.Arg145Pro) c.482G>C (p.Arg161Pro) c.280G>C n.868G>C c.692G>C (p.Arg231Pro) | |
4 | g.6291968G= | CA1435768972 | WFS1 | c.683G= (p.Arg228=) c.660G= c.434G= (p.Arg145=) c.482G= (p.Arg161=) c.280G= n.868G= c.692G= (p.Arg231=) | |
4 | g.6291968G>T | CA356172303 | WFS1 | c.683G>T (p.Arg228Leu) c.660G>T c.434G>T (p.Arg145Leu) c.482G>T (p.Arg161Leu) c.280G>T n.868G>T c.692G>T (p.Arg231Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291968_6291969delinsAA | CA913185074 | WFS1 | c.683_684delinsAA (p.Arg228Gln) c.660_661delinsAA c.434_435delinsAA (p.Arg145Gln) c.482_483delinsAA (p.Arg161Gln) c.280_281delinsAA n.868_869delinsAA c.692_693delinsAA (p.Arg231Gln) | |
4 | g.6291968_6291969delinsAG | CA2573138322 | WFS1 | c.683_684delinsAG (p.Arg228Gln) c.660_661delinsAG c.434_435delinsAG (p.Arg145Gln) c.482_483delinsAG (p.Arg161Gln) c.280_281delinsAG n.868_869delinsAG c.692_693delinsAG (p.Arg231Gln) | ClinVar dbSNP |
4 | g.6291968_6291969delinsTG | CA2695199362 | WFS1 | c.683_684delinsTG (p.Arg228Leu) c.660_661delinsTG c.434_435delinsTG (p.Arg145Leu) c.482_483delinsTG (p.Arg161Leu) c.280_281delinsTG n.868_869delinsTG c.692_693delinsTG (p.Arg231Leu) | ClinVar |
4 | g.6291969C>A | CA438211074 | WFS1 | c.684C>A (p.Arg228=) c.661C>A c.435C>A (p.Arg145=) c.483C>A (p.Arg161=) c.281C>A n.869C>A c.693C>A (p.Arg231=) | dbSNP gnomAD v4 |
4 | g.6291969C= | CA1435768973 | WFS1 | c.684C= (p.Arg228=) c.661C= c.435C= (p.Arg145=) c.483C= (p.Arg161=) c.281C= n.869C= c.693C= (p.Arg231=) | |
4 | g.6291969C>G | CA136359 | WFS1 | c.684C>G (p.Arg228=) c.661C>G c.435C>G (p.Arg145=) c.483C>G (p.Arg161=) c.281C>G n.869C>G c.693C>G (p.Arg231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291969C>T | CA438211075 | WFS1 | c.684C>T (p.Arg228=) c.661C>T c.435C>T (p.Arg145=) c.483C>T (p.Arg161=) c.281C>T n.869C>T c.693C>T (p.Arg231=) | dbSNP gnomAD v4 |
4 | g.6291970A= | CA1435768974 | WFS1 | c.685A= (p.Met229=) c.662A= c.436A= (p.Met146=) c.484A= (p.Met162=) c.282A= n.870A= c.694A= (p.Met232=) | |
4 | g.6291970A>C | CA356172304 | WFS1 | c.685A>C (p.Met229Leu) c.662A>C c.436A>C (p.Met146Leu) c.484A>C (p.Met162Leu) c.282A>C n.870A>C c.694A>C (p.Met232Leu) | |
4 | g.6291970A>G | CA356172305 | WFS1 | c.685A>G (p.Met229Val) c.662A>G c.436A>G (p.Met146Val) c.484A>G (p.Met162Val) c.282A>G n.870A>G c.694A>G (p.Met232Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291970A>T | CA356172306 | WFS1 | c.685A>T (p.Met229Leu) c.662A>T c.436A>T (p.Met146Leu) c.484A>T (p.Met162Leu) c.282A>T n.870A>T c.694A>T (p.Met232Leu) | |
4 | g.6291971T>A | CA356172307 | WFS1 | c.686T>A (p.Met229Lys) c.663T>A c.437T>A (p.Met146Lys) c.485T>A (p.Met162Lys) c.283T>A n.871T>A c.695T>A (p.Met232Lys) | |
4 | g.6291971T>C | CA2838993 | WFS1 | c.686T>C (p.Met229Thr) c.663T>C c.437T>C (p.Met146Thr) c.485T>C (p.Met162Thr) c.283T>C n.871T>C c.695T>C (p.Met232Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291971T>G | CA356172308 | WFS1 | c.686T>G (p.Met229Arg) c.663T>G c.437T>G (p.Met146Arg) c.485T>G (p.Met162Arg) c.283T>G n.871T>G c.695T>G (p.Met232Arg) | |
4 | g.6291971T= | CA1435768975 | WFS1 | c.686T= (p.Met229=) c.663T= c.437T= (p.Met146=) c.485T= (p.Met162=) c.283T= n.871T= c.695T= (p.Met232=) | |
4 | g.6291972G>A | CA356172309 | WFS1 | c.687G>A (p.Met229Ile) c.664G>A c.438G>A (p.Met146Ile) c.486G>A (p.Met162Ile) c.284G>A n.872G>A c.696G>A (p.Met232Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291972G>C | CA356172310 | WFS1 | c.687G>C (p.Met229Ile) c.664G>C c.438G>C (p.Met146Ile) c.486G>C (p.Met162Ile) c.284G>C n.872G>C c.696G>C (p.Met232Ile) | dbSNP |
4 | g.6291972G= | CA1435768976 | WFS1 | c.687G= (p.Met229=) c.664G= c.438G= (p.Met146=) c.486G= (p.Met162=) c.284G= n.872G= c.696G= (p.Met232=) | |
4 | g.6291972G>T | CA356172311 | WFS1 | c.687G>T (p.Met229Ile) c.664G>T c.438G>T (p.Met146Ile) c.486G>T (p.Met162Ile) c.284G>T n.872G>T c.696G>T (p.Met232Ile) | dbSNP gnomAD v4 |
4 | g.6291973C>A | CA356172312 | WFS1 | c.688C>A (p.Leu230Met) c.665C>A c.439C>A (p.Leu147Met) c.487C>A (p.Leu163Met) c.285C>A n.873C>A c.697C>A (p.Leu233Met) | gnomAD v4 |
4 | g.6291973C>G | CA356172313 | WFS1 | c.688C>G (p.Leu230Val) c.665C>G c.439C>G (p.Leu147Val) c.487C>G (p.Leu163Val) c.285C>G n.873C>G c.697C>G (p.Leu233Val) | |
4 | g.6291973C>T | CA438211076 | WFS1 | c.688C>T (p.Leu230=) c.665C>T c.439C>T (p.Leu147=) c.487C>T (p.Leu163=) c.285C>T n.873C>T c.697C>T (p.Leu233=) | gnomAD v4 |
4 | g.6291974T>A | CA356172314 | WFS1 | c.689T>A (p.Leu230Gln) c.666T>A c.440T>A (p.Leu147Gln) c.488T>A (p.Leu163Gln) c.286T>A n.874T>A c.698T>A (p.Leu233Gln) | |
4 | g.6291974T>C | CA356172315 | WFS1 | c.689T>C (p.Leu230Pro) c.666T>C c.440T>C (p.Leu147Pro) c.488T>C (p.Leu163Pro) c.286T>C n.874T>C c.698T>C (p.Leu233Pro) | gnomAD v4 |
4 | g.6291974T>G | CA356172316 | WFS1 | c.689T>G (p.Leu230Arg) c.666T>G c.440T>G (p.Leu147Arg) c.488T>G (p.Leu163Arg) c.286T>G n.874T>G c.698T>G (p.Leu233Arg) | |
4 | g.6291975G>A | CA438211077 | WFS1 | c.690G>A (p.Leu230=) c.667G>A c.441G>A (p.Leu147=) c.489G>A (p.Leu163=) c.287G>A n.875G>A c.699G>A (p.Leu233=) | |
4 | g.6291975G>C | CA438211078 | WFS1 | c.690G>C (p.Leu230=) c.667G>C c.441G>C (p.Leu147=) c.489G>C (p.Leu163=) c.287G>C n.875G>C c.699G>C (p.Leu233=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291975G= | CA1435768977 | WFS1 | c.690G= (p.Leu230=) c.667G= c.441G= (p.Leu147=) c.489G= (p.Leu163=) c.287G= n.875G= c.699G= (p.Leu233=) | |
4 | g.6291975G>T | CA438211079 | WFS1 | c.690G>T (p.Leu230=) c.667G>T c.441G>T (p.Leu147=) c.489G>T (p.Leu163=) c.287G>T n.875G>T c.699G>T (p.Leu233=) | gnomAD v4 |
4 | g.6291976G>A | CA2838994 | WFS1 | c.691G>A (p.Glu231Lys) c.668G>A c.442G>A (p.Glu148Lys) c.490G>A (p.Glu164Lys) c.288G>A n.876G>A c.700G>A (p.Glu234Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291976G>C | CA356172317 | WFS1 | c.691G>C (p.Glu231Gln) c.668G>C c.442G>C (p.Glu148Gln) c.490G>C (p.Glu164Gln) c.288G>C n.876G>C c.700G>C (p.Glu234Gln) | |
4 | g.6291976G= | CA1435768978 | WFS1 | c.691G= (p.Glu231=) c.668G= c.442G= (p.Glu148=) c.490G= (p.Glu164=) c.288G= n.876G= c.700G= (p.Glu234=) | |
4 | g.6291976G>T | CA356172318 | WFS1 | c.691G>T (p.Glu231Ter) c.668G>T c.442G>T (p.Glu148Ter) c.490G>T (p.Glu164Ter) c.288G>T n.876G>T c.700G>T (p.Glu234Ter) | |
4 | g.6291977A= | CA1435768979 | WFS1 | c.692A= (p.Glu231=) c.669A= c.443A= (p.Glu148=) c.491A= (p.Glu164=) c.289A= n.877A= c.701A= (p.Glu234=) | |
4 | g.6291977A>C | CA356172319 | WFS1 | c.692A>C (p.Glu231Ala) c.669A>C c.443A>C (p.Glu148Ala) c.491A>C (p.Glu164Ala) c.289A>C n.877A>C c.701A>C (p.Glu234Ala) | |
4 | g.6291977A>G | CA2838995 | WFS1 | c.692A>G (p.Glu231Gly) c.669A>G c.443A>G (p.Glu148Gly) c.491A>G (p.Glu164Gly) c.289A>G n.877A>G c.701A>G (p.Glu234Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291977A>T | CA356172320 | WFS1 | c.692A>T (p.Glu231Val) c.669A>T c.443A>T (p.Glu148Val) c.491A>T (p.Glu164Val) c.289A>T n.877A>T c.701A>T (p.Glu234Val) | |
4 | g.6291978G>A | CA2838996 | WFS1 | c.693G>A (p.Glu231=) c.670G>A c.444G>A (p.Glu148=) c.492G>A (p.Glu164=) c.290G>A n.878G>A c.702G>A (p.Glu234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291978G>C | CA356172321 | WFS1 | c.693G>C (p.Glu231Asp) c.670G>C c.444G>C (p.Glu148Asp) c.492G>C (p.Glu164Asp) c.290G>C n.878G>C c.702G>C (p.Glu234Asp) | |
4 | g.6291978G= | CA1435768980 | WFS1 | c.693G= (p.Glu231=) c.670G= c.444G= (p.Glu148=) c.492G= (p.Glu164=) c.290G= n.878G= c.702G= (p.Glu234=) | |
4 | g.6291978G>T | CA356172322 | WFS1 | c.693G>T (p.Glu231Asp) c.670G>T c.444G>T (p.Glu148Asp) c.492G>T (p.Glu164Asp) c.290G>T n.878G>T c.702G>T (p.Glu234Asp) | dbSNP gnomAD v4 |
4 | g.6291979C>A | CA356172323 | WFS1 | c.694C>A (p.Arg232Ser) c.671C>A c.445C>A (p.Arg149Ser) c.493C>A (p.Arg165Ser) c.291C>A n.879C>A c.703C>A (p.Arg235Ser) | gnomAD v4 |
4 | g.6291979C= | CA1435768981 | WFS1 | c.694C= (p.Arg232=) c.671C= c.445C= (p.Arg149=) c.493C= (p.Arg165=) c.291C= n.879C= c.703C= (p.Arg235=) | |
4 | g.6291979C>G | CA356172324 | WFS1 | c.694C>G (p.Arg232Gly) c.671C>G c.445C>G (p.Arg149Gly) c.493C>G (p.Arg165Gly) c.291C>G n.879C>G c.703C>G (p.Arg235Gly) | |
4 | g.6291979C>T | CA91794670 | WFS1 | c.694C>T (p.Arg232Cys) c.671C>T c.445C>T (p.Arg149Cys) c.493C>T (p.Arg165Cys) c.291C>T n.879C>T c.703C>T (p.Arg235Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6291980G>A | CA2838997 | WFS1 | c.695G>A (p.Arg232His) c.672G>A c.446G>A (p.Arg149His) c.494G>A (p.Arg165His) c.292G>A n.880G>A c.704G>A (p.Arg235His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291980G>C | CA356172325 | WFS1 | c.695G>C (p.Arg232Pro) c.672G>C c.446G>C (p.Arg149Pro) c.494G>C (p.Arg165Pro) c.292G>C n.880G>C c.704G>C (p.Arg235Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291980G= | CA1435768982 | WFS1 | c.695G= (p.Arg232=) c.672G= c.446G= (p.Arg149=) c.494G= (p.Arg165=) c.292G= n.880G= c.704G= (p.Arg235=) | |
4 | g.6291980G>T | CA356172326 | WFS1 | c.695G>T (p.Arg232Leu) c.672G>T c.446G>T (p.Arg149Leu) c.494G>T (p.Arg165Leu) c.292G>T n.880G>T c.704G>T (p.Arg235Leu) | gnomAD v4 |
4 | g.6291981C>A | CA438211080 | WFS1 | c.696C>A (p.Arg232=) c.673C>A c.447C>A (p.Arg149=) c.495C>A (p.Arg165=) c.293C>A n.881C>A c.705C>A (p.Arg235=) | |
4 | g.6291981C= | CA1435768983 | WFS1 | c.696C= (p.Arg232=) c.673C= c.447C= (p.Arg149=) c.495C= (p.Arg165=) c.293C= n.881C= c.705C= (p.Arg235=) | |
4 | g.6291981C>G | CA438211081 | WFS1 | c.696C>G (p.Arg232=) c.673C>G c.447C>G (p.Arg149=) c.495C>G (p.Arg165=) c.293C>G n.881C>G c.705C>G (p.Arg235=) | gnomAD v4 |
4 | g.6291981C>T | CA2838998 | WFS1 | c.696C>T (p.Arg232=) c.673C>T c.447C>T (p.Arg149=) c.495C>T (p.Arg165=) c.293C>T n.881C>T c.705C>T (p.Arg235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291982C>A | CA356172327 | WFS1 | c.697C>A (p.Leu233Met) c.674C>A c.448C>A (p.Leu150Met) c.496C>A (p.Leu166Met) c.294C>A n.882C>A c.706C>A (p.Leu236Met) | |
4 | g.6291982C>G | CA356172328 | WFS1 | c.697C>G (p.Leu233Val) c.674C>G c.448C>G (p.Leu150Val) c.496C>G (p.Leu166Val) c.294C>G n.882C>G c.706C>G (p.Leu236Val) | |
4 | g.6291982C>T | CA438211082 | WFS1 | c.697C>T (p.Leu233=) c.674C>T c.448C>T (p.Leu150=) c.496C>T (p.Leu166=) c.294C>T n.882C>T c.706C>T (p.Leu236=) | |
4 | g.6291983T>A | CA356172329 | WFS1 | c.698T>A (p.Leu233Gln) c.675T>A c.449T>A (p.Leu150Gln) c.497T>A (p.Leu166Gln) c.295T>A n.883T>A c.707T>A (p.Leu236Gln) | |
4 | g.6291983T>C | CA356172330 | WFS1 | c.698T>C (p.Leu233Pro) c.675T>C c.449T>C (p.Leu150Pro) c.497T>C (p.Leu166Pro) c.295T>C n.883T>C c.707T>C (p.Leu236Pro) | gnomAD v4 |
4 | g.6291983T>G | CA356172331 | WFS1 | c.698T>G (p.Leu233Arg) c.675T>G c.449T>G (p.Leu150Arg) c.497T>G (p.Leu166Arg) c.295T>G n.883T>G c.707T>G (p.Leu236Arg) | |
4 | g.6291983_6291992del | CA2586973599 | WFS1 | c.698_707del (p.Leu233ProfsTer?) c.675_684del c.449_458del (p.Leu150ProfsTer?) c.497_506del (p.Leu166ProfsTer?) c.295_304del n.883_892del c.707_716del (p.Leu236ProfsTer?) | |
4 | g.6291984G>A | CA438211083 | WFS1 | c.699G>A (p.Leu233=) c.676G>A c.450G>A (p.Leu150=) c.498G>A (p.Leu166=) c.296G>A n.884G>A c.708G>A (p.Leu236=) | dbSNP gnomAD v4 |
4 | g.6291984G>C | CA438211085 | WFS1 | c.699G>C (p.Leu233=) c.676G>C c.450G>C (p.Leu150=) c.498G>C (p.Leu166=) c.296G>C n.884G>C c.708G>C (p.Leu236=) | |
4 | g.6291984G>T | CA438211084 | WFS1 | c.699G>T (p.Leu233=) c.676G>T c.450G>T (p.Leu150=) c.498G>T (p.Leu166=) c.296G>T n.884G>T c.708G>T (p.Leu236=) | gnomAD v4 |
4 | g.6291985G>A | CA356172332 | WFS1 | c.700G>A (p.Val234Ile) c.677G>A c.451G>A (p.Val151Ile) c.499G>A (p.Val167Ile) c.297G>A n.885G>A c.709G>A (p.Val237Ile) | |
4 | g.6291985G>C | CA356172333 | WFS1 | c.700G>C (p.Val234Leu) c.677G>C c.451G>C (p.Val151Leu) c.499G>C (p.Val167Leu) c.297G>C n.885G>C c.709G>C (p.Val237Leu) | |
4 | g.6291985G= | CA1435768984 | WFS1 | c.700G= (p.Val234=) c.677G= c.451G= (p.Val151=) c.499G= (p.Val167=) c.297G= n.885G= c.709G= (p.Val237=) | |
4 | g.6291985G>T | CA356172334 | WFS1 | c.700G>T (p.Val234Phe) c.677G>T c.451G>T (p.Val151Phe) c.499G>T (p.Val167Phe) c.297G>T n.885G>T c.709G>T (p.Val237Phe) | dbSNP gnomAD v4 |
4 | g.6291986T>A | CA356172335 | WFS1 | c.701T>A (p.Val234Asp) c.678T>A c.452T>A (p.Val151Asp) c.500T>A (p.Val167Asp) c.298T>A n.886T>A c.710T>A (p.Val237Asp) | |
4 | g.6291986T>C | CA356172336 | WFS1 | c.701T>C (p.Val234Ala) c.678T>C c.452T>C (p.Val151Ala) c.500T>C (p.Val167Ala) c.298T>C n.886T>C c.710T>C (p.Val237Ala) | |
4 | g.6291986T>G | CA356172337 | WFS1 | c.701T>G (p.Val234Gly) c.678T>G c.452T>G (p.Val151Gly) c.500T>G (p.Val167Gly) c.298T>G n.886T>G c.710T>G (p.Val237Gly) | |
4 | g.6291987C>A | CA438211086 | WFS1 | c.702C>A (p.Val234=) c.679C>A c.453C>A (p.Val151=) c.501C>A (p.Val167=) c.299C>A n.887C>A c.711C>A (p.Val237=) | |
4 | g.6291987C= | CA1435768985 | WFS1 | c.702C= (p.Val234=) c.679C= c.453C= (p.Val151=) c.501C= (p.Val167=) c.299C= n.887C= c.711C= (p.Val237=) | |
4 | g.6291987C>G | CA438211087 | WFS1 | c.702C>G (p.Val234=) c.679C>G c.453C>G (p.Val151=) c.501C>G (p.Val167=) c.299C>G n.887C>G c.711C>G (p.Val237=) | |
4 | g.6291987C>T | CA2838999 | WFS1 | c.702C>T (p.Val234=) c.679C>T c.453C>T (p.Val151=) c.501C>T (p.Val167=) c.299C>T n.887C>T c.711C>T (p.Val237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291988A>C | CA356172338 | WFS1 | c.703A>C (p.Ser235Arg) c.680A>C c.454A>C (p.Ser152Arg) c.502A>C (p.Ser168Arg) c.300A>C n.888A>C c.712A>C (p.Ser238Arg) | |
4 | g.6291988A>G | CA356172339 | WFS1 | c.703A>G (p.Ser235Gly) c.680A>G c.454A>G (p.Ser152Gly) c.502A>G (p.Ser168Gly) c.300A>G n.888A>G c.712A>G (p.Ser238Gly) | gnomAD v4 |
4 | g.6291988A>T | CA356172340 | WFS1 | c.703A>T (p.Ser235Cys) c.680A>T c.454A>T (p.Ser152Cys) c.502A>T (p.Ser168Cys) c.300A>T n.888A>T c.712A>T (p.Ser238Cys) | |
4 | g.6291989G>A | CA356172341 | WFS1 | c.704G>A (p.Ser235Asn) c.681G>A c.455G>A (p.Ser152Asn) c.503G>A (p.Ser168Asn) c.301G>A n.889G>A c.713G>A (p.Ser238Asn) | dbSNP gnomAD v2 |
4 | g.6291989G>C | CA356172342 | WFS1 | c.704G>C (p.Ser235Thr) c.681G>C c.455G>C (p.Ser152Thr) c.503G>C (p.Ser168Thr) c.301G>C n.889G>C c.713G>C (p.Ser238Thr) | gnomAD v4 |
4 | g.6291989G= | CA1435768986 | WFS1 | c.704G= (p.Ser235=) c.681G= c.455G= (p.Ser152=) c.503G= (p.Ser168=) c.301G= n.889G= c.713G= (p.Ser238=) | |
4 | g.6291989G>T | CA356172343 | WFS1 | c.704G>T (p.Ser235Ile) c.681G>T c.455G>T (p.Ser152Ile) c.503G>T (p.Ser168Ile) c.301G>T n.889G>T c.713G>T (p.Ser238Ile) | |
4 | g.6291990C>A | CA356172344 | WFS1 | c.705C>A (p.Ser235Arg) c.682C>A c.456C>A (p.Ser152Arg) c.504C>A (p.Ser168Arg) c.302C>A n.890C>A c.714C>A (p.Ser238Arg) | gnomAD v4 |
4 | g.6291990C>G | CA356172345 | WFS1 | c.705C>G (p.Ser235Arg) c.682C>G c.456C>G (p.Ser152Arg) c.504C>G (p.Ser168Arg) c.302C>G n.890C>G c.714C>G (p.Ser238Arg) | |
4 | g.6291990C>T | CA438211088 | WFS1 | c.705C>T (p.Ser235=) c.682C>T c.456C>T (p.Ser152=) c.504C>T (p.Ser168=) c.302C>T n.890C>T c.714C>T (p.Ser238=) | gnomAD v4 |
4 | g.6291991A>C | CA356172346 | WFS1 | c.706A>C (p.Ser236Arg) c.683A>C c.457A>C (p.Ser153Arg) c.505A>C (p.Ser169Arg) c.303A>C n.891A>C c.715A>C (p.Ser239Arg) | |
4 | g.6291991A>G | CA356172347 | WFS1 | c.706A>G (p.Ser236Gly) c.683A>G c.457A>G (p.Ser153Gly) c.505A>G (p.Ser169Gly) c.303A>G n.891A>G c.715A>G (p.Ser239Gly) | |
4 | g.6291991A>T | CA356172348 | WFS1 | c.706A>T (p.Ser236Cys) c.683A>T c.457A>T (p.Ser153Cys) c.505A>T (p.Ser169Cys) c.303A>T n.891A>T c.715A>T (p.Ser239Cys) | |
4 | g.6291992G>A | CA356172349 | WFS1 | c.707G>A (p.Ser236Asn) c.684G>A c.458G>A (p.Ser153Asn) c.506G>A (p.Ser169Asn) c.304G>A n.892G>A c.716G>A (p.Ser239Asn) | gnomAD v4 |
4 | g.6291992G>C | CA356172350 | WFS1 | c.707G>C (p.Ser236Thr) c.684G>C c.458G>C (p.Ser153Thr) c.506G>C (p.Ser169Thr) c.304G>C n.892G>C c.716G>C (p.Ser239Thr) | |
4 | g.6291992G>T | CA356172351 | WFS1 | c.707G>T (p.Ser236Ile) c.684G>T c.458G>T (p.Ser153Ile) c.506G>T (p.Ser169Ile) c.304G>T n.892G>T c.716G>T (p.Ser239Ile) | |
4 | g.6291993C>A | CA356172352 | WFS1 | c.708C>A (p.Ser236Arg) c.685C>A c.459C>A (p.Ser153Arg) c.507C>A (p.Ser169Arg) c.305C>A n.893C>A c.717C>A (p.Ser239Arg) | gnomAD v4 |
4 | g.6291993C= | CA1435768987 | WFS1 | c.708C= (p.Ser236=) c.685C= c.459C= (p.Ser153=) c.507C= (p.Ser169=) c.305C= n.893C= c.717C= (p.Ser239=) | |
4 | g.6291993C>G | CA356172353 | WFS1 | c.708C>G (p.Ser236Arg) c.685C>G c.459C>G (p.Ser153Arg) c.507C>G (p.Ser169Arg) c.305C>G n.893C>G c.717C>G (p.Ser239Arg) | |
4 | g.6291993C>T | CA2839000 | WFS1 | c.708C>T (p.Ser236=) c.685C>T c.459C>T (p.Ser153=) c.507C>T (p.Ser169=) c.305C>T n.893C>T c.717C>T (p.Ser239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6291993_6291994delinsCG | CA1435768988 | WFS1 | c.708_709delinsCG (p.Ser236=) c.685_686delinsCG c.459_460delinsCG (p.Ser153=) c.507_508delinsCG (p.Ser169=) c.305_306delinsCG n.893_894delinsCG c.717_718delinsCG (p.Ser239=) | |
4 | g.6291994del | CA1435768989 | WFS1 | c.709del (p.Glu237SerfsTer?) c.686del c.460del (p.Glu154SerfsTer?) c.508del (p.Glu170SerfsTer?) c.306del n.894del c.718del (p.Glu240SerfsTer?) | dbSNP |
4 | g.6291994G>A | CA2839001 | WFS1 | c.709G>A (p.Glu237Lys) c.686G>A c.460G>A (p.Glu154Lys) c.508G>A (p.Glu170Lys) c.306G>A n.894G>A c.718G>A (p.Glu240Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291994G>C | CA356172354 | WFS1 | c.709G>C (p.Glu237Gln) c.686G>C c.460G>C (p.Glu154Gln) c.508G>C (p.Glu170Gln) c.306G>C n.894G>C c.718G>C (p.Glu240Gln) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6291994G= | CA1435768990 | WFS1 | c.709G= (p.Glu237=) c.686G= c.460G= (p.Glu154=) c.508G= (p.Glu170=) c.306G= n.894G= c.718G= (p.Glu240=) | |
4 | g.6291994G>T | CA356172355 | WFS1 | c.709G>T (p.Glu237Ter) c.686G>T c.460G>T (p.Glu154Ter) c.508G>T (p.Glu170Ter) c.306G>T n.894G>T c.718G>T (p.Glu240Ter) | gnomAD v4 |
4 | g.6291995A>C | CA356172356 | WFS1 | c.710A>C (p.Glu237Ala) c.687A>C c.461A>C (p.Glu154Ala) c.509A>C (p.Glu170Ala) c.307A>C n.895A>C c.719A>C (p.Glu240Ala) | COSMIC |
4 | g.6291995A>G | CA356172357 | WFS1 | c.710A>G (p.Glu237Gly) c.687A>G c.461A>G (p.Glu154Gly) c.509A>G (p.Glu170Gly) c.307A>G n.895A>G c.719A>G (p.Glu240Gly) | |
4 | g.6291995A>T | CA356172358 | WFS1 | c.710A>T (p.Glu237Val) c.687A>T c.461A>T (p.Glu154Val) c.509A>T (p.Glu170Val) c.307A>T n.895A>T c.719A>T (p.Glu240Val) | |
4 | g.6291996G>A | CA438211089 | WFS1 | c.711G>A (p.Glu237=) c.688G>A c.462G>A (p.Glu154=) c.510G>A (p.Glu170=) c.308G>A n.896G>A c.720G>A (p.Glu240=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291996G>C | CA356172360 | WFS1 | c.711G>C (p.Glu237Asp) c.688G>C c.462G>C (p.Glu154Asp) c.510G>C (p.Glu170Asp) c.308G>C n.896G>C c.720G>C (p.Glu240Asp) | |
4 | g.6291996G= | CA1435768991 | WFS1 | c.711G= (p.Glu237=) c.688G= c.462G= (p.Glu154=) c.510G= (p.Glu170=) c.308G= n.896G= c.720G= (p.Glu240=) | |
4 | g.6291996G>T | CA356172359 | WFS1 | c.711G>T (p.Glu237Asp) c.688G>T c.462G>T (p.Glu154Asp) c.510G>T (p.Glu170Asp) c.308G>T n.896G>T c.720G>T (p.Glu240Asp) | dbSNP gnomAD v2 |
4 | g.6291999_6292000del | CA645372120 | WFS1 | c.712+2_712+3del c.689+2_689+3del c.463+2_463+3del c.511+2_511+3del c.309+2_309+3del n.897+2_897+3del c.721+2_721+3del | |
4 | g.6291997T>A | CA356172361 | WFS1 | c.712T>A (p.Leu238Met) c.689T>A c.712T>A (p.Ser238Thr) c.463T>A (p.Ser155Thr) c.511T>A (p.Ser171Thr) c.309T>A n.897T>A c.721T>A (p.Ser241Thr) | |
4 | g.6291997T>C | CA356172362 | WFS1 | c.712T>C (p.Leu238=) c.689T>C c.712T>C (p.Ser238Pro) c.463T>C (p.Ser155Pro) c.511T>C (p.Ser171Pro) c.309T>C n.897T>C c.721T>C (p.Ser241Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291997T>G | CA356172363 | WFS1 | c.712T>G (p.Leu238Val) c.689T>G c.712T>G (p.Ser238Ala) c.463T>G (p.Ser155Ala) c.511T>G (p.Ser171Ala) c.309T>G n.897T>G c.721T>G (p.Ser241Ala) | |
4 | g.6291997T= | CA1435768992 | WFS1 | c.712T= (p.Leu238=) c.689T= c.712T= (p.Ser238=) c.463T= (p.Ser155=) c.511T= (p.Ser171=) c.309T= n.897T= c.721T= (p.Ser241=) | |
4 | g.6291998G>A | CA356172364 | WFS1 | c.712+1G>A (n.712+1G>A) c.689+1G>A c.463+1G>A (n.463+1G>A) c.511+1G>A (n.511+1G>A) c.309+1G>A n.897+1G>A c.721+1G>A (n.721+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6291998G>C | CA356172365 | WFS1 | c.712+1G>C (n.712+1G>C) c.689+1G>C c.463+1G>C (n.463+1G>C) c.511+1G>C (n.511+1G>C) c.309+1G>C n.897+1G>C c.721+1G>C (n.721+1G>C) | |
4 | g.6291998G= | CA1435768993 | WFS1 | c.712+1G= (n.712+1G=) c.689+1G= c.463+1G= (n.463+1G=) c.511+1G= (n.511+1G=) c.309+1G= n.897+1G= c.721+1G= (n.721+1G=) | |
4 | g.6291998G>T | CA356172366 | WFS1 | c.712+1G>T (n.712+1G>T) c.689+1G>T c.463+1G>T (n.463+1G>T) c.511+1G>T (n.511+1G>T) c.309+1G>T n.897+1G>T c.721+1G>T (n.721+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6291999T>A | CA2839002 | WFS1 | c.712+2T>A (n.712+2T>A) c.689+2T>A c.463+2T>A (n.463+2T>A) c.511+2T>A (n.511+2T>A) c.309+2T>A n.897+2T>A c.721+2T>A (n.721+2T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6291999T>C | CA356172368 | WFS1 | c.712+2T>C (n.712+2T>C) c.689+2T>C c.463+2T>C (n.463+2T>C) c.511+2T>C (n.511+2T>C) c.309+2T>C n.897+2T>C c.721+2T>C (n.721+2T>C) | |
4 | g.6291999T>G | CA356172367 | WFS1 | c.712+2T>G (n.712+2T>G) c.689+2T>G c.463+2T>G (n.463+2T>G) c.511+2T>G (n.511+2T>G) c.309+2T>G n.897+2T>G c.721+2T>G (n.721+2T>G) | |
4 | g.6291999T= | CA1435768994 | WFS1 | c.712+2T= (n.712+2T=) c.689+2T= c.463+2T= (n.463+2T=) c.511+2T= (n.511+2T=) c.309+2T= n.897+2T= c.721+2T= (n.721+2T=) | |
4 | g.6292000G>A | CA2669826238 | WFS1 | c.712+3G>A (n.712+3G>A) c.689+3G>A c.463+3G>A (n.463+3G>A) c.511+3G>A (n.511+3G>A) c.309+3G>A n.897+3G>A c.721+3G>A (n.721+3G>A) | gnomAD v4 |
4 | g.6292000G>C | CA549423265 | WFS1 | c.712+3G>C (n.712+3G>C) c.689+3G>C c.463+3G>C (n.463+3G>C) c.511+3G>C (n.511+3G>C) c.309+3G>C n.897+3G>C c.721+3G>C (n.721+3G>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6292000G= | CA1435768995 | WFS1 | c.712+3G= (n.712+3G=) c.689+3G= c.463+3G= (n.463+3G=) c.511+3G= (n.511+3G=) c.309+3G= n.897+3G= c.721+3G= (n.721+3G=) | |
4 | g.6292000G>T | CA2669826239 | WFS1 | c.712+3G>T (n.712+3G>T) c.689+3G>T c.463+3G>T (n.463+3G>T) c.511+3G>T (n.511+3G>T) c.309+3G>T n.897+3G>T c.721+3G>T (n.721+3G>T) | gnomAD v4 |
4 | g.6292001_6292002dup | CA549423267 | WFS1 | c.712+4_712+5dup (n.712+4_712+5dup) c.689+4_689+5dup c.463+4_463+5dup (n.463+4_463+5dup) c.511+4_511+5dup (n.511+4_511+5dup) c.309+4_309+5dup n.897+4_897+5dup c.721+4_721+5dup (n.721+4_721+5dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292001A= | CA1435768996 | WFS1 | c.712+4A= (n.712+4A=) c.689+4A= c.463+4A= (n.463+4A=) c.511+4A= (n.511+4A=) c.309+4A= n.897+4A= c.721+4A= (n.721+4A=) | |
4 | g.6292001A>C | CA2839003 | WFS1 | c.712+4A>C (n.712+4A>C) c.689+4A>C c.463+4A>C (n.463+4A>C) c.511+4A>C (n.511+4A>C) c.309+4A>C n.897+4A>C c.721+4A>C (n.721+4A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292001A>T | CA2669826240 | WFS1 | c.712+4A>T (n.712+4A>T) c.689+4A>T c.463+4A>T (n.463+4A>T) c.511+4A>T (n.511+4A>T) c.309+4A>T n.897+4A>T c.721+4A>T (n.721+4A>T) | gnomAD v4 |
4 | g.6292003T>C | CA2839004 | WFS1 | c.712+6T>C (n.712+6T>C) c.689+6T>C c.463+6T>C (n.463+6T>C) c.511+6T>C (n.511+6T>C) c.309+6T>C n.897+6T>C c.721+6T>C (n.721+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6292003T>G | CA2669826241 | WFS1 | c.712+6T>G (n.712+6T>G) c.689+6T>G c.463+6T>G (n.463+6T>G) c.511+6T>G (n.511+6T>G) c.309+6T>G n.897+6T>G c.721+6T>G (n.721+6T>G) | gnomAD v4 |
4 | g.6292003T= | CA1435768997 | WFS1 | c.712+6T= (n.712+6T=) c.689+6T= c.463+6T= (n.463+6T=) c.511+6T= (n.511+6T=) c.309+6T= n.897+6T= c.721+6T= (n.721+6T=) | |
4 | g.6292004G>A | CA2669826242 | WFS1 | c.712+7G>A (n.712+7G>A) c.689+7G>A c.463+7G>A (n.463+7G>A) c.511+7G>A (n.511+7G>A) c.309+7G>A n.897+7G>A c.721+7G>A (n.721+7G>A) | dbSNP gnomAD v4 |
4 | g.6292005C>A | CA2669826243 | WFS1 | c.712+8C>A (n.712+8C>A) c.689+8C>A c.463+8C>A (n.463+8C>A) c.511+8C>A (n.511+8C>A) c.309+8C>A n.897+8C>A c.721+8C>A (n.721+8C>A) | gnomAD v4 |
4 | g.6292005C= | CA1435768998 | WFS1 | c.712+8C= (n.712+8C=) c.689+8C= c.463+8C= (n.463+8C=) c.511+8C= (n.511+8C=) c.309+8C= n.897+8C= c.721+8C= (n.721+8C=) | |
4 | g.6292005C>T | CA2839005 | WFS1 | c.712+8C>T (n.712+8C>T) c.689+8C>T c.463+8C>T (n.463+8C>T) c.511+8C>T (n.511+8C>T) c.309+8C>T n.897+8C>T c.721+8C>T (n.721+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292006A>G | CA2669826245 | WFS1 | c.712+9A>G (n.712+9A>G) c.689+9A>G c.463+9A>G (n.463+9A>G) c.511+9A>G (n.511+9A>G) c.309+9A>G n.897+9A>G c.721+9A>G (n.721+9A>G) | gnomAD v4 |
4 | g.6292006A>T | CA2669826244 | WFS1 | c.712+9A>T (n.712+9A>T) c.689+9A>T c.463+9A>T (n.463+9A>T) c.511+9A>T (n.511+9A>T) c.309+9A>T n.897+9A>T c.721+9A>T (n.721+9A>T) | gnomAD v4 |
4 | g.6292008C>T | CA2578035780 | WFS1 | c.712+11C>T (n.712+11C>T) c.689+11C>T c.463+11C>T (n.463+11C>T) c.511+11C>T (n.511+11C>T) c.309+11C>T n.897+11C>T c.721+11C>T (n.721+11C>T) | |
4 | g.6292009C= | CA1435768999 | WFS1 | c.712+12C= (n.712+12C=) c.689+12C= c.463+12C= (n.463+12C=) c.511+12C= (n.511+12C=) c.309+12C= n.897+12C= c.721+12C= (n.721+12C=) | |
4 | g.6292009C>T | CA549423271 | WFS1 | c.712+12C>T (n.712+12C>T) c.689+12C>T c.463+12C>T (n.463+12C>T) c.511+12C>T (n.511+12C>T) c.309+12C>T n.897+12C>T c.721+12C>T (n.721+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292010C>A | CA797128498 | WFS1 | c.712+13C>A (n.712+13C>A) c.689+13C>A c.463+13C>A (n.463+13C>A) c.511+13C>A (n.511+13C>A) c.309+13C>A n.897+13C>A c.721+13C>A (n.721+13C>A) | dbSNP |
4 | g.6292010C= | CA1435769000 | WFS1 | c.712+13C= (n.712+13C=) c.689+13C= c.463+13C= (n.463+13C=) c.511+13C= (n.511+13C=) c.309+13C= n.897+13C= c.721+13C= (n.721+13C=) | |
4 | g.6292010C>T | CA549423272 | WFS1 | c.712+13C>T (n.712+13C>T) c.689+13C>T c.463+13C>T (n.463+13C>T) c.511+13C>T (n.511+13C>T) c.309+13C>T n.897+13C>T c.721+13C>T (n.721+13C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6292017_6292091del | CA2669826246 | WFS1 | c.712+20_712+94del (n.712+20_712+94del) c.689+20_689+94del c.463+20_463+94del (n.463+20_463+94del) c.511+20_511+94del (n.511+20_511+94del) c.309+20_309+94del n.897+20_897+94del c.721+20_721+94del (n.721+20_721+94del) | gnomAD v4 |
4 | g.6292011C>A | CA2669826247 | WFS1 | c.712+14C>A (n.712+14C>A) c.689+14C>A c.463+14C>A (n.463+14C>A) c.511+14C>A (n.511+14C>A) c.309+14C>A n.897+14C>A c.721+14C>A (n.721+14C>A) | gnomAD v4 |
4 | g.6292011C= | CA1435769001 | WFS1 | c.712+14C= (n.712+14C=) c.689+14C= c.463+14C= (n.463+14C=) c.511+14C= (n.511+14C=) c.309+14C= n.897+14C= c.721+14C= (n.721+14C=) | |
4 | g.6292011C>G | CA1435769002 | WFS1 | c.712+14C>G (n.712+14C>G) c.689+14C>G c.463+14C>G (n.463+14C>G) c.511+14C>G (n.511+14C>G) c.309+14C>G n.897+14C>G c.721+14C>G (n.721+14C>G) | dbSNP |
4 | g.6292011C>T | CA1435769003 | WFS1 | c.712+14C>T (n.712+14C>T) c.689+14C>T c.463+14C>T (n.463+14C>T) c.511+14C>T (n.511+14C>T) c.309+14C>T n.897+14C>T c.721+14C>T (n.721+14C>T) | dbSNP gnomAD v4 |
4 | g.6292016_6292031dup | CA1435769004 | WFS1 | c.712+19_712+34dup (n.712+19_712+34dup) c.689+19_689+34dup c.463+19_463+34dup (n.463+19_463+34dup) c.511+19_511+34dup (n.511+19_511+34dup) c.309+19_309+34dup n.897+19_897+34dup c.721+19_721+34dup (n.721+19_721+34dup) | dbSNP |
4 | g.6292013G>A | CA321380 | WFS1 | c.712+16G>A (n.712+16G>A) c.689+16G>A c.463+16G>A (n.463+16G>A) c.511+16G>A (n.511+16G>A) c.309+16G>A n.897+16G>A c.721+16G>A (n.721+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292013G>C | CA2581403688 | WFS1 | c.712+16G>C (n.712+16G>C) c.689+16G>C c.463+16G>C (n.463+16G>C) c.511+16G>C (n.511+16G>C) c.309+16G>C n.897+16G>C c.721+16G>C (n.721+16G>C) | |
4 | g.6292013G= | CA1435769005 | WFS1 | c.712+16G= (n.712+16G=) c.689+16G= c.463+16G= (n.463+16G=) c.511+16G= (n.511+16G=) c.309+16G= n.897+16G= c.721+16G= (n.721+16G=) | |
4 | g.6292013G>T | CA2581403689 | WFS1 | c.712+16G>T (n.712+16G>T) c.689+16G>T c.463+16G>T (n.463+16G>T) c.511+16G>T (n.511+16G>T) c.309+16G>T n.897+16G>T c.721+16G>T (n.721+16G>T) | gnomAD v4 |
4 | g.6292014C>A | CA2669826248 | WFS1 | c.712+17C>A (n.712+17C>A) c.689+17C>A c.463+17C>A (n.463+17C>A) c.511+17C>A (n.511+17C>A) c.309+17C>A n.897+17C>A c.721+17C>A (n.721+17C>A) | gnomAD v4 |
4 | g.6292014C>T | CA2669826249 | WFS1 | c.712+17C>T (n.712+17C>T) c.689+17C>T c.463+17C>T (n.463+17C>T) c.511+17C>T (n.511+17C>T) c.309+17C>T n.897+17C>T c.721+17C>T (n.721+17C>T) | gnomAD v4 |
4 | g.6292015C= | CA1435769006 | WFS1 | c.712+18C= (n.712+18C=) c.689+18C= c.463+18C= (n.463+18C=) c.511+18C= (n.511+18C=) c.309+18C= n.897+18C= c.721+18C= (n.721+18C=) | |
4 | g.6292015C>G | CA2839006 | WFS1 | c.712+18C>G (n.712+18C>G) c.689+18C>G c.463+18C>G (n.463+18C>G) c.511+18C>G (n.511+18C>G) c.309+18C>G n.897+18C>G c.721+18C>G (n.721+18C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292015C>T | CA1058889101 | WFS1 | c.712+18C>T (n.712+18C>T) c.689+18C>T c.463+18C>T (n.463+18C>T) c.511+18C>T (n.511+18C>T) c.309+18C>T n.897+18C>T c.721+18C>T (n.721+18C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6292016C= | CA1435769007 | WFS1 | c.712+19C= (n.712+19C=) c.689+19C= c.463+19C= (n.463+19C=) c.511+19C= (n.511+19C=) c.309+19C= n.897+19C= c.721+19C= (n.721+19C=) | |
4 | g.6292016C>T | CA2839007 | WFS1 | c.712+19C>T (n.712+19C>T) c.689+19C>T c.463+19C>T (n.463+19C>T) c.511+19C>T (n.511+19C>T) c.309+19C>T n.897+19C>T c.721+19C>T (n.721+19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292017C>A | CA2669826250 | WFS1 | c.712+20C>A (n.712+20C>A) c.689+20C>A c.463+20C>A (n.463+20C>A) c.511+20C>A (n.511+20C>A) c.309+20C>A n.897+20C>A c.721+20C>A (n.721+20C>A) | gnomAD v4 |
4 | g.6292017C= | CA1435769008 | WFS1 | c.712+20C= (n.712+20C=) c.689+20C= c.463+20C= (n.463+20C=) c.511+20C= (n.511+20C=) c.309+20C= n.897+20C= c.721+20C= (n.721+20C=) | |
4 | g.6292017C>G | CA91794671 | WFS1 | c.712+20C>G (n.712+20C>G) c.689+20C>G c.463+20C>G (n.463+20C>G) c.511+20C>G (n.511+20C>G) c.309+20C>G n.897+20C>G c.721+20C>G (n.721+20C>G) | ClinVar dbSNP gnomAD v4 |
4 | g.6292017C>T | CA2839008 | WFS1 | c.712+20C>T (n.712+20C>T) c.689+20C>T c.463+20C>T (n.463+20C>T) c.511+20C>T (n.511+20C>T) c.309+20C>T n.897+20C>T c.721+20C>T (n.721+20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6292018G>A | CA2839009 | WFS1 | c.712+21G>A (n.712+21G>A) c.689+21G>A c.463+21G>A (n.463+21G>A) c.511+21G>A (n.511+21G>A) c.309+21G>A n.897+21G>A c.721+21G>A (n.721+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6292018G= | CA1435769009 | WFS1 | c.712+21G= (n.712+21G=) c.689+21G= c.463+21G= (n.463+21G=) c.511+21G= (n.511+21G=) c.309+21G= n.897+21G= c.721+21G= (n.721+21G=) | |
4 | g.6292018G>T | CA1435769010 | WFS1 | c.712+21G>T (n.712+21G>T) c.689+21G>T c.463+21G>T (n.463+21G>T) c.511+21G>T (n.511+21G>T) c.309+21G>T n.897+21G>T c.721+21G>T (n.721+21G>T) | dbSNP |
4 | g.6292027_6292101del | CA1058889116 | WFS1 | c.712+30_712+104del (n.712+30_712+104del) c.689+30_689+104del c.463+30_463+104del (n.463+30_463+104del) c.511+30_511+104del (n.511+30_511+104del) c.309+30_309+104del n.897+30_897+104del c.721+30_721+104del (n.721+30_721+104del) | gnomAD v3 gnomAD v4 |
4 | g.6292020C>A | CA2669826251 | WFS1 | c.712+23C>A (n.712+23C>A) c.689+23C>A c.463+23C>A (n.463+23C>A) c.511+23C>A (n.511+23C>A) c.309+23C>A n.897+23C>A c.721+23C>A (n.721+23C>A) | gnomAD v4 |