UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.9585499G>A | CA379848288 | WEE1 | c.1442G>A (p.Arg481His) c.260G>A (p.Arg87His) c.*392G>A (n.*392G>A) c.800G>A (p.Arg267His) c.326G>A (p.Arg109His) c.289G>A n.229G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.9585499G>C | CA379848289 | WEE1 | c.1442G>C (p.Arg481Pro) c.260G>C (p.Arg87Pro) c.*392G>C (n.*392G>C) c.800G>C (p.Arg267Pro) c.326G>C (p.Arg109Pro) c.289G>C n.229G>C | |
| 11 | g.9585499G= | CA1951653222 | WEE1 | c.1442G= (p.Arg481=) c.260G= (p.Arg87=) c.*392G= (n.*392G=) c.800G= (p.Arg267=) c.326G= (p.Arg109=) c.289G= n.229G= | |
| 11 | g.9585499G>T | CA379848290 | WEE1 | c.1442G>T (p.Arg481Leu) c.260G>T (p.Arg87Leu) c.*392G>T (n.*392G>T) c.800G>T (p.Arg267Leu) c.326G>T (p.Arg109Leu) c.289G>T n.229G>T | gnomAD v4 |
| 11 | g.9585500T>A | CA473182188 | WEE1 | c.1443T>A (p.Arg481=) c.261T>A (p.Arg87=) c.*393T>A (n.*393T>A) c.801T>A (p.Arg267=) c.327T>A (p.Arg109=) c.290T>A n.230T>A | |
| 11 | g.9585500T>C | CA473182189 | WEE1 | c.1443T>C (p.Arg481=) c.261T>C (p.Arg87=) c.*393T>C (n.*393T>C) c.801T>C (p.Arg267=) c.327T>C (p.Arg109=) c.290T>C n.230T>C | |
| 11 | g.9585500T>G | CA473182190 | WEE1 | c.1443T>G (p.Arg481=) c.261T>G (p.Arg87=) c.*393T>G (n.*393T>G) c.801T>G (p.Arg267=) c.327T>G (p.Arg109=) c.290T>G n.230T>G | |
| 11 | g.9585501T>A | CA379848293 | WEE1 | c.1444T>A (p.Phe482Ile) c.262T>A (p.Phe88Ile) c.*394T>A (n.*394T>A) c.802T>A (p.Phe268Ile) c.328T>A (p.Phe110Ile) c.291T>A n.231T>A | |
| 11 | g.9585501T>C | CA379848292 | WEE1 | c.1444T>C (p.Phe482Leu) c.262T>C (p.Phe88Leu) c.*394T>C (n.*394T>C) c.802T>C (p.Phe268Leu) c.328T>C (p.Phe110Leu) c.291T>C n.231T>C | |
| 11 | g.9585501T>G | CA379848291 | WEE1 | c.1444T>G (p.Phe482Val) c.262T>G (p.Phe88Val) c.*394T>G (n.*394T>G) c.802T>G (p.Phe268Val) c.328T>G (p.Phe110Val) c.291T>G n.231T>G | |
| 11 | g.9585502T>A | CA379848294 | WEE1 | c.1445T>A (p.Phe482Tyr) c.263T>A (p.Phe88Tyr) c.*395T>A (n.*395T>A) c.803T>A (p.Phe268Tyr) c.329T>A (p.Phe110Tyr) c.292T>A n.232T>A | |
| 11 | g.9585502T>C | CA379848296 | WEE1 | c.1445T>C (p.Phe482Ser) c.263T>C (p.Phe88Ser) c.*395T>C (n.*395T>C) c.803T>C (p.Phe268Ser) c.329T>C (p.Phe110Ser) c.292T>C n.232T>C | gnomAD v4 |
| 11 | g.9585502T>G | CA379848295 | WEE1 | c.1445T>G (p.Phe482Cys) c.263T>G (p.Phe88Cys) c.*395T>G (n.*395T>G) c.803T>G (p.Phe268Cys) c.329T>G (p.Phe110Cys) c.292T>G n.232T>G | |
| 11 | g.9585503T>A | CA379848297 | WEE1 | c.1446T>A (p.Phe482Leu) c.264T>A (p.Phe88Leu) c.*396T>A (n.*396T>A) c.804T>A (p.Phe268Leu) c.330T>A (p.Phe110Leu) c.293T>A n.233T>A | |
| 11 | g.9585503T>C | CA473182191 | WEE1 | c.1446T>C (p.Phe482=) c.264T>C (p.Phe88=) c.*396T>C (n.*396T>C) c.804T>C (p.Phe268=) c.330T>C (p.Phe110=) c.293T>C n.233T>C | |
| 11 | g.9585503T>G | CA379848298 | WEE1 | c.1446T>G (p.Phe482Leu) c.264T>G (p.Phe88Leu) c.*396T>G (n.*396T>G) c.804T>G (p.Phe268Leu) c.330T>G (p.Phe110Leu) c.293T>G n.233T>G | gnomAD v4 COSMIC |
| 11 | g.9585504C>A | CA379848299 | WEE1 | c.1447C>A (p.Leu483Ile) c.265C>A (p.Leu89Ile) c.*397C>A (n.*397C>A) c.805C>A (p.Leu269Ile) c.331C>A (p.Leu111Ile) c.294C>A n.234C>A | |
| 11 | g.9585504C= | CA1951653225 | WEE1 | c.1447C= (p.Leu483=) c.265C= (p.Leu89=) c.*397C= (n.*397C=) c.805C= (p.Leu269=) c.331C= (p.Leu111=) c.294C= n.234C= | |
| 11 | g.9585504C>G | CA379848300 | WEE1 | c.1447C>G (p.Leu483Val) c.265C>G (p.Leu89Val) c.*397C>G (n.*397C>G) c.805C>G (p.Leu269Val) c.331C>G (p.Leu111Val) c.294C>G n.234C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.9585504C>T | CA5880015 | WEE1 | c.1447C>T (p.Leu483Phe) c.265C>T (p.Leu89Phe) c.*397C>T (n.*397C>T) c.805C>T (p.Leu269Phe) c.331C>T (p.Leu111Phe) c.294C>T n.234C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.9585505T>A | CA379848301 | WEE1 | c.1448T>A (p.Leu483His) c.266T>A (p.Leu89His) c.*398T>A (n.*398T>A) c.806T>A (p.Leu269His) c.332T>A (p.Leu111His) c.295T>A n.235T>A | |
| 11 | g.9585505T>C | CA379848302 | WEE1 | c.1448T>C (p.Leu483Pro) c.266T>C (p.Leu89Pro) c.*398T>C (n.*398T>C) c.806T>C (p.Leu269Pro) c.332T>C (p.Leu111Pro) c.295T>C n.235T>C | |
| 11 | g.9585505T>G | CA379848303 | WEE1 | c.1448T>G (p.Leu483Arg) c.266T>G (p.Leu89Arg) c.*398T>G (n.*398T>G) c.806T>G (p.Leu269Arg) c.332T>G (p.Leu111Arg) c.295T>G n.235T>G | |
| 11 | g.9585506T>A | CA473182193 | WEE1 | c.1449T>A (p.Leu483=) c.267T>A (p.Leu89=) c.*399T>A (n.*399T>A) c.807T>A (p.Leu269=) c.333T>A (p.Leu111=) c.296T>A n.236T>A | |
| 11 | g.9585506T>C | CA473182194 | WEE1 | c.1449T>C (p.Leu483=) c.267T>C (p.Leu89=) c.*399T>C (n.*399T>C) c.807T>C (p.Leu269=) c.333T>C (p.Leu111=) c.296T>C n.236T>C | gnomAD v4 |
| 11 | g.9585506T>G | CA473182195 | WEE1 | c.1449T>G (p.Leu483=) c.267T>G (p.Leu89=) c.*399T>G (n.*399T>G) c.807T>G (p.Leu269=) c.333T>G (p.Leu111=) c.296T>G n.236T>G | gnomAD v4 |
| 11 | g.9585507G>A | CA379848304 | WEE1 | c.1450G>A (p.Ala484Thr) c.268G>A (p.Ala90Thr) c.*400G>A (n.*400G>A) c.808G>A (p.Ala270Thr) c.334G>A (p.Ala112Thr) c.297G>A n.237G>A | |
| 11 | g.9585507G>C | CA379848305 | WEE1 | c.1450G>C (p.Ala484Pro) c.268G>C (p.Ala90Pro) c.*400G>C (n.*400G>C) c.808G>C (p.Ala270Pro) c.334G>C (p.Ala112Pro) c.297G>C n.237G>C | |
| 11 | g.9585507G>T | CA379848306 | WEE1 | c.1450G>T (p.Ala484Ser) c.268G>T (p.Ala90Ser) c.*400G>T (n.*400G>T) c.808G>T (p.Ala270Ser) c.334G>T (p.Ala112Ser) c.297G>T n.237G>T | |
| 11 | g.9585508C>A | CA379848307 | WEE1 | c.1451C>A (p.Ala484Glu) c.269C>A (p.Ala90Glu) c.*401C>A (n.*401C>A) c.809C>A (p.Ala270Glu) c.335C>A (p.Ala112Glu) c.298C>A n.238C>A | gnomAD v4 |
| 11 | g.9585508C>G | CA379848308 | WEE1 | c.1451C>G (p.Ala484Gly) c.269C>G (p.Ala90Gly) c.*401C>G (n.*401C>G) c.809C>G (p.Ala270Gly) c.335C>G (p.Ala112Gly) c.298C>G n.238C>G | |
| 11 | g.9585508C>T | CA379848309 | WEE1 | c.1451C>T (p.Ala484Val) c.269C>T (p.Ala90Val) c.*401C>T (n.*401C>T) c.809C>T (p.Ala270Val) c.335C>T (p.Ala112Val) c.298C>T n.238C>T | |
| 11 | g.9585509A>C | CA473182197 | WEE1 | c.1452A>C (p.Ala484=) c.270A>C (p.Ala90=) c.*402A>C (n.*402A>C) c.810A>C (p.Ala270=) c.336A>C (p.Ala112=) c.299A>C n.239A>C | |
| 11 | g.9585509A>G | CA473182199 | WEE1 | c.1452A>G (p.Ala484=) c.270A>G (p.Ala90=) c.*402A>G (n.*402A>G) c.810A>G (p.Ala270=) c.336A>G (p.Ala112=) c.299A>G n.239A>G | |
| 11 | g.9585509A>T | CA473182201 | WEE1 | c.1452A>T (p.Ala484=) c.270A>T (p.Ala90=) c.*402A>T (n.*402A>T) c.810A>T (p.Ala270=) c.336A>T (p.Ala112=) c.299A>T n.239A>T | |
| 11 | g.9585511del | CA2612427255 | WEE1 | c.1454del (p.Asn485MetfsTer?) c.272del (p.Asn91MetfsTer?) c.*404del (n.*404del) c.812del (p.Asn271MetfsTer?) c.338del (p.Asn113MetfsTer?) c.301del n.241del | gnomAD v4 |
| 11 | g.9585510A>C | CA379848312 | WEE1 | c.1453A>C (p.Asn485His) c.271A>C (p.Asn91His) c.*403A>C (n.*403A>C) c.811A>C (p.Asn271His) c.337A>C (p.Asn113His) c.300A>C n.240A>C | |
| 11 | g.9585510A>G | CA379848311 | WEE1 | c.1453A>G (p.Asn485Asp) c.271A>G (p.Asn91Asp) c.*403A>G (n.*403A>G) c.811A>G (p.Asn271Asp) c.337A>G (p.Asn113Asp) c.300A>G n.240A>G | |
| 11 | g.9585510A>T | CA379848310 | WEE1 | c.1453A>T (p.Asn485Tyr) c.271A>T (p.Asn91Tyr) c.*403A>T (n.*403A>T) c.811A>T (p.Asn271Tyr) c.337A>T (p.Asn113Tyr) c.300A>T n.240A>T | |
| 11 | g.9585511A= | CA1951653228 | WEE1 | c.1454A= (p.Asn485=) c.272A= (p.Asn91=) c.*404A= (n.*404A=) c.812A= (p.Asn271=) c.338A= (p.Asn113=) c.301A= n.241A= | |
| 11 | g.9585511A>C | CA379848313 | WEE1 | c.1454A>C (p.Asn485Thr) c.272A>C (p.Asn91Thr) c.*404A>C (n.*404A>C) c.812A>C (p.Asn271Thr) c.338A>C (p.Asn113Thr) c.301A>C n.241A>C | |
| 11 | g.9585511A>G | CA5880016 | WEE1 | c.1454A>G (p.Asn485Ser) c.272A>G (p.Asn91Ser) c.*404A>G (n.*404A>G) c.812A>G (p.Asn271Ser) c.338A>G (p.Asn113Ser) c.301A>G n.241A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.9585511A>T | CA379848314 | WEE1 | c.1454A>T (p.Asn485Ile) c.272A>T (p.Asn91Ile) c.*404A>T (n.*404A>T) c.812A>T (p.Asn271Ile) c.338A>T (p.Asn113Ile) c.301A>T n.241A>T | |
| 11 | g.9585512T>A | CA379848315 | WEE1 | c.1455T>A (p.Asn485Lys) c.273T>A (p.Asn91Lys) c.*405T>A (n.*405T>A) c.813T>A (p.Asn271Lys) c.339T>A (p.Asn113Lys) c.302T>A n.242T>A | |
| 11 | g.9585512T>C | CA473182202 | WEE1 | c.1455T>C (p.Asn485=) c.273T>C (p.Asn91=) c.*405T>C (n.*405T>C) c.813T>C (p.Asn271=) c.339T>C (p.Asn113=) c.302T>C n.242T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.9585512T>G | CA379848316 | WEE1 | c.1455T>G (p.Asn485Lys) c.273T>G (p.Asn91Lys) c.*405T>G (n.*405T>G) c.813T>G (p.Asn271Lys) c.339T>G (p.Asn113Lys) c.302T>G n.242T>G | |
| 11 | g.9585512T= | CA1951653233 | WEE1 | c.1455T= (p.Asn485=) c.273T= (p.Asn91=) c.*405T= (n.*405T=) c.813T= (p.Asn271=) c.339T= (p.Asn113=) c.302T= n.242T= | |
| 11 | g.9585513G>A | CA379848317 | WEE1 | c.1456G>A (p.Glu486Lys) c.274G>A (p.Glu92Lys) c.*406G>A (n.*406G>A) c.814G>A (p.Glu272Lys) c.340G>A (p.Glu114Lys) c.303G>A n.243G>A | |
| 11 | g.9585513G>C | CA379848318 | WEE1 | c.1456G>C (p.Glu486Gln) c.274G>C (p.Glu92Gln) c.*406G>C (n.*406G>C) c.814G>C (p.Glu272Gln) c.340G>C (p.Glu114Gln) c.303G>C n.243G>C | |
| 11 | g.9585513G>T | CA379848319 | WEE1 | c.1456G>T (p.Glu486Ter) c.274G>T (p.Glu92Ter) c.*406G>T (n.*406G>T) c.814G>T (p.Glu272Ter) c.340G>T (p.Glu114Ter) c.303G>T n.243G>T |