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 |
|---|---|---|---|---|---|
| 14 | g.67782852C>A | CA390170211 | ZFYVE26 | c.4300G>T (p.Glu1434Ter) n.4437G>T c.*2350+247G>T (n.*2350+247G>T) c.2791G>T (p.Glu931Ter) c.1975G>T (p.Glu659Ter) c.1882G>T (p.Glu628Ter) | |
| 14 | g.67782852C>G | CA390170213 | ZFYVE26 | c.4300G>C (p.Glu1434Gln) n.4437G>C c.*2350+247G>C (n.*2350+247G>C) c.2791G>C (p.Glu931Gln) c.1975G>C (p.Glu659Gln) c.1882G>C (p.Glu628Gln) | |
| 14 | g.67782852C>T | CA390170215 | ZFYVE26 | c.4300G>A (p.Glu1434Lys) n.4437G>A c.*2350+247G>A (n.*2350+247G>A) c.2791G>A (p.Glu931Lys) c.1975G>A (p.Glu659Lys) c.1882G>A (p.Glu628Lys) | |
| 14 | g.67782853A>C | CA486970555 | ZFYVE26 | c.4299T>G (p.Thr1433=) n.4436T>G c.*2350+246T>G (n.*2350+246T>G) c.2790T>G (p.Thr930=) c.1974T>G (p.Thr658=) c.1881T>G (p.Thr627=) | |
| 14 | g.67782853A>G | CA486970557 | ZFYVE26 | c.4299T>C (p.Thr1433=) n.4436T>C c.*2350+246T>C (n.*2350+246T>C) c.2790T>C (p.Thr930=) c.1974T>C (p.Thr658=) c.1881T>C (p.Thr627=) | |
| 14 | g.67782853A>T | CA486970559 | ZFYVE26 | c.4299T>A (p.Thr1433=) n.4436T>A c.*2350+246T>A (n.*2350+246T>A) c.2790T>A (p.Thr930=) c.1974T>A (p.Thr658=) c.1881T>A (p.Thr627=) | |
| 14 | g.67782854G>A | CA390170216 | ZFYVE26 | c.4298C>T (p.Thr1433Ile) n.4435C>T c.*2350+245C>T (n.*2350+245C>T) c.2789C>T (p.Thr930Ile) c.1973C>T (p.Thr658Ile) c.1880C>T (p.Thr627Ile) | |
| 14 | g.67782854G>C | CA390170218 | ZFYVE26 | c.4298C>G (p.Thr1433Ser) n.4435C>G c.*2350+245C>G (n.*2350+245C>G) c.2789C>G (p.Thr930Ser) c.1973C>G (p.Thr658Ser) c.1880C>G (p.Thr627Ser) | |
| 14 | g.67782854G>T | CA390170220 | ZFYVE26 | c.4298C>A (p.Thr1433Asn) n.4435C>A c.*2350+245C>A (n.*2350+245C>A) c.2789C>A (p.Thr930Asn) c.1973C>A (p.Thr658Asn) c.1880C>A (p.Thr627Asn) | |
| 14 | g.67782855T>A | CA390170224 | ZFYVE26 | c.4297A>T (p.Thr1433Ser) n.4434A>T c.*2350+244A>T (n.*2350+244A>T) c.2788A>T (p.Thr930Ser) c.1972A>T (p.Thr658Ser) c.1879A>T (p.Thr627Ser) | |
| 14 | g.67782855T>C | CA7239803 | ZFYVE26 | c.4297A>G (p.Thr1433Ala) n.4434A>G c.*2350+244A>G (n.*2350+244A>G) c.2788A>G (p.Thr930Ala) c.1972A>G (p.Thr658Ala) c.1879A>G (p.Thr627Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.67782855T>G | CA390170222 | ZFYVE26 | c.4297A>C (p.Thr1433Pro) n.4434A>C c.*2350+244A>C (n.*2350+244A>C) c.2788A>C (p.Thr930Pro) c.1972A>C (p.Thr658Pro) c.1879A>C (p.Thr627Pro) | |
| 14 | g.67782855T= | CA2144027654 | ZFYVE26 | c.4297A= (p.Thr1433=) n.4434A= c.*2350+244A= (n.*2350+244A=) c.2788A= (p.Thr930=) c.1972A= (p.Thr658=) c.1879A= (p.Thr627=) | |
| 14 | g.67782856G>A | CA486970563 | ZFYVE26 | c.4296C>T (p.Leu1432=) n.4433C>T c.*2350+243C>T (n.*2350+243C>T) c.2787C>T (p.Leu929=) c.1971C>T (p.Leu657=) c.1878C>T (p.Leu626=) | gnomAD v4 |
| 14 | g.67782856G>C | CA486970564 | ZFYVE26 | c.4296C>G (p.Leu1432=) n.4433C>G c.*2350+243C>G (n.*2350+243C>G) c.2787C>G (p.Leu929=) c.1971C>G (p.Leu657=) c.1878C>G (p.Leu626=) | |
| 14 | g.67782856G>T | CA486970565 | ZFYVE26 | c.4296C>A (p.Leu1432=) n.4433C>A c.*2350+243C>A (n.*2350+243C>A) c.2787C>A (p.Leu929=) c.1971C>A (p.Leu657=) c.1878C>A (p.Leu626=) | |
| 14 | g.67782857A>C | CA390170226 | ZFYVE26 | c.4295T>G (p.Leu1432Arg) n.4432T>G c.*2350+242T>G (n.*2350+242T>G) c.2786T>G (p.Leu929Arg) c.1970T>G (p.Leu657Arg) c.1877T>G (p.Leu626Arg) | |
| 14 | g.67782857A>G | CA390170228 | ZFYVE26 | c.4295T>C (p.Leu1432Pro) n.4432T>C c.*2350+242T>C (n.*2350+242T>C) c.2786T>C (p.Leu929Pro) c.1970T>C (p.Leu657Pro) c.1877T>C (p.Leu626Pro) | |
| 14 | g.67782857A>T | CA390170229 | ZFYVE26 | c.4295T>A (p.Leu1432His) n.4432T>A c.*2350+242T>A (n.*2350+242T>A) c.2786T>A (p.Leu929His) c.1970T>A (p.Leu657His) c.1877T>A (p.Leu626His) | |
| 14 | g.67782858G>A | CA390170231 | ZFYVE26 | c.4294C>T (p.Leu1432Phe) n.4431C>T c.*2350+241C>T (n.*2350+241C>T) c.2785C>T (p.Leu929Phe) c.1969C>T (p.Leu657Phe) c.1876C>T (p.Leu626Phe) | dbSNP gnomAD v4 |
| 14 | g.67782858G>C | CA390170233 | ZFYVE26 | c.4294C>G (p.Leu1432Val) n.4431C>G c.*2350+241C>G (n.*2350+241C>G) c.2785C>G (p.Leu929Val) c.1969C>G (p.Leu657Val) c.1876C>G (p.Leu626Val) | |
| 14 | g.67782858G= | CA2144027655 | ZFYVE26 | c.4294C= (p.Leu1432=) n.4431C= c.*2350+241C= (n.*2350+241C=) c.2785C= (p.Leu929=) c.1969C= (p.Leu657=) c.1876C= (p.Leu626=) | |
| 14 | g.67782858G>T | CA390170235 | ZFYVE26 | c.4294C>A (p.Leu1432Ile) n.4431C>A c.*2350+241C>A (n.*2350+241C>A) c.2785C>A (p.Leu929Ile) c.1969C>A (p.Leu657Ile) c.1876C>A (p.Leu626Ile) | |
| 14 | g.67782859C>A | CA390170237 | ZFYVE26 | c.4293G>T (p.Gln1431His) n.4430G>T c.*2350+240G>T (n.*2350+240G>T) c.2784G>T (p.Gln928His) c.1968G>T (p.Gln656His) c.1875G>T (p.Gln625His) | gnomAD v4 |
| 14 | g.67782859C= | CA2144027656 | ZFYVE26 | c.4293G= (p.Gln1431=) n.4430G= c.*2350+240G= (n.*2350+240G=) c.2784G= (p.Gln928=) c.1968G= (p.Gln656=) c.1875G= (p.Gln625=) | |
| 14 | g.67782859C>G | CA7239804 | ZFYVE26 | c.4293G>C (p.Gln1431His) n.4430G>C c.*2350+240G>C (n.*2350+240G>C) c.2784G>C (p.Gln928His) c.1968G>C (p.Gln656His) c.1875G>C (p.Gln625His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.67782859C>T | CA486970570 | ZFYVE26 | c.4293G>A (p.Gln1431=) n.4430G>A c.*2350+240G>A (n.*2350+240G>A) c.2784G>A (p.Gln928=) c.1968G>A (p.Gln656=) c.1875G>A (p.Gln625=) | COSMIC |
| 14 | g.67782860T>A | CA390170240 | ZFYVE26 | c.4292A>T (p.Gln1431Leu) n.4429A>T c.*2350+239A>T (n.*2350+239A>T) c.2783A>T (p.Gln928Leu) c.1967A>T (p.Gln656Leu) c.1874A>T (p.Gln625Leu) | |
| 14 | g.67782860T>C | CA390170241 | ZFYVE26 | c.4292A>G (p.Gln1431Arg) n.4429A>G c.*2350+239A>G (n.*2350+239A>G) c.2783A>G (p.Gln928Arg) c.1967A>G (p.Gln656Arg) c.1874A>G (p.Gln625Arg) | |
| 14 | g.67782860T>G | CA390170243 | ZFYVE26 | c.4292A>C (p.Gln1431Pro) n.4429A>C c.*2350+239A>C (n.*2350+239A>C) c.2783A>C (p.Gln928Pro) c.1967A>C (p.Gln656Pro) c.1874A>C (p.Gln625Pro) | |
| 14 | g.67782861G>A | CA390170249 | ZFYVE26 | c.4291C>T (p.Gln1431Ter) n.4428C>T c.*2350+238C>T (n.*2350+238C>T) c.2782C>T (p.Gln928Ter) c.1966C>T (p.Gln656Ter) c.1873C>T (p.Gln625Ter) | ClinVar dbSNP |
| 14 | g.67782861G>C | CA390170247 | ZFYVE26 | c.4291C>G (p.Gln1431Glu) n.4428C>G c.*2350+238C>G (n.*2350+238C>G) c.2782C>G (p.Gln928Glu) c.1966C>G (p.Gln656Glu) c.1873C>G (p.Gln625Glu) | |
| 14 | g.67782861G>T | CA390170245 | ZFYVE26 | c.4291C>A (p.Gln1431Lys) n.4428C>A c.*2350+238C>A (n.*2350+238C>A) c.2782C>A (p.Gln928Lys) c.1966C>A (p.Gln656Lys) c.1873C>A (p.Gln625Lys) | |
| 14 | g.67782862A>C | CA486970576 | ZFYVE26 | c.4290T>G (p.Leu1430=) n.4427T>G c.*2350+237T>G (n.*2350+237T>G) c.2781T>G (p.Leu927=) c.1965T>G (p.Leu655=) c.1872T>G (p.Leu624=) | |
| 14 | g.67782862A>G | CA486970577 | ZFYVE26 | c.4290T>C (p.Leu1430=) n.4427T>C c.*2350+237T>C (n.*2350+237T>C) c.2781T>C (p.Leu927=) c.1965T>C (p.Leu655=) c.1872T>C (p.Leu624=) | |
| 14 | g.67782862A>T | CA486970575 | ZFYVE26 | c.4290T>A (p.Leu1430=) n.4427T>A c.*2350+237T>A (n.*2350+237T>A) c.2781T>A (p.Leu927=) c.1965T>A (p.Leu655=) c.1872T>A (p.Leu624=) | |
| 14 | g.67782863A>C | CA390170251 | ZFYVE26 | c.4289T>G (p.Leu1430Arg) n.4426T>G c.*2350+236T>G (n.*2350+236T>G) c.2780T>G (p.Leu927Arg) c.1964T>G (p.Leu655Arg) c.1871T>G (p.Leu624Arg) | |
| 14 | g.67782863A>G | CA390170252 | ZFYVE26 | c.4289T>C (p.Leu1430Pro) n.4426T>C c.*2350+236T>C (n.*2350+236T>C) c.2780T>C (p.Leu927Pro) c.1964T>C (p.Leu655Pro) c.1871T>C (p.Leu624Pro) | |
| 14 | g.67782863A>T | CA390170254 | ZFYVE26 | c.4289T>A (p.Leu1430His) n.4426T>A c.*2350+236T>A (n.*2350+236T>A) c.2780T>A (p.Leu927His) c.1964T>A (p.Leu655His) c.1871T>A (p.Leu624His) | |
| 14 | g.67782864G>A | CA390170256 | ZFYVE26 | c.4288C>T (p.Leu1430Phe) n.4425C>T c.*2350+235C>T (n.*2350+235C>T) c.2779C>T (p.Leu927Phe) c.1963C>T (p.Leu655Phe) c.1870C>T (p.Leu624Phe) | ClinVar |
| 14 | g.67782864G>C | CA390170257 | ZFYVE26 | c.4288C>G (p.Leu1430Val) n.4425C>G c.*2350+235C>G (n.*2350+235C>G) c.2779C>G (p.Leu927Val) c.1963C>G (p.Leu655Val) c.1870C>G (p.Leu624Val) | dbSNP gnomAD v2 |
| 14 | g.67782864G= | CA2144027657 | ZFYVE26 | c.4288C= (p.Leu1430=) n.4425C= c.*2350+235C= (n.*2350+235C=) c.2779C= (p.Leu927=) c.1963C= (p.Leu655=) c.1870C= (p.Leu624=) | |
| 14 | g.67782864G>T | CA390170259 | ZFYVE26 | c.4288C>A (p.Leu1430Ile) n.4425C>A c.*2350+235C>A (n.*2350+235C>A) c.2779C>A (p.Leu927Ile) c.1963C>A (p.Leu655Ile) c.1870C>A (p.Leu624Ile) | |
| 14 | g.67782865G>A | CA486970581 | ZFYVE26 | c.4287C>T (p.Ala1429=) n.4424C>T c.*2350+234C>T (n.*2350+234C>T) c.2778C>T (p.Ala926=) c.1962C>T (p.Ala654=) c.1869C>T (p.Ala623=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.67782865G>C | CA486970582 | ZFYVE26 | c.4287C>G (p.Ala1429=) n.4424C>G c.*2350+234C>G (n.*2350+234C>G) c.2778C>G (p.Ala926=) c.1962C>G (p.Ala654=) c.1869C>G (p.Ala623=) | |
| 14 | g.67782865G>T | CA486970584 | ZFYVE26 | c.4287C>A (p.Ala1429=) n.4424C>A c.*2350+234C>A (n.*2350+234C>A) c.2778C>A (p.Ala926=) c.1962C>A (p.Ala654=) c.1869C>A (p.Ala623=) | |
| 14 | g.67782866G>A | CA390170262 | ZFYVE26 | c.4286C>T (p.Ala1429Val) n.4423C>T c.*2350+233C>T (n.*2350+233C>T) c.2777C>T (p.Ala926Val) c.1961C>T (p.Ala654Val) c.1868C>T (p.Ala623Val) | |
| 14 | g.67782866G>C | CA390170263 | ZFYVE26 | c.4286C>G (p.Ala1429Gly) n.4423C>G c.*2350+233C>G (n.*2350+233C>G) c.2777C>G (p.Ala926Gly) c.1961C>G (p.Ala654Gly) c.1868C>G (p.Ala623Gly) | |
| 14 | g.67782866G>T | CA390170265 | ZFYVE26 | c.4286C>A (p.Ala1429Asp) n.4423C>A c.*2350+233C>A (n.*2350+233C>A) c.2777C>A (p.Ala926Asp) c.1961C>A (p.Ala654Asp) c.1868C>A (p.Ala623Asp) | |
| 14 | g.67782867C>A | CA390170268 | ZFYVE26 | c.4285G>T (p.Ala1429Ser) n.4422G>T c.*2350+232G>T (n.*2350+232G>T) c.2776G>T (p.Ala926Ser) c.1960G>T (p.Ala654Ser) c.1867G>T (p.Ala623Ser) |