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 |
|---|---|---|---|---|---|
| 17 | g.41755843_41755923dup | CA2593969248 | JUP | c.2087-28_2139dup c.2138-28_2190dup | gnomAD v3 gnomAD v4 |
| 17 | g.41755857C>A | CA399490673 | JUP | c.2125G>T (p.Val709Leu) c.2176G>T (p.Val726Leu) | |
| 17 | g.41755857C>G | CA399490671 | JUP | c.2125G>C (p.Val709Leu) c.2176G>C (p.Val726Leu) | |
| 17 | g.41755857C>T | CA399490672 | JUP | c.2125G>A (p.Val709Met) c.2176G>A (p.Val726Met) | ClinVar |
| 17 | g.41755858A>C | CA399490674 | JUP | c.2124T>G (p.Asp708Glu) c.2175T>G (p.Asp725Glu) | |
| 17 | g.41755858A>G | CA500020142 | JUP | c.2124T>C (p.Asp708=) c.2175T>C (p.Asp725=) | |
| 17 | g.41755858A>T | CA399490676 | JUP | c.2124T>A (p.Asp708Glu) c.2175T>A (p.Asp725Glu) | |
| 17 | g.41755859T>A | CA399490678 | JUP | c.2123A>T (p.Asp708Val) c.2174A>T (p.Asp725Val) | |
| 17 | g.41755859T>C | CA399490679 | JUP | c.2123A>G (p.Asp708Gly) c.2174A>G (p.Asp725Gly) | |
| 17 | g.41755859T>G | CA399490680 | JUP | c.2123A>C (p.Asp708Ala) c.2174A>C (p.Asp725Ala) | |
| 17 | g.41755860C>A | CA399490682 | JUP | c.2122G>T (p.Asp708Tyr) c.2173G>T (p.Asp725Tyr) | |
| 17 | g.41755860C= | CA2260169475 | JUP | c.2122G= (p.Asp708=) c.2173G= (p.Asp725=) | |
| 17 | g.41755860C>G | CA399490684 | JUP | c.2122G>C (p.Asp708His) c.2173G>C (p.Asp725His) | gnomAD v4 |
| 17 | g.41755860C>T | CA308431 | JUP | c.2122G>A (p.Asp708Asn) c.2173G>A (p.Asp725Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755861G>A | CA500020159 | JUP | c.2121C>T (p.Ser707=) c.2172C>T (p.Ser724=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755861G>C | CA399490686 | JUP | c.2121C>G (p.Ser707Arg) c.2172C>G (p.Ser724Arg) | |
| 17 | g.41755861G= | CA2260169476 | JUP | c.2121C= (p.Ser707=) c.2172C= (p.Ser724=) | |
| 17 | g.41755861G>T | CA399490688 | JUP | c.2121C>A (p.Ser707Arg) c.2172C>A (p.Ser724Arg) | |
| 17 | g.41755862C>A | CA399490693 | JUP | c.2120G>T (p.Ser707Ile) c.2171G>T (p.Ser724Ile) | |
| 17 | g.41755862C>G | CA399490692 | JUP | c.2120G>C (p.Ser707Thr) c.2171G>C (p.Ser724Thr) | gnomAD v4 |
| 17 | g.41755862C>T | CA399490690 | JUP | c.2120G>A (p.Ser707Asn) c.2171G>A (p.Ser724Asn) | |
| 17 | g.41755863T>A | CA399490695 | JUP | c.2119A>T (p.Ser707Cys) c.2170A>T (p.Ser724Cys) | |
| 17 | g.41755863T>C | CA399490701 | JUP | c.2119A>G (p.Ser707Gly) c.2170A>G (p.Ser724Gly) | gnomAD v4 |
| 17 | g.41755863T>G | CA399490697 | JUP | c.2119A>C (p.Ser707Arg) c.2170A>C (p.Ser724Arg) | |
| 17 | g.41755863T= | CA2260169477 | JUP | c.2119A= (p.Ser707=) c.2170A= (p.Ser724=) | |
| 17 | g.41755864G>A | CA500020183 | JUP | c.2118C>T (p.Ser706=) c.2169C>T (p.Ser723=) | COSMIC |
| 17 | g.41755864G>C | CA500020189 | JUP | c.2118C>G (p.Ser706=) c.2169C>G (p.Ser723=) | |
| 17 | g.41755864G>T | CA500020187 | JUP | c.2118C>A (p.Ser706=) c.2169C>A (p.Ser723=) | |
| 17 | g.41755865dup | CA916081884 | JUP | c.2118dup (p.Ser707GlnfsTer6) c.2169dup (p.Ser724GlnfsTer6) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755865G>A | CA399490704 | JUP | c.2117C>T (p.Ser706Phe) c.2168C>T (p.Ser723Phe) | gnomAD v4 |
| 17 | g.41755865G>C | CA399490706 | JUP | c.2117C>G (p.Ser706Cys) c.2168C>G (p.Ser723Cys) | |
| 17 | g.41755865G>T | CA399490708 | JUP | c.2117C>A (p.Ser706Tyr) c.2168C>A (p.Ser723Tyr) | |
| 17 | g.41755866A= | CA2260169478 | JUP | c.2116T= (p.Ser706=) c.2167T= (p.Ser723=) | |
| 17 | g.41755866A>C | CA399490710 | JUP | c.2116T>G (p.Ser706Ala) c.2167T>G (p.Ser723Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755866A>G | CA399490712 | JUP | c.2116T>C (p.Ser706Pro) c.2167T>C (p.Ser723Pro) | COSMIC |
| 17 | g.41755866A>T | CA399490713 | JUP | c.2116T>A (p.Ser706Thr) c.2167T>A (p.Ser723Thr) | |
| 17 | g.41755867G>A | CA500020201 | JUP | c.2115C>T (p.Tyr705=) c.2166C>T (p.Tyr722=) | gnomAD v4 |
| 17 | g.41755867G>C | CA399490716 | JUP | c.2115C>G (p.Tyr705Ter) c.2166C>G (p.Tyr722Ter) | |
| 17 | g.41755867G>T | CA399490715 | JUP | c.2115C>A (p.Tyr705Ter) c.2166C>A (p.Tyr722Ter) | |
| 17 | g.41755868T>A | CA399490718 | JUP | c.2114A>T (p.Tyr705Phe) c.2165A>T (p.Tyr722Phe) | ClinVar |
| 17 | g.41755868T>C | CA399490719 | JUP | c.2114A>G (p.Tyr705Cys) c.2165A>G (p.Tyr722Cys) | |
| 17 | g.41755868T>G | CA399490721 | JUP | c.2114A>C (p.Tyr705Ser) c.2165A>C (p.Tyr722Ser) | gnomAD v4 |
| 17 | g.41755869A>C | CA399490723 | JUP | c.2113T>G (p.Tyr705Asp) c.2164T>G (p.Tyr722Asp) | |
| 17 | g.41755869A>G | CA399490725 | JUP | c.2113T>C (p.Tyr705His) c.2164T>C (p.Tyr722His) | |
| 17 | g.41755869A>T | CA399490726 | JUP | c.2113T>A (p.Tyr705Asn) c.2164T>A (p.Tyr722Asn) | |
| 17 | g.41755870C>A | CA399490730 | JUP | c.2112G>T (p.Met704Ile) c.2163G>T (p.Met721Ile) | |
| 17 | g.41755870C= | CA2260169479 | JUP | c.2112G= (p.Met704=) c.2163G= (p.Met721=) | |
| 17 | g.41755870C>G | CA399490728 | JUP | c.2112G>C (p.Met704Ile) c.2163G>C (p.Met721Ile) | |
| 17 | g.41755870C>T | CA399490729 | JUP | c.2112G>A (p.Met704Ile) c.2163G>A (p.Met721Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755871A>C | CA399490732 | JUP | c.2111T>G (p.Met704Arg) c.2162T>G (p.Met721Arg) | |
| 17 | g.41755871A>G | CA399490733 | JUP | c.2111T>C (p.Met704Thr) c.2162T>C (p.Met721Thr) | gnomAD v4 |
| 17 | g.41755871A>T | CA399490734 | JUP | c.2111T>A (p.Met704Lys) c.2162T>A (p.Met721Lys) | |
| 17 | g.41755872T>A | CA399490735 | JUP | c.2110A>T (p.Met704Leu) c.2161A>T (p.Met721Leu) | |
| 17 | g.41755872T>C | CA399490736 | JUP | c.2110A>G (p.Met704Val) c.2161A>G (p.Met721Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755872T>G | CA399490737 | JUP | c.2110A>C (p.Met704Leu) c.2161A>C (p.Met721Leu) | |
| 17 | g.41755872T= | CA2260169480 | JUP | c.2110A= (p.Met704=) c.2161A= (p.Met721=) | |
| 17 | g.41755873G>A | CA500020219 | JUP | c.2109C>T (p.Pro703=) c.2160C>T (p.Pro720=) | |
| 17 | g.41755873G>C | CA500020221 | JUP | c.2109C>G (p.Pro703=) c.2160C>G (p.Pro720=) | |
| 17 | g.41755873G>T | CA500020224 | JUP | c.2109C>A (p.Pro703=) c.2160C>A (p.Pro720=) | |
| 17 | g.41755876del | CA2637858001 | JUP | c.2109del (p.Met704CysfsTer?) c.2160del (p.Met721CysfsTer?) | gnomAD v4 |
| 17 | g.41755874G>A | CA399490738 | JUP | c.2108C>T (p.Pro703Leu) c.2159C>T (p.Pro720Leu) | |
| 17 | g.41755874G>C | CA290694754 | JUP | c.2108C>G (p.Pro703Arg) c.2159C>G (p.Pro720Arg) | ClinVar dbSNP |
| 17 | g.41755874G= | CA2260169481 | JUP | c.2108C= (p.Pro703=) c.2159C= (p.Pro720=) | |
| 17 | g.41755874G>T | CA399490739 | JUP | c.2108C>A (p.Pro703His) c.2159C>A (p.Pro720His) | |
| 17 | g.41755875G>A | CA399490741 | JUP | c.2107C>T (p.Pro703Ser) c.2158C>T (p.Pro720Ser) | |
| 17 | g.41755875G>C | CA399490743 | JUP | c.2107C>G (p.Pro703Ala) c.2158C>G (p.Pro720Ala) | |
| 17 | g.41755875G>T | CA399490744 | JUP | c.2107C>A (p.Pro703Thr) c.2158C>A (p.Pro720Thr) | gnomAD v4 |
| 17 | g.41755876G>A | CA500020234 | JUP | c.2106C>T (p.Arg702=) c.2157C>T (p.Arg719=) | gnomAD v4 |
| 17 | g.41755876G>C | CA500020238 | JUP | c.2106C>G (p.Arg702=) c.2157C>G (p.Arg719=) | |
| 17 | g.41755876G>T | CA500020237 | JUP | c.2106C>A (p.Arg702=) c.2157C>A (p.Arg719=) | |
| 17 | g.41755877C>A | CA399490746 | JUP | c.2105G>T (p.Arg702Leu) c.2156G>T (p.Arg719Leu) | gnomAD v4 |
| 17 | g.41755877C= | CA2260169482 | JUP | c.2105G= (p.Arg702=) c.2156G= (p.Arg719=) | |
| 17 | g.41755877C>G | CA399490748 | JUP | c.2105G>C (p.Arg702Pro) c.2156G>C (p.Arg719Pro) | |
| 17 | g.41755877C>T | CA183151 | JUP | c.2105G>A (p.Arg702His) c.2156G>A (p.Arg719His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755878G>A | CA8565003 | JUP | c.2104C>T (p.Arg702Cys) c.2155C>T (p.Arg719Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41755878G>C | CA399490750 | JUP | c.2104C>G (p.Arg702Gly) c.2155C>G (p.Arg719Gly) | |
| 17 | g.41755878G= | CA2260169483 | JUP | c.2104C= (p.Arg702=) c.2155C= (p.Arg719=) | |
| 17 | g.41755878G>T | CA399490752 | JUP | c.2104C>A (p.Arg702Ser) c.2155C>A (p.Arg719Ser) | |
| 17 | g.41755879G>A | CA500020245 | JUP | c.2103C>T (p.Tyr701=) c.2154C>T (p.Tyr718=) | gnomAD v4 |
| 17 | g.41755879G>C | CA399490754 | JUP | c.2103C>G (p.Tyr701Ter) c.2154C>G (p.Tyr718Ter) | |
| 17 | g.41755879G>T | CA399490755 | JUP | c.2103C>A (p.Tyr701Ter) c.2154C>A (p.Tyr718Ter) | |
| 17 | g.41755880T>A | CA399490758 | JUP | c.2102A>T (p.Tyr701Phe) c.2153A>T (p.Tyr718Phe) | |
| 17 | g.41755880T>C | CA8565004 | JUP | c.2102A>G (p.Tyr701Cys) c.2153A>G (p.Tyr718Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41755880T>G | CA399490760 | JUP | c.2102A>C (p.Tyr701Ser) c.2153A>C (p.Tyr718Ser) | |
| 17 | g.41755880T= | CA2260169484 | JUP | c.2102A= (p.Tyr701=) c.2153A= (p.Tyr718=) | |
| 17 | g.41755881A>C | CA399490762 | JUP | c.2101T>G (p.Tyr701Asp) c.2152T>G (p.Tyr718Asp) | |
| 17 | g.41755881A>G | CA399490763 | JUP | c.2101T>C (p.Tyr701His) c.2152T>C (p.Tyr718His) | gnomAD v4 |
| 17 | g.41755881A>T | CA399490764 | JUP | c.2101T>A (p.Tyr701Asn) c.2152T>A (p.Tyr718Asn) | |
| 17 | g.41755882G>A | CA500020266 | JUP | c.2100C>T (p.Thr700=) c.2151C>T (p.Thr717=) | dbSNP gnomAD v2 |
| 17 | g.41755882G>C | CA500020268 | JUP | c.2100C>G (p.Thr700=) c.2151C>G (p.Thr717=) | ClinVar |
| 17 | g.41755882G= | CA2260169485 | JUP | c.2100C= (p.Thr700=) c.2151C= (p.Thr717=) | |
| 17 | g.41755882G>T | CA500020271 | JUP | c.2100C>A (p.Thr700=) c.2151C>A (p.Thr717=) | |
| 17 | g.41755883G>A | CA399490769 | JUP | c.2099C>T (p.Thr700Ile) c.2150C>T (p.Thr717Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755883G>C | CA399490767 | JUP | c.2099C>G (p.Thr700Ser) c.2150C>G (p.Thr717Ser) | |
| 17 | g.41755883G= | CA2260169486 | JUP | c.2099C= (p.Thr700=) c.2150C= (p.Thr717=) | |
| 17 | g.41755883G>T | CA399490766 | JUP | c.2099C>A (p.Thr700Asn) c.2150C>A (p.Thr717Asn) | |
| 17 | g.41755884T>A | CA399490771 | JUP | c.2098A>T (p.Thr700Ser) c.2149A>T (p.Thr717Ser) | |
| 17 | g.41755884T>C | CA399490773 | JUP | c.2098A>G (p.Thr700Ala) c.2149A>G (p.Thr717Ala) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755884T>G | CA399490774 | JUP | c.2098A>C (p.Thr700Pro) c.2149A>C (p.Thr717Pro) | |
| 17 | g.41755884T= | CA2260169487 | JUP | c.2098A= (p.Thr700=) c.2149A= (p.Thr717=) | |
| 17 | g.41755885G>A | CA500020284 | JUP | c.2097C>T (p.Ala699=) c.2148C>T (p.Ala716=) | |
| 17 | g.41755885G>C | CA500020286 | JUP | c.2097C>G (p.Ala699=) c.2148C>G (p.Ala716=) | |
| 17 | g.41755885G>T | CA500020288 | JUP | c.2097C>A (p.Ala699=) c.2148C>A (p.Ala716=) | |
| 17 | g.41755886G>A | CA399490776 | JUP | c.2096C>T (p.Ala699Val) c.2147C>T (p.Ala716Val) | gnomAD v4 |
| 17 | g.41755886G>C | CA399490778 | JUP | c.2096C>G (p.Ala699Gly) c.2147C>G (p.Ala716Gly) | |
| 17 | g.41755886G>T | CA399490780 | JUP | c.2096C>A (p.Ala699Asp) c.2147C>A (p.Ala716Asp) | |
| 17 | g.41755887C>A | CA8565005 | JUP | c.2095G>T (p.Ala699Ser) c.2146G>T (p.Ala716Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755887C= | CA2260169488 | JUP | c.2095G= (p.Ala699=) c.2146G= (p.Ala716=) | |
| 17 | g.41755887C>G | CA399490783 | JUP | c.2095G>C (p.Ala699Pro) c.2146G>C (p.Ala716Pro) | |
| 17 | g.41755887C>T | CA399490784 | JUP | c.2095G>A (p.Ala699Thr) c.2146G>A (p.Ala716Thr) | |
| 17 | g.41755888A>C | CA399490786 | JUP | c.2094T>G (p.Asp698Glu) c.2145T>G (p.Asp715Glu) | |
| 17 | g.41755888A>G | CA500020305 | JUP | c.2094T>C (p.Asp698=) c.2145T>C (p.Asp715=) | |
| 17 | g.41755888A>T | CA399490788 | JUP | c.2094T>A (p.Asp698Glu) c.2145T>A (p.Asp715Glu) | |
| 17 | g.41755889T>A | CA399490793 | JUP | c.2093A>T (p.Asp698Val) c.2144A>T (p.Asp715Val) | |
| 17 | g.41755889T>C | CA399490791 | JUP | c.2093A>G (p.Asp698Gly) c.2144A>G (p.Asp715Gly) | |
| 17 | g.41755889T>G | CA399490790 | JUP | c.2093A>C (p.Asp698Ala) c.2144A>C (p.Asp715Ala) | |
| 17 | g.41755890C>A | CA399490794 | JUP | c.2092G>T (p.Asp698Tyr) c.2143G>T (p.Asp715Tyr) | gnomAD v4 |
| 17 | g.41755890C= | CA2260169489 | JUP | c.2092G= (p.Asp698=) c.2143G= (p.Asp715=) | |
| 17 | g.41755890C>G | CA399490798 | JUP | c.2092G>C (p.Asp698His) c.2143G>C (p.Asp715His) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755890C>T | CA399490796 | JUP | c.2092G>A (p.Asp698Asn) c.2143G>A (p.Asp715Asn) | |
| 17 | g.41755891C>A | CA399490799 | JUP | c.2091G>T (p.Met697Ile) c.2142G>T (p.Met714Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755891C= | CA2260169490 | JUP | c.2091G= (p.Met697=) c.2142G= (p.Met714=) | |
| 17 | g.41755891C>G | CA399490800 | JUP | c.2091G>C (p.Met697Ile) c.2142G>C (p.Met714Ile) | |
| 17 | g.41755891C>T | CA399490801 | JUP | c.2091G>A (p.Met697Ile) c.2142G>A (p.Met714Ile) | gnomAD v3 gnomAD v4 |
| 17 | g.41755892A>C | CA399490803 | JUP | c.2090T>G (p.Met697Arg) c.2141T>G (p.Met714Arg) | |
| 17 | g.41755892A>G | CA399490804 | JUP | c.2090T>C (p.Met697Thr) c.2141T>C (p.Met714Thr) | gnomAD v4 |
| 17 | g.41755892A>T | CA399490805 | JUP | c.2090T>A (p.Met697Lys) c.2141T>A (p.Met714Lys) | |
| 17 | g.41755893T>A | CA137178 | JUP | c.2089A>T (p.Met697Leu) c.2140A>T (p.Met714Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755893T>C | CA399490807 | JUP | c.2089A>G (p.Met697Val) c.2140A>G (p.Met714Val) | dbSNP gnomAD v4 |
| 17 | g.41755893T>G | CA399490809 | JUP | c.2089A>C (p.Met697Leu) c.2140A>C (p.Met714Leu) | dbSNP gnomAD v4 |
| 17 | g.41755893T= | CA2260169491 | JUP | c.2089A= (p.Met697=) c.2140A= (p.Met714=) | |
| 17 | g.41755893_41755899del | CA2637858003 | JUP | c.2087-4_2089del c.2138-4_2140del | gnomAD v4 |
| 17 | g.41755893_41755901del | CA2637858004 | JUP | c.2087-6_2089del c.2138-6_2140del | gnomAD v4 |
| 17 | g.41755893_41755894insCTGGGGAAGAGTACATGGGGCGGTAGGTGGCATCCAA | CA983779746 | JUP | c.2088_2089insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met697LeufsTer28) c.2139_2140insTTGGATGCCACCTACCGCCCCATGTACTCTTCCCCAG (p.Met714LeufsTer28) | gnomAD v3 gnomAD v4 |
| 17 | g.41755894G>A | CA500020336 | JUP | c.2088C>T (p.Asp696=) c.2139C>T (p.Asp713=) | |
| 17 | g.41755894G>C | CA399490812 | JUP | c.2088C>G (p.Asp696Glu) c.2139C>G (p.Asp713Glu) | |
| 17 | g.41755894G>T | CA399490813 | JUP | c.2088C>A (p.Asp696Glu) c.2139C>A (p.Asp713Glu) | |
| 17 | g.41755895T>A | CA399490818 | JUP | c.2087A>T (p.Asp696Val) c.2138A>T (p.Asp713Val) | |
| 17 | g.41755895T>C | CA399490817 | JUP | c.2087A>G (p.Asp696Gly) c.2138A>G (p.Asp713Gly) | |
| 17 | g.41755895T>G | CA399490815 | JUP | c.2087A>C (p.Asp696Ala) c.2138A>C (p.Asp713Ala) | |
| 17 | g.41755896C>A | CA399490820 | JUP | c.2087-1G>T (n.2087-1G>T) c.2138-1G>T (n.2138-1G>T) | |
| 17 | g.41755896C>G | CA399490821 | JUP | c.2087-1G>C (n.2087-1G>C) c.2138-1G>C (n.2138-1G>C) | |
| 17 | g.41755896C>T | CA399490823 | JUP | c.2087-1G>A (n.2087-1G>A) c.2138-1G>A (n.2138-1G>A) | |
| 17 | g.41755897T>A | CA399490825 | JUP | c.2087-2A>T (n.2087-2A>T) c.2138-2A>T (n.2138-2A>T) | gnomAD v4 |
| 17 | g.41755897T>C | CA399490826 | JUP | c.2087-2A>G (n.2087-2A>G) c.2138-2A>G (n.2138-2A>G) | |
| 17 | g.41755897T>G | CA399490828 | JUP | c.2087-2A>C (n.2087-2A>C) c.2138-2A>C (n.2138-2A>C) | |
| 17 | g.41755898G>A | CA2576268736 | JUP | c.2087-3C>T (n.2087-3C>T) c.2138-3C>T (n.2138-3C>T) | |
| 17 | g.41755901del | CA2637858005 | JUP | c.2087-3del (n.2087-3del) c.2138-3del (n.2138-3del) | gnomAD v4 |
| 17 | g.41755899G>T | CA2580093700 | JUP | c.2087-4C>A (n.2087-4C>A) c.2138-4C>A (n.2138-4C>A) | ClinVar gnomAD v4 |
| 17 | g.41755900G>A | CA10650097 | JUP | c.2087-5C>T (n.2087-5C>T) c.2138-5C>T (n.2138-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755900G= | CA2260169492 | JUP | c.2087-5C= (n.2087-5C=) c.2138-5C= (n.2138-5C=) | |
| 17 | g.41755900G>T | CA2637858006 | JUP | c.2087-5C>A (n.2087-5C>A) c.2138-5C>A (n.2138-5C>A) | gnomAD v4 |
| 17 | g.41755901G>A | CA2637858007 | JUP | c.2087-6C>T (n.2087-6C>T) c.2138-6C>T (n.2138-6C>T) | gnomAD v4 |
| 17 | g.41755902_41755903insAAAAAAA | CA2637858008 | JUP | c.2087-7_2087-6insTTTTTTT (n.2087-7_2087-6insTTTTTTT) c.2138-7_2138-6insTTTTTTT (n.2138-7_2138-6insTTTTTTT) | gnomAD v4 |
| 17 | g.41755903C>A | CA626025219 | JUP | c.2087-8G>T (n.2087-8G>T) c.2138-8G>T (n.2138-8G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755903C= | CA2260169493 | JUP | c.2087-8G= (n.2087-8G=) c.2138-8G= (n.2138-8G=) | |
| 17 | g.41755903C>T | CA2580093701 | JUP | c.2087-8G>A (n.2087-8G>A) c.2138-8G>A (n.2138-8G>A) | ClinVar |
| 17 | g.41755903_41755904delinsAG | CA2573153757 | JUP | c.2087-9_2087-8delinsCT (n.2087-9_2087-8delinsCT) c.2138-9_2138-8delinsCT (n.2138-9_2138-8delinsCT) | ClinVar dbSNP |
| 17 | g.41755904A= | CA2260169494 | JUP | c.2087-9T= (n.2087-9T=) c.2138-9T= (n.2138-9T=) | |
| 17 | g.41755904A>G | CA2260169495 | JUP | c.2087-9T>C (n.2087-9T>C) c.2138-9T>C (n.2138-9T>C) | dbSNP |
| 17 | g.41755908del | CA2637858009 | JUP | c.2087-9del (n.2087-9del) c.2138-9del (n.2138-9del) | gnomAD v4 |
| 17 | g.41755905A>G | CA2637858010 | JUP | c.2087-10T>C (n.2087-10T>C) c.2138-10T>C (n.2138-10T>C) | gnomAD v4 |
| 17 | g.41755906A>G | CA2637858011 | JUP | c.2087-11T>C (n.2087-11T>C) c.2138-11T>C (n.2138-11T>C) | gnomAD v4 |
| 17 | g.41755907A>G | CA2637858012 | JUP | c.2087-12T>C (n.2087-12T>C) c.2138-12T>C (n.2138-12T>C) | gnomAD v4 |
| 17 | g.41755908A>G | CA2637858013 | JUP | c.2087-13T>C (n.2087-13T>C) c.2138-13T>C (n.2138-13T>C) | gnomAD v4 |
| 17 | g.41755909G>A | CA8565006 | JUP | c.2087-14C>T (n.2087-14C>T) c.2138-14C>T (n.2138-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755909G= | CA2260169496 | JUP | c.2087-14C= (n.2087-14C=) c.2138-14C= (n.2138-14C=) | |
| 17 | g.41755910T>G | CA983779758 | JUP | c.2087-15A>C (n.2087-15A>C) c.2138-15A>C (n.2138-15A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755910T= | CA2260169497 | JUP | c.2087-15A= (n.2087-15A=) c.2138-15A= (n.2138-15A=) | |
| 17 | g.41755911G>T | CA2637858015 | JUP | c.2087-16C>A (n.2087-16C>A) c.2138-16C>A (n.2138-16C>A) | gnomAD v4 |
| 17 | g.41755914del | CA2637858014 | JUP | c.2087-16del (n.2087-16del) c.2138-16del (n.2138-16del) | gnomAD v4 |
| 17 | g.41755912G>A | CA2576268737 | JUP | c.2087-17C>T (n.2087-17C>T) c.2138-17C>T (n.2138-17C>T) | ClinVar gnomAD v4 |
| 17 | g.41755912G>T | CA2637858016 | JUP | c.2087-17C>A (n.2087-17C>A) c.2138-17C>A (n.2138-17C>A) | gnomAD v4 |
| 17 | g.41755913G>A | CA8565007 | JUP | c.2087-18C>T (n.2087-18C>T) c.2138-18C>T (n.2138-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755913G= | CA2260169498 | JUP | c.2087-18C= (n.2087-18C=) c.2138-18C= (n.2138-18C=) | |
| 17 | g.41755913G>T | CA2260169499 | JUP | c.2087-18C>A (n.2087-18C>A) c.2138-18C>A (n.2138-18C>A) | dbSNP |
| 17 | g.41755914G>A | CA2260169501 | JUP | c.2087-19C>T (n.2087-19C>T) c.2138-19C>T (n.2138-19C>T) | dbSNP gnomAD v4 |
| 17 | g.41755914G>C | CA2576268738 | JUP | c.2087-19C>G (n.2087-19C>G) c.2138-19C>G (n.2138-19C>G) | |
| 17 | g.41755914G= | CA2260169500 | JUP | c.2087-19C= (n.2087-19C=) c.2138-19C= (n.2138-19C=) | |
| 17 | g.41755914G>T | CA2573153758 | JUP | c.2087-19C>A (n.2087-19C>A) c.2138-19C>A (n.2138-19C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41755915C>A | CA2637858017 | JUP | c.2087-20G>T (n.2087-20G>T) c.2138-20G>T (n.2138-20G>T) | gnomAD v4 |
| 17 | g.41755917C= | CA2260169502 | JUP | c.2087-22G= (n.2087-22G=) c.2138-22G= (n.2138-22G=) | |
| 17 | g.41755917C>G | CA2637858018 | JUP | c.2087-22G>C (n.2087-22G>C) c.2138-22G>C (n.2138-22G>C) | gnomAD v4 |
| 17 | g.41755917C>T | CA8565008 | JUP | c.2087-22G>A (n.2087-22G>A) c.2138-22G>A (n.2138-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755918G>A | CA8565009 | JUP | c.2087-23C>T (n.2087-23C>T) c.2138-23C>T (n.2138-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755918G= | CA2260169503 | JUP | c.2087-23C= (n.2087-23C=) c.2138-23C= (n.2138-23C=) | |
| 17 | g.41755918G>T | CA2637858019 | JUP | c.2087-23C>A (n.2087-23C>A) c.2138-23C>A (n.2138-23C>A) | gnomAD v4 |
| 17 | g.41755919G= | CA2260169504 | JUP | c.2087-24C= (n.2087-24C=) c.2138-24C= (n.2138-24C=) | |
| 17 | g.41755919G>T | CA626025220 | JUP | c.2087-24C>A (n.2087-24C>A) c.2138-24C>A (n.2138-24C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755921C>A | CA2637858020 | JUP | c.2087-26G>T (n.2087-26G>T) c.2138-26G>T (n.2138-26G>T) | gnomAD v4 |
| 17 | g.41755922C>A | CA2509275048 | JUP | c.2087-27G>T (n.2087-27G>T) c.2138-27G>T (n.2138-27G>T) | |
| 17 | g.41755923T>C | CA2637858021 | JUP | c.2087-28A>G (n.2087-28A>G) c.2138-28A>G (n.2138-28A>G) | gnomAD v4 |
| 17 | g.41755924A>C | CA2733700615 | JUP | c.2087-29T>G (n.2087-29T>G) c.2138-29T>G (n.2138-29T>G) | dbSNP |
| 17 | g.41755924A>G | CA2637858022 | JUP | c.2087-29T>C (n.2087-29T>C) c.2138-29T>C (n.2138-29T>C) | gnomAD v4 |
| 17 | g.41755925G>A | CA772060276 | JUP | c.2087-30C>T (n.2087-30C>T) c.2138-30C>T (n.2138-30C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755925G= | CA2260169505 | JUP | c.2087-30C= (n.2087-30C=) c.2138-30C= (n.2138-30C=) | |
| 17 | g.41755925G>T | CA2637858023 | JUP | c.2087-30C>A (n.2087-30C>A) c.2138-30C>A (n.2138-30C>A) | gnomAD v4 |
| 17 | g.41755926G>T | CA2637858024 | JUP | c.2087-31C>A (n.2087-31C>A) c.2138-31C>A (n.2138-31C>A) | gnomAD v4 |
| 17 | g.41755927G>T | CA2637858025 | JUP | c.2087-32C>A (n.2087-32C>A) c.2138-32C>A (n.2138-32C>A) | gnomAD v4 |
| 17 | g.41755928del | CA2637858026 | JUP | c.2087-33del (n.2087-33del) c.2138-33del (n.2138-33del) | gnomAD v4 |
| 17 | g.41755929C= | CA2260169506 | JUP | c.2087-34G= (n.2087-34G=) c.2138-34G= (n.2138-34G=) | |
| 17 | g.41755929C>G | CA8565010 | JUP | c.2087-34G>C (n.2087-34G>C) c.2138-34G>C (n.2138-34G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755929_41755930insAAGGGGCACATCGCTGGAGTACATGGGGCGG | CA2733700634 | JUP | c.2087-35_2087-34insCCGCCCCATGTACTCCAGCGATGTGCCCCTT (n.2087-35_2087-34insCCGCCCCATGTACTCCAGCGATGTGCCCCTT) c.2138-35_2138-34insCCGCCCCATGTACTCCAGCGATGTGCCCCTT (n.2138-35_2138-34insCCGCCCCATGTACTCCAGCGATGTGCCCCTT) | dbSNP |
| 17 | g.41755930T>C | CA2637858027 | JUP | c.2087-35A>G (n.2087-35A>G) c.2138-35A>G (n.2138-35A>G) | gnomAD v4 |
| 17 | g.41755931G>A | CA2576268739 | JUP | c.2087-36C>T (n.2087-36C>T) c.2138-36C>T (n.2138-36C>T) | gnomAD v4 |
| 17 | g.41755932C>T | CA2637858028 | JUP | c.2087-37G>A (n.2087-37G>A) c.2138-37G>A (n.2138-37G>A) | gnomAD v4 |
| 17 | g.41755934A>C | CA2809501048 | JUP | c.2087-39T>G (n.2087-39T>G) c.2138-39T>G (n.2138-39T>G) | |
| 17 | g.41755935G>A | CA2260169508 | JUP | c.2087-40C>T (n.2087-40C>T) c.2138-40C>T (n.2138-40C>T) | dbSNP |
| 17 | g.41755935G= | CA2260169507 | JUP | c.2087-40C= (n.2087-40C=) c.2138-40C= (n.2138-40C=) | |
| 17 | g.41755935G>T | CA626025221 | JUP | c.2087-40C>A (n.2087-40C>A) c.2138-40C>A (n.2138-40C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755936C>A | CA2637858030 | JUP | c.2087-41G>T (n.2087-41G>T) c.2138-41G>T (n.2138-41G>T) | gnomAD v4 |
| 17 | g.41755936C= | CA2260169509 | JUP | c.2087-41G= (n.2087-41G=) c.2138-41G= (n.2138-41G=) | |
| 17 | g.41755936C>G | CA626025222 | JUP | c.2087-41G>C (n.2087-41G>C) c.2138-41G>C (n.2138-41G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41755936C>T | CA8565011 | JUP | c.2087-41G>A (n.2087-41G>A) c.2138-41G>A (n.2138-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755937_41755940dup | CA2637858029 | JUP | c.2087-44_2087-41dup (n.2087-44_2087-41dup) c.2138-44_2138-41dup (n.2138-44_2138-41dup) | gnomAD v4 |
| 17 | g.41755940C>A | CA290694768 | JUP | c.2087-45G>T (n.2087-45G>T) c.2138-45G>T (n.2138-45G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41755940C= | CA2260169510 | JUP | c.2087-45G= (n.2087-45G=) c.2138-45G= (n.2138-45G=) | |
| 17 | g.41755940C>T | CA2260169511 | JUP | c.2087-45G>A (n.2087-45G>A) c.2138-45G>A (n.2138-45G>A) | dbSNP gnomAD v4 |
| 17 | g.41755941C>A | CA2637858031 | JUP | c.2087-46G>T (n.2087-46G>T) c.2138-46G>T (n.2138-46G>T) | gnomAD v4 |
| 17 | g.41755942T>G | CA2637858032 | JUP | c.2087-47A>C (n.2087-47A>C) c.2138-47A>C (n.2138-47A>C) | gnomAD v4 |
| 17 | g.41755943G>A | CA772060283 | JUP | c.2087-48C>T (n.2087-48C>T) c.2138-48C>T (n.2138-48C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755943G= | CA2260169512 | JUP | c.2087-48C= (n.2087-48C=) c.2138-48C= (n.2138-48C=) | |
| 17 | g.41755943G>T | CA290694776 | JUP | c.2087-48C>A (n.2087-48C>A) c.2138-48C>A (n.2138-48C>A) | dbSNP gnomAD v4 |
| 17 | g.41755944C>A | CA983779778 | JUP | c.2087-49G>T (n.2087-49G>T) c.2138-49G>T (n.2138-49G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41755944C= | CA2260169513 | JUP | c.2087-49G= (n.2087-49G=) c.2138-49G= (n.2138-49G=) | |
| 17 | g.41755944C>T | CA2637858033 | JUP | c.2087-49G>A (n.2087-49G>A) c.2138-49G>A (n.2138-49G>A) | gnomAD v4 |
| 17 | g.41755946G>A | CA2637858034 | JUP | c.2087-51C>T (n.2087-51C>T) c.2138-51C>T (n.2138-51C>T) | gnomAD v4 |
| 17 | g.41755946G>C | CA2637858035 | JUP | c.2087-51C>G (n.2087-51C>G) c.2138-51C>G (n.2138-51C>G) | gnomAD v4 |
| 17 | g.41755947G>A | CA2637858036 | JUP | c.2087-52C>T (n.2087-52C>T) c.2138-52C>T (n.2138-52C>T) | gnomAD v4 |
| 17 | g.41755947G>T | CA2637858037 | JUP | c.2087-52C>A (n.2087-52C>A) c.2138-52C>A (n.2138-52C>A) | gnomAD v4 |
| 17 | g.41755949A>C | CA656362506 | JUP | c.2087-54T>G (n.2087-54T>G) c.2138-54T>G (n.2138-54T>G) | COSMIC |
| 17 | g.41755950G>A | CA2637858038 | JUP | c.2087-55C>T (n.2087-55C>T) c.2138-55C>T (n.2138-55C>T) | gnomAD v4 |
| 17 | g.41755950G>T | CA2637858039 | JUP | c.2087-55C>A (n.2087-55C>A) c.2138-55C>A (n.2138-55C>A) | gnomAD v4 |
| 17 | g.41755951C>A | CA2637858040 | JUP | c.2087-56G>T (n.2087-56G>T) c.2138-56G>T (n.2138-56G>T) | gnomAD v4 |
| 17 | g.41755951C>T | CA2637858041 | JUP | c.2087-56G>A (n.2087-56G>A) c.2138-56G>A (n.2138-56G>A) | gnomAD v4 |
| 17 | g.41755952A= | CA2260169514 | JUP | c.2087-57T= (n.2087-57T=) c.2138-57T= (n.2138-57T=) | |
| 17 | g.41755952A>C | CA772060288 | JUP | c.2087-57T>G (n.2087-57T>G) c.2138-57T>G (n.2138-57T>G) | dbSNP |
| 17 | g.41755953G>T | CA2637858042 | JUP | c.2087-58C>A (n.2087-58C>A) c.2138-58C>A (n.2138-58C>A) | gnomAD v4 |
| 17 | g.41755954T>C | CA2260169516 | JUP | c.2087-59A>G (n.2087-59A>G) c.2138-59A>G (n.2138-59A>G) | dbSNP |
| 17 | g.41755954T= | CA2260169515 | JUP | c.2087-59A= (n.2087-59A=) c.2138-59A= (n.2138-59A=) | |
| 17 | g.41755955del | CA2637858043 | JUP | c.2087-60del (n.2087-60del) c.2138-60del (n.2138-60del) | gnomAD v4 |
| 17 | g.41755955C>A | CA2637858044 | JUP | c.2087-60G>T (n.2087-60G>T) c.2138-60G>T (n.2138-60G>T) | gnomAD v4 |
| 17 | g.41755955C>T | CA2576268740 | JUP | c.2087-60G>A (n.2087-60G>A) c.2138-60G>A (n.2138-60G>A) | |
| 17 | g.41755957G>A | CA2576268741 | JUP | c.2087-62C>T (n.2087-62C>T) c.2138-62C>T (n.2138-62C>T) | gnomAD v4 |