WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.28018500_28018505del | CA645597692 | FLT3 | c.2503_2508del (p.Asp835_Ile836del) c.*415_*420del (n.*415_*420del) n.2717_2722del c.2446_2451del (p.Asp816_Ile817del) c.1978_1983del (p.Asp660_Ile661del) c.2287_2292del (p.Asp763_Ile764del) c.1624_1629del (p.Asp542_Ile543del) c.1606_1611del (p.Asp536_Ile537del) n.2701_2706del | dbSNP COSMIC |
| 13 | g.28018502_28018504del | CA645597695 | FLT3 | c.2504_2506del (p.Asp835_Ile836delinsVal) c.*416_*418del (n.*416_*418del) n.2718_2720del c.2447_2449del (p.Asp816_Ile817delinsVal) c.1979_1981del (p.Asp660_Ile661delinsVal) c.2288_2290del (p.Asp763_Ile764delinsVal) c.1625_1627del (p.Asp542_Ile543delinsVal) c.1607_1609del (p.Asp536_Ile537delinsVal) n.2702_2704del | dbSNP COSMIC |
| 13 | g.28018502_28018505delinsTATC | CA2080781467 | FLT3 | c.2503_2506delinsGATA (p.Asp835=) c.*415_*418delinsGATA (n.*415_*418delinsGATA) n.2717_2720delinsGATA c.2446_2449delinsGATA (p.Asp816=) c.1978_1981delinsGATA (p.Asp660=) c.2287_2290delinsGATA (p.Asp763=) c.1624_1627delinsGATA (p.Asp542=) c.1606_1609delinsGATA (p.Asp536=) n.2701_2704delinsGATA | |
| 13 | g.28018503_28018505del | CA280214 | FLT3 | c.2503_2505del (p.Asp835del) c.*415_*417del (n.*415_*417del) n.2717_2719del c.2446_2448del (p.Asp816del) c.1978_1980del (p.Asp660del) c.2287_2289del (p.Asp763del) c.1624_1626del (p.Asp542del) c.1606_1608del (p.Asp536del) n.2701_2703del | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.28018503_28018505delinsGAT | CA923726226 | FLT3 | c.2503_2505delinsATC (p.Asp835Ile) c.*415_*417delinsATC (n.*415_*417delinsATC) n.2717_2719delinsATC c.2446_2448delinsATC (p.Asp816Ile) c.1978_1980delinsATC (p.Asp660Ile) c.2287_2289delinsATC (p.Asp763Ile) c.1624_1626delinsATC (p.Asp542Ile) c.1606_1608delinsATC (p.Asp536Ile) n.2701_2703delinsATC | |
| 13 | g.28018503_28018505delinsTAT | CA923726227 | FLT3 | c.2503_2505delinsATA (p.Asp835Ile) c.*415_*417delinsATA (n.*415_*417delinsATA) n.2717_2719delinsATA c.2446_2448delinsATA (p.Asp816Ile) c.1978_1980delinsATA (p.Asp660Ile) c.2287_2289delinsATA (p.Asp763Ile) c.1624_1626delinsATA (p.Asp542Ile) c.1606_1608delinsATA (p.Asp536Ile) n.2701_2703delinsATA | |
| 13 | g.28018504_28018509del | CA645597696 | FLT3 | c.2500_2505del (p.Arg834_Asp835del) c.*412_*417del (n.*412_*417del) n.2714_2719del c.2443_2448del (p.Arg815_Asp816del) c.1975_1980del (p.Arg659_Asp660del) c.2284_2289del (p.Arg762_Asp763del) c.1621_1626del (p.Arg541_Asp542del) c.1603_1608del (p.Arg535_Asp536del) n.2698_2703del | COSMIC |
| 13 | g.28018504T>A | CA126344 | FLT3 | c.2504A>T (p.Asp835Val) c.*416A>T (n.*416A>T) n.2718A>T c.2447A>T (p.Asp816Val) c.1979A>T (p.Asp660Val) c.2288A>T (p.Asp763Val) c.1625A>T (p.Asp542Val) c.1607A>T (p.Asp536Val) n.2702A>T | ClinVar dbSNP COSMIC |
| 13 | g.28018504T>C | CA387650200 | FLT3 | c.2504A>G (p.Asp835Gly) c.*416A>G (n.*416A>G) n.2718A>G c.2447A>G (p.Asp816Gly) c.1979A>G (p.Asp660Gly) c.2288A>G (p.Asp763Gly) c.1625A>G (p.Asp542Gly) c.1607A>G (p.Asp536Gly) n.2702A>G | dbSNP |
| 13 | g.28018504T>G | CA16602450 | FLT3 | c.2504A>C (p.Asp835Ala) c.*416A>C (n.*416A>C) n.2718A>C c.2447A>C (p.Asp816Ala) c.1979A>C (p.Asp660Ala) c.2288A>C (p.Asp763Ala) c.1625A>C (p.Asp542Ala) c.1607A>C (p.Asp536Ala) n.2702A>C | ClinVar dbSNP COSMIC |
| 13 | g.28018504T= | CA2080781493 | FLT3 | c.2504A= (p.Asp835=) c.*416A= (n.*416A=) n.2718A= c.2447A= (p.Asp816=) c.1979A= (p.Asp660=) c.2288A= (p.Asp763=) c.1625A= (p.Asp542=) c.1607A= (p.Asp536=) n.2702A= | |
| 13 | g.28018504_28018505delinsAA | CA16602563 | FLT3 | c.2503_2504delinsTT (p.Asp835Phe) c.*415_*416delinsTT (n.*415_*416delinsTT) n.2717_2718delinsTT c.2446_2447delinsTT (p.Asp816Phe) c.1978_1979delinsTT (p.Asp660Phe) c.2287_2288delinsTT (p.Asp763Phe) c.1624_1625delinsTT (p.Asp542Phe) c.1606_1607delinsTT (p.Asp536Phe) n.2701_2702delinsTT | ClinVar dbSNP COSMIC |
| 13 | g.28018504_28018505delinsAT | CA923726224 | FLT3 | c.2503_2504delinsAT (p.Asp835Ile) c.*415_*416delinsAT (n.*415_*416delinsAT) n.2717_2718delinsAT c.2446_2447delinsAT (p.Asp816Ile) c.1978_1979delinsAT (p.Asp660Ile) c.2287_2288delinsAT (p.Asp763Ile) c.1624_1625delinsAT (p.Asp542Ile) c.1606_1607delinsAT (p.Asp536Ile) n.2701_2702delinsAT | |
| 13 | g.28018504_28018505delinsTC | CA2080781497 | FLT3 | c.2503_2504delinsGA (p.Asp835=) c.*415_*416delinsGA (n.*415_*416delinsGA) n.2717_2718delinsGA c.2446_2447delinsGA (p.Asp816=) c.1978_1979delinsGA (p.Asp660=) c.2287_2288delinsGA (p.Asp763=) c.1624_1625delinsGA (p.Asp542=) c.1606_1607delinsGA (p.Asp536=) n.2701_2702delinsGA | |
| 13 | g.28018505C>A | CA126347 | FLT3 | c.2503G>T (p.Asp835Tyr) c.*415G>T (n.*415G>T) n.2717G>T c.2446G>T (p.Asp816Tyr) c.1978G>T (p.Asp660Tyr) c.2287G>T (p.Asp763Tyr) c.1624G>T (p.Asp542Tyr) c.1606G>T (p.Asp536Tyr) n.2701G>T | ClinVar dbSNP COSMIC |
| 13 | g.28018505C= | CA2080781510 | FLT3 | c.2503G= (p.Asp835=) c.*415G= (n.*415G=) n.2717G= c.2446G= (p.Asp816=) c.1978G= (p.Asp660=) c.2287G= (p.Asp763=) c.1624G= (p.Asp542=) c.1606G= (p.Asp536=) n.2701G= | |
| 13 | g.28018505C>G | CA280208 | FLT3 | c.2503G>C (p.Asp835His) c.*415G>C (n.*415G>C) n.2717G>C c.2446G>C (p.Asp816His) c.1978G>C (p.Asp660His) c.2287G>C (p.Asp763His) c.1624G>C (p.Asp542His) c.1606G>C (p.Asp536His) n.2701G>C | ClinVar dbSNP COSMIC |
| 13 | g.28018505C>T | CA280211 | FLT3 | c.2503G>A (p.Asp835Asn) c.*415G>A (n.*415G>A) n.2717G>A c.2446G>A (p.Asp816Asn) c.1978G>A (p.Asp660Asn) c.2287G>A (p.Asp763Asn) c.1624G>A (p.Asp542Asn) c.1606G>A (p.Asp536Asn) n.2701G>A | ClinVar dbSNP COSMIC |
| 13 | g.28018506T>A | CA483042238 | FLT3 | c.2502A>T (p.Arg834=) c.*414A>T (n.*414A>T) n.2716A>T c.2445A>T (p.Arg815=) c.1977A>T (p.Arg659=) c.2286A>T (p.Arg762=) c.1623A>T (p.Arg541=) c.1605A>T (p.Arg535=) n.2700A>T | dbSNP |
| 13 | g.28018506T>C | CA483042236 | FLT3 | c.2502A>G (p.Arg834=) c.*414A>G (n.*414A>G) n.2716A>G c.2445A>G (p.Arg815=) c.1977A>G (p.Arg659=) c.2286A>G (p.Arg762=) c.1623A>G (p.Arg541=) c.1605A>G (p.Arg535=) n.2700A>G | |
| 13 | g.28018506T>G | CA483042237 | FLT3 | c.2502A>C (p.Arg834=) c.*414A>C (n.*414A>C) n.2716A>C c.2445A>C (p.Arg815=) c.1977A>C (p.Arg659=) c.2286A>C (p.Arg762=) c.1623A>C (p.Arg541=) c.1605A>C (p.Arg535=) n.2700A>C | dbSNP |
| 13 | g.28018506T= | CA2080781513 | FLT3 | c.2502A= (p.Arg834=) c.*414A= (n.*414A=) n.2716A= c.2445A= (p.Arg815=) c.1977A= (p.Arg659=) c.2286A= (p.Arg762=) c.1623A= (p.Arg541=) c.1605A= (p.Arg535=) n.2700A= | |
| 13 | g.28018507C>A | CA387650201 | FLT3 | c.2501G>T (p.Arg834Leu) c.*413G>T (n.*413G>T) n.2715G>T c.2444G>T (p.Arg815Leu) c.1976G>T (p.Arg659Leu) c.2285G>T (p.Arg762Leu) c.1622G>T (p.Arg541Leu) c.1604G>T (p.Arg535Leu) n.2699G>T | gnomAD v4 |
| 13 | g.28018507C= | CA2080781516 | FLT3 | c.2501G= (p.Arg834=) c.*413G= (n.*413G=) n.2715G= c.2444G= (p.Arg815=) c.1976G= (p.Arg659=) c.2285G= (p.Arg762=) c.1622G= (p.Arg541=) c.1604G= (p.Arg535=) n.2699G= | |
| 13 | g.28018507C>G | CA387650203 | FLT3 | c.2501G>C (p.Arg834Pro) c.*413G>C (n.*413G>C) n.2715G>C c.2444G>C (p.Arg815Pro) c.1976G>C (p.Arg659Pro) c.2285G>C (p.Arg762Pro) c.1622G>C (p.Arg541Pro) c.1604G>C (p.Arg535Pro) n.2699G>C | dbSNP gnomAD v4 |
| 13 | g.28018507C>T | CA387650202 | FLT3 | c.2501G>A (p.Arg834Gln) c.*413G>A (n.*413G>A) n.2715G>A c.2444G>A (p.Arg815Gln) c.1976G>A (p.Arg659Gln) c.2285G>A (p.Arg762Gln) c.1622G>A (p.Arg541Gln) c.1604G>A (p.Arg535Gln) n.2699G>A | dbSNP gnomAD v4 COSMIC |
| 13 | g.28018508G>A | CA6928305 | FLT3 | c.2500C>T (p.Arg834Ter) c.*412C>T (n.*412C>T) n.2714C>T c.2443C>T (p.Arg815Ter) c.1975C>T (p.Arg659Ter) c.2284C>T (p.Arg762Ter) c.1621C>T (p.Arg541Ter) c.1603C>T (p.Arg535Ter) n.2698C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.28018508G>C | CA387650204 | FLT3 | c.2500C>G (p.Arg834Gly) c.*412C>G (n.*412C>G) n.2714C>G c.2443C>G (p.Arg815Gly) c.1975C>G (p.Arg659Gly) c.2284C>G (p.Arg762Gly) c.1621C>G (p.Arg541Gly) c.1603C>G (p.Arg535Gly) n.2698C>G | dbSNP |
| 13 | g.28018508G= | CA2080781519 | FLT3 | c.2500C= (p.Arg834=) c.*412C= (n.*412C=) n.2714C= c.2443C= (p.Arg815=) c.1975C= (p.Arg659=) c.2284C= (p.Arg762=) c.1621C= (p.Arg541=) c.1603C= (p.Arg535=) n.2698C= | |
| 13 | g.28018508G>T | CA483042239 | FLT3 | c.2500C>A (p.Arg834=) c.*412C>A (n.*412C>A) n.2714C>A c.2443C>A (p.Arg815=) c.1975C>A (p.Arg659=) c.2284C>A (p.Arg762=) c.1621C>A (p.Arg541=) c.1603C>A (p.Arg535=) n.2698C>A | |
| 13 | g.28018509A>C | CA483042240 | FLT3 | c.2499T>G (p.Ala833=) c.*411T>G (n.*411T>G) n.2713T>G c.2442T>G (p.Ala814=) c.1974T>G (p.Ala658=) c.2283T>G (p.Ala761=) c.1620T>G (p.Ala540=) c.1602T>G (p.Ala534=) n.2697T>G | |
| 13 | g.28018509A>G | CA483042242 | FLT3 | c.2499T>C (p.Ala833=) c.*411T>C (n.*411T>C) n.2713T>C c.2442T>C (p.Ala814=) c.1974T>C (p.Ala658=) c.2283T>C (p.Ala761=) c.1620T>C (p.Ala540=) c.1602T>C (p.Ala534=) n.2697T>C | |
| 13 | g.28018509A>T | CA483042241 | FLT3 | c.2499T>A (p.Ala833=) c.*411T>A (n.*411T>A) n.2713T>A c.2442T>A (p.Ala814=) c.1974T>A (p.Ala658=) c.2283T>A (p.Ala761=) c.1620T>A (p.Ala540=) c.1602T>A (p.Ala534=) n.2697T>A | dbSNP |
| 13 | g.28018510G>A | CA387650205 | FLT3 | c.2498C>T (p.Ala833Val) c.*410C>T (n.*410C>T) n.2712C>T c.2441C>T (p.Ala814Val) c.1973C>T (p.Ala658Val) c.2282C>T (p.Ala761Val) c.1619C>T (p.Ala540Val) c.1601C>T (p.Ala534Val) n.2696C>T | dbSNP |
| 13 | g.28018510G>C | CA387650206 | FLT3 | c.2498C>G (p.Ala833Gly) c.*410C>G (n.*410C>G) n.2712C>G c.2441C>G (p.Ala814Gly) c.1973C>G (p.Ala658Gly) c.2282C>G (p.Ala761Gly) c.1619C>G (p.Ala540Gly) c.1601C>G (p.Ala534Gly) n.2696C>G | dbSNP |
| 13 | g.28018510G>T | CA387650207 | FLT3 | c.2498C>A (p.Ala833Asp) c.*410C>A (n.*410C>A) n.2712C>A c.2441C>A (p.Ala814Asp) c.1973C>A (p.Ala658Asp) c.2282C>A (p.Ala761Asp) c.1619C>A (p.Ala540Asp) c.1601C>A (p.Ala534Asp) n.2696C>A | COSMIC |
| 13 | g.28018511C>A | CA387650208 | FLT3 | c.2497G>T (p.Ala833Ser) c.*409G>T (n.*409G>T) n.2711G>T c.2440G>T (p.Ala814Ser) c.1972G>T (p.Ala658Ser) c.2281G>T (p.Ala761Ser) c.1618G>T (p.Ala540Ser) c.1600G>T (p.Ala534Ser) n.2695G>T | dbSNP |
| 13 | g.28018511C>G | CA387650209 | FLT3 | c.2497G>C (p.Ala833Pro) c.*409G>C (n.*409G>C) n.2711G>C c.2440G>C (p.Ala814Pro) c.1972G>C (p.Ala658Pro) c.2281G>C (p.Ala761Pro) c.1618G>C (p.Ala540Pro) c.1600G>C (p.Ala534Pro) n.2695G>C | dbSNP |
| 13 | g.28018511C>T | CA387650210 | FLT3 | c.2497G>A (p.Ala833Thr) c.*409G>A (n.*409G>A) n.2711G>A c.2440G>A (p.Ala814Thr) c.1972G>A (p.Ala658Thr) c.2281G>A (p.Ala761Thr) c.1618G>A (p.Ala540Thr) c.1600G>A (p.Ala534Thr) n.2695G>A | dbSNP |
| 13 | g.28018512C>A | CA387650211 | FLT3 | c.2496G>T (p.Leu832Phe) c.*408G>T (n.*408G>T) n.2710G>T c.2439G>T (p.Leu813Phe) c.1971G>T (p.Leu657Phe) c.2280G>T (p.Leu760Phe) c.1617G>T (p.Leu539Phe) c.1599G>T (p.Leu533Phe) n.2694G>T | dbSNP |
| 13 | g.28018512C>G | CA387650212 | FLT3 | c.2496G>C (p.Leu832Phe) c.*408G>C (n.*408G>C) n.2710G>C c.2439G>C (p.Leu813Phe) c.1971G>C (p.Leu657Phe) c.2280G>C (p.Leu760Phe) c.1617G>C (p.Leu539Phe) c.1599G>C (p.Leu533Phe) n.2694G>C | dbSNP COSMIC |
| 13 | g.28018512C>T | CA483042243 | FLT3 | c.2496G>A (p.Leu832=) c.*408G>A (n.*408G>A) n.2710G>A c.2439G>A (p.Leu813=) c.1971G>A (p.Leu657=) c.2280G>A (p.Leu760=) c.1617G>A (p.Leu539=) c.1599G>A (p.Leu533=) n.2694G>A | dbSNP gnomAD v4 |
| 13 | g.28018513A>C | CA387650213 | FLT3 | c.2495T>G (p.Leu832Trp) c.*407T>G (n.*407T>G) n.2709T>G c.2438T>G (p.Leu813Trp) c.1970T>G (p.Leu657Trp) c.2279T>G (p.Leu760Trp) c.1616T>G (p.Leu539Trp) c.1598T>G (p.Leu533Trp) n.2693T>G | |
| 13 | g.28018513A>G | CA387650214 | FLT3 | c.2495T>C (p.Leu832Ser) c.*407T>C (n.*407T>C) n.2709T>C c.2438T>C (p.Leu813Ser) c.1970T>C (p.Leu657Ser) c.2279T>C (p.Leu760Ser) c.1616T>C (p.Leu539Ser) c.1598T>C (p.Leu533Ser) n.2693T>C | |
| 13 | g.28018513A>T | CA387650215 | FLT3 | c.2495T>A (p.Leu832Ter) c.*407T>A (n.*407T>A) n.2709T>A c.2438T>A (p.Leu813Ter) c.1970T>A (p.Leu657Ter) c.2279T>A (p.Leu760Ter) c.1616T>A (p.Leu539Ter) c.1598T>A (p.Leu533Ter) n.2693T>A | dbSNP |
| 13 | g.28018514A>C | CA387650216 | FLT3 | c.2494T>G (p.Leu832Val) c.*406T>G (n.*406T>G) n.2708T>G c.2437T>G (p.Leu813Val) c.1969T>G (p.Leu657Val) c.2278T>G (p.Leu760Val) c.1615T>G (p.Leu539Val) c.1597T>G (p.Leu533Val) n.2692T>G | |
| 13 | g.28018514A>G | CA483042244 | FLT3 | c.2494T>C (p.Leu832=) c.*406T>C (n.*406T>C) n.2708T>C c.2437T>C (p.Leu813=) c.1969T>C (p.Leu657=) c.2278T>C (p.Leu760=) c.1615T>C (p.Leu539=) c.1597T>C (p.Leu533=) n.2692T>C | |
| 13 | g.28018514A>T | CA387650217 | FLT3 | c.2494T>A (p.Leu832Met) c.*406T>A (n.*406T>A) n.2708T>A c.2437T>A (p.Leu813Met) c.1969T>A (p.Leu657Met) c.2278T>A (p.Leu760Met) c.1615T>A (p.Leu539Met) c.1597T>A (p.Leu533Met) n.2692T>A | dbSNP |
| 13 | g.28018515T>A | CA483042245 | FLT3 | c.2493A>T (p.Gly831=) c.*405A>T (n.*405A>T) n.2707A>T c.2436A>T (p.Gly812=) c.1968A>T (p.Gly656=) c.2277A>T (p.Gly759=) c.1614A>T (p.Gly538=) c.1596A>T (p.Gly532=) n.2691A>T | dbSNP |
| 13 | g.28018515T>C | CA483042246 | FLT3 | c.2493A>G (p.Gly831=) c.*405A>G (n.*405A>G) n.2707A>G c.2436A>G (p.Gly812=) c.1968A>G (p.Gly656=) c.2277A>G (p.Gly759=) c.1614A>G (p.Gly538=) c.1596A>G (p.Gly532=) n.2691A>G |