Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.50892227_50893227dupCA2695239789ADNPc.1488_2488dup (p.Glu830AlafsTer13)
c.202-3269_202-2269dup (n.202-3269_202-2269dup)
c.804_1804dup (p.Glu602AlafsTer13)
c.1704_2704dup (p.Glu902AlafsTer13)
c.1515_2515dup (p.Glu839AlafsTer13)
20g.50892426G>ACA408970757ADNPc.2288C>T (p.Ser763Phe)
c.202-2469C>T (n.202-2469C>T)
c.1604C>T (p.Ser535Phe)
c.2504C>T (p.Ser835Phe)
c.2315C>T (p.Ser772Phe)
20g.50892426G>CCA408970754ADNPc.2288C>G (p.Ser763Cys)
c.202-2469C>G (n.202-2469C>G)
c.1604C>G (p.Ser535Cys)
c.2504C>G (p.Ser835Cys)
c.2315C>G (p.Ser772Cys)
 gnomAD v4
20g.50892426G>TCA408970755ADNPc.2288C>A (p.Ser763Tyr)
c.202-2469C>A (n.202-2469C>A)
c.1604C>A (p.Ser535Tyr)
c.2504C>A (p.Ser835Tyr)
c.2315C>A (p.Ser772Tyr)
20g.50892426_50892427delinsGACA2368738400ADNPc.2287_2288delinsTC (p.Ser763=)
c.202-2470_202-2469delinsTC (n.202-2470_202-2469delinsTC)
c.1603_1604delinsTC (p.Ser535=)
c.2503_2504delinsTC (p.Ser835=)
c.2314_2315delinsTC (p.Ser772=)
20g.50892427A>CCA408970759ADNPc.2287T>G (p.Ser763Ala)
c.202-2470T>G (n.202-2470T>G)
c.1603T>G (p.Ser535Ala)
c.2503T>G (p.Ser835Ala)
c.2314T>G (p.Ser772Ala)
 gnomAD v4
20g.50892427A>GCA408970761ADNPc.2287T>C (p.Ser763Pro)
c.202-2470T>C (n.202-2470T>C)
c.1603T>C (p.Ser535Pro)
c.2503T>C (p.Ser835Pro)
c.2314T>C (p.Ser772Pro)
20g.50892427A>TCA408970763ADNPc.2287T>A (p.Ser763Thr)
c.202-2470T>A (n.202-2470T>A)
c.1603T>A (p.Ser535Thr)
c.2503T>A (p.Ser835Thr)
c.2314T>A (p.Ser772Thr)
20g.50892428dupCA658799377ADNPc.2287dup (p.Ser763PhefsTer3)
c.202-2470dup (n.202-2470dup)
c.1603dup (p.Ser535PhefsTer3)
c.2503dup (p.Ser835PhefsTer3)
c.2314dup (p.Ser772PhefsTer3)
 ClinVar dbSNP
20g.50892428delCA658799376ADNPc.2287del (p.Ser763ProfsTer9)
c.202-2470del (n.202-2470del)
c.1603del (p.Ser535ProfsTer9)
c.2503del (p.Ser835ProfsTer9)
c.2314del (p.Ser772ProfsTer9)
 ClinVar dbSNP
20g.50892428A>CCA408970764ADNPc.2286T>G (p.Asp762Glu)
c.202-2471T>G (n.202-2471T>G)
c.1602T>G (p.Asp534Glu)
c.2502T>G (p.Asp834Glu)
c.2313T>G (p.Asp771Glu)
20g.50892428A>GCA511020808ADNPc.2286T>C (p.Asp762=)
c.202-2471T>C (n.202-2471T>C)
c.1602T>C (p.Asp534=)
c.2502T>C (p.Asp834=)
c.2313T>C (p.Asp771=)
20g.50892428A>TCA408970766ADNPc.2286T>A (p.Asp762Glu)
c.202-2471T>A (n.202-2471T>A)
c.1602T>A (p.Asp534Glu)
c.2502T>A (p.Asp834Glu)
c.2313T>A (p.Asp771Glu)
20g.50892429T>ACA408970768ADNPc.2285A>T (p.Asp762Val)
c.202-2472A>T (n.202-2472A>T)
c.1601A>T (p.Asp534Val)
c.2501A>T (p.Asp834Val)
c.2312A>T (p.Asp771Val)
20g.50892429T>CCA408970769ADNPc.2285A>G (p.Asp762Gly)
c.202-2472A>G (n.202-2472A>G)
c.1601A>G (p.Asp534Gly)
c.2501A>G (p.Asp834Gly)
c.2312A>G (p.Asp771Gly)
20g.50892429T>GCA408970771ADNPc.2285A>C (p.Asp762Ala)
c.202-2472A>C (n.202-2472A>C)
c.1601A>C (p.Asp534Ala)
c.2501A>C (p.Asp834Ala)
c.2312A>C (p.Asp771Ala)
20g.50892430C>ACA408970774ADNPc.2284G>T (p.Asp762Tyr)
c.202-2473G>T (n.202-2473G>T)
c.1600G>T (p.Asp534Tyr)
c.2500G>T (p.Asp834Tyr)
c.2311G>T (p.Asp771Tyr)
20g.50892430C>GCA408970775ADNPc.2284G>C (p.Asp762His)
c.202-2473G>C (n.202-2473G>C)
c.1600G>C (p.Asp534His)
c.2500G>C (p.Asp834His)
c.2311G>C (p.Asp771His)
20g.50892430C>TCA408970777ADNPc.2284G>A (p.Asp762Asn)
c.202-2473G>A (n.202-2473G>A)
c.1600G>A (p.Asp534Asn)
c.2500G>A (p.Asp834Asn)
c.2311G>A (p.Asp771Asn)
 gnomAD v4
20g.50892431A=CA2368738401ADNPc.2283T= (p.Asp761=)
c.202-2474T= (n.202-2474T=)
c.1599T= (p.Asp533=)
c.2499T= (p.Asp833=)
c.2310T= (p.Asp770=)
20g.50892431A>CCA315256913ADNPc.2283T>G (p.Asp761Glu)
c.202-2474T>G (n.202-2474T>G)
c.1599T>G (p.Asp533Glu)
c.2499T>G (p.Asp833Glu)
c.2310T>G (p.Asp770Glu)
 ClinVar dbSNP gnomAD v4
20g.50892431A>GCA315256920ADNPc.2283T>C (p.Asp761=)
c.202-2474T>C (n.202-2474T>C)
c.1599T>C (p.Asp533=)
c.2499T>C (p.Asp833=)
c.2310T>C (p.Asp770=)
 dbSNP
20g.50892431A>TCA408970779ADNPc.2283T>A (p.Asp761Glu)
c.202-2474T>A (n.202-2474T>A)
c.1599T>A (p.Asp533Glu)
c.2499T>A (p.Asp833Glu)
c.2310T>A (p.Asp770Glu)
20g.50892432T>ACA408970782ADNPc.2282A>T (p.Asp761Val)
c.202-2475A>T (n.202-2475A>T)
c.1598A>T (p.Asp533Val)
c.2498A>T (p.Asp833Val)
c.2309A>T (p.Asp770Val)
20g.50892432T>CCA408970784ADNPc.2282A>G (p.Asp761Gly)
c.202-2475A>G (n.202-2475A>G)
c.1598A>G (p.Asp533Gly)
c.2498A>G (p.Asp833Gly)
c.2309A>G (p.Asp770Gly)
20g.50892432T>GCA408970786ADNPc.2282A>C (p.Asp761Ala)
c.202-2475A>C (n.202-2475A>C)
c.1598A>C (p.Asp533Ala)
c.2498A>C (p.Asp833Ala)
c.2309A>C (p.Asp770Ala)
20g.50892433C>ACA408970787ADNPc.2281G>T (p.Asp761Tyr)
c.202-2476G>T (n.202-2476G>T)
c.1597G>T (p.Asp533Tyr)
c.2497G>T (p.Asp833Tyr)
c.2308G>T (p.Asp770Tyr)
20g.50892433C>GCA408970788ADNPc.2281G>C (p.Asp761His)
c.202-2476G>C (n.202-2476G>C)
c.1597G>C (p.Asp533His)
c.2497G>C (p.Asp833His)
c.2308G>C (p.Asp770His)
 gnomAD v4
20g.50892433C>TCA408970790ADNPc.2281G>A (p.Asp761Asn)
c.202-2476G>A (n.202-2476G>A)
c.1597G>A (p.Asp533Asn)
c.2497G>A (p.Asp833Asn)
c.2308G>A (p.Asp770Asn)
20g.50892434T>ACA408970792ADNPc.2280A>T (p.Glu760Asp)
c.202-2477A>T (n.202-2477A>T)
c.1596A>T (p.Glu532Asp)
c.2496A>T (p.Glu832Asp)
c.2307A>T (p.Glu769Asp)
20g.50892434T>CCA9908608ADNPc.2280A>G (p.Glu760=)
c.202-2477A>G (n.202-2477A>G)
c.1596A>G (p.Glu532=)
c.2496A>G (p.Glu832=)
c.2307A>G (p.Glu769=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892434T>GCA408970794ADNPc.2280A>C (p.Glu760Asp)
c.202-2477A>C (n.202-2477A>C)
c.1596A>C (p.Glu532Asp)
c.2496A>C (p.Glu832Asp)
c.2307A>C (p.Glu769Asp)
20g.50892434T=CA2368738402ADNPc.2280A= (p.Glu760=)
c.202-2477A= (n.202-2477A=)
c.1596A= (p.Glu532=)
c.2496A= (p.Glu832=)
c.2307A= (p.Glu769=)
20g.50892435T>ACA408970796ADNPc.2279A>T (p.Glu760Val)
c.202-2478A>T (n.202-2478A>T)
c.1595A>T (p.Glu532Val)
c.2495A>T (p.Glu832Val)
c.2306A>T (p.Glu769Val)
20g.50892435T>CCA408970798ADNPc.2279A>G (p.Glu760Gly)
c.202-2478A>G (n.202-2478A>G)
c.1595A>G (p.Glu532Gly)
c.2495A>G (p.Glu832Gly)
c.2306A>G (p.Glu769Gly)
20g.50892435T>GCA408970800ADNPc.2279A>C (p.Glu760Ala)
c.202-2478A>C (n.202-2478A>C)
c.1595A>C (p.Glu532Ala)
c.2495A>C (p.Glu832Ala)
c.2306A>C (p.Glu769Ala)
20g.50892436C>ACA408970802ADNPc.2278G>T (p.Glu760Ter)
c.202-2479G>T (n.202-2479G>T)
c.1594G>T (p.Glu532Ter)
c.2494G>T (p.Glu832Ter)
c.2305G>T (p.Glu769Ter)
 ClinVar dbSNP
20g.50892436C=CA2368738403ADNPc.2278G= (p.Glu760=)
c.202-2479G= (n.202-2479G=)
c.1594G= (p.Glu532=)
c.2494G= (p.Glu832=)
c.2305G= (p.Glu769=)
20g.50892436C>GCA408970803ADNPc.2278G>C (p.Glu760Gln)
c.202-2479G>C (n.202-2479G>C)
c.1594G>C (p.Glu532Gln)
c.2494G>C (p.Glu832Gln)
c.2305G>C (p.Glu769Gln)
20g.50892436C>TCA408970801ADNPc.2278G>A (p.Glu760Lys)
c.202-2479G>A (n.202-2479G>A)
c.1594G>A (p.Glu532Lys)
c.2494G>A (p.Glu832Lys)
c.2305G>A (p.Glu769Lys)
 dbSNP
20g.50892437A=CA2368738404ADNPc.2277T= (p.His759=)
c.202-2480T= (n.202-2480T=)
c.1593T= (p.His531=)
c.2493T= (p.His831=)
c.2304T= (p.His768=)
20g.50892437A>CCA408970804ADNPc.2277T>G (p.His759Gln)
c.202-2480T>G (n.202-2480T>G)
c.1593T>G (p.His531Gln)
c.2493T>G (p.His831Gln)
c.2304T>G (p.His768Gln)
20g.50892437A>GCA9908609ADNPc.2277T>C (p.His759=)
c.202-2480T>C (n.202-2480T>C)
c.1593T>C (p.His531=)
c.2493T>C (p.His831=)
c.2304T>C (p.His768=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892437A>TCA408970805ADNPc.2277T>A (p.His759Gln)
c.202-2480T>A (n.202-2480T>A)
c.1593T>A (p.His531Gln)
c.2493T>A (p.His831Gln)
c.2304T>A (p.His768Gln)
20g.50892438T>ACA408970806ADNPc.2276A>T (p.His759Leu)
c.202-2481A>T (n.202-2481A>T)
c.1592A>T (p.His531Leu)
c.2492A>T (p.His831Leu)
c.2303A>T (p.His768Leu)
20g.50892438T>CCA9908610ADNPc.2276A>G (p.His759Arg)
c.202-2481A>G (n.202-2481A>G)
c.1592A>G (p.His531Arg)
c.2492A>G (p.His831Arg)
c.2303A>G (p.His768Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892438T>GCA408970808ADNPc.2276A>C (p.His759Pro)
c.202-2481A>C (n.202-2481A>C)
c.1592A>C (p.His531Pro)
c.2492A>C (p.His831Pro)
c.2303A>C (p.His768Pro)
20g.50892438T=CA2368738405ADNPc.2276A= (p.His759=)
c.202-2481A= (n.202-2481A=)
c.1592A= (p.His531=)
c.2492A= (p.His831=)
c.2303A= (p.His768=)
20g.50892439G>ACA408970811ADNPc.2275C>T (p.His759Tyr)
c.202-2482C>T (n.202-2482C>T)
c.1591C>T (p.His531Tyr)
c.2491C>T (p.His831Tyr)
c.2302C>T (p.His768Tyr)
20g.50892439G>CCA408970814ADNPc.2275C>G (p.His759Asp)
c.202-2482C>G (n.202-2482C>G)
c.1591C>G (p.His531Asp)
c.2491C>G (p.His831Asp)
c.2302C>G (p.His768Asp)
20g.50892439G>TCA408970812ADNPc.2275C>A (p.His759Asn)
c.202-2482C>A (n.202-2482C>A)
c.1591C>A (p.His531Asn)
c.2491C>A (p.His831Asn)
c.2302C>A (p.His768Asn)
 COSMIC
20g.50892439_50892464delinsGACCCTTGGGGTCTAAAGCTAAAACACA2368738406ADNPc.2250_2275delinsTGTTTTAGCTTTAGACCCCAAGGGTC (p.Val750=)
c.202-2507_202-2482delinsTGTTTTAGCTTTAGACCCCAAGGGTC (n.202-2507_202-2482delinsTGTTTTAGCTTTAGACCCCAAGGGTC)
c.1566_1591delinsTGTTTTAGCTTTAGACCCCAAGGGTC (p.Val522=)
c.2466_2491delinsTGTTTTAGCTTTAGACCCCAAGGGTC (p.Val822=)
c.2277_2302delinsTGTTTTAGCTTTAGACCCCAAGGGTC (p.Val759=)
20g.50892440A>CCA511020852ADNPc.2274T>G (p.Gly758=)
c.202-2483T>G (n.202-2483T>G)
c.1590T>G (p.Gly530=)
c.2490T>G (p.Gly830=)
c.2301T>G (p.Gly767=)
20g.50892440A>GCA511020861ADNPc.2274T>C (p.Gly758=)
c.202-2483T>C (n.202-2483T>C)
c.1590T>C (p.Gly530=)
c.2490T>C (p.Gly830=)
c.2301T>C (p.Gly767=)
20g.50892440A>TCA511020855ADNPc.2274T>A (p.Gly758=)
c.202-2483T>A (n.202-2483T>A)
c.1590T>A (p.Gly530=)
c.2490T>A (p.Gly830=)
c.2301T>A (p.Gly767=)
20g.50892442_50892466delCA2368738407ADNPc.2250_2274del (p.Val751MetfsTer13)
c.202-2507_202-2483del (n.202-2507_202-2483del)
c.1566_1590del (p.Val523MetfsTer13)
c.2466_2490del (p.Val823MetfsTer13)
c.2277_2301del (p.Val760MetfsTer13)
 ClinVar dbSNP
20g.50892441C>ACA408970815ADNPc.2273G>T (p.Gly758Val)
c.202-2484G>T (n.202-2484G>T)
c.1589G>T (p.Gly530Val)
c.2489G>T (p.Gly830Val)
c.2300G>T (p.Gly767Val)
 ClinVar gnomAD v4
20g.50892441C>GCA408970817ADNPc.2273G>C (p.Gly758Ala)
c.202-2484G>C (n.202-2484G>C)
c.1589G>C (p.Gly530Ala)
c.2489G>C (p.Gly830Ala)
c.2300G>C (p.Gly767Ala)
20g.50892441C>TCA408970816ADNPc.2273G>A (p.Gly758Asp)
c.202-2484G>A (n.202-2484G>A)
c.1589G>A (p.Gly530Asp)
c.2489G>A (p.Gly830Asp)
c.2300G>A (p.Gly767Asp)
20g.50892442C>ACA408970818ADNPc.2272G>T (p.Gly758Cys)
c.202-2485G>T (n.202-2485G>T)
c.1588G>T (p.Gly530Cys)
c.2488G>T (p.Gly830Cys)
c.2299G>T (p.Gly767Cys)
20g.50892442C>GCA408970821ADNPc.2272G>C (p.Gly758Arg)
c.202-2485G>C (n.202-2485G>C)
c.1588G>C (p.Gly530Arg)
c.2488G>C (p.Gly830Arg)
c.2299G>C (p.Gly767Arg)
 gnomAD v4
20g.50892442C>TCA408970823ADNPc.2272G>A (p.Gly758Ser)
c.202-2485G>A (n.202-2485G>A)
c.1588G>A (p.Gly530Ser)
c.2488G>A (p.Gly830Ser)
c.2299G>A (p.Gly767Ser)
20g.50892443C>ACA408970825ADNPc.2271G>T (p.Lys757Asn)
c.202-2486G>T (n.202-2486G>T)
c.1587G>T (p.Lys529Asn)
c.2487G>T (p.Lys829Asn)
c.2298G>T (p.Lys766Asn)
20g.50892443C=CA2368738408ADNPc.2271G= (p.Lys757=)
c.202-2486G= (n.202-2486G=)
c.1587G= (p.Lys529=)
c.2487G= (p.Lys829=)
c.2298G= (p.Lys766=)
20g.50892443C>GCA408970827ADNPc.2271G>C (p.Lys757Asn)
c.202-2486G>C (n.202-2486G>C)
c.1587G>C (p.Lys529Asn)
c.2487G>C (p.Lys829Asn)
c.2298G>C (p.Lys766Asn)
 ClinVar
20g.50892443C>TCA511020879ADNPc.2271G>A (p.Lys757=)
c.202-2486G>A (n.202-2486G>A)
c.1587G>A (p.Lys529=)
c.2487G>A (p.Lys829=)
c.2298G>A (p.Lys766=)
 dbSNP gnomAD v3 gnomAD v4
20g.50892444T>ACA408970829ADNPc.2270A>T (p.Lys757Met)
c.202-2487A>T (n.202-2487A>T)
c.1586A>T (p.Lys529Met)
c.2486A>T (p.Lys829Met)
c.2297A>T (p.Lys766Met)
20g.50892444T>CCA315256925ADNPc.2270A>G (p.Lys757Arg)
c.202-2487A>G (n.202-2487A>G)
c.1586A>G (p.Lys529Arg)
c.2486A>G (p.Lys829Arg)
c.2297A>G (p.Lys766Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.50892444T>GCA408970831ADNPc.2270A>C (p.Lys757Thr)
c.202-2487A>C (n.202-2487A>C)
c.1586A>C (p.Lys529Thr)
c.2486A>C (p.Lys829Thr)
c.2297A>C (p.Lys766Thr)
 gnomAD v4
20g.50892444T=CA2368738409ADNPc.2270A= (p.Lys757=)
c.202-2487A= (n.202-2487A=)
c.1586A= (p.Lys529=)
c.2486A= (p.Lys829=)
c.2297A= (p.Lys766=)
20g.50892445T>ACA408970833ADNPc.2269A>T (p.Lys757Ter)
c.202-2488A>T (n.202-2488A>T)
c.1585A>T (p.Lys529Ter)
c.2485A>T (p.Lys829Ter)
c.2296A>T (p.Lys766Ter)
20g.50892445T>CCA408970834ADNPc.2269A>G (p.Lys757Glu)
c.202-2488A>G (n.202-2488A>G)
c.1585A>G (p.Lys529Glu)
c.2485A>G (p.Lys829Glu)
c.2296A>G (p.Lys766Glu)
 dbSNP gnomAD v2
20g.50892445T>GCA408970836ADNPc.2269A>C (p.Lys757Gln)
c.202-2488A>C (n.202-2488A>C)
c.1585A>C (p.Lys529Gln)
c.2485A>C (p.Lys829Gln)
c.2296A>C (p.Lys766Gln)
20g.50892445T=CA2368738410ADNPc.2269A= (p.Lys757=)
c.202-2488A= (n.202-2488A=)
c.1585A= (p.Lys529=)
c.2485A= (p.Lys829=)
c.2296A= (p.Lys766=)
20g.50892445_50892446insACA2695229854ADNPc.2268_2269insT (p.Lys757Ter)
c.202-2489_202-2488insT (n.202-2489_202-2488insT)
c.1584_1585insT (p.Lys529Ter)
c.2484_2485insT (p.Lys829Ter)
c.2295_2296insT (p.Lys766Ter)
20g.50892446G>ACA511020883ADNPc.2268C>T (p.Pro756=)
c.202-2489C>T (n.202-2489C>T)
c.1584C>T (p.Pro528=)
c.2484C>T (p.Pro828=)
c.2295C>T (p.Pro765=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.50892446G>CCA511020885ADNPc.2268C>G (p.Pro756=)
c.202-2489C>G (n.202-2489C>G)
c.1584C>G (p.Pro528=)
c.2484C>G (p.Pro828=)
c.2295C>G (p.Pro765=)
20g.50892446G=CA2368738411ADNPc.2268C= (p.Pro756=)
c.202-2489C= (n.202-2489C=)
c.1584C= (p.Pro528=)
c.2484C= (p.Pro828=)
c.2295C= (p.Pro765=)
20g.50892446G>TCA511020884ADNPc.2268C>A (p.Pro756=)
c.202-2489C>A (n.202-2489C>A)
c.1584C>A (p.Pro528=)
c.2484C>A (p.Pro828=)
c.2295C>A (p.Pro765=)
 gnomAD v4
20g.50892449dupCA10603668ADNPc.2268dup (p.Lys757GlnfsTer4)
c.202-2489dup (n.202-2489dup)
c.1584dup (p.Lys529GlnfsTer4)
c.2484dup (p.Lys829GlnfsTer4)
c.2295dup (p.Lys766GlnfsTer4)
 ClinVar dbSNP
20g.50892447G>ACA408970837ADNPc.2267C>T (p.Pro756Leu)
c.202-2490C>T (n.202-2490C>T)
c.1583C>T (p.Pro528Leu)
c.2483C>T (p.Pro828Leu)
c.2294C>T (p.Pro765Leu)
20g.50892447G>CCA408970839ADNPc.2267C>G (p.Pro756Arg)
c.202-2490C>G (n.202-2490C>G)
c.1583C>G (p.Pro528Arg)
c.2483C>G (p.Pro828Arg)
c.2294C>G (p.Pro765Arg)
20g.50892447G>TCA408970838ADNPc.2267C>A (p.Pro756His)
c.202-2490C>A (n.202-2490C>A)
c.1583C>A (p.Pro528His)
c.2483C>A (p.Pro828His)
c.2294C>A (p.Pro765His)
20g.50892448G>ACA408970840ADNPc.2266C>T (p.Pro756Ser)
c.202-2491C>T (n.202-2491C>T)
c.1582C>T (p.Pro528Ser)
c.2482C>T (p.Pro828Ser)
c.2293C>T (p.Pro765Ser)
20g.50892448G>CCA408970841ADNPc.2266C>G (p.Pro756Ala)
c.202-2491C>G (n.202-2491C>G)
c.1582C>G (p.Pro528Ala)
c.2482C>G (p.Pro828Ala)
c.2293C>G (p.Pro765Ala)
20g.50892448G>TCA408970842ADNPc.2266C>A (p.Pro756Thr)
c.202-2491C>A (n.202-2491C>A)
c.1582C>A (p.Pro528Thr)
c.2482C>A (p.Pro828Thr)
c.2293C>A (p.Pro765Thr)
20g.50892449G>ACA511021109ADNPc.2265C>T (p.Asp755=)
c.202-2492C>T (n.202-2492C>T)
c.1581C>T (p.Asp527=)
c.2481C>T (p.Asp827=)
c.2292C>T (p.Asp764=)
 ClinVar dbSNP gnomAD v4
20g.50892449G>CCA408970843ADNPc.2265C>G (p.Asp755Glu)
c.202-2492C>G (n.202-2492C>G)
c.1581C>G (p.Asp527Glu)
c.2481C>G (p.Asp827Glu)
c.2292C>G (p.Asp764Glu)
20g.50892449G=CA2368738412ADNPc.2265C= (p.Asp755=)
c.202-2492C= (n.202-2492C=)
c.1581C= (p.Asp527=)
c.2481C= (p.Asp827=)
c.2292C= (p.Asp764=)
20g.50892449G>TCA408970844ADNPc.2265C>A (p.Asp755Glu)
c.202-2492C>A (n.202-2492C>A)
c.1581C>A (p.Asp527Glu)
c.2481C>A (p.Asp827Glu)
c.2292C>A (p.Asp764Glu)
20g.50892450T>ACA408970845ADNPc.2264A>T (p.Asp755Val)
c.202-2493A>T (n.202-2493A>T)
c.1580A>T (p.Asp527Val)
c.2480A>T (p.Asp827Val)
c.2291A>T (p.Asp764Val)
20g.50892450T>CCA408970846ADNPc.2264A>G (p.Asp755Gly)
c.202-2493A>G (n.202-2493A>G)
c.1580A>G (p.Asp527Gly)
c.2480A>G (p.Asp827Gly)
c.2291A>G (p.Asp764Gly)
20g.50892450T>GCA408970847ADNPc.2264A>C (p.Asp755Ala)
c.202-2493A>C (n.202-2493A>C)
c.1580A>C (p.Asp527Ala)
c.2480A>C (p.Asp827Ala)
c.2291A>C (p.Asp764Ala)
20g.50892451C>ACA408970849ADNPc.2263G>T (p.Asp755Tyr)
c.202-2494G>T (n.202-2494G>T)
c.1579G>T (p.Asp527Tyr)
c.2479G>T (p.Asp827Tyr)
c.2290G>T (p.Asp764Tyr)
20g.50892451C>GCA408970850ADNPc.2263G>C (p.Asp755His)
c.202-2494G>C (n.202-2494G>C)
c.1579G>C (p.Asp527His)
c.2479G>C (p.Asp827His)
c.2290G>C (p.Asp764His)
20g.50892451C>TCA408970848ADNPc.2263G>A (p.Asp755Asn)
c.202-2494G>A (n.202-2494G>A)
c.1579G>A (p.Asp527Asn)
c.2479G>A (p.Asp827Asn)
c.2290G>A (p.Asp764Asn)
20g.50892452T>ACA408970851ADNPc.2262A>T (p.Leu754Phe)
c.202-2495A>T (n.202-2495A>T)
c.1578A>T (p.Leu526Phe)
c.2478A>T (p.Leu826Phe)
c.2289A>T (p.Leu763Phe)
20g.50892452T>CCA511021119ADNPc.2262A>G (p.Leu754=)
c.202-2495A>G (n.202-2495A>G)
c.1578A>G (p.Leu526=)
c.2478A>G (p.Leu826=)
c.2289A>G (p.Leu763=)
20g.50892452T>GCA408970852ADNPc.2262A>C (p.Leu754Phe)
c.202-2495A>C (n.202-2495A>C)
c.1578A>C (p.Leu526Phe)
c.2478A>C (p.Leu826Phe)
c.2289A>C (p.Leu763Phe)
20g.50892453A>CCA408970853ADNPc.2261T>G (p.Leu754Ter)
c.202-2496T>G (n.202-2496T>G)
c.1577T>G (p.Leu526Ter)
c.2477T>G (p.Leu826Ter)
c.2288T>G (p.Leu763Ter)
20g.50892453A>GCA408970854ADNPc.2261T>C (p.Leu754Ser)
c.202-2496T>C (n.202-2496T>C)
c.1577T>C (p.Leu526Ser)
c.2477T>C (p.Leu826Ser)
c.2288T>C (p.Leu763Ser)
20g.50892453A>TCA408970855ADNPc.2261T>A (p.Leu754Ter)
c.202-2496T>A (n.202-2496T>A)
c.1577T>A (p.Leu526Ter)
c.2477T>A (p.Leu826Ter)
c.2288T>A (p.Leu763Ter)
20g.50892454A>CCA408970856ADNPc.2260T>G (p.Leu754Val)
c.202-2497T>G (n.202-2497T>G)
c.1576T>G (p.Leu526Val)
c.2476T>G (p.Leu826Val)
c.2287T>G (p.Leu763Val)
20g.50892454A>GCA511021123ADNPc.2260T>C (p.Leu754=)
c.202-2497T>C (n.202-2497T>C)
c.1576T>C (p.Leu526=)
c.2476T>C (p.Leu826=)
c.2287T>C (p.Leu763=)
20g.50892454A>TCA408970857ADNPc.2260T>A (p.Leu754Ile)
c.202-2497T>A (n.202-2497T>A)
c.1576T>A (p.Leu526Ile)
c.2476T>A (p.Leu826Ile)
c.2287T>A (p.Leu763Ile)
20g.50892455A>CCA511021132ADNPc.2259T>G (p.Ala753=)
c.202-2498T>G (n.202-2498T>G)
c.1575T>G (p.Ala525=)
c.2475T>G (p.Ala825=)
c.2286T>G (p.Ala762=)
20g.50892455A>GCA511021126ADNPc.2259T>C (p.Ala753=)
c.202-2498T>C (n.202-2498T>C)
c.1575T>C (p.Ala525=)
c.2475T>C (p.Ala825=)
c.2286T>C (p.Ala762=)
20g.50892455A>TCA511021131ADNPc.2259T>A (p.Ala753=)
c.202-2498T>A (n.202-2498T>A)
c.1575T>A (p.Ala525=)
c.2475T>A (p.Ala825=)
c.2286T>A (p.Ala762=)
20g.50892456G>ACA408970858ADNPc.2258C>T (p.Ala753Val)
c.202-2499C>T (n.202-2499C>T)
c.1574C>T (p.Ala525Val)
c.2474C>T (p.Ala825Val)
c.2285C>T (p.Ala762Val)
 gnomAD v4
20g.50892456G>CCA408970859ADNPc.2258C>G (p.Ala753Gly)
c.202-2499C>G (n.202-2499C>G)
c.1574C>G (p.Ala525Gly)
c.2474C>G (p.Ala825Gly)
c.2285C>G (p.Ala762Gly)
 gnomAD v4
20g.50892456G>TCA408970860ADNPc.2258C>A (p.Ala753Asp)
c.202-2499C>A (n.202-2499C>A)
c.1574C>A (p.Ala525Asp)
c.2474C>A (p.Ala825Asp)
c.2285C>A (p.Ala762Asp)
20g.50892457C>ACA408970861ADNPc.2257G>T (p.Ala753Ser)
c.202-2500G>T (n.202-2500G>T)
c.1573G>T (p.Ala525Ser)
c.2473G>T (p.Ala825Ser)
c.2284G>T (p.Ala762Ser)
20g.50892457C>GCA408970862ADNPc.2257G>C (p.Ala753Pro)
c.202-2500G>C (n.202-2500G>C)
c.1573G>C (p.Ala525Pro)
c.2473G>C (p.Ala825Pro)
c.2284G>C (p.Ala762Pro)
20g.50892457C>TCA408970863ADNPc.2257G>A (p.Ala753Thr)
c.202-2500G>A (n.202-2500G>A)
c.1573G>A (p.Ala525Thr)
c.2473G>A (p.Ala825Thr)
c.2284G>A (p.Ala762Thr)
20g.50892458T>ACA408970864ADNPc.2256A>T (p.Leu752Phe)
c.202-2501A>T (n.202-2501A>T)
c.1572A>T (p.Leu524Phe)
c.2472A>T (p.Leu824Phe)
c.2283A>T (p.Leu761Phe)
 dbSNP gnomAD v3 gnomAD v4
20g.50892458T>CCA511021146ADNPc.2256A>G (p.Leu752=)
c.202-2501A>G (n.202-2501A>G)
c.1572A>G (p.Leu524=)
c.2472A>G (p.Leu824=)
c.2283A>G (p.Leu761=)
20g.50892458T>GCA408970865ADNPc.2256A>C (p.Leu752Phe)
c.202-2501A>C (n.202-2501A>C)
c.1572A>C (p.Leu524Phe)
c.2472A>C (p.Leu824Phe)
c.2283A>C (p.Leu761Phe)
20g.50892458T=CA2368738413ADNPc.2256A= (p.Leu752=)
c.202-2501A= (n.202-2501A=)
c.1572A= (p.Leu524=)
c.2472A= (p.Leu824=)
c.2283A= (p.Leu761=)
20g.50892459A>CCA408970866ADNPc.2255T>G (p.Leu752Ter)
c.202-2502T>G (n.202-2502T>G)
c.1571T>G (p.Leu524Ter)
c.2471T>G (p.Leu824Ter)
c.2282T>G (p.Leu761Ter)
20g.50892459A>GCA408970867ADNPc.2255T>C (p.Leu752Ser)
c.202-2502T>C (n.202-2502T>C)
c.1571T>C (p.Leu524Ser)
c.2471T>C (p.Leu824Ser)
c.2282T>C (p.Leu761Ser)
 ClinVar
20g.50892459A>TCA408970868ADNPc.2255T>A (p.Leu752Ter)
c.202-2502T>A (n.202-2502T>A)
c.1571T>A (p.Leu524Ter)
c.2471T>A (p.Leu824Ter)
c.2282T>A (p.Leu761Ter)
20g.50892460A=CA2368738415ADNPc.2254T= (p.Leu752=)
c.202-2503T= (n.202-2503T=)
c.1570T= (p.Leu524=)
c.2470T= (p.Leu824=)
c.2281T= (p.Leu761=)
20g.50892460A>CCA408970869ADNPc.2254T>G (p.Leu752Val)
c.202-2503T>G (n.202-2503T>G)
c.1570T>G (p.Leu524Val)
c.2470T>G (p.Leu824Val)
c.2281T>G (p.Leu761Val)
 gnomAD v4
20g.50892460A>GCA511021154ADNPc.2254T>C (p.Leu752=)
c.202-2503T>C (n.202-2503T>C)
c.1570T>C (p.Leu524=)
c.2470T>C (p.Leu824=)
c.2281T>C (p.Leu761=)
 dbSNP gnomAD v4
20g.50892460A>TCA408970870ADNPc.2254T>A (p.Leu752Ile)
c.202-2503T>A (n.202-2503T>A)
c.1570T>A (p.Leu524Ile)
c.2470T>A (p.Leu824Ile)
c.2281T>A (p.Leu761Ile)
20g.50892460_50892463delinsAAACCA2368738414ADNPc.2251_2254delinsGTTT (p.Val751=)
c.202-2506_202-2503delinsGTTT (n.202-2506_202-2503delinsGTTT)
c.1567_1570delinsGTTT (p.Val523=)
c.2467_2470delinsGTTT (p.Val823=)
c.2278_2281delinsGTTT (p.Val760=)
20g.50892461A>CCA511021156ADNPc.2253T>G (p.Val751=)
c.202-2504T>G (n.202-2504T>G)
c.1569T>G (p.Val523=)
c.2469T>G (p.Val823=)
c.2280T>G (p.Val760=)
20g.50892461A>GCA511021157ADNPc.2253T>C (p.Val751=)
c.202-2504T>C (n.202-2504T>C)
c.1569T>C (p.Val523=)
c.2469T>C (p.Val823=)
c.2280T>C (p.Val760=)
20g.50892461A>TCA511021160ADNPc.2253T>A (p.Val751=)
c.202-2504T>A (n.202-2504T>A)
c.1569T>A (p.Val523=)
c.2469T>A (p.Val823=)
c.2280T>A (p.Val760=)
20g.50892465_50892467delCA9908611ADNPc.2251_2253del (p.Val751del)
c.202-2506_202-2504del (n.202-2506_202-2504del)
c.1567_1569del (p.Val523del)
c.2467_2469del (p.Val823del)
c.2278_2280del (p.Val760del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.50892462A=CA2368738416ADNPc.2252T= (p.Val751=)
c.202-2505T= (n.202-2505T=)
c.1568T= (p.Val523=)
c.2468T= (p.Val823=)
c.2279T= (p.Val760=)
20g.50892462A>CCA9908612ADNPc.2252T>G (p.Val751Gly)
c.202-2505T>G (n.202-2505T>G)
c.1568T>G (p.Val523Gly)
c.2468T>G (p.Val823Gly)
c.2279T>G (p.Val760Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892462A>GCA408970871ADNPc.2252T>C (p.Val751Ala)
c.202-2505T>C (n.202-2505T>C)
c.1568T>C (p.Val523Ala)
c.2468T>C (p.Val823Ala)
c.2279T>C (p.Val760Ala)
20g.50892462A>TCA408970872ADNPc.2252T>A (p.Val751Asp)
c.202-2505T>A (n.202-2505T>A)
c.1568T>A (p.Val523Asp)
c.2468T>A (p.Val823Asp)
c.2279T>A (p.Val760Asp)
20g.50892463C>ACA408970873ADNPc.2251G>T (p.Val751Phe)
c.202-2506G>T (n.202-2506G>T)
c.1567G>T (p.Val523Phe)
c.2467G>T (p.Val823Phe)
c.2278G>T (p.Val760Phe)
20g.50892463C=CA2368738417ADNPc.2251G= (p.Val751=)
c.202-2506G= (n.202-2506G=)
c.1567G= (p.Val523=)
c.2467G= (p.Val823=)
c.2278G= (p.Val760=)
20g.50892463C>GCA408970874ADNPc.2251G>C (p.Val751Leu)
c.202-2506G>C (n.202-2506G>C)
c.1567G>C (p.Val523Leu)
c.2467G>C (p.Val823Leu)
c.2278G>C (p.Val760Leu)
20g.50892463C>TCA408970875ADNPc.2251G>A (p.Val751Ile)
c.202-2506G>A (n.202-2506G>A)
c.1567G>A (p.Val523Ile)
c.2467G>A (p.Val823Ile)
c.2278G>A (p.Val760Ile)
 dbSNP gnomAD v3 gnomAD v4
20g.50892463delinsTTTACA2695229855ADNPc.2251delinsTAAA (p.Val751Ter)
c.202-2506delinsTAAA (n.202-2506delinsTAAA)
c.1567delinsTAAA (p.Val523Ter)
c.2467delinsTAAA (p.Val823Ter)
c.2278delinsTAAA (p.Val760Ter)
20g.50892464A=CA2368738418ADNPc.2250T= (p.Val750=)
c.202-2507T= (n.202-2507T=)
c.1566T= (p.Val522=)
c.2466T= (p.Val822=)
c.2277T= (p.Val759=)
20g.50892464A>CCA511021168ADNPc.2250T>G (p.Val750=)
c.202-2507T>G (n.202-2507T>G)
c.1566T>G (p.Val522=)
c.2466T>G (p.Val822=)
c.2277T>G (p.Val759=)
 dbSNP gnomAD v3 gnomAD v4
20g.50892464A>GCA511021170ADNPc.2250T>C (p.Val750=)
c.202-2507T>C (n.202-2507T>C)
c.1566T>C (p.Val522=)
c.2466T>C (p.Val822=)
c.2277T>C (p.Val759=)
20g.50892464A>TCA511021171ADNPc.2250T>A (p.Val750=)
c.202-2507T>A (n.202-2507T>A)
c.1566T>A (p.Val522=)
c.2466T>A (p.Val822=)
c.2277T>A (p.Val759=)
20g.50892465A>CCA408970877ADNPc.2249T>G (p.Val750Gly)
c.202-2508T>G (n.202-2508T>G)
c.1565T>G (p.Val522Gly)
c.2465T>G (p.Val822Gly)
c.2276T>G (p.Val759Gly)
20g.50892465A>GCA408970878ADNPc.2249T>C (p.Val750Ala)
c.202-2508T>C (n.202-2508T>C)
c.1565T>C (p.Val522Ala)
c.2465T>C (p.Val822Ala)
c.2276T>C (p.Val759Ala)
 gnomAD v4
20g.50892465A>TCA408970876ADNPc.2249T>A (p.Val750Asp)
c.202-2508T>A (n.202-2508T>A)
c.1565T>A (p.Val522Asp)
c.2465T>A (p.Val822Asp)
c.2276T>A (p.Val759Asp)
20g.50892466C>ACA408970880ADNPc.2248G>T (p.Val750Phe)
c.202-2509G>T (n.202-2509G>T)
c.1564G>T (p.Val522Phe)
c.2464G>T (p.Val822Phe)
c.2275G>T (p.Val759Phe)
20g.50892466C=CA2368738419ADNPc.2248G= (p.Val750=)
c.202-2509G= (n.202-2509G=)
c.1564G= (p.Val522=)
c.2464G= (p.Val822=)
c.2275G= (p.Val759=)
20g.50892466C>GCA408970879ADNPc.2248G>C (p.Val750Leu)
c.202-2509G>C (n.202-2509G>C)
c.1564G>C (p.Val522Leu)
c.2464G>C (p.Val822Leu)
c.2275G>C (p.Val759Leu)
 gnomAD v4
20g.50892466C>TCA315256931ADNPc.2248G>A (p.Val750Ile)
c.202-2509G>A (n.202-2509G>A)
c.1564G>A (p.Val522Ile)
c.2464G>A (p.Val822Ile)
c.2275G>A (p.Val759Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.50892467A>CCA511021178ADNPc.2247T>G (p.Pro749=)
c.202-2510T>G (n.202-2510T>G)
c.1563T>G (p.Pro521=)
c.2463T>G (p.Pro821=)
c.2274T>G (p.Pro758=)
 gnomAD v4
20g.50892467A>GCA511021179ADNPc.2247T>C (p.Pro749=)
c.202-2510T>C (n.202-2510T>C)
c.1563T>C (p.Pro521=)
c.2463T>C (p.Pro821=)
c.2274T>C (p.Pro758=)
20g.50892467A>TCA511021181ADNPc.2247T>A (p.Pro749=)
c.202-2510T>A (n.202-2510T>A)
c.1563T>A (p.Pro521=)
c.2463T>A (p.Pro821=)
c.2274T>A (p.Pro758=)
20g.50892468G>ACA9908613ADNPc.2246C>T (p.Pro749Leu)
c.202-2511C>T (n.202-2511C>T)
c.1562C>T (p.Pro521Leu)
c.2462C>T (p.Pro821Leu)
c.2273C>T (p.Pro758Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892468G>CCA315256936ADNPc.2246C>G (p.Pro749Arg)
c.202-2511C>G (n.202-2511C>G)
c.1562C>G (p.Pro521Arg)
c.2462C>G (p.Pro821Arg)
c.2273C>G (p.Pro758Arg)
 ClinVar dbSNP gnomAD v4
20g.50892468G=CA2368738420ADNPc.2246C= (p.Pro749=)
c.202-2511C= (n.202-2511C=)
c.1562C= (p.Pro521=)
c.2462C= (p.Pro821=)
c.2273C= (p.Pro758=)
20g.50892468G>TCA408970881ADNPc.2246C>A (p.Pro749His)
c.202-2511C>A (n.202-2511C>A)
c.1562C>A (p.Pro521His)
c.2462C>A (p.Pro821His)
c.2273C>A (p.Pro758His)
20g.50892469G>ACA408970882ADNPc.2245C>T (p.Pro749Ser)
c.202-2512C>T (n.202-2512C>T)
c.1561C>T (p.Pro521Ser)
c.2461C>T (p.Pro821Ser)
c.2272C>T (p.Pro758Ser)
20g.50892469G>CCA408970883ADNPc.2245C>G (p.Pro749Ala)
c.202-2512C>G (n.202-2512C>G)
c.1561C>G (p.Pro521Ala)
c.2461C>G (p.Pro821Ala)
c.2272C>G (p.Pro758Ala)
 gnomAD v4
20g.50892469G>TCA408970884ADNPc.2245C>A (p.Pro749Thr)
c.202-2512C>A (n.202-2512C>A)
c.1561C>A (p.Pro521Thr)
c.2461C>A (p.Pro821Thr)
c.2272C>A (p.Pro758Thr)
20g.50892470C>ACA408970885ADNPc.2244G>T (p.Glu748Asp)
c.202-2513G>T (n.202-2513G>T)
c.1560G>T (p.Glu520Asp)
c.2460G>T (p.Glu820Asp)
c.2271G>T (p.Glu757Asp)
20g.50892470C>GCA408970886ADNPc.2244G>C (p.Glu748Asp)
c.202-2513G>C (n.202-2513G>C)
c.1560G>C (p.Glu520Asp)
c.2460G>C (p.Glu820Asp)
c.2271G>C (p.Glu757Asp)
20g.50892470C>TCA511021190ADNPc.2244G>A (p.Glu748=)
c.202-2513G>A (n.202-2513G>A)
c.1560G>A (p.Glu520=)
c.2460G>A (p.Glu820=)
c.2271G>A (p.Glu757=)
20g.50892471T>ACA408970887ADNPc.2243A>T (p.Glu748Val)
c.202-2514A>T (n.202-2514A>T)
c.1559A>T (p.Glu520Val)
c.2459A>T (p.Glu820Val)
c.2270A>T (p.Glu757Val)
20g.50892471T>CCA408970888ADNPc.2243A>G (p.Glu748Gly)
c.202-2514A>G (n.202-2514A>G)
c.1559A>G (p.Glu520Gly)
c.2459A>G (p.Glu820Gly)
c.2270A>G (p.Glu757Gly)
20g.50892471T>GCA408970889ADNPc.2243A>C (p.Glu748Ala)
c.202-2514A>C (n.202-2514A>C)
c.1559A>C (p.Glu520Ala)
c.2459A>C (p.Glu820Ala)
c.2270A>C (p.Glu757Ala)
20g.50892472C>ACA408970892ADNPc.2242G>T (p.Glu748Ter)
c.202-2515G>T (n.202-2515G>T)
c.1558G>T (p.Glu520Ter)
c.2458G>T (p.Glu820Ter)
c.2269G>T (p.Glu757Ter)
20g.50892472C>GCA408970890ADNPc.2242G>C (p.Glu748Gln)
c.202-2515G>C (n.202-2515G>C)
c.1558G>C (p.Glu520Gln)
c.2458G>C (p.Glu820Gln)
c.2269G>C (p.Glu757Gln)
20g.50892472C>TCA408970891ADNPc.2242G>A (p.Glu748Lys)
c.202-2515G>A (n.202-2515G>A)
c.1558G>A (p.Glu520Lys)
c.2458G>A (p.Glu820Lys)
c.2269G>A (p.Glu757Lys)
20g.50892473T>ACA408970893ADNPc.2241A>T (p.Glu747Asp)
c.202-2516A>T (n.202-2516A>T)
c.1557A>T (p.Glu519Asp)
c.2457A>T (p.Glu819Asp)
c.2268A>T (p.Glu756Asp)
20g.50892473T>CCA511021198ADNPc.2241A>G (p.Glu747=)
c.202-2516A>G (n.202-2516A>G)
c.1557A>G (p.Glu519=)
c.2457A>G (p.Glu819=)
c.2268A>G (p.Glu756=)
 gnomAD v4
20g.50892473T>GCA408970894ADNPc.2241A>C (p.Glu747Asp)
c.202-2516A>C (n.202-2516A>C)
c.1557A>C (p.Glu519Asp)
c.2457A>C (p.Glu819Asp)
c.2268A>C (p.Glu756Asp)
 dbSNP
20g.50892473T=CA2368738421ADNPc.2241A= (p.Glu747=)
c.202-2516A= (n.202-2516A=)
c.1557A= (p.Glu519=)
c.2457A= (p.Glu819=)
c.2268A= (p.Glu756=)
20g.50892474T>ACA408970895ADNPc.2240A>T (p.Glu747Val)
c.202-2517A>T (n.202-2517A>T)
c.1556A>T (p.Glu519Val)
c.2456A>T (p.Glu819Val)
c.2267A>T (p.Glu756Val)
20g.50892474T>CCA408970896ADNPc.2240A>G (p.Glu747Gly)
c.202-2517A>G (n.202-2517A>G)
c.1556A>G (p.Glu519Gly)
c.2456A>G (p.Glu819Gly)
c.2267A>G (p.Glu756Gly)
20g.50892474T>GCA408970897ADNPc.2240A>C (p.Glu747Ala)
c.202-2517A>C (n.202-2517A>C)
c.1556A>C (p.Glu519Ala)
c.2456A>C (p.Glu819Ala)
c.2267A>C (p.Glu756Ala)
20g.50892475C>ACA408970898ADNPc.2239G>T (p.Glu747Ter)
c.202-2518G>T (n.202-2518G>T)
c.1555G>T (p.Glu519Ter)
c.2455G>T (p.Glu819Ter)
c.2266G>T (p.Glu756Ter)
 ClinVar dbSNP
20g.50892475C=CA2368738422ADNPc.2239G= (p.Glu747=)
c.202-2518G= (n.202-2518G=)
c.1555G= (p.Glu519=)
c.2455G= (p.Glu819=)
c.2266G= (p.Glu756=)
20g.50892475C>GCA408970899ADNPc.2239G>C (p.Glu747Gln)
c.202-2518G>C (n.202-2518G>C)
c.1555G>C (p.Glu519Gln)
c.2455G>C (p.Glu819Gln)
c.2266G>C (p.Glu756Gln)
 gnomAD v4
20g.50892475C>TCA408970900ADNPc.2239G>A (p.Glu747Lys)
c.202-2518G>A (n.202-2518G>A)
c.1555G>A (p.Glu519Lys)
c.2455G>A (p.Glu819Lys)
c.2266G>A (p.Glu756Lys)
 COSMIC
20g.50892476A>CCA511021209ADNPc.2238T>G (p.Pro746=)
c.202-2519T>G (n.202-2519T>G)
c.1554T>G (p.Pro518=)
c.2454T>G (p.Pro818=)
c.2265T>G (p.Pro755=)
20g.50892476A>GCA511021211ADNPc.2238T>C (p.Pro746=)
c.202-2519T>C (n.202-2519T>C)
c.1554T>C (p.Pro518=)
c.2454T>C (p.Pro818=)
c.2265T>C (p.Pro755=)
20g.50892476A>TCA511021213ADNPc.2238T>A (p.Pro746=)
c.202-2519T>A (n.202-2519T>A)
c.1554T>A (p.Pro518=)
c.2454T>A (p.Pro818=)
c.2265T>A (p.Pro755=)
20g.50892477G>ACA315256953ADNPc.2237C>T (p.Pro746Leu)
c.202-2520C>T (n.202-2520C>T)
c.1553C>T (p.Pro518Leu)
c.2453C>T (p.Pro818Leu)
c.2264C>T (p.Pro755Leu)
 dbSNP gnomAD v4
20g.50892477G>CCA408970901ADNPc.2237C>G (p.Pro746Arg)
c.202-2520C>G (n.202-2520C>G)
c.1553C>G (p.Pro518Arg)
c.2453C>G (p.Pro818Arg)
c.2264C>G (p.Pro755Arg)
20g.50892477G=CA2368738423ADNPc.2237C= (p.Pro746=)
c.202-2520C= (n.202-2520C=)
c.1553C= (p.Pro518=)
c.2453C= (p.Pro818=)
c.2264C= (p.Pro755=)
20g.50892477G>TCA408970902ADNPc.2237C>A (p.Pro746His)
c.202-2520C>A (n.202-2520C>A)
c.1553C>A (p.Pro518His)
c.2453C>A (p.Pro818His)
c.2264C>A (p.Pro755His)
20g.50892478G>ACA408970904ADNPc.2236C>T (p.Pro746Ser)
c.202-2521C>T (n.202-2521C>T)
c.1552C>T (p.Pro518Ser)
c.2452C>T (p.Pro818Ser)
c.2263C>T (p.Pro755Ser)
 gnomAD v4
20g.50892478G>CCA9908614ADNPc.2236C>G (p.Pro746Ala)
c.202-2521C>G (n.202-2521C>G)
c.1552C>G (p.Pro518Ala)
c.2452C>G (p.Pro818Ala)
c.2263C>G (p.Pro755Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892478G=CA2368738424ADNPc.2236C= (p.Pro746=)
c.202-2521C= (n.202-2521C=)
c.1552C= (p.Pro518=)
c.2452C= (p.Pro818=)
c.2263C= (p.Pro755=)
20g.50892478G>TCA408970903ADNPc.2236C>A (p.Pro746Thr)
c.202-2521C>A (n.202-2521C>A)
c.1552C>A (p.Pro518Thr)
c.2452C>A (p.Pro818Thr)
c.2263C>A (p.Pro755Thr)
20g.50892479C>ACA408970905ADNPc.2235G>T (p.Lys745Asn)
c.202-2522G>T (n.202-2522G>T)
c.1551G>T (p.Lys517Asn)
c.2451G>T (p.Lys817Asn)
c.2262G>T (p.Lys754Asn)
20g.50892479C>GCA408970906ADNPc.2235G>C (p.Lys745Asn)
c.202-2522G>C (n.202-2522G>C)
c.1551G>C (p.Lys517Asn)
c.2451G>C (p.Lys817Asn)
c.2262G>C (p.Lys754Asn)
 COSMIC
20g.50892479C>TCA511021226ADNPc.2235G>A (p.Lys745=)
c.202-2522G>A (n.202-2522G>A)
c.1551G>A (p.Lys517=)
c.2451G>A (p.Lys817=)
c.2262G>A (p.Lys754=)
 gnomAD v4
20g.50892483_50892487delCA2739290291ADNPc.2231_2235del (p.Glu744AlafsTer2)
c.202-2526_202-2522del (n.202-2526_202-2522del)
c.1547_1551del (p.Glu516AlafsTer2)
c.2447_2451del (p.Glu816AlafsTer2)
c.2258_2262del (p.Glu753AlafsTer2)
20g.50892480T>ACA408970907ADNPc.2234A>T (p.Lys745Met)
c.202-2523A>T (n.202-2523A>T)
c.1550A>T (p.Lys517Met)
c.2450A>T (p.Lys817Met)
c.2261A>T (p.Lys754Met)
20g.50892480T>CCA408970908ADNPc.2234A>G (p.Lys745Arg)
c.202-2523A>G (n.202-2523A>G)
c.1550A>G (p.Lys517Arg)
c.2450A>G (p.Lys817Arg)
c.2261A>G (p.Lys754Arg)
20g.50892480T>GCA408970909ADNPc.2234A>C (p.Lys745Thr)
c.202-2523A>C (n.202-2523A>C)
c.1550A>C (p.Lys517Thr)
c.2450A>C (p.Lys817Thr)
c.2261A>C (p.Lys754Thr)
20g.50892481T>ACA408970910ADNPc.2233A>T (p.Lys745Ter)
c.202-2524A>T (n.202-2524A>T)
c.1549A>T (p.Lys517Ter)
c.2449A>T (p.Lys817Ter)
c.2260A>T (p.Lys754Ter)
20g.50892481T>CCA408970911ADNPc.2233A>G (p.Lys745Glu)
c.202-2524A>G (n.202-2524A>G)
c.1549A>G (p.Lys517Glu)
c.2449A>G (p.Lys817Glu)
c.2260A>G (p.Lys754Glu)
20g.50892481T>GCA408970912ADNPc.2233A>C (p.Lys745Gln)
c.202-2524A>C (n.202-2524A>C)
c.1549A>C (p.Lys517Gln)
c.2449A>C (p.Lys817Gln)
c.2260A>C (p.Lys754Gln)
20g.50892481_50892484delinsTCTCCA2368738425ADNPc.2230_2233delinsGAGA (p.Glu744=)
c.202-2527_202-2524delinsGAGA (n.202-2527_202-2524delinsGAGA)
c.1546_1549delinsGAGA (p.Glu516=)
c.2446_2449delinsGAGA (p.Glu816=)
c.2257_2260delinsGAGA (p.Glu753=)
20g.50892482C>ACA408970913ADNPc.2232G>T (p.Glu744Asp)
c.202-2525G>T (n.202-2525G>T)
c.1548G>T (p.Glu516Asp)
c.2448G>T (p.Glu816Asp)
c.2259G>T (p.Glu753Asp)
20g.50892482C>GCA408970914ADNPc.2232G>C (p.Glu744Asp)
c.202-2525G>C (n.202-2525G>C)
c.1548G>C (p.Glu516Asp)
c.2448G>C (p.Glu816Asp)
c.2259G>C (p.Glu753Asp)
20g.50892482C>TCA511021236ADNPc.2232G>A (p.Glu744=)
c.202-2525G>A (n.202-2525G>A)
c.1548G>A (p.Glu516=)
c.2448G>A (p.Glu816=)
c.2259G>A (p.Glu753=)
 gnomAD v4
20g.50892482_50892484delCA2368738426ADNPc.2230_2232del (p.Glu744del)
c.202-2527_202-2525del (n.202-2527_202-2525del)
c.1546_1548del (p.Glu516del)
c.2446_2448del (p.Glu816del)
c.2257_2259del (p.Glu753del)
 dbSNP gnomAD v4
20g.50892483delCA2695229856ADNPc.2231del (p.Glu744GlyfsTer9)
c.202-2526del (n.202-2526del)
c.1547del (p.Glu516GlyfsTer9)
c.2447del (p.Glu816GlyfsTer9)
c.2258del (p.Glu753GlyfsTer9)
20g.50892483T>ACA408970915ADNPc.2231A>T (p.Glu744Val)
c.202-2526A>T (n.202-2526A>T)
c.1547A>T (p.Glu516Val)
c.2447A>T (p.Glu816Val)
c.2258A>T (p.Glu753Val)
20g.50892483T>CCA408970916ADNPc.2231A>G (p.Glu744Gly)
c.202-2526A>G (n.202-2526A>G)
c.1547A>G (p.Glu516Gly)
c.2447A>G (p.Glu816Gly)
c.2258A>G (p.Glu753Gly)
 gnomAD v4
20g.50892483T>GCA408970917ADNPc.2231A>C (p.Glu744Ala)
c.202-2526A>C (n.202-2526A>C)
c.1547A>C (p.Glu516Ala)
c.2447A>C (p.Glu816Ala)
c.2258A>C (p.Glu753Ala)
20g.50892484C>ACA408970920ADNPc.2230G>T (p.Glu744Ter)
c.202-2527G>T (n.202-2527G>T)
c.1546G>T (p.Glu516Ter)
c.2446G>T (p.Glu816Ter)
c.2257G>T (p.Glu753Ter)
 ClinVar dbSNP
20g.50892484C=CA2368738427ADNPc.2230G= (p.Glu744=)
c.202-2527G= (n.202-2527G=)
c.1546G= (p.Glu516=)
c.2446G= (p.Glu816=)
c.2257G= (p.Glu753=)
20g.50892484C>GCA408970918ADNPc.2230G>C (p.Glu744Gln)
c.202-2527G>C (n.202-2527G>C)
c.1546G>C (p.Glu516Gln)
c.2446G>C (p.Glu816Gln)
c.2257G>C (p.Glu753Gln)
20g.50892484C>TCA408970919ADNPc.2230G>A (p.Glu744Lys)
c.202-2527G>A (n.202-2527G>A)
c.1546G>A (p.Glu516Lys)
c.2446G>A (p.Glu816Lys)
c.2257G>A (p.Glu753Lys)
 gnomAD v4
20g.50892485T>ACA408970921ADNPc.2229A>T (p.Glu743Asp)
c.202-2528A>T (n.202-2528A>T)
c.1545A>T (p.Glu515Asp)
c.2445A>T (p.Glu815Asp)
c.2256A>T (p.Glu752Asp)
20g.50892485T>CCA9908615ADNPc.2229A>G (p.Glu743=)
c.202-2528A>G (n.202-2528A>G)
c.1545A>G (p.Glu515=)
c.2445A>G (p.Glu815=)
c.2256A>G (p.Glu752=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892485T>GCA408970922ADNPc.2229A>C (p.Glu743Asp)
c.202-2528A>C (n.202-2528A>C)
c.1545A>C (p.Glu515Asp)
c.2445A>C (p.Glu815Asp)
c.2256A>C (p.Glu752Asp)
20g.50892485T=CA2368738428ADNPc.2229A= (p.Glu743=)
c.202-2528A= (n.202-2528A=)
c.1545A= (p.Glu515=)
c.2445A= (p.Glu815=)
c.2256A= (p.Glu752=)
20g.50892486T>ACA408970923ADNPc.2228A>T (p.Glu743Val)
c.202-2529A>T (n.202-2529A>T)
c.1544A>T (p.Glu515Val)
c.2444A>T (p.Glu815Val)
c.2255A>T (p.Glu752Val)
20g.50892486T>CCA408970924ADNPc.2228A>G (p.Glu743Gly)
c.202-2529A>G (n.202-2529A>G)
c.1544A>G (p.Glu515Gly)
c.2444A>G (p.Glu815Gly)
c.2255A>G (p.Glu752Gly)
20g.50892486T>GCA408970925ADNPc.2228A>C (p.Glu743Ala)
c.202-2529A>C (n.202-2529A>C)
c.1544A>C (p.Glu515Ala)
c.2444A>C (p.Glu815Ala)
c.2255A>C (p.Glu752Ala)
20g.50892487C>ACA408970926ADNPc.2227G>T (p.Glu743Ter)
c.202-2530G>T (n.202-2530G>T)
c.1543G>T (p.Glu515Ter)
c.2443G>T (p.Glu815Ter)
c.2254G>T (p.Glu752Ter)
20g.50892487C>GCA408970927ADNPc.2227G>C (p.Glu743Gln)
c.202-2530G>C (n.202-2530G>C)
c.1543G>C (p.Glu515Gln)
c.2443G>C (p.Glu815Gln)
c.2254G>C (p.Glu752Gln)
20g.50892487C>TCA408970928ADNPc.2227G>A (p.Glu743Lys)
c.202-2530G>A (n.202-2530G>A)
c.1543G>A (p.Glu515Lys)
c.2443G>A (p.Glu815Lys)
c.2254G>A (p.Glu752Lys)
 gnomAD v4
20g.50892488A=CA2368738430ADNPc.2226T= (p.Phe742=)
c.202-2531T= (n.202-2531T=)
c.1542T= (p.Phe514=)
c.2442T= (p.Phe814=)
c.2253T= (p.Phe751=)
20g.50892488A>CCA408970929ADNPc.2226T>G (p.Phe742Leu)
c.202-2531T>G (n.202-2531T>G)
c.1542T>G (p.Phe514Leu)
c.2442T>G (p.Phe814Leu)
c.2253T>G (p.Phe751Leu)
20g.50892488A>GCA9908617ADNPc.2226T>C (p.Phe742=)
c.202-2531T>C (n.202-2531T>C)
c.1542T>C (p.Phe514=)
c.2442T>C (p.Phe814=)
c.2253T>C (p.Phe751=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892488A>TCA408970930ADNPc.2226T>A (p.Phe742Leu)
c.202-2531T>A (n.202-2531T>A)
c.1542T>A (p.Phe514Leu)
c.2442T>A (p.Phe814Leu)
c.2253T>A (p.Phe751Leu)
20g.50892488_50892491delinsAAAGCA2368738429ADNPc.2223_2226delinsCTTT (p.Phe741=)
c.202-2534_202-2531delinsCTTT (n.202-2534_202-2531delinsCTTT)
c.1539_1542delinsCTTT (p.Phe513=)
c.2439_2442delinsCTTT (p.Phe813=)
c.2250_2253delinsCTTT (p.Phe750=)
20g.50892489A>CCA408970932ADNPc.2225T>G (p.Phe742Cys)
c.202-2532T>G (n.202-2532T>G)
c.1541T>G (p.Phe514Cys)
c.2441T>G (p.Phe814Cys)
c.2252T>G (p.Phe751Cys)
20g.50892489A>GCA408970931ADNPc.2225T>C (p.Phe742Ser)
c.202-2532T>C (n.202-2532T>C)
c.1541T>C (p.Phe514Ser)
c.2441T>C (p.Phe814Ser)
c.2252T>C (p.Phe751Ser)
20g.50892489A>TCA408970933ADNPc.2225T>A (p.Phe742Tyr)
c.202-2532T>A (n.202-2532T>A)
c.1541T>A (p.Phe514Tyr)
c.2441T>A (p.Phe814Tyr)
c.2252T>A (p.Phe751Tyr)
20g.50892492_50892494delCA9908616ADNPc.2223_2225del (p.Phe742del)
c.202-2534_202-2532del (n.202-2534_202-2532del)
c.1539_1541del (p.Phe514del)
c.2439_2441del (p.Phe814del)
c.2250_2252del (p.Phe751del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892490A=CA2368738431ADNPc.2224T= (p.Phe742=)
c.202-2533T= (n.202-2533T=)
c.1540T= (p.Phe514=)
c.2440T= (p.Phe814=)
c.2251T= (p.Phe751=)
20g.50892490A>CCA408970935ADNPc.2224T>G (p.Phe742Val)
c.202-2533T>G (n.202-2533T>G)
c.1540T>G (p.Phe514Val)
c.2440T>G (p.Phe814Val)
c.2251T>G (p.Phe751Val)
20g.50892490A>GCA408970934ADNPc.2224T>C (p.Phe742Leu)
c.202-2533T>C (n.202-2533T>C)
c.1540T>C (p.Phe514Leu)
c.2440T>C (p.Phe814Leu)
c.2251T>C (p.Phe751Leu)
20g.50892490A>TCA9908618ADNPc.2224T>A (p.Phe742Ile)
c.202-2533T>A (n.202-2533T>A)
c.1540T>A (p.Phe514Ile)
c.2440T>A (p.Phe814Ile)
c.2251T>A (p.Phe751Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892491G>ACA511021268ADNPc.2223C>T (p.Phe741=)
c.202-2534C>T (n.202-2534C>T)
c.1539C>T (p.Phe513=)
c.2439C>T (p.Phe813=)
c.2250C>T (p.Phe750=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.50892491G>CCA408970936ADNPc.2223C>G (p.Phe741Leu)
c.202-2534C>G (n.202-2534C>G)
c.1539C>G (p.Phe513Leu)
c.2439C>G (p.Phe813Leu)
c.2250C>G (p.Phe750Leu)
 ClinVar dbSNP
20g.50892491G=CA2368738432ADNPc.2223C= (p.Phe741=)
c.202-2534C= (n.202-2534C=)
c.1539C= (p.Phe513=)
c.2439C= (p.Phe813=)
c.2250C= (p.Phe750=)
20g.50892491G>TCA408970937ADNPc.2223C>A (p.Phe741Leu)
c.202-2534C>A (n.202-2534C>A)
c.1539C>A (p.Phe513Leu)
c.2439C>A (p.Phe813Leu)
c.2250C>A (p.Phe750Leu)
20g.50892492A=CA2368738433ADNPc.2222T= (p.Phe741=)
c.202-2535T= (n.202-2535T=)
c.1538T= (p.Phe513=)
c.2438T= (p.Phe813=)
c.2249T= (p.Phe750=)
20g.50892492A>CCA408970938ADNPc.2222T>G (p.Phe741Cys)
c.202-2535T>G (n.202-2535T>G)
c.1538T>G (p.Phe513Cys)
c.2438T>G (p.Phe813Cys)
c.2249T>G (p.Phe750Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.50892492A>GCA408970939ADNPc.2222T>C (p.Phe741Ser)
c.202-2535T>C (n.202-2535T>C)
c.1538T>C (p.Phe513Ser)
c.2438T>C (p.Phe813Ser)
c.2249T>C (p.Phe750Ser)
 dbSNP gnomAD v3 gnomAD v4
20g.50892492A>TCA408970940ADNPc.2222T>A (p.Phe741Tyr)
c.202-2535T>A (n.202-2535T>A)
c.1538T>A (p.Phe513Tyr)
c.2438T>A (p.Phe813Tyr)
c.2249T>A (p.Phe750Tyr)
20g.50892493A=CA2368738434ADNPc.2221T= (p.Phe741=)
c.202-2536T= (n.202-2536T=)
c.1537T= (p.Phe513=)
c.2437T= (p.Phe813=)
c.2248T= (p.Phe750=)
20g.50892493A>CCA9908619ADNPc.2221T>G (p.Phe741Val)
c.202-2536T>G (n.202-2536T>G)
c.1537T>G (p.Phe513Val)
c.2437T>G (p.Phe813Val)
c.2248T>G (p.Phe750Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892493A>GCA408970941ADNPc.2221T>C (p.Phe741Leu)
c.202-2536T>C (n.202-2536T>C)
c.1537T>C (p.Phe513Leu)
c.2437T>C (p.Phe813Leu)
c.2248T>C (p.Phe750Leu)
 gnomAD v4
20g.50892493A>TCA408970942ADNPc.2221T>A (p.Phe741Ile)
c.202-2536T>A (n.202-2536T>A)
c.1537T>A (p.Phe513Ile)
c.2437T>A (p.Phe813Ile)
c.2248T>A (p.Phe750Ile)
20g.50892494G>ACA511021274ADNPc.2220C>T (p.Ser740=)
c.202-2537C>T (n.202-2537C>T)
c.1536C>T (p.Ser512=)
c.2436C>T (p.Ser812=)
c.2247C>T (p.Ser749=)
 ClinVar gnomAD v4
20g.50892494G>CCA9908620ADNPc.2220C>G (p.Ser740Arg)
c.202-2537C>G (n.202-2537C>G)
c.1536C>G (p.Ser512Arg)
c.2436C>G (p.Ser812Arg)
c.2247C>G (p.Ser749Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892494G=CA2368738435ADNPc.2220C= (p.Ser740=)
c.202-2537C= (n.202-2537C=)
c.1536C= (p.Ser512=)
c.2436C= (p.Ser812=)
c.2247C= (p.Ser749=)
20g.50892494G>TCA408970943ADNPc.2220C>A (p.Ser740Arg)
c.202-2537C>A (n.202-2537C>A)
c.1536C>A (p.Ser512Arg)
c.2436C>A (p.Ser812Arg)
c.2247C>A (p.Ser749Arg)
20g.50892495C>ACA408970944ADNPc.2219G>T (p.Ser740Ile)
c.202-2538G>T (n.202-2538G>T)
c.1535G>T (p.Ser512Ile)
c.2435G>T (p.Ser812Ile)
c.2246G>T (p.Ser749Ile)
20g.50892495C=CA2368738436ADNPc.2219G= (p.Ser740=)
c.202-2538G= (n.202-2538G=)
c.1535G= (p.Ser512=)
c.2435G= (p.Ser812=)
c.2246G= (p.Ser749=)
20g.50892495C>GCA9908622ADNPc.2219G>C (p.Ser740Thr)
c.202-2538G>C (n.202-2538G>C)
c.1535G>C (p.Ser512Thr)
c.2435G>C (p.Ser812Thr)
c.2246G>C (p.Ser749Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892495C>TCA9908621ADNPc.2219G>A (p.Ser740Asn)
c.202-2538G>A (n.202-2538G>A)
c.1535G>A (p.Ser512Asn)
c.2435G>A (p.Ser812Asn)
c.2246G>A (p.Ser749Asn)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.50892496T>ACA408970945ADNPc.2218A>T (p.Ser740Cys)
c.202-2539A>T (n.202-2539A>T)
c.1534A>T (p.Ser512Cys)
c.2434A>T (p.Ser812Cys)
c.2245A>T (p.Ser749Cys)
20g.50892496T>CCA408970946ADNPc.2218A>G (p.Ser740Gly)
c.202-2539A>G (n.202-2539A>G)
c.1534A>G (p.Ser512Gly)
c.2434A>G (p.Ser812Gly)
c.2245A>G (p.Ser749Gly)
 gnomAD v4
20g.50892496T>GCA408970947ADNPc.2218A>C (p.Ser740Arg)
c.202-2539A>C (n.202-2539A>C)
c.1534A>C (p.Ser512Arg)
c.2434A>C (p.Ser812Arg)
c.2245A>C (p.Ser749Arg)
20g.50892497G>ACA511021289ADNPc.2217C>T (p.Pro739=)
c.202-2540C>T (n.202-2540C>T)
c.1533C>T (p.Pro511=)
c.2433C>T (p.Pro811=)
c.2244C>T (p.Pro748=)
20g.50892497G>CCA511021292ADNPc.2217C>G (p.Pro739=)
c.202-2540C>G (n.202-2540C>G)
c.1533C>G (p.Pro511=)
c.2433C>G (p.Pro811=)
c.2244C>G (p.Pro748=)
 gnomAD v4
20g.50892497G>TCA511021295ADNPc.2217C>A (p.Pro739=)
c.202-2540C>A (n.202-2540C>A)
c.1533C>A (p.Pro511=)
c.2433C>A (p.Pro811=)
c.2244C>A (p.Pro748=)
20g.50892498G>ACA408970948ADNPc.2216C>T (p.Pro739Leu)
c.202-2541C>T (n.202-2541C>T)
c.1532C>T (p.Pro511Leu)
c.2432C>T (p.Pro811Leu)
c.2243C>T (p.Pro748Leu)
 dbSNP gnomAD v4
20g.50892498G>CCA408970949ADNPc.2216C>G (p.Pro739Arg)
c.202-2541C>G (n.202-2541C>G)
c.1532C>G (p.Pro511Arg)
c.2432C>G (p.Pro811Arg)
c.2243C>G (p.Pro748Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.50892498G=CA2368738437ADNPc.2216C= (p.Pro739=)
c.202-2541C= (n.202-2541C=)
c.1532C= (p.Pro511=)
c.2432C= (p.Pro811=)
c.2243C= (p.Pro748=)
20g.50892498G>TCA408970950ADNPc.2216C>A (p.Pro739His)
c.202-2541C>A (n.202-2541C>A)
c.1532C>A (p.Pro511His)
c.2432C>A (p.Pro811His)
c.2243C>A (p.Pro748His)
20g.50892499G>ACA9908623ADNPc.2215C>T (p.Pro739Ser)
c.202-2542C>T (n.202-2542C>T)
c.1531C>T (p.Pro511Ser)
c.2431C>T (p.Pro811Ser)
c.2242C>T (p.Pro748Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.50892499G>CCA408970951ADNPc.2215C>G (p.Pro739Ala)
c.202-2542C>G (n.202-2542C>G)
c.1531C>G (p.Pro511Ala)
c.2431C>G (p.Pro811Ala)
c.2242C>G (p.Pro748Ala)
20g.50892499G=CA2368738438ADNPc.2215C= (p.Pro739=)
c.202-2542C= (n.202-2542C=)
c.1531C= (p.Pro511=)
c.2431C= (p.Pro811=)
c.2242C= (p.Pro748=)
20g.50892499G>TCA408970952ADNPc.2215C>A (p.Pro739Thr)
c.202-2542C>A (n.202-2542C>A)
c.1531C>A (p.Pro511Thr)
c.2431C>A (p.Pro811Thr)
c.2242C>A (p.Pro748Thr)
20g.50892500T>ACA511021305ADNPc.2214A>T (p.Ser738=)
c.202-2543A>T (n.202-2543A>T)
c.1530A>T (p.Ser510=)
c.2430A>T (p.Ser810=)
c.2241A>T (p.Ser747=)
20g.50892500T>CCA511021308ADNPc.2214A>G (p.Ser738=)
c.202-2543A>G (n.202-2543A>G)
c.1530A>G (p.Ser510=)
c.2430A>G (p.Ser810=)
c.2241A>G (p.Ser747=)
20g.50892500T>GCA511021311ADNPc.2214A>C (p.Ser738=)
c.202-2543A>C (n.202-2543A>C)
c.1530A>C (p.Ser510=)
c.2430A>C (p.Ser810=)
c.2241A>C (p.Ser747=)
 gnomAD v4
20g.50892501G>ACA408970953ADNPc.2213C>T (p.Ser738Leu)
c.202-2544C>T (n.202-2544C>T)
c.1529C>T (p.Ser510Leu)
c.2429C>T (p.Ser810Leu)
c.2240C>T (p.Ser747Leu)
 gnomAD v4
20g.50892501G>CCA16608474ADNPc.2213C>G (p.Ser738Ter)
c.202-2544C>G (n.202-2544C>G)
c.1529C>G (p.Ser510Ter)
c.2429C>G (p.Ser810Ter)
c.2240C>G (p.Ser747Ter)
 ClinVar dbSNP
20g.50892501G=CA2368738439ADNPc.2213C= (p.Ser738=)
c.202-2544C= (n.202-2544C=)
c.1529C= (p.Ser510=)
c.2429C= (p.Ser810=)
c.2240C= (p.Ser747=)
20g.50892501G>TCA408970954ADNPc.2213C>A (p.Ser738Ter)
c.202-2544C>A (n.202-2544C>A)
c.1529C>A (p.Ser510Ter)
c.2429C>A (p.Ser810Ter)
c.2240C>A (p.Ser747Ter)
 ClinVar dbSNP
20g.50892501dupCA2580616338ADNPc.2213dup (p.Pro739ThrfsTer5)
c.202-2544dup (n.202-2544dup)
c.1529dup (p.Pro511ThrfsTer5)
c.2429dup (p.Pro811ThrfsTer5)
c.2240dup (p.Pro748ThrfsTer5)
 ClinVar
20g.50892502A>CCA408970956ADNPc.2212T>G (p.Ser738Ala)
c.202-2545T>G (n.202-2545T>G)
c.1528T>G (p.Ser510Ala)
c.2428T>G (p.Ser810Ala)
c.2239T>G (p.Ser747Ala)
20g.50892502A>GCA408970957ADNPc.2212T>C (p.Ser738Pro)
c.202-2545T>C (n.202-2545T>C)
c.1528T>C (p.Ser510Pro)
c.2428T>C (p.Ser810Pro)
c.2239T>C (p.Ser747Pro)
20g.50892502A>TCA408970955ADNPc.2212T>A (p.Ser738Thr)
c.202-2545T>A (n.202-2545T>A)
c.1528T>A (p.Ser510Thr)
c.2428T>A (p.Ser810Thr)
c.2239T>A (p.Ser747Thr)
20g.50892503dupCA1139771212ADNPc.2212dup (p.Ser738PhefsTer6)
c.202-2545dup (n.202-2545dup)
c.1528dup (p.Ser510PhefsTer6)
c.2428dup (p.Ser810PhefsTer6)
c.2239dup (p.Ser747PhefsTer6)
 ClinVar
20g.50892503A>CCA408970958ADNPc.2211T>G (p.Asp737Glu)
c.202-2546T>G (n.202-2546T>G)
c.1527T>G (p.Asp509Glu)
c.2427T>G (p.Asp809Glu)
c.2238T>G (p.Asp746Glu)
20g.50892503A>GCA511021315ADNPc.2211T>C (p.Asp737=)
c.202-2546T>C (n.202-2546T>C)
c.1527T>C (p.Asp509=)
c.2427T>C (p.Asp809=)
c.2238T>C (p.Asp746=)
20g.50892503A>TCA408970959ADNPc.2211T>A (p.Asp737Glu)
c.202-2546T>A (n.202-2546T>A)
c.1527T>A (p.Asp509Glu)
c.2427T>A (p.Asp809Glu)
c.2238T>A (p.Asp746Glu)
 gnomAD v4
20g.50892504T>ACA408970960ADNPc.2210A>T (p.Asp737Val)
c.202-2547A>T (n.202-2547A>T)
c.1526A>T (p.Asp509Val)
c.2426A>T (p.Asp809Val)
c.2237A>T (p.Asp746Val)
20g.50892504T>CCA408970961ADNPc.2210A>G (p.Asp737Gly)
c.202-2547A>G (n.202-2547A>G)
c.1526A>G (p.Asp509Gly)
c.2426A>G (p.Asp809Gly)
c.2237A>G (p.Asp746Gly)
20g.50892504T>GCA408970962ADNPc.2210A>C (p.Asp737Ala)
c.202-2547A>C (n.202-2547A>C)
c.1526A>C (p.Asp509Ala)
c.2426A>C (p.Asp809Ala)
c.2237A>C (p.Asp746Ala)
20g.50892505C>ACA408970963ADNPc.2209G>T (p.Asp737Tyr)
c.202-2548G>T (n.202-2548G>T)
c.1525G>T (p.Asp509Tyr)
c.2425G>T (p.Asp809Tyr)
c.2236G>T (p.Asp746Tyr)
20g.50892505C>GCA408970964ADNPc.2209G>C (p.Asp737His)
c.202-2548G>C (n.202-2548G>C)
c.1525G>C (p.Asp509His)
c.2425G>C (p.Asp809His)
c.2236G>C (p.Asp746His)
20g.50892505C>TCA408970965ADNPc.2209G>A (p.Asp737Asn)
c.202-2548G>A (n.202-2548G>A)
c.1525G>A (p.Asp509Asn)
c.2425G>A (p.Asp809Asn)
c.2236G>A (p.Asp746Asn)
20g.50892506A=CA2368738440ADNPc.2208T= (p.Ser736=)
c.202-2549T= (n.202-2549T=)
c.1524T= (p.Ser508=)
c.2424T= (p.Ser808=)
c.2235T= (p.Ser745=)
20g.50892506A>CCA408970966ADNPc.2208T>G (p.Ser736Arg)
c.202-2549T>G (n.202-2549T>G)
c.1524T>G (p.Ser508Arg)
c.2424T>G (p.Ser808Arg)
c.2235T>G (p.Ser745Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.50892506A>GCA511021320ADNPc.2208T>C (p.Ser736=)
c.202-2549T>C (n.202-2549T>C)
c.1524T>C (p.Ser508=)
c.2424T>C (p.Ser808=)
c.2235T>C (p.Ser745=)
 COSMIC
20g.50892506A>TCA408970967ADNPc.2208T>A (p.Ser736Arg)
c.202-2549T>A (n.202-2549T>A)
c.1524T>A (p.Ser508Arg)
c.2424T>A (p.Ser808Arg)
c.2235T>A (p.Ser745Arg)
20g.50892507C>ACA408970968ADNPc.2207G>T (p.Ser736Ile)
c.202-2550G>T (n.202-2550G>T)
c.1523G>T (p.Ser508Ile)
c.2423G>T (p.Ser808Ile)
c.2234G>T (p.Ser745Ile)
20g.50892507C>GCA408970969ADNPc.2207G>C (p.Ser736Thr)
c.202-2550G>C (n.202-2550G>C)
c.1523G>C (p.Ser508Thr)
c.2423G>C (p.Ser808Thr)
c.2234G>C (p.Ser745Thr)
20g.50892507C>TCA408970970ADNPc.2207G>A (p.Ser736Asn)
c.202-2550G>A (n.202-2550G>A)
c.1523G>A (p.Ser508Asn)
c.2423G>A (p.Ser808Asn)
c.2234G>A (p.Ser745Asn)
20g.50892508T>ACA408970972ADNPc.2206A>T (p.Ser736Cys)
c.202-2551A>T (n.202-2551A>T)
c.1522A>T (p.Ser508Cys)
c.2422A>T (p.Ser808Cys)
c.2233A>T (p.Ser745Cys)
20g.50892508T>CCA315257009ADNPc.2206A>G (p.Ser736Gly)
c.202-2551A>G (n.202-2551A>G)
c.1522A>G (p.Ser508Gly)
c.2422A>G (p.Ser808Gly)
c.2233A>G (p.Ser745Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.50892508T>GCA408970971ADNPc.2206A>C (p.Ser736Arg)
c.202-2551A>C (n.202-2551A>C)
c.1522A>C (p.Ser508Arg)
c.2422A>C (p.Ser808Arg)
c.2233A>C (p.Ser745Arg)
20g.50892508T=CA2368738442ADNPc.2206A= (p.Ser736=)
c.202-2551A= (n.202-2551A=)
c.1522A= (p.Ser508=)
c.2422A= (p.Ser808=)
c.2233A= (p.Ser745=)
20g.50892508dupCA2695229857ADNPc.2206dup (p.Ser736LysfsTer2)
c.202-2551dup (n.202-2551dup)
c.1522dup (p.Ser508LysfsTer2)
c.2422dup (p.Ser808LysfsTer2)
c.2233dup (p.Ser745LysfsTer2)
20g.50892508_50892511delinsTATCCA2368738441ADNPc.2203_2206delinsGATA (p.Asp735=)
c.202-2554_202-2551delinsGATA (n.202-2554_202-2551delinsGATA)
c.1519_1522delinsGATA (p.Asp507=)
c.2419_2422delinsGATA (p.Asp807=)
c.2230_2233delinsGATA (p.Asp744=)
20g.50892509A>CCA408970973ADNPc.2205T>G (p.Asp735Glu)
c.202-2552T>G (n.202-2552T>G)
c.1521T>G (p.Asp507Glu)
c.2421T>G (p.Asp807Glu)
c.2232T>G (p.Asp744Glu)
20g.50892509A>GCA511021326ADNPc.2205T>C (p.Asp735=)
c.202-2552T>C (n.202-2552T>C)
c.1521T>C (p.Asp507=)
c.2421T>C (p.Asp807=)
c.2232T>C (p.Asp744=)
20g.50892509A>TCA408970974ADNPc.2205T>A (p.Asp735Glu)
c.202-2552T>A (n.202-2552T>A)
c.1521T>A (p.Asp507Glu)
c.2421T>A (p.Asp807Glu)
c.2232T>A (p.Asp744Glu)
20g.50892515_50892517dupCA636172046ADNPc.2203_2205dup (p.Asp735_Ser736insAsp)
c.202-2554_202-2552dup (n.202-2554_202-2552dup)
c.1519_1521dup (p.Asp507_Ser508insAsp)
c.2419_2421dup (p.Asp807_Ser808insAsp)
c.2230_2232dup (p.Asp744_Ser745insAsp)
 dbSNP gnomAD v2 gnomAD v4
20g.50892515_50892517delCA9908624ADNPc.2203_2205del (p.Asp735del)
c.202-2554_202-2552del (n.202-2554_202-2552del)
c.1519_1521del (p.Asp507del)
c.2419_2421del (p.Asp807del)
c.2230_2232del (p.Asp744del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892510T>ACA408970975ADNPc.2204A>T (p.Asp735Val)
c.202-2553A>T (n.202-2553A>T)
c.1520A>T (p.Asp507Val)
c.2420A>T (p.Asp807Val)
c.2231A>T (p.Asp744Val)
20g.50892510T>CCA408970976ADNPc.2204A>G (p.Asp735Gly)
c.202-2553A>G (n.202-2553A>G)
c.1520A>G (p.Asp507Gly)
c.2420A>G (p.Asp807Gly)
c.2231A>G (p.Asp744Gly)
20g.50892510T>GCA408970977ADNPc.2204A>C (p.Asp735Ala)
c.202-2553A>C (n.202-2553A>C)
c.1520A>C (p.Asp507Ala)
c.2420A>C (p.Asp807Ala)
c.2231A>C (p.Asp744Ala)
 ClinVar
20g.50892511C>ACA408970978ADNPc.2203G>T (p.Asp735Tyr)
c.202-2554G>T (n.202-2554G>T)
c.1519G>T (p.Asp507Tyr)
c.2419G>T (p.Asp807Tyr)
c.2230G>T (p.Asp744Tyr)
20g.50892511C=CA2368738443ADNPc.2203G= (p.Asp735=)
c.202-2554G= (n.202-2554G=)
c.1519G= (p.Asp507=)
c.2419G= (p.Asp807=)
c.2230G= (p.Asp744=)
20g.50892511C>GCA408970979ADNPc.2203G>C (p.Asp735His)
c.202-2554G>C (n.202-2554G>C)
c.1519G>C (p.Asp507His)
c.2419G>C (p.Asp807His)
c.2230G>C (p.Asp744His)
20g.50892511C>TCA408970980ADNPc.2203G>A (p.Asp735Asn)
c.202-2554G>A (n.202-2554G>A)
c.1519G>A (p.Asp507Asn)
c.2419G>A (p.Asp807Asn)
c.2230G>A (p.Asp744Asn)
 ClinVar dbSNP gnomAD v4
20g.50892512A>CCA408970981ADNPc.2202T>G (p.Asp734Glu)
c.202-2555T>G (n.202-2555T>G)
c.1518T>G (p.Asp506Glu)
c.2418T>G (p.Asp806Glu)
c.2229T>G (p.Asp743Glu)
20g.50892512A>GCA511021330ADNPc.2202T>C (p.Asp734=)
c.202-2555T>C (n.202-2555T>C)
c.1518T>C (p.Asp506=)
c.2418T>C (p.Asp806=)
c.2229T>C (p.Asp743=)
20g.50892512A>TCA408970982ADNPc.2202T>A (p.Asp734Glu)
c.202-2555T>A (n.202-2555T>A)
c.1518T>A (p.Asp506Glu)
c.2418T>A (p.Asp806Glu)
c.2229T>A (p.Asp743Glu)
20g.50892513T>ACA408970984ADNPc.2201A>T (p.Asp734Val)
c.202-2556A>T (n.202-2556A>T)
c.1517A>T (p.Asp506Val)
c.2417A>T (p.Asp806Val)
c.2228A>T (p.Asp743Val)
20g.50892513T>CCA315257021ADNPc.2201A>G (p.Asp734Gly)
c.202-2556A>G (n.202-2556A>G)
c.1517A>G (p.Asp506Gly)
c.2417A>G (p.Asp806Gly)
c.2228A>G (p.Asp743Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.50892513T>GCA408970983ADNPc.2201A>C (p.Asp734Ala)
c.202-2556A>C (n.202-2556A>C)
c.1517A>C (p.Asp506Ala)
c.2417A>C (p.Asp806Ala)
c.2228A>C (p.Asp743Ala)
 dbSNP
20g.50892513T=CA2368738444ADNPc.2201A= (p.Asp734=)
c.202-2556A= (n.202-2556A=)
c.1517A= (p.Asp506=)
c.2417A= (p.Asp806=)
c.2228A= (p.Asp743=)
20g.50892514C>ACA408970985ADNPc.2200G>T (p.Asp734Tyr)
c.202-2557G>T (n.202-2557G>T)
c.1516G>T (p.Asp506Tyr)
c.2416G>T (p.Asp806Tyr)
c.2227G>T (p.Asp743Tyr)
 dbSNP
20g.50892514C=CA2368738445ADNPc.2200G= (p.Asp734=)
c.202-2557G= (n.202-2557G=)
c.1516G= (p.Asp506=)
c.2416G= (p.Asp806=)
c.2227G= (p.Asp743=)
20g.50892514C>GCA408970987ADNPc.2200G>C (p.Asp734His)
c.202-2557G>C (n.202-2557G>C)
c.1516G>C (p.Asp506His)
c.2416G>C (p.Asp806His)
c.2227G>C (p.Asp743His)
20g.50892514C>TCA408970986ADNPc.2200G>A (p.Asp734Asn)
c.202-2557G>A (n.202-2557G>A)
c.1516G>A (p.Asp506Asn)
c.2416G>A (p.Asp806Asn)
c.2227G>A (p.Asp743Asn)
 gnomAD v4 COSMIC
20g.50892515A>CCA408970988ADNPc.2199T>G (p.Asp733Glu)
c.202-2558T>G (n.202-2558T>G)
c.1515T>G (p.Asp505Glu)
c.2415T>G (p.Asp805Glu)
c.2226T>G (p.Asp742Glu)
 gnomAD v4
20g.50892515A>GCA511021335ADNPc.2199T>C (p.Asp733=)
c.202-2558T>C (n.202-2558T>C)
c.1515T>C (p.Asp505=)
c.2415T>C (p.Asp805=)
c.2226T>C (p.Asp742=)
 gnomAD v4
20g.50892515A>TCA408970989ADNPc.2199T>A (p.Asp733Glu)
c.202-2558T>A (n.202-2558T>A)
c.1515T>A (p.Asp505Glu)
c.2415T>A (p.Asp805Glu)
c.2226T>A (p.Asp742Glu)
20g.50892516T>ACA408970990ADNPc.2198A>T (p.Asp733Val)
c.202-2559A>T (n.202-2559A>T)
c.1514A>T (p.Asp505Val)
c.2414A>T (p.Asp805Val)
c.2225A>T (p.Asp742Val)
 dbSNP gnomAD v4
20g.50892516T>CCA408970991ADNPc.2198A>G (p.Asp733Gly)
c.202-2559A>G (n.202-2559A>G)
c.1514A>G (p.Asp505Gly)
c.2414A>G (p.Asp805Gly)
c.2225A>G (p.Asp742Gly)
 gnomAD v4
20g.50892516T>GCA408970992ADNPc.2198A>C (p.Asp733Ala)
c.202-2559A>C (n.202-2559A>C)
c.1514A>C (p.Asp505Ala)
c.2414A>C (p.Asp805Ala)
c.2225A>C (p.Asp742Ala)
20g.50892516_50892520delinsTCTAACA2368738446ADNPc.2194_2198delinsTTAGA (p.Leu732=)
c.202-2563_202-2559delinsTTAGA (n.202-2563_202-2559delinsTTAGA)
c.1510_1514delinsTTAGA (p.Leu504=)
c.2410_2414delinsTTAGA (p.Leu804=)
c.2221_2225delinsTTAGA (p.Leu741=)
20g.50892517C>ACA408970993ADNPc.2197G>T (p.Asp733Tyr)
c.202-2560G>T (n.202-2560G>T)
c.1513G>T (p.Asp505Tyr)
c.2413G>T (p.Asp805Tyr)
c.2224G>T (p.Asp742Tyr)
20g.50892517C>GCA408970994ADNPc.2197G>C (p.Asp733His)
c.202-2560G>C (n.202-2560G>C)
c.1513G>C (p.Asp505His)
c.2413G>C (p.Asp805His)
c.2224G>C (p.Asp742His)
20g.50892517C>TCA408970995ADNPc.2197G>A (p.Asp733Asn)
c.202-2560G>A (n.202-2560G>A)
c.1513G>A (p.Asp505Asn)
c.2413G>A (p.Asp805Asn)
c.2224G>A (p.Asp742Asn)
 gnomAD v4
20g.50892517_50892521delinsTCA2580098313ADNPc.2193_2197delinsA (p.Leu732MetfsTer20)
c.202-2564_202-2560delinsA (n.202-2564_202-2560delinsA)
c.1509_1513delinsA (p.Leu504MetfsTer20)
c.2409_2413delinsA (p.Leu804MetfsTer20)
c.2220_2224delinsA (p.Leu741MetfsTer20)
 ClinVar
20g.50892519_50892522delCA658658874ADNPc.2194_2197del (p.Leu732MetfsTer20)
c.202-2563_202-2560del (n.202-2563_202-2560del)
c.1510_1513del (p.Leu504MetfsTer20)
c.2410_2413del (p.Leu804MetfsTer20)
c.2221_2224del (p.Leu741MetfsTer20)
 ClinVar dbSNP
20g.50892518T>ACA408970996ADNPc.2196A>T (p.Leu732Phe)
c.202-2561A>T (n.202-2561A>T)
c.1512A>T (p.Leu504Phe)
c.2412A>T (p.Leu804Phe)
c.2223A>T (p.Leu741Phe)
 COSMIC
20g.50892518T>CCA511021340ADNPc.2196A>G (p.Leu732=)
c.202-2561A>G (n.202-2561A>G)
c.1512A>G (p.Leu504=)
c.2412A>G (p.Leu804=)
c.2223A>G (p.Leu741=)
 gnomAD v4
20g.50892518T>GCA408970997ADNPc.2196A>C (p.Leu732Phe)
c.202-2561A>C (n.202-2561A>C)
c.1512A>C (p.Leu504Phe)
c.2412A>C (p.Leu804Phe)
c.2223A>C (p.Leu741Phe)
20g.50892518_50892519delinsTACA2368738447ADNPc.2195_2196delinsTA (p.Leu732=)
c.202-2562_202-2561delinsTA (n.202-2562_202-2561delinsTA)
c.1511_1512delinsTA (p.Leu504=)
c.2411_2412delinsTA (p.Leu804=)
c.2222_2223delinsTA (p.Leu741=)
20g.50892519A>CCA408970998ADNPc.2195T>G (p.Leu732Ter)
c.202-2562T>G (n.202-2562T>G)
c.1511T>G (p.Leu504Ter)
c.2411T>G (p.Leu804Ter)
c.2222T>G (p.Leu741Ter)
20g.50892519A>GCA408970999ADNPc.2195T>C (p.Leu732Ser)
c.202-2562T>C (n.202-2562T>C)
c.1511T>C (p.Leu504Ser)
c.2411T>C (p.Leu804Ser)
c.2222T>C (p.Leu741Ser)
20g.50892519A>TCA408971000ADNPc.2195T>A (p.Leu732Ter)
c.202-2562T>A (n.202-2562T>A)
c.1511T>A (p.Leu504Ter)
c.2411T>A (p.Leu804Ter)
c.2222T>A (p.Leu741Ter)
 COSMIC
20g.50892520delCA645369786ADNPc.2195del (p.Leu732Ter)
c.202-2562del (n.202-2562del)
c.1511del (p.Leu504Ter)
c.2411del (p.Leu804Ter)
c.2222del (p.Leu741Ter)
 ClinVar dbSNP
20g.50892520A>CCA408971001ADNPc.2194T>G (p.Leu732Val)
c.202-2563T>G (n.202-2563T>G)
c.1510T>G (p.Leu504Val)
c.2410T>G (p.Leu804Val)
c.2221T>G (p.Leu741Val)
 gnomAD v4
20g.50892520A>GCA511021341ADNPc.2194T>C (p.Leu732=)
c.202-2563T>C (n.202-2563T>C)
c.1510T>C (p.Leu504=)
c.2410T>C (p.Leu804=)
c.2221T>C (p.Leu741=)
20g.50892520A>TCA408971002ADNPc.2194T>A (p.Leu732Ile)
c.202-2563T>A (n.202-2563T>A)
c.1510T>A (p.Leu504Ile)
c.2410T>A (p.Leu804Ile)
c.2221T>A (p.Leu741Ile)
20g.50892521C>ACA408971003ADNPc.2193G>T (p.Lys731Asn)
c.202-2564G>T (n.202-2564G>T)
c.1509G>T (p.Lys503Asn)
c.2409G>T (p.Lys803Asn)
c.2220G>T (p.Lys740Asn)
20g.50892521C>GCA408971004ADNPc.2193G>C (p.Lys731Asn)
c.202-2564G>C (n.202-2564G>C)
c.1509G>C (p.Lys503Asn)
c.2409G>C (p.Lys803Asn)
c.2220G>C (p.Lys740Asn)
20g.50892521C>TCA511021343ADNPc.2193G>A (p.Lys731=)
c.202-2564G>A (n.202-2564G>A)
c.1509G>A (p.Lys503=)
c.2409G>A (p.Lys803=)
c.2220G>A (p.Lys740=)
 gnomAD v4
20g.50892522T>ACA408971005ADNPc.2192A>T (p.Lys731Met)
c.202-2565A>T (n.202-2565A>T)
c.1508A>T (p.Lys503Met)
c.2408A>T (p.Lys803Met)
c.2219A>T (p.Lys740Met)
20g.50892522T>CCA408971006ADNPc.2192A>G (p.Lys731Arg)
c.202-2565A>G (n.202-2565A>G)
c.1508A>G (p.Lys503Arg)
c.2408A>G (p.Lys803Arg)
c.2219A>G (p.Lys740Arg)
20g.50892522T>GCA408971007ADNPc.2192A>C (p.Lys731Thr)
c.202-2565A>C (n.202-2565A>C)
c.1508A>C (p.Lys503Thr)
c.2408A>C (p.Lys803Thr)
c.2219A>C (p.Lys740Thr)
20g.50892523T>ACA408971008ADNPc.2191A>T (p.Lys731Ter)
c.202-2566A>T (n.202-2566A>T)
c.1507A>T (p.Lys503Ter)
c.2407A>T (p.Lys803Ter)
c.2218A>T (p.Lys740Ter)
20g.50892523T>CCA408971009ADNPc.2191A>G (p.Lys731Glu)
c.202-2566A>G (n.202-2566A>G)
c.1507A>G (p.Lys503Glu)
c.2407A>G (p.Lys803Glu)
c.2218A>G (p.Lys740Glu)
20g.50892523T>GCA408971010ADNPc.2191A>C (p.Lys731Gln)
c.202-2566A>C (n.202-2566A>C)
c.1507A>C (p.Lys503Gln)
c.2407A>C (p.Lys803Gln)
c.2218A>C (p.Lys740Gln)
20g.50892524T>ACA511021347ADNPc.2190A>T (p.Arg730=)
c.202-2567A>T (n.202-2567A>T)
c.1506A>T (p.Arg502=)
c.2406A>T (p.Arg802=)
c.2217A>T (p.Arg739=)
20g.50892524T>CCA315257023ADNPc.2190A>G (p.Arg730=)
c.202-2567A>G (n.202-2567A>G)
c.1506A>G (p.Arg502=)
c.2406A>G (p.Arg802=)
c.2217A>G (p.Arg739=)
 dbSNP gnomAD v3 gnomAD v4
20g.50892524T>GCA511021348ADNPc.2190A>C (p.Arg730=)
c.202-2567A>C (n.202-2567A>C)
c.1506A>C (p.Arg502=)
c.2406A>C (p.Arg802=)
c.2217A>C (p.Arg739=)
20g.50892524T=CA2368738448ADNPc.2190A= (p.Arg730=)
c.202-2567A= (n.202-2567A=)
c.1506A= (p.Arg502=)
c.2406A= (p.Arg802=)
c.2217A= (p.Arg739=)
20g.50892525delCA2740094593ADNPc.2189del (p.Arg730GlnfsTer3)
c.202-2568del (n.202-2568del)
c.1505del (p.Arg502GlnfsTer3)
c.2405del (p.Arg802GlnfsTer3)
c.2216del (p.Arg739GlnfsTer3)
 ClinVar
20g.50892525C>ACA408971011ADNPc.2189G>T (p.Arg730Leu)
c.202-2568G>T (n.202-2568G>T)
c.1505G>T (p.Arg502Leu)
c.2405G>T (p.Arg802Leu)
c.2216G>T (p.Arg739Leu)
 COSMIC
20g.50892525C=CA2368738449ADNPc.2189G= (p.Arg730=)
c.202-2568G= (n.202-2568G=)
c.1505G= (p.Arg502=)
c.2405G= (p.Arg802=)
c.2216G= (p.Arg739=)
20g.50892525C>GCA408971012ADNPc.2189G>C (p.Arg730Pro)
c.202-2568G>C (n.202-2568G>C)
c.1505G>C (p.Arg502Pro)
c.2405G>C (p.Arg802Pro)
c.2216G>C (p.Arg739Pro)
 ClinVar dbSNP
20g.50892525C>TCA9908625ADNPc.2189G>A (p.Arg730Gln)
c.202-2568G>A (n.202-2568G>A)
c.1505G>A (p.Arg502Gln)
c.2405G>A (p.Arg802Gln)
c.2216G>A (p.Arg739Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.50892526G>ACA10602716ADNPc.2188C>T (p.Arg730Ter)
c.202-2569C>T (n.202-2569C>T)
c.1504C>T (p.Arg502Ter)
c.2404C>T (p.Arg802Ter)
c.2215C>T (p.Arg739Ter)
 ClinVar dbSNP
20g.50892526G>CCA408971013ADNPc.2188C>G (p.Arg730Gly)
c.202-2569C>G (n.202-2569C>G)
c.1504C>G (p.Arg502Gly)
c.2404C>G (p.Arg802Gly)
c.2215C>G (p.Arg739Gly)
20g.50892526G=CA2368738451ADNPc.2188C= (p.Arg730=)
c.202-2569C= (n.202-2569C=)
c.1504C= (p.Arg502=)
c.2404C= (p.Arg802=)
c.2215C= (p.Arg739=)
20g.50892526G>TCA511021352ADNPc.2188C>A (p.Arg730=)
c.202-2569C>A (n.202-2569C>A)
c.1504C>A (p.Arg502=)
c.2404C>A (p.Arg802=)
c.2215C>A (p.Arg739=)
20g.50892526_50892527delinsGTCA2368738450ADNPc.2187_2188delinsAC (p.Lys729=)
c.202-2570_202-2569delinsAC (n.202-2570_202-2569delinsAC)
c.1503_1504delinsAC (p.Lys501=)
c.2403_2404delinsAC (p.Lys801=)
c.2214_2215delinsAC (p.Lys738=)

Number of alleles fetched