Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.74721623_74721641dupCA2674242239GFM2,HEXBc.*14_*32dup (n.*14_*32dup)
c.608+187_608+205dup
c.255+187_255+205dup
n.380+187_380+205dup
n.757_775dup
n.2673_2691dup
n.3640_3658dup
n.2419_2437dup
 gnomAD v4
5g.74721634_74721650delCA2674242243GFM2,HEXBc.*5_*21del (n.*5_*21del)
c.608+198_608+214del
c.255+198_255+214del
n.380+198_380+214del
n.748_764del
n.2664_2680del
n.3631_3647del
n.2410_2426del
 gnomAD v4
5g.74721636_74721673dupCA1555784295GFM2,HEXBc.2324_*21dup (n.2324_*21dup)
c.2183_*21dup (n.2183_*21dup)
c.608+200_608+237dup
c.255+200_255+237dup
n.380+200_380+237dup
n.727_764dup
c.2420_*21dup (n.2420_*21dup)
n.2643_2680dup
c.2189_*21dup (n.2189_*21dup)
n.3610_3647dup
n.2389_2426dup
 dbSNP
5g.74721637_74721656dupCA813921273GFM2,HEXBc.2340_*19dup (n.2340_*19dup)
c.2199_*19dup (n.2199_*19dup)
c.608+201_608+220dup
c.255+201_255+220dup
n.380+201_380+220dup
n.743_762dup
c.2436_*19dup (n.2436_*19dup)
n.2659_2678dup
c.2205_*19dup (n.2205_*19dup)
n.3626_3645dup
n.2405_2424dup
 dbSNP gnomAD v3 gnomAD v4
5g.74721642_74721667dupCA1077558930GFM2,HEXBc.2331_*16dup (n.2331_*16dup)
c.2190_*16dup (n.2190_*16dup)
c.608+206_608+231dup
c.255+206_255+231dup
n.380+206_380+231dup
n.734_759dup
c.2427_*16dup (n.2427_*16dup)
n.2650_2675dup
c.2196_*16dup (n.2196_*16dup)
n.3617_3642dup
n.2396_2421dup
 dbSNP gnomAD v3 gnomAD v4
5g.74721640C>ACA560368234GFM2,HEXBc.*15G>T (n.*15G>T)
c.608+204C>A
c.255+204C>A
n.380+204C>A
n.758G>T
n.2674G>T
n.3641G>T
n.2420G>T
 dbSNP gnomAD v2 gnomAD v4
5g.74721640C=CA1555784300GFM2,HEXBc.*15G= (n.*15G=)
c.608+204C=
c.255+204C=
n.380+204C=
n.758G=
n.2674G=
n.3641G=
n.2420G=
5g.74721642_74721653dupCA3306288GFM2,HEXBc.*4_*15dup (n.*4_*15dup)
c.608+206_608+217dup
c.255+206_255+217dup
n.380+206_380+217dup
n.747_758dup
n.2663_2674dup
n.3630_3641dup
n.2409_2420dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721644_74721664delCA560368233GFM2,HEXBc.2335_*15del (n.[c.2335_*15del;Thr779GlufsTer?])
c.2194_*15del (n.[c.2194_*15del;Thr732GlufsTer?])
c.608+208_608+228del
c.255+208_255+228del
n.380+208_380+228del
n.738_758del
c.2431_*15del (n.[c.2431_*15del;Thr811GlufsTer?])
n.2654_2674del
c.2200_*15del (n.[c.2200_*15del;Thr734GlufsTer?])
n.3621_3641del
n.2400_2420del
 gnomAD v2 gnomAD v4
5g.74721641A=CA1555784301GFM2,HEXBc.*14T= (n.*14T=)
c.608+205A=
c.255+205A=
n.380+205A=
n.757T=
n.2673T=
n.3640T=
n.2419T=
5g.74721641A>GCA3306290GFM2,HEXBc.*14T>C (n.*14T>C)
c.608+205A>G
c.255+205A>G
n.380+205A>G
n.757T>C
n.2673T>C
n.3640T>C
n.2419T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721645dupCA2767029852GFM2,HEXBc.*14dup (n.*14dup)
c.608+209dup
c.255+209dup
n.380+209dup
n.757dup
n.2673dup
n.3640dup
n.2419dup
5g.74721642A=CA1555784302GFM2,HEXBc.*13T= (n.*13T=)
c.608+206A=
c.255+206A=
n.380+206A=
n.756T=
n.2672T=
n.3639T=
n.2418T=
5g.74721642A>TCA1555784303GFM2,HEXBc.*13T>A (n.*13T>A)
c.608+206A>T
c.255+206A>T
n.380+206A>T
n.756T>A
n.2672T>A
n.3639T>A
n.2418T>A
 dbSNP
5g.74721643_74721657dupCA2674242245GFM2,HEXBc.2339_*13dup (n.2339_*13dup)
c.2198_*13dup (n.2198_*13dup)
c.608+207_608+221dup
c.255+207_255+221dup
n.380+207_380+221dup
n.742_756dup
c.2435_*13dup (n.2435_*13dup)
n.2658_2672dup
c.2204_*13dup (n.2204_*13dup)
n.3625_3639dup
n.2404_2418dup
 gnomAD v4
5g.74721644_74721657dupCA2674242246GFM2,HEXBc.2339_*12dup (n.2339_*12dup)
c.2198_*12dup (n.2198_*12dup)
c.608+208_608+221dup
c.255+208_255+221dup
n.380+208_380+221dup
n.742_755dup
c.2435_*12dup (n.2435_*12dup)
n.2658_2671dup
c.2204_*12dup (n.2204_*12dup)
n.3625_3638dup
n.2404_2417dup
 gnomAD v4
5g.74721645A>TCA2674242247GFM2,HEXBc.*10T>A (n.*10T>A)
c.608+209A>T
c.255+209A>T
n.380+209A>T
n.753T>A
n.2669T>A
n.3636T>A
n.2415T>A
 gnomAD v4
5g.74721646C=CA1555784304GFM2,HEXBc.*9G= (n.*9G=)
c.608+210C=
c.255+210C=
n.380+210C=
n.752G=
n.2668G=
n.3635G=
n.2414G=
5g.74721646C>GCA3306291GFM2,HEXBc.*9G>C (n.*9G>C)
c.608+210C>G
c.255+210C>G
n.380+210C>G
n.752G>C
n.2668G>C
n.3635G>C
n.2414G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721646C>TCA2578336288GFM2,HEXBc.*9G>A (n.*9G>A)
c.608+210C>T
c.255+210C>T
n.380+210C>T
n.752G>A
n.2668G>A
n.3635G>A
n.2414G>A
 gnomAD v4
5g.74721647T>ACA2674242248GFM2,HEXBc.*8A>T (n.*8A>T)
c.608+211T>A
c.255+211T>A
n.380+211T>A
n.751A>T
n.2667A>T
n.3634A>T
n.2413A>T
 gnomAD v4
5g.74721647T>GCA560368238GFM2,HEXBc.*8A>C (n.*8A>C)
c.608+211T>G
c.255+211T>G
n.380+211T>G
n.751A>C
n.2667A>C
n.3634A>C
n.2413A>C
 dbSNP gnomAD v2 gnomAD v4
5g.74721647T=CA1555784306GFM2,HEXBc.*8A= (n.*8A=)
c.608+211T=
c.255+211T=
n.380+211T=
n.751A=
n.2667A=
n.3634A=
n.2413A=
5g.74721647dupCA560368236GFM2,HEXBc.*8dup (n.*8dup)
c.608+211dup
c.255+211dup
n.380+211dup
n.751dup
n.2667dup
n.3634dup
n.2413dup
 dbSNP gnomAD v2 gnomAD v4
5g.74721647_74721648delinsTACA1555784307GFM2,HEXBc.*7_*8delinsTA (n.*7_*8delinsTA)
c.608+211_608+212delinsTA
c.255+211_255+212delinsTA
n.380+211_380+212delinsTA
n.750_751delinsTA
n.2666_2667delinsTA
n.3633_3634delinsTA
n.2412_2413delinsTA
5g.74721648_74721654dupCA2578336289GFM2,HEXBc.*2_*8dup (n.*2_*8dup)
c.608+212_608+218dup
c.255+212_255+218dup
n.380+212_380+218dup
n.745_751dup
n.2661_2667dup
n.3628_3634dup
n.2407_2413dup
 gnomAD v4
5g.74721649_74721657dupCA1555784305GFM2,HEXBc.2340_*8dup (n.2340_*8dup)
c.2199_*8dup (n.2199_*8dup)
c.608+213_608+221dup
c.255+213_255+221dup
n.380+213_380+221dup
n.743_751dup
c.2436_*8dup (n.2436_*8dup)
n.2659_2667dup
c.2205_*8dup (n.2205_*8dup)
n.3626_3634dup
n.2405_2413dup
 dbSNP gnomAD v4
5g.74721648A>TCA2674242249GFM2,HEXBc.*7T>A (n.*7T>A)
c.608+212A>T
c.255+212A>T
n.380+212A>T
n.750T>A
n.2666T>A
n.3633T>A
n.2412T>A
 gnomAD v4
5g.74721651dupCA917503389GFM2,HEXBc.*7dup (n.*7dup)
c.608+215dup
c.255+215dup
n.380+215dup
n.750dup
n.2666dup
n.3633dup
n.2412dup
 dbSNP gnomAD v4
5g.74721651delCA1555784308GFM2,HEXBc.*7del (n.*7del)
c.608+215del
c.255+215del
n.380+215del
n.750del
n.2666del
n.3633del
n.2412del
 dbSNP
5g.74721649A=CA1555784309GFM2,HEXBc.*6T= (n.*6T=)
c.608+213A=
c.255+213A=
n.380+213A=
n.749T=
n.2665T=
n.3632T=
n.2411T=
5g.74721649A>TCA120908714GFM2,HEXBc.*6T>A (n.*6T>A)
c.608+213A>T
c.255+213A>T
n.380+213A>T
n.749T>A
n.2665T>A
n.3632T>A
n.2411T>A
 dbSNP gnomAD v3 gnomAD v4
5g.74721651A>GCA2674242250GFM2,HEXBc.*4T>C (n.*4T>C)
c.608+215A>G
c.255+215A>G
n.380+215A>G
n.747T>C
n.2663T>C
n.3630T>C
n.2409T>C
 gnomAD v4
5g.74721653A=CA1555784310GFM2,HEXBc.*2T= (n.*2T=)
c.608+217A=
c.255+217A=
n.380+217A=
n.745T=
n.2661T=
n.3628T=
n.2407T=
5g.74721653A>CCA2674242251GFM2,HEXBc.*2T>G (n.*2T>G)
c.608+217A>C
c.255+217A>C
n.380+217A>C
n.745T>G
n.2661T>G
n.3628T>G
n.2407T>G
 gnomAD v4
5g.74721653A>GCA3306292GFM2,HEXBc.*2T>C (n.*2T>C)
c.608+217A>G
c.255+217A>G
n.380+217A>G
n.745T>C
n.2661T>C
n.3628T>C
n.2407T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721654T>CCA2674242252GFM2,HEXBc.*1A>G (n.*1A>G)
c.608+218T>C
c.255+218T>C
n.380+218T>C
n.744A>G
n.2660A>G
n.3627A>G
n.2406A>G
 gnomAD v4
5g.74721654T>GCA560368240GFM2,HEXBc.*1A>C (n.*1A>C)
c.608+218T>G
c.255+218T>G
n.380+218T>G
n.744A>C
n.2660A>C
n.3627A>C
n.2406A>C
 dbSNP gnomAD v2 gnomAD v4
5g.74721654T=CA1555784311GFM2,HEXBc.*1A= (n.*1A=)
c.608+218T=
c.255+218T=
n.380+218T=
n.744A=
n.2660A=
n.3627A=
n.2406A=
5g.74721655T>ACA360072215GFM2,HEXBc.2340A>T (p.Ter780Tyr)
c.2199A>T (p.Ter733Tyr)
c.608+219T>A
c.255+219T>A
n.380+219T>A
n.743A>T
c.2436A>T (p.Ter812Tyr)
n.2659A>T
c.2205A>T (p.Ter735Tyr)
n.3626A>T
n.2405A>T
5g.74721655T>CCA3306293GFM2,HEXBc.2340A>G (p.Ter780=)
c.2199A>G (p.Ter733=)
c.608+219T>C
c.255+219T>C
n.380+219T>C
n.743A>G
c.2436A>G (p.Ter812=)
n.2659A>G
c.2205A>G (p.Ter735=)
n.3626A>G
n.2405A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721655T>GCA360072220GFM2,HEXBc.2340A>C (p.Ter780Tyr)
c.2199A>C (p.Ter733Tyr)
c.608+219T>G
c.255+219T>G
n.380+219T>G
n.743A>C
c.2436A>C (p.Ter812Tyr)
n.2659A>C
c.2205A>C (p.Ter735Tyr)
n.3626A>C
n.2405A>C
5g.74721655T=CA1555784312GFM2,HEXBc.2340A= (p.Ter780=)
c.2199A= (p.Ter733=)
c.608+219T=
c.255+219T=
n.380+219T=
n.743A=
c.2436A= (p.Ter812=)
n.2659A=
c.2205A= (p.Ter735=)
n.3626A=
n.2405A=
5g.74721656T>ACA360072223GFM2,HEXBc.2339A>T (p.Ter780Leu)
c.2198A>T (p.Ter733Leu)
c.608+220T>A
c.255+220T>A
n.380+220T>A
n.742A>T
c.2435A>T (p.Ter812Leu)
n.2658A>T
c.2204A>T (p.Ter735Leu)
n.3625A>T
n.2404A>T
5g.74721656T>CCA444849782GFM2,HEXBc.2339A>G (p.Ter780=)
c.2198A>G (p.Ter733=)
c.608+220T>C
c.255+220T>C
n.380+220T>C
n.742A>G
c.2435A>G (p.Ter812=)
n.2658A>G
c.2204A>G (p.Ter735=)
n.3625A>G
n.2404A>G
 gnomAD v4
5g.74721656T>GCA360072224GFM2,HEXBc.2339A>C (p.Ter780Ser)
c.2198A>C (p.Ter733Ser)
c.608+220T>G
c.255+220T>G
n.380+220T>G
n.742A>C
c.2435A>C (p.Ter812Ser)
n.2658A>C
c.2204A>C (p.Ter735Ser)
n.3625A>C
n.2404A>C
5g.74721659_74721726dupCA2674242253GFM2,HEXBc.2272_2339dup (p.Ter780TyrextTer7)
c.2131_2198dup (p.Ter733TyrextTer7)
c.608+223_608+290dup
c.255+223_255+290dup
n.380+223_380+290dup
n.675_742dup
c.2368_2435dup (p.Ter812TyrextTer7)
n.2591_2658dup
c.2137_2204dup (p.Ter735TyrextTer7)
n.3558_3625dup
n.2337_2404dup
 gnomAD v4
5g.74721657A>CCA360072232GFM2,HEXBc.2338T>G (p.Ter780Glu)
c.2197T>G (p.Ter733Glu)
c.608+221A>C
c.255+221A>C
n.380+221A>C
n.741T>G
c.2434T>G (p.Ter812Glu)
n.2657T>G
c.2203T>G (p.Ter735Glu)
n.3624T>G
n.2403T>G
5g.74721657A>GCA360072233GFM2,HEXBc.2338T>C (p.Ter780Gln)
c.2197T>C (p.Ter733Gln)
c.608+221A>G
c.255+221A>G
n.380+221A>G
n.741T>C
c.2434T>C (p.Ter812Gln)
n.2657T>C
c.2203T>C (p.Ter735Gln)
n.3624T>C
n.2403T>C
5g.74721657A>TCA360072235GFM2,HEXBc.2338T>A (p.Ter780Lys)
c.2197T>A (p.Ter733Lys)
c.608+221A>T
c.255+221A>T
n.380+221A>T
n.741T>A
c.2434T>A (p.Ter812Lys)
n.2657T>A
c.2203T>A (p.Ter735Lys)
n.3624T>A
n.2403T>A
5g.74721658G>ACA444849790GFM2,HEXBc.2337C>T (p.Thr779=)
c.2196C>T (p.Thr732=)
c.608+222G>A
c.255+222G>A
n.380+222G>A
n.740C>T
c.2433C>T (p.Thr811=)
n.2656C>T
c.2202C>T (p.Thr734=)
n.3623C>T
n.2402C>T
 dbSNP gnomAD v2 gnomAD v4
5g.74721658G>CCA444849793GFM2,HEXBc.2337C>G (p.Thr779=)
c.2196C>G (p.Thr732=)
c.608+222G>C
c.255+222G>C
n.380+222G>C
n.740C>G
c.2433C>G (p.Thr811=)
n.2656C>G
c.2202C>G (p.Thr734=)
n.3623C>G
n.2402C>G
 gnomAD v4
5g.74721658G=CA1555784313GFM2,HEXBc.2337C= (p.Thr779=)
c.2196C= (p.Thr732=)
c.608+222G=
c.255+222G=
n.380+222G=
n.740C=
c.2433C= (p.Thr811=)
n.2656C=
c.2202C= (p.Thr734=)
n.3623C=
n.2402C=
5g.74721658G>TCA444849795GFM2,HEXBc.2337C>A (p.Thr779=)
c.2196C>A (p.Thr732=)
c.608+222G>T
c.255+222G>T
n.380+222G>T
n.740C>A
c.2433C>A (p.Thr811=)
n.2656C>A
c.2202C>A (p.Thr734=)
n.3623C>A
n.2402C>A
5g.74721659G>ACA360072238GFM2,HEXBc.2336C>T (p.Thr779Ile)
c.2195C>T (p.Thr732Ile)
c.608+223G>A
c.255+223G>A
n.380+223G>A
n.739C>T
c.2432C>T (p.Thr811Ile)
n.2655C>T
c.2201C>T (p.Thr734Ile)
n.3622C>T
n.2401C>T
 dbSNP gnomAD v4
5g.74721659G>CCA360072242GFM2,HEXBc.2336C>G (p.Thr779Ser)
c.2195C>G (p.Thr732Ser)
c.608+223G>C
c.255+223G>C
n.380+223G>C
n.739C>G
c.2432C>G (p.Thr811Ser)
n.2655C>G
c.2201C>G (p.Thr734Ser)
n.3622C>G
n.2401C>G
5g.74721659G=CA1555784314GFM2,HEXBc.2336C= (p.Thr779=)
c.2195C= (p.Thr732=)
c.608+223G=
c.255+223G=
n.380+223G=
n.739C=
c.2432C= (p.Thr811=)
n.2655C=
c.2201C= (p.Thr734=)
n.3622C=
n.2401C=
5g.74721659G>TCA360072245GFM2,HEXBc.2336C>A (p.Thr779Asn)
c.2195C>A (p.Thr732Asn)
c.608+223G>T
c.255+223G>T
n.380+223G>T
n.739C>A
c.2432C>A (p.Thr811Asn)
n.2655C>A
c.2201C>A (p.Thr734Asn)
n.3622C>A
n.2401C>A
 gnomAD v4
5g.74721660T>ACA360072254GFM2,HEXBc.2335A>T (p.Thr779Ser)
c.2194A>T (p.Thr732Ser)
c.608+224T>A
c.255+224T>A
n.380+224T>A
n.738A>T
c.2431A>T (p.Thr811Ser)
n.2654A>T
c.2200A>T (p.Thr734Ser)
n.3621A>T
n.2400A>T
5g.74721660T>CCA360072247GFM2,HEXBc.2335A>G (p.Thr779Ala)
c.2194A>G (p.Thr732Ala)
c.608+224T>C
c.255+224T>C
n.380+224T>C
n.738A>G
c.2431A>G (p.Thr811Ala)
n.2654A>G
c.2200A>G (p.Thr734Ala)
n.3621A>G
n.2400A>G
5g.74721660T>GCA360072251GFM2,HEXBc.2335A>C (p.Thr779Pro)
c.2194A>C (p.Thr732Pro)
c.608+224T>G
c.255+224T>G
n.380+224T>G
n.738A>C
c.2431A>C (p.Thr811Pro)
n.2654A>C
c.2200A>C (p.Thr734Pro)
n.3621A>C
n.2400A>C
5g.74721661C>ACA360072255GFM2,HEXBc.2334G>T (p.Leu778Phe)
c.2193G>T (p.Leu731Phe)
c.608+225C>A
c.255+225C>A
n.380+225C>A
n.737G>T
c.2430G>T (p.Leu810Phe)
n.2653G>T
c.2199G>T (p.Leu733Phe)
n.3620G>T
n.2399G>T
5g.74721661C>GCA360072256GFM2,HEXBc.2334G>C (p.Leu778Phe)
c.2193G>C (p.Leu731Phe)
c.608+225C>G
c.255+225C>G
n.380+225C>G
n.737G>C
c.2430G>C (p.Leu810Phe)
n.2653G>C
c.2199G>C (p.Leu733Phe)
n.3620G>C
n.2399G>C
 COSMIC
5g.74721661C>TCA444849807GFM2,HEXBc.2334G>A (p.Leu778=)
c.2193G>A (p.Leu731=)
c.608+225C>T
c.255+225C>T
n.380+225C>T
n.737G>A
c.2430G>A (p.Leu810=)
n.2653G>A
c.2199G>A (p.Leu733=)
n.3620G>A
n.2399G>A
5g.74721662A>CCA360072257GFM2,HEXBc.2333T>G (p.Leu778Trp)
c.2192T>G (p.Leu731Trp)
c.608+226A>C
c.255+226A>C
n.380+226A>C
n.736T>G
c.2429T>G (p.Leu810Trp)
n.2652T>G
c.2198T>G (p.Leu733Trp)
n.3619T>G
n.2398T>G
5g.74721662A>GCA360072258GFM2,HEXBc.2333T>C (p.Leu778Ser)
c.2192T>C (p.Leu731Ser)
c.608+226A>G
c.255+226A>G
n.380+226A>G
n.736T>C
c.2429T>C (p.Leu810Ser)
n.2652T>C
c.2198T>C (p.Leu733Ser)
n.3619T>C
n.2398T>C
5g.74721662A>TCA360072260GFM2,HEXBc.2333T>A (p.Leu778Ter)
c.2192T>A (p.Leu731Ter)
c.608+226A>T
c.255+226A>T
n.380+226A>T
n.736T>A
c.2429T>A (p.Leu810Ter)
n.2652T>A
c.2198T>A (p.Leu733Ter)
n.3619T>A
n.2398T>A
5g.74721663A>CCA360072264GFM2,HEXBc.2332T>G (p.Leu778Val)
c.2191T>G (p.Leu731Val)
c.608+227A>C
c.255+227A>C
n.380+227A>C
n.735T>G
c.2428T>G (p.Leu810Val)
n.2651T>G
c.2197T>G (p.Leu733Val)
n.3618T>G
n.2397T>G
5g.74721663A>GCA444849814GFM2,HEXBc.2332T>C (p.Leu778=)
c.2191T>C (p.Leu731=)
c.608+227A>G
c.255+227A>G
n.380+227A>G
n.735T>C
c.2428T>C (p.Leu810=)
n.2651T>C
c.2197T>C (p.Leu733=)
n.3618T>C
n.2397T>C
 gnomAD v4
5g.74721663A>TCA360072274GFM2,HEXBc.2332T>A (p.Leu778Met)
c.2191T>A (p.Leu731Met)
c.608+227A>T
c.255+227A>T
n.380+227A>T
n.735T>A
c.2428T>A (p.Leu810Met)
n.2651T>A
c.2197T>A (p.Leu733Met)
n.3618T>A
n.2397T>A
5g.74721664A>CCA444849819GFM2,HEXBc.2331T>G (p.Gly777=)
c.2190T>G (p.Gly730=)
c.608+228A>C
c.255+228A>C
n.380+228A>C
n.734T>G
c.2427T>G (p.Gly809=)
n.2650T>G
c.2196T>G (p.Gly732=)
n.3617T>G
n.2396T>G
5g.74721664A>GCA444849821GFM2,HEXBc.2331T>C (p.Gly777=)
c.2190T>C (p.Gly730=)
c.608+228A>G
c.255+228A>G
n.380+228A>G
n.734T>C
c.2427T>C (p.Gly809=)
n.2650T>C
c.2196T>C (p.Gly732=)
n.3617T>C
n.2396T>C
5g.74721664A>TCA444849823GFM2,HEXBc.2331T>A (p.Gly777=)
c.2190T>A (p.Gly730=)
c.608+228A>T
c.255+228A>T
n.380+228A>T
n.734T>A
c.2427T>A (p.Gly809=)
n.2650T>A
c.2196T>A (p.Gly732=)
n.3617T>A
n.2396T>A
5g.74721665C>ACA360072277GFM2,HEXBc.2330G>T (p.Gly777Val)
c.2189G>T (p.Gly730Val)
c.608+229C>A
c.255+229C>A
n.380+229C>A
n.733G>T
c.2426G>T (p.Gly809Val)
n.2649G>T
c.2195G>T (p.Gly732Val)
n.3616G>T
n.2395G>T
5g.74721665C>GCA360072279GFM2,HEXBc.2330G>C (p.Gly777Ala)
c.2189G>C (p.Gly730Ala)
c.608+229C>G
c.255+229C>G
n.380+229C>G
n.733G>C
c.2426G>C (p.Gly809Ala)
n.2649G>C
c.2195G>C (p.Gly732Ala)
n.3616G>C
n.2395G>C
5g.74721665C>TCA360072282GFM2,HEXBc.2330G>A (p.Gly777Asp)
c.2189G>A (p.Gly730Asp)
c.608+229C>T
c.255+229C>T
n.380+229C>T
n.733G>A
c.2426G>A (p.Gly809Asp)
n.2649G>A
c.2195G>A (p.Gly732Asp)
n.3616G>A
n.2395G>A
5g.74721666C>ACA360072285GFM2,HEXBc.2329G>T (p.Gly777Cys)
c.2188G>T (p.Gly730Cys)
c.608+230C>A
c.255+230C>A
n.380+230C>A
n.732G>T
c.2425G>T (p.Gly809Cys)
n.2648G>T
c.2194G>T (p.Gly732Cys)
n.3615G>T
n.2394G>T
5g.74721666C>GCA360072288GFM2,HEXBc.2329G>C (p.Gly777Arg)
c.2188G>C (p.Gly730Arg)
c.608+230C>G
c.255+230C>G
n.380+230C>G
n.732G>C
c.2425G>C (p.Gly809Arg)
n.2648G>C
c.2194G>C (p.Gly732Arg)
n.3615G>C
n.2394G>C
5g.74721666C>TCA360072291GFM2,HEXBc.2329G>A (p.Gly777Ser)
c.2188G>A (p.Gly730Ser)
c.608+230C>T
c.255+230C>T
n.380+230C>T
n.732G>A
c.2425G>A (p.Gly809Ser)
n.2648G>A
c.2194G>A (p.Gly732Ser)
n.3615G>A
n.2394G>A
5g.74721667A=CA1555784315GFM2,HEXBc.2328T= (p.Ser776=)
c.2187T= (p.Ser729=)
c.608+231A=
c.255+231A=
n.380+231A=
n.731T=
c.2424T= (p.Ser808=)
n.2647T=
c.2193T= (p.Ser731=)
n.3614T=
n.2393T=
5g.74721667A>CCA360072294GFM2,HEXBc.2328T>G (p.Ser776Arg)
c.2187T>G (p.Ser729Arg)
c.608+231A>C
c.255+231A>C
n.380+231A>C
n.731T>G
c.2424T>G (p.Ser808Arg)
n.2647T>G
c.2193T>G (p.Ser731Arg)
n.3614T>G
n.2393T>G
5g.74721667A>GCA444849835GFM2,HEXBc.2328T>C (p.Ser776=)
c.2187T>C (p.Ser729=)
c.608+231A>G
c.255+231A>G
n.380+231A>G
n.731T>C
c.2424T>C (p.Ser808=)
n.2647T>C
c.2193T>C (p.Ser731=)
n.3614T>C
n.2393T>C
 dbSNP gnomAD v4
5g.74721667A>TCA360072296GFM2,HEXBc.2328T>A (p.Ser776Arg)
c.2187T>A (p.Ser729Arg)
c.608+231A>T
c.255+231A>T
n.380+231A>T
n.731T>A
c.2424T>A (p.Ser808Arg)
n.2647T>A
c.2193T>A (p.Ser731Arg)
n.3614T>A
n.2393T>A
5g.74721668C>ACA360072300GFM2,HEXBc.2327G>T (p.Ser776Ile)
c.2186G>T (p.Ser729Ile)
c.608+232C>A
c.255+232C>A
n.380+232C>A
n.730G>T
c.2423G>T (p.Ser808Ile)
n.2646G>T
c.2192G>T (p.Ser731Ile)
n.3613G>T
n.2392G>T
5g.74721668C=CA1555784316GFM2,HEXBc.2327G= (p.Ser776=)
c.2186G= (p.Ser729=)
c.608+232C=
c.255+232C=
n.380+232C=
n.730G=
c.2423G= (p.Ser808=)
n.2646G=
c.2192G= (p.Ser731=)
n.3613G=
n.2392G=
5g.74721668C>GCA360072305GFM2,HEXBc.2327G>C (p.Ser776Thr)
c.2186G>C (p.Ser729Thr)
c.608+232C>G
c.255+232C>G
n.380+232C>G
n.730G>C
c.2423G>C (p.Ser808Thr)
n.2646G>C
c.2192G>C (p.Ser731Thr)
n.3613G>C
n.2392G>C
 dbSNP gnomAD v4
5g.74721668C>TCA360072308GFM2,HEXBc.2327G>A (p.Ser776Asn)
c.2186G>A (p.Ser729Asn)
c.608+232C>T
c.255+232C>T
n.380+232C>T
n.730G>A
c.2423G>A (p.Ser808Asn)
n.2646G>A
c.2192G>A (p.Ser731Asn)
n.3613G>A
n.2392G>A
5g.74721669T>ACA360072311GFM2,HEXBc.2326A>T (p.Ser776Cys)
c.2185A>T (p.Ser729Cys)
c.608+233T>A
c.255+233T>A
n.380+233T>A
n.729A>T
c.2422A>T (p.Ser808Cys)
n.2645A>T
c.2191A>T (p.Ser731Cys)
n.3612A>T
n.2391A>T
5g.74721669T>CCA360072314GFM2,HEXBc.2326A>G (p.Ser776Gly)
c.2185A>G (p.Ser729Gly)
c.608+233T>C
c.255+233T>C
n.380+233T>C
n.729A>G
c.2422A>G (p.Ser808Gly)
n.2645A>G
c.2191A>G (p.Ser731Gly)
n.3612A>G
n.2391A>G
5g.74721669T>GCA360072316GFM2,HEXBc.2326A>C (p.Ser776Arg)
c.2185A>C (p.Ser729Arg)
c.608+233T>G
c.255+233T>G
n.380+233T>G
n.729A>C
c.2422A>C (p.Ser808Arg)
n.2645A>C
c.2191A>C (p.Ser731Arg)
n.3612A>C
n.2391A>C
5g.74721670T>ACA360072318GFM2,HEXBc.2325A>T (p.Arg775Ser)
c.2184A>T (p.Arg728Ser)
c.608+234T>A
c.255+234T>A
n.380+234T>A
n.728A>T
c.2421A>T (p.Arg807Ser)
n.2644A>T
c.2190A>T (p.Arg730Ser)
n.3611A>T
n.2390A>T
5g.74721670T>CCA444849848GFM2,HEXBc.2325A>G (p.Arg775=)
c.2184A>G (p.Arg728=)
c.608+234T>C
c.255+234T>C
n.380+234T>C
n.728A>G
c.2421A>G (p.Arg807=)
n.2644A>G
c.2190A>G (p.Arg730=)
n.3611A>G
n.2390A>G
5g.74721670T>GCA360072320GFM2,HEXBc.2325A>C (p.Arg775Ser)
c.2184A>C (p.Arg728Ser)
c.608+234T>G
c.255+234T>G
n.380+234T>G
n.728A>C
c.2421A>C (p.Arg807Ser)
n.2644A>C
c.2190A>C (p.Arg730Ser)
n.3611A>C
n.2390A>C
5g.74721671C>ACA360072323GFM2,HEXBc.2324G>T (p.Arg775Ile)
c.2183G>T (p.Arg728Ile)
c.608+235C>A
c.255+235C>A
n.380+235C>A
n.727G>T
c.2420G>T (p.Arg807Ile)
n.2643G>T
c.2189G>T (p.Arg730Ile)
n.3610G>T
n.2389G>T
5g.74721671C=CA1555784317GFM2,HEXBc.2324G= (p.Arg775=)
c.2183G= (p.Arg728=)
c.608+235C=
c.255+235C=
n.380+235C=
n.727G=
c.2420G= (p.Arg807=)
n.2643G=
c.2189G= (p.Arg730=)
n.3610G=
n.2389G=
5g.74721671C>GCA360072326GFM2,HEXBc.2324G>C (p.Arg775Thr)
c.2183G>C (p.Arg728Thr)
c.608+235C>G
c.255+235C>G
n.380+235C>G
n.727G>C
c.2420G>C (p.Arg807Thr)
n.2643G>C
c.2189G>C (p.Arg730Thr)
n.3610G>C
n.2389G>C
 dbSNP
5g.74721671C>TCA120908720GFM2,HEXBc.2324G>A (p.Arg775Lys)
c.2183G>A (p.Arg728Lys)
c.608+235C>T
c.255+235C>T
n.380+235C>T
n.727G>A
c.2420G>A (p.Arg807Lys)
n.2643G>A
c.2189G>A (p.Arg730Lys)
n.3610G>A
n.2389G>A
 dbSNP gnomAD v4
5g.74721672_74721674delCA2674242254GFM2,HEXBc.2322_2324del (p.Arg775del)
c.2181_2183del (p.Arg728del)
c.608+236_608+238del
c.255+236_255+238del
n.380+236_380+238del
n.725_727del
c.2418_2420del (p.Arg807del)
n.2641_2643del
c.2187_2189del (p.Arg730del)
n.3608_3610del
n.2387_2389del
 gnomAD v4
5g.74721672T>ACA360072331GFM2,HEXBc.2323A>T (p.Arg775Ter)
c.2182A>T (p.Arg728Ter)
c.608+236T>A
c.255+236T>A
n.380+236T>A
n.726A>T
c.2419A>T (p.Arg807Ter)
n.2642A>T
c.2188A>T (p.Arg730Ter)
n.3609A>T
n.2388A>T
5g.74721672T>CCA360072332GFM2,HEXBc.2323A>G (p.Arg775Gly)
c.2182A>G (p.Arg728Gly)
c.608+236T>C
c.255+236T>C
n.380+236T>C
n.726A>G
c.2419A>G (p.Arg807Gly)
n.2642A>G
c.2188A>G (p.Arg730Gly)
n.3609A>G
n.2388A>G
5g.74721672T>GCA444849858GFM2,HEXBc.2323A>C (p.Arg775=)
c.2182A>C (p.Arg728=)
c.608+236T>G
c.255+236T>G
n.380+236T>G
n.726A>C
c.2419A>C (p.Arg807=)
n.2642A>C
c.2188A>C (p.Arg730=)
n.3609A>C
n.2388A>C
5g.74721673C>ACA444849859GFM2,HEXBc.2322G>T (p.Arg774=)
c.2181G>T (p.Arg727=)
c.608+237C>A
c.255+237C>A
n.380+237C>A
n.725G>T
c.2418G>T (p.Arg806=)
n.2641G>T
c.2187G>T (p.Arg729=)
n.3608G>T
n.2387G>T
5g.74721673C=CA1555784318GFM2,HEXBc.2322G= (p.Arg774=)
c.2181G= (p.Arg727=)
c.608+237C=
c.255+237C=
n.380+237C=
n.725G=
c.2418G= (p.Arg806=)
n.2641G=
c.2187G= (p.Arg729=)
n.3608G=
n.2387G=
5g.74721673C>GCA444849862GFM2,HEXBc.2322G>C (p.Arg774=)
c.2181G>C (p.Arg727=)
c.608+237C>G
c.255+237C>G
n.380+237C>G
n.725G>C
c.2418G>C (p.Arg806=)
n.2641G>C
c.2187G>C (p.Arg729=)
n.3608G>C
n.2387G>C
 dbSNP gnomAD v2 gnomAD v4
5g.74721673C>TCA444849865GFM2,HEXBc.2322G>A (p.Arg774=)
c.2181G>A (p.Arg727=)
c.608+237C>T
c.255+237C>T
n.380+237C>T
n.725G>A
c.2418G>A (p.Arg806=)
n.2641G>A
c.2187G>A (p.Arg729=)
n.3608G>A
n.2387G>A
5g.74721674C>ACA3306294GFM2,HEXBc.2321G>T (p.Arg774Leu)
c.2180G>T (p.Arg727Leu)
c.608+238C>A
c.255+238C>A
n.380+238C>A
n.724G>T
c.2417G>T (p.Arg806Leu)
n.2640G>T
c.2186G>T (p.Arg729Leu)
n.3607G>T
n.2386G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721674C=CA1555784319GFM2,HEXBc.2321G= (p.Arg774=)
c.2180G= (p.Arg727=)
c.608+238C=
c.255+238C=
n.380+238C=
n.724G=
c.2417G= (p.Arg806=)
n.2640G=
c.2186G= (p.Arg729=)
n.3607G=
n.2386G=
5g.74721674C>GCA360072337GFM2,HEXBc.2321G>C (p.Arg774Pro)
c.2180G>C (p.Arg727Pro)
c.608+238C>G
c.255+238C>G
n.380+238C>G
n.724G>C
c.2417G>C (p.Arg806Pro)
n.2640G>C
c.2186G>C (p.Arg729Pro)
n.3607G>C
n.2386G>C
5g.74721674C>TCA291087GFM2,HEXBc.2321G>A (p.Arg774Gln)
c.2180G>A (p.Arg727Gln)
c.608+238C>T
c.255+238C>T
n.380+238C>T
n.724G>A
c.2417G>A (p.Arg806Gln)
n.2640G>A
c.2186G>A (p.Arg729Gln)
n.3607G>A
n.2386G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721675G>ACA3306295GFM2,HEXBc.2320C>T (p.Arg774Trp)
c.2179C>T (p.Arg727Trp)
c.608+239G>A
c.255+239G>A
n.380+239G>A
n.723C>T
c.2416C>T (p.Arg806Trp)
n.2639C>T
c.2185C>T (p.Arg729Trp)
n.3606C>T
n.2385C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721675G>CCA360072340GFM2,HEXBc.2320C>G (p.Arg774Gly)
c.2179C>G (p.Arg727Gly)
c.608+239G>C
c.255+239G>C
n.380+239G>C
n.723C>G
c.2416C>G (p.Arg806Gly)
n.2639C>G
c.2185C>G (p.Arg729Gly)
n.3606C>G
n.2385C>G
5g.74721675G=CA1555784320GFM2,HEXBc.2320C= (p.Arg774=)
c.2179C= (p.Arg727=)
c.608+239G=
c.255+239G=
n.380+239G=
n.723C=
c.2416C= (p.Arg806=)
n.2639C=
c.2185C= (p.Arg729=)
n.3606C=
n.2385C=
5g.74721675G>TCA444849871GFM2,HEXBc.2320C>A (p.Arg774=)
c.2179C>A (p.Arg727=)
c.608+239G>T
c.255+239G>T
n.380+239G>T
n.723C>A
c.2416C>A (p.Arg806=)
n.2639C>A
c.2185C>A (p.Arg729=)
n.3606C>A
n.2385C>A
5g.74721676G>ACA444849877GFM2,HEXBc.2319C>T (p.Asn773=)
c.2178C>T (p.Asn726=)
c.608+240G>A
c.255+240G>A
n.380+240G>A
n.722C>T
c.2415C>T (p.Asn805=)
n.2638C>T
c.2184C>T (p.Asn728=)
n.3605C>T
n.2384C>T
5g.74721676G>CCA360072344GFM2,HEXBc.2319C>G (p.Asn773Lys)
c.2178C>G (p.Asn726Lys)
c.608+240G>C
c.255+240G>C
n.380+240G>C
n.722C>G
c.2415C>G (p.Asn805Lys)
n.2638C>G
c.2184C>G (p.Asn728Lys)
n.3605C>G
n.2384C>G
5g.74721676G>TCA360072346GFM2,HEXBc.2319C>A (p.Asn773Lys)
c.2178C>A (p.Asn726Lys)
c.608+240G>T
c.255+240G>T
n.380+240G>T
n.722C>A
c.2415C>A (p.Asn805Lys)
n.2638C>A
c.2184C>A (p.Asn728Lys)
n.3605C>A
n.2384C>A
5g.74721677_74721701dupCA1555784321GFM2,HEXBc.2295_2319dup (p.Arg774SerfsTer28)
c.2154_2178dup (p.Arg727SerfsTer28)
c.608+241_608+265dup
c.255+241_255+265dup
n.380+241_380+265dup
n.698_722dup
c.2391_2415dup (p.Arg806SerfsTer28)
n.2614_2638dup
c.2160_2184dup (p.Arg729SerfsTer28)
n.3581_3605dup
n.2360_2384dup
 dbSNP gnomAD v4
5g.74721677T>ACA360072354GFM2,HEXBc.2318A>T (p.Asn773Ile)
c.2177A>T (p.Asn726Ile)
c.608+241T>A
c.255+241T>A
n.380+241T>A
n.721A>T
c.2414A>T (p.Asn805Ile)
n.2637A>T
c.2183A>T (p.Asn728Ile)
n.3604A>T
n.2383A>T
 gnomAD v4
5g.74721677T>CCA360072351GFM2,HEXBc.2318A>G (p.Asn773Ser)
c.2177A>G (p.Asn726Ser)
c.608+241T>C
c.255+241T>C
n.380+241T>C
n.721A>G
c.2414A>G (p.Asn805Ser)
n.2637A>G
c.2183A>G (p.Asn728Ser)
n.3604A>G
n.2383A>G
 gnomAD v4
5g.74721677T>GCA360072349GFM2,HEXBc.2318A>C (p.Asn773Thr)
c.2177A>C (p.Asn726Thr)
c.608+241T>G
c.255+241T>G
n.380+241T>G
n.721A>C
c.2414A>C (p.Asn805Thr)
n.2637A>C
c.2183A>C (p.Asn728Thr)
n.3604A>C
n.2383A>C
5g.74721678T>ACA360072358GFM2,HEXBc.2317A>T (p.Asn773Tyr)
c.2176A>T (p.Asn726Tyr)
c.608+242T>A
c.255+242T>A
n.380+242T>A
n.720A>T
c.2413A>T (p.Asn805Tyr)
n.2636A>T
c.2182A>T (p.Asn728Tyr)
n.3603A>T
n.2382A>T
5g.74721678T>CCA360072361GFM2,HEXBc.2317A>G (p.Asn773Asp)
c.2176A>G (p.Asn726Asp)
c.608+242T>C
c.255+242T>C
n.380+242T>C
n.720A>G
c.2413A>G (p.Asn805Asp)
n.2636A>G
c.2182A>G (p.Asn728Asp)
n.3603A>G
n.2382A>G
5g.74721678T>GCA360072363GFM2,HEXBc.2317A>C (p.Asn773His)
c.2176A>C (p.Asn726His)
c.608+242T>G
c.255+242T>G
n.380+242T>G
n.720A>C
c.2413A>C (p.Asn805His)
n.2636A>C
c.2182A>C (p.Asn728His)
n.3603A>C
n.2382A>C
5g.74721679G>ACA444849890GFM2,HEXBc.2316C>T (p.Leu772=)
c.2175C>T (p.Leu725=)
c.608+243G>A
c.255+243G>A
n.380+243G>A
n.719C>T
c.2412C>T (p.Leu804=)
n.2635C>T
c.2181C>T (p.Leu727=)
n.3602C>T
n.2381C>T
5g.74721679G>CCA444849891GFM2,HEXBc.2316C>G (p.Leu772=)
c.2175C>G (p.Leu725=)
c.608+243G>C
c.255+243G>C
n.380+243G>C
n.719C>G
c.2412C>G (p.Leu804=)
n.2635C>G
c.2181C>G (p.Leu727=)
n.3602C>G
n.2381C>G
5g.74721679G>TCA444849893GFM2,HEXBc.2316C>A (p.Leu772=)
c.2175C>A (p.Leu725=)
c.608+243G>T
c.255+243G>T
n.380+243G>T
n.719C>A
c.2412C>A (p.Leu804=)
n.2635C>A
c.2181C>A (p.Leu727=)
n.3602C>A
n.2381C>A
 gnomAD v4
5g.74721679dupCA2767029865GFM2,HEXBc.2316dup (p.Asn773GlnfsTer21)
c.2175dup (p.Asn726GlnfsTer21)
c.608+243dup
c.255+243dup
n.380+243dup
n.719dup
c.2412dup (p.Asn805GlnfsTer21)
n.2635dup
c.2181dup (p.Asn728GlnfsTer21)
n.3602dup
n.2381dup
5g.74721680A>CCA360072368GFM2,HEXBc.2315T>G (p.Leu772Arg)
c.2174T>G (p.Leu725Arg)
c.608+244A>C
c.255+244A>C
n.380+244A>C
n.718T>G
c.2411T>G (p.Leu804Arg)
n.2634T>G
c.2180T>G (p.Leu727Arg)
n.3601T>G
n.2380T>G
5g.74721680A>GCA360072371GFM2,HEXBc.2315T>C (p.Leu772Pro)
c.2174T>C (p.Leu725Pro)
c.608+244A>G
c.255+244A>G
n.380+244A>G
n.718T>C
c.2411T>C (p.Leu804Pro)
n.2634T>C
c.2180T>C (p.Leu727Pro)
n.3601T>C
n.2380T>C
5g.74721680A>TCA360072374GFM2,HEXBc.2315T>A (p.Leu772His)
c.2174T>A (p.Leu725His)
c.608+244A>T
c.255+244A>T
n.380+244A>T
n.718T>A
c.2411T>A (p.Leu804His)
n.2634T>A
c.2180T>A (p.Leu727His)
n.3601T>A
n.2380T>A
5g.74721681G>ACA3306296GFM2,HEXBc.2314C>T (p.Leu772Phe)
c.2173C>T (p.Leu725Phe)
c.608+245G>A
c.255+245G>A
n.380+245G>A
n.717C>T
c.2410C>T (p.Leu804Phe)
n.2633C>T
c.2179C>T (p.Leu727Phe)
n.3600C>T
n.2379C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721681G>CCA360072383GFM2,HEXBc.2314C>G (p.Leu772Val)
c.2173C>G (p.Leu725Val)
c.608+245G>C
c.255+245G>C
n.380+245G>C
n.717C>G
c.2410C>G (p.Leu804Val)
n.2633C>G
c.2179C>G (p.Leu727Val)
n.3600C>G
n.2379C>G
5g.74721681G=CA1555784322GFM2,HEXBc.2314C= (p.Leu772=)
c.2173C= (p.Leu725=)
c.608+245G=
c.255+245G=
n.380+245G=
n.717C=
c.2410C= (p.Leu804=)
n.2633C=
c.2179C= (p.Leu727=)
n.3600C=
n.2379C=
5g.74721681G>TCA360072379GFM2,HEXBc.2314C>A (p.Leu772Ile)
c.2173C>A (p.Leu725Ile)
c.608+245G>T
c.255+245G>T
n.380+245G>T
n.717C>A
c.2410C>A (p.Leu804Ile)
n.2633C>A
c.2179C>A (p.Leu727Ile)
n.3600C>A
n.2379C>A
5g.74721682C>ACA444849904GFM2,HEXBc.2313G>T (p.Leu771=)
c.2172G>T (p.Leu724=)
c.608+246C>A
c.255+246C>A
n.380+246C>A
n.716G>T
c.2409G>T (p.Leu803=)
n.2632G>T
c.2178G>T (p.Leu726=)
n.3599G>T
n.2378G>T
5g.74721682C>GCA444849906GFM2,HEXBc.2313G>C (p.Leu771=)
c.2172G>C (p.Leu724=)
c.608+246C>G
c.255+246C>G
n.380+246C>G
n.716G>C
c.2409G>C (p.Leu803=)
n.2632G>C
c.2178G>C (p.Leu726=)
n.3599G>C
n.2378G>C
5g.74721682C>TCA444849910GFM2,HEXBc.2313G>A (p.Leu771=)
c.2172G>A (p.Leu724=)
c.608+246C>T
c.255+246C>T
n.380+246C>T
n.716G>A
c.2409G>A (p.Leu803=)
n.2632G>A
c.2178G>A (p.Leu726=)
n.3599G>A
n.2378G>A
5g.74721683A>CCA360072387GFM2,HEXBc.2312T>G (p.Leu771Arg)
c.2171T>G (p.Leu724Arg)
c.608+247A>C
c.255+247A>C
n.380+247A>C
n.715T>G
c.2408T>G (p.Leu803Arg)
n.2631T>G
c.2177T>G (p.Leu726Arg)
n.3598T>G
n.2377T>G
5g.74721683A>GCA360072393GFM2,HEXBc.2312T>C (p.Leu771Pro)
c.2171T>C (p.Leu724Pro)
c.608+247A>G
c.255+247A>G
n.380+247A>G
n.715T>C
c.2408T>C (p.Leu803Pro)
n.2631T>C
c.2177T>C (p.Leu726Pro)
n.3598T>C
n.2377T>C
5g.74721683A>TCA360072390GFM2,HEXBc.2312T>A (p.Leu771Gln)
c.2171T>A (p.Leu724Gln)
c.608+247A>T
c.255+247A>T
n.380+247A>T
n.715T>A
c.2408T>A (p.Leu803Gln)
n.2631T>A
c.2177T>A (p.Leu726Gln)
n.3598T>A
n.2377T>A
5g.74721684G>ACA444849913GFM2,HEXBc.2311C>T (p.Leu771=)
c.2170C>T (p.Leu724=)
c.608+248G>A
c.255+248G>A
n.380+248G>A
n.714C>T
c.2407C>T (p.Leu803=)
n.2630C>T
c.2176C>T (p.Leu726=)
n.3597C>T
n.2376C>T
 dbSNP gnomAD v3 gnomAD v4
5g.74721684G>CCA360072395GFM2,HEXBc.2311C>G (p.Leu771Val)
c.2170C>G (p.Leu724Val)
c.608+248G>C
c.255+248G>C
n.380+248G>C
n.714C>G
c.2407C>G (p.Leu803Val)
n.2630C>G
c.2176C>G (p.Leu726Val)
n.3597C>G
n.2376C>G
5g.74721684G=CA1555784323GFM2,HEXBc.2311C= (p.Leu771=)
c.2170C= (p.Leu724=)
c.608+248G=
c.255+248G=
n.380+248G=
n.714C=
c.2407C= (p.Leu803=)
n.2630C=
c.2176C= (p.Leu726=)
n.3597C=
n.2376C=
5g.74721684G>TCA360072397GFM2,HEXBc.2311C>A (p.Leu771Met)
c.2170C>A (p.Leu724Met)
c.608+248G>T
c.255+248G>T
n.380+248G>T
n.714C>A
c.2407C>A (p.Leu803Met)
n.2630C>A
c.2176C>A (p.Leu726Met)
n.3597C>A
n.2376C>A
5g.74721685T>ACA444849918GFM2,HEXBc.2310A>T (p.Thr770=)
c.2169A>T (p.Thr723=)
c.608+249T>A
c.255+249T>A
n.380+249T>A
n.713A>T
c.2406A>T (p.Thr802=)
n.2629A>T
c.2175A>T (p.Thr725=)
n.3596A>T
n.2375A>T
5g.74721685T>CCA444849920GFM2,HEXBc.2310A>G (p.Thr770=)
c.2169A>G (p.Thr723=)
c.608+249T>C
c.255+249T>C
n.380+249T>C
n.713A>G
c.2406A>G (p.Thr802=)
n.2629A>G
c.2175A>G (p.Thr725=)
n.3596A>G
n.2375A>G
 gnomAD v4
5g.74721685T>GCA444849923GFM2,HEXBc.2310A>C (p.Thr770=)
c.2169A>C (p.Thr723=)
c.608+249T>G
c.255+249T>G
n.380+249T>G
n.713A>C
c.2406A>C (p.Thr802=)
n.2629A>C
c.2175A>C (p.Thr725=)
n.3596A>C
n.2375A>C
5g.74721686G>ACA3306297GFM2,HEXBc.2309C>T (p.Thr770Ile)
c.2168C>T (p.Thr723Ile)
c.608+250G>A
c.255+250G>A
n.380+250G>A
n.712C>T
c.2405C>T (p.Thr802Ile)
n.2628C>T
c.2174C>T (p.Thr725Ile)
n.3595C>T
n.2374C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721686G>CCA360072401GFM2,HEXBc.2309C>G (p.Thr770Arg)
c.2168C>G (p.Thr723Arg)
c.608+250G>C
c.255+250G>C
n.380+250G>C
n.712C>G
c.2405C>G (p.Thr802Arg)
n.2628C>G
c.2174C>G (p.Thr725Arg)
n.3595C>G
n.2374C>G
 gnomAD v4
5g.74721686G=CA1555784324GFM2,HEXBc.2309C= (p.Thr770=)
c.2168C= (p.Thr723=)
c.608+250G=
c.255+250G=
n.380+250G=
n.712C=
c.2405C= (p.Thr802=)
n.2628C=
c.2174C= (p.Thr725=)
n.3595C=
n.2374C=
5g.74721686G>TCA360072404GFM2,HEXBc.2309C>A (p.Thr770Lys)
c.2168C>A (p.Thr723Lys)
c.608+250G>T
c.255+250G>T
n.380+250G>T
n.712C>A
c.2405C>A (p.Thr802Lys)
n.2628C>A
c.2174C>A (p.Thr725Lys)
n.3595C>A
n.2374C>A
5g.74721687T>ACA360072408GFM2,HEXBc.2308A>T (p.Thr770Ser)
c.2167A>T (p.Thr723Ser)
c.608+251T>A
c.255+251T>A
n.380+251T>A
n.711A>T
c.2404A>T (p.Thr802Ser)
n.2627A>T
c.2173A>T (p.Thr725Ser)
n.3594A>T
n.2373A>T
5g.74721687T>CCA360072410GFM2,HEXBc.2308A>G (p.Thr770Ala)
c.2167A>G (p.Thr723Ala)
c.608+251T>C
c.255+251T>C
n.380+251T>C
n.711A>G
c.2404A>G (p.Thr802Ala)
n.2627A>G
c.2173A>G (p.Thr725Ala)
n.3594A>G
n.2373A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721687T>GCA360072412GFM2,HEXBc.2308A>C (p.Thr770Pro)
c.2167A>C (p.Thr723Pro)
c.608+251T>G
c.255+251T>G
n.380+251T>G
n.711A>C
c.2404A>C (p.Thr802Pro)
n.2627A>C
c.2173A>C (p.Thr725Pro)
n.3594A>C
n.2373A>C
5g.74721687T=CA1555784325GFM2,HEXBc.2308A= (p.Thr770=)
c.2167A= (p.Thr723=)
c.608+251T=
c.255+251T=
n.380+251T=
n.711A=
c.2404A= (p.Thr802=)
n.2627A=
c.2173A= (p.Thr725=)
n.3594A=
n.2373A=
5g.74721687dupCA3306298GFM2,HEXBc.2308dup (p.Thr770AsnfsTer24)
c.2167dup (p.Thr723AsnfsTer24)
c.608+251dup
c.255+251dup
n.380+251dup
n.711dup
c.2404dup (p.Thr802AsnfsTer24)
n.2627dup
c.2173dup (p.Thr725AsnfsTer24)
n.3594dup
n.2373dup
 dbSNP ExAC gnomAD v2
5g.74721688A>CCA360072415GFM2,HEXBc.2307T>G (p.Asn769Lys)
c.2166T>G (p.Asn722Lys)
c.608+252A>C
c.255+252A>C
n.380+252A>C
n.710T>G
c.2403T>G (p.Asn801Lys)
n.2626T>G
c.2172T>G (p.Asn724Lys)
n.3593T>G
n.2372T>G
5g.74721688A>GCA444849931GFM2,HEXBc.2307T>C (p.Asn769=)
c.2166T>C (p.Asn722=)
c.608+252A>G
c.255+252A>G
n.380+252A>G
n.710T>C
c.2403T>C (p.Asn801=)
n.2626T>C
c.2172T>C (p.Asn724=)
n.3593T>C
n.2372T>C
5g.74721688A>TCA360072417GFM2,HEXBc.2307T>A (p.Asn769Lys)
c.2166T>A (p.Asn722Lys)
c.608+252A>T
c.255+252A>T
n.380+252A>T
n.710T>A
c.2403T>A (p.Asn801Lys)
n.2626T>A
c.2172T>A (p.Asn724Lys)
n.3593T>A
n.2372T>A
5g.74721689T>ACA120908733GFM2,HEXBc.2306A>T (p.Asn769Ile)
c.2165A>T (p.Asn722Ile)
c.608+253T>A
c.255+253T>A
n.380+253T>A
n.709A>T
c.2402A>T (p.Asn801Ile)
n.2625A>T
c.2171A>T (p.Asn724Ile)
n.3592A>T
n.2371A>T
 dbSNP gnomAD v4
5g.74721689T>CCA360072423GFM2,HEXBc.2306A>G (p.Asn769Ser)
c.2165A>G (p.Asn722Ser)
c.608+253T>C
c.255+253T>C
n.380+253T>C
n.709A>G
c.2402A>G (p.Asn801Ser)
n.2625A>G
c.2171A>G (p.Asn724Ser)
n.3592A>G
n.2371A>G
5g.74721689T>GCA360072421GFM2,HEXBc.2306A>C (p.Asn769Thr)
c.2165A>C (p.Asn722Thr)
c.608+253T>G
c.255+253T>G
n.380+253T>G
n.709A>C
c.2402A>C (p.Asn801Thr)
n.2625A>C
c.2171A>C (p.Asn724Thr)
n.3592A>C
n.2371A>C
5g.74721689T=CA1555784326GFM2,HEXBc.2306A= (p.Asn769=)
c.2165A= (p.Asn722=)
c.608+253T=
c.255+253T=
n.380+253T=
n.709A=
c.2402A= (p.Asn801=)
n.2625A=
c.2171A= (p.Asn724=)
n.3592A=
n.2371A=
5g.74721690T>ACA360072428GFM2,HEXBc.2305A>T (p.Asn769Tyr)
c.2164A>T (p.Asn722Tyr)
c.608+254T>A
c.255+254T>A
n.380+254T>A
n.708A>T
c.2401A>T (p.Asn801Tyr)
n.2624A>T
c.2170A>T (p.Asn724Tyr)
n.3591A>T
n.2370A>T
5g.74721690T>CCA3306299GFM2,HEXBc.2305A>G (p.Asn769Asp)
c.2164A>G (p.Asn722Asp)
c.608+254T>C
c.255+254T>C
n.380+254T>C
n.708A>G
c.2401A>G (p.Asn801Asp)
n.2624A>G
c.2170A>G (p.Asn724Asp)
n.3591A>G
n.2370A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721690T>GCA360072429GFM2,HEXBc.2305A>C (p.Asn769His)
c.2164A>C (p.Asn722His)
c.608+254T>G
c.255+254T>G
n.380+254T>G
n.708A>C
c.2401A>C (p.Asn801His)
n.2624A>C
c.2170A>C (p.Asn724His)
n.3591A>C
n.2370A>C
5g.74721690T=CA1555784327GFM2,HEXBc.2305A= (p.Asn769=)
c.2164A= (p.Asn722=)
c.608+254T=
c.255+254T=
n.380+254T=
n.708A=
c.2401A= (p.Asn801=)
n.2624A=
c.2170A= (p.Asn724=)
n.3591A=
n.2370A=
5g.74721691T>ACA360072430GFM2,HEXBc.2304A>T (p.Gln768His)
c.2163A>T (p.Gln721His)
c.608+255T>A
c.255+255T>A
n.380+255T>A
n.707A>T
c.2400A>T (p.Gln800His)
n.2623A>T
c.2169A>T (p.Gln723His)
n.3590A>T
n.2369A>T
5g.74721691T>CCA444849947GFM2,HEXBc.2304A>G (p.Gln768=)
c.2163A>G (p.Gln721=)
c.608+255T>C
c.255+255T>C
n.380+255T>C
n.707A>G
c.2400A>G (p.Gln800=)
n.2623A>G
c.2169A>G (p.Gln723=)
n.3590A>G
n.2369A>G
5g.74721691T>GCA360072431GFM2,HEXBc.2304A>C (p.Gln768His)
c.2163A>C (p.Gln721His)
c.608+255T>G
c.255+255T>G
n.380+255T>G
n.707A>C
c.2400A>C (p.Gln800His)
n.2623A>C
c.2169A>C (p.Gln723His)
n.3590A>C
n.2369A>C
5g.74721692_74721730dupCA3306300GFM2,HEXBc.2266_2304dup (p.Gln768_Asn769insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
c.2125_2163dup (p.Gln721_Asn722insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
c.608+256_608+294dup
c.255+256_255+294dup
n.380+256_380+294dup
n.669_707dup
c.2362_2400dup (p.Gln800_Asn801insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
n.2585_2623dup
c.2131_2169dup (p.Gln723_Asn724insGluLeuSerThrTyrGlnAlaMetAsnProGlnAspGln)
n.3552_3590dup
n.2331_2369dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721692T>ACA360072437GFM2,HEXBc.2303A>T (p.Gln768Leu)
c.2162A>T (p.Gln721Leu)
c.608+256T>A
c.255+256T>A
n.380+256T>A
n.706A>T
c.2399A>T (p.Gln800Leu)
n.2622A>T
c.2168A>T (p.Gln723Leu)
n.3589A>T
n.2368A>T
5g.74721692T>CCA360072440GFM2,HEXBc.2303A>G (p.Gln768Arg)
c.2162A>G (p.Gln721Arg)
c.608+256T>C
c.255+256T>C
n.380+256T>C
n.706A>G
c.2399A>G (p.Gln800Arg)
n.2622A>G
c.2168A>G (p.Gln723Arg)
n.3589A>G
n.2368A>G
5g.74721692T>GCA360072442GFM2,HEXBc.2303A>C (p.Gln768Pro)
c.2162A>C (p.Gln721Pro)
c.608+256T>G
c.255+256T>G
n.380+256T>G
n.706A>C
c.2399A>C (p.Gln800Pro)
n.2622A>C
c.2168A>C (p.Gln723Pro)
n.3589A>C
n.2368A>C
5g.74721692_74721701dupCA2674242258GFM2,HEXBc.2294_2303dup (p.Gln768HisfsTer29)
c.2153_2162dup (p.Gln721HisfsTer29)
c.608+256_608+265dup
c.255+256_255+265dup
n.380+256_380+265dup
n.697_706dup
c.2390_2399dup (p.Gln800HisfsTer29)
n.2613_2622dup
c.2159_2168dup (p.Gln723HisfsTer29)
n.3580_3589dup
n.2359_2368dup
 gnomAD v4
5g.74721693G>ACA360072447GFM2,HEXBc.2302C>T (p.Gln768Ter)
c.2161C>T (p.Gln721Ter)
c.608+257G>A
c.255+257G>A
n.380+257G>A
n.705C>T
c.2398C>T (p.Gln800Ter)
n.2621C>T
c.2167C>T (p.Gln723Ter)
n.3588C>T
n.2367C>T
 gnomAD v4
5g.74721693G>CCA360072451GFM2,HEXBc.2302C>G (p.Gln768Glu)
c.2161C>G (p.Gln721Glu)
c.608+257G>C
c.255+257G>C
n.380+257G>C
n.705C>G
c.2398C>G (p.Gln800Glu)
n.2621C>G
c.2167C>G (p.Gln723Glu)
n.3588C>G
n.2367C>G
 gnomAD v4
5g.74721693G>TCA360072455GFM2,HEXBc.2302C>A (p.Gln768Lys)
c.2161C>A (p.Gln721Lys)
c.608+257G>T
c.255+257G>T
n.380+257G>T
n.705C>A
c.2398C>A (p.Gln800Lys)
n.2621C>A
c.2167C>A (p.Gln723Lys)
n.3588C>A
n.2367C>A
 gnomAD v4
5g.74721694A>CCA360072461GFM2,HEXBc.2301T>G (p.Asp767Glu)
c.2160T>G (p.Asp720Glu)
c.608+258A>C
c.255+258A>C
n.380+258A>C
n.704T>G
c.2397T>G (p.Asp799Glu)
n.2620T>G
c.2166T>G (p.Asp722Glu)
n.3587T>G
n.2366T>G
5g.74721694A>GCA444849959GFM2,HEXBc.2301T>C (p.Asp767=)
c.2160T>C (p.Asp720=)
c.608+258A>G
c.255+258A>G
n.380+258A>G
n.704T>C
c.2397T>C (p.Asp799=)
n.2620T>C
c.2166T>C (p.Asp722=)
n.3587T>C
n.2366T>C
 gnomAD v4
5g.74721694A>TCA360072458GFM2,HEXBc.2301T>A (p.Asp767Glu)
c.2160T>A (p.Asp720Glu)
c.608+258A>T
c.255+258A>T
n.380+258A>T
n.704T>A
c.2397T>A (p.Asp799Glu)
n.2620T>A
c.2166T>A (p.Asp722Glu)
n.3587T>A
n.2366T>A
5g.74721694_74721718dupCA2674242261GFM2,HEXBc.2277_2301dup (p.Gln768LeufsTer34)
c.2136_2160dup (p.Gln721LeufsTer34)
c.608+258_608+282dup
c.255+258_255+282dup
n.380+258_380+282dup
n.680_704dup
c.2373_2397dup (p.Gln800LeufsTer34)
n.2596_2620dup
c.2142_2166dup (p.Gln723LeufsTer34)
n.3563_3587dup
n.2342_2366dup
 gnomAD v4
5g.74721695T>ACA360072466GFM2,HEXBc.2300A>T (p.Asp767Val)
c.2159A>T (p.Asp720Val)
c.608+259T>A
c.255+259T>A
n.380+259T>A
n.703A>T
c.2396A>T (p.Asp799Val)
n.2619A>T
c.2165A>T (p.Asp722Val)
n.3586A>T
n.2365A>T
 dbSNP
5g.74721695T>CCA360072470GFM2,HEXBc.2300A>G (p.Asp767Gly)
c.2159A>G (p.Asp720Gly)
c.608+259T>C
c.255+259T>C
n.380+259T>C
n.703A>G
c.2396A>G (p.Asp799Gly)
n.2619A>G
c.2165A>G (p.Asp722Gly)
n.3586A>G
n.2365A>G
5g.74721695T>GCA360072474GFM2,HEXBc.2300A>C (p.Asp767Ala)
c.2159A>C (p.Asp720Ala)
c.608+259T>G
c.255+259T>G
n.380+259T>G
n.703A>C
c.2396A>C (p.Asp799Ala)
n.2619A>C
c.2165A>C (p.Asp722Ala)
n.3586A>C
n.2365A>C
5g.74721695T=CA1555784328GFM2,HEXBc.2300A= (p.Asp767=)
c.2159A= (p.Asp720=)
c.608+259T=
c.255+259T=
n.380+259T=
n.703A=
c.2396A= (p.Asp799=)
n.2619A=
c.2165A= (p.Asp722=)
n.3586A=
n.2365A=
5g.74721696C>ACA360072482GFM2,HEXBc.2299G>T (p.Asp767Tyr)
c.2158G>T (p.Asp720Tyr)
c.608+260C>A
c.255+260C>A
n.380+260C>A
n.702G>T
c.2395G>T (p.Asp799Tyr)
n.2618G>T
c.2164G>T (p.Asp722Tyr)
n.3585G>T
n.2364G>T
5g.74721696C>GCA360072485GFM2,HEXBc.2299G>C (p.Asp767His)
c.2158G>C (p.Asp720His)
c.608+260C>G
c.255+260C>G
n.380+260C>G
n.702G>C
c.2395G>C (p.Asp799His)
n.2618G>C
c.2164G>C (p.Asp722His)
n.3585G>C
n.2364G>C
5g.74721696C>TCA360072488GFM2,HEXBc.2299G>A (p.Asp767Asn)
c.2158G>A (p.Asp720Asn)
c.608+260C>T
c.255+260C>T
n.380+260C>T
n.702G>A
c.2395G>A (p.Asp799Asn)
n.2618G>A
c.2164G>A (p.Asp722Asn)
n.3585G>A
n.2364G>A
5g.74721697T>ACA360072497GFM2,HEXBc.2298A>T (p.Gln766His)
c.2157A>T (p.Gln719His)
c.608+261T>A
c.255+261T>A
n.380+261T>A
n.701A>T
c.2394A>T (p.Gln798His)
n.2617A>T
c.2163A>T (p.Gln721His)
n.3584A>T
n.2363A>T
5g.74721697T>CCA120908740GFM2,HEXBc.2298A>G (p.Gln766=)
c.2157A>G (p.Gln719=)
c.608+261T>C
c.255+261T>C
n.380+261T>C
n.701A>G
c.2394A>G (p.Gln798=)
n.2617A>G
c.2163A>G (p.Gln721=)
n.3584A>G
n.2363A>G
 dbSNP
5g.74721697T>GCA360072493GFM2,HEXBc.2298A>C (p.Gln766His)
c.2157A>C (p.Gln719His)
c.608+261T>G
c.255+261T>G
n.380+261T>G
n.701A>C
c.2394A>C (p.Gln798His)
n.2617A>C
c.2163A>C (p.Gln721His)
n.3584A>C
n.2363A>C
5g.74721697T=CA1555784329GFM2,HEXBc.2298A= (p.Gln766=)
c.2157A= (p.Gln719=)
c.608+261T=
c.255+261T=
n.380+261T=
n.701A=
c.2394A= (p.Gln798=)
n.2617A=
c.2163A= (p.Gln721=)
n.3584A=
n.2363A=
5g.74721697_74721698insACA1555784330GFM2,HEXBc.2297_2298insT (p.Gln766HisfsTer28)
c.2156_2157insT (p.Gln719HisfsTer28)
c.608+261_608+262insA
c.255+261_255+262insA
n.380+261_380+262insA
n.700_701insT
c.2393_2394insT (p.Gln798HisfsTer28)
n.2616_2617insT
c.2162_2163insT (p.Gln721HisfsTer28)
n.3583_3584insT
n.2362_2363insT
 dbSNP gnomAD v4
5g.74721698T>ACA360072500GFM2,HEXBc.2297A>T (p.Gln766Leu)
c.2156A>T (p.Gln719Leu)
c.608+262T>A
c.255+262T>A
n.380+262T>A
n.700A>T
c.2393A>T (p.Gln798Leu)
n.2616A>T
c.2162A>T (p.Gln721Leu)
n.3583A>T
n.2362A>T
5g.74721698T>CCA3306301GFM2,HEXBc.2297A>G (p.Gln766Arg)
c.2156A>G (p.Gln719Arg)
c.608+262T>C
c.255+262T>C
n.380+262T>C
n.700A>G
c.2393A>G (p.Gln798Arg)
n.2616A>G
c.2162A>G (p.Gln721Arg)
n.3583A>G
n.2362A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721698T>GCA360072505GFM2,HEXBc.2297A>C (p.Gln766Pro)
c.2156A>C (p.Gln719Pro)
c.608+262T>G
c.255+262T>G
n.380+262T>G
n.700A>C
c.2393A>C (p.Gln798Pro)
n.2616A>C
c.2162A>C (p.Gln721Pro)
n.3583A>C
n.2362A>C
 gnomAD v4
5g.74721698T=CA1555784331GFM2,HEXBc.2297A= (p.Gln766=)
c.2156A= (p.Gln719=)
c.608+262T=
c.255+262T=
n.380+262T=
n.700A=
c.2393A= (p.Gln798=)
n.2616A=
c.2162A= (p.Gln721=)
n.3583A=
n.2362A=
5g.74721699G>ACA360072510GFM2,HEXBc.2296C>T (p.Gln766Ter)
c.2155C>T (p.Gln719Ter)
c.608+263G>A
c.255+263G>A
n.380+263G>A
n.699C>T
c.2392C>T (p.Gln798Ter)
n.2615C>T
c.2161C>T (p.Gln721Ter)
n.3582C>T
n.2361C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721699G>CCA360072516GFM2,HEXBc.2296C>G (p.Gln766Glu)
c.2155C>G (p.Gln719Glu)
c.608+263G>C
c.255+263G>C
n.380+263G>C
n.699C>G
c.2392C>G (p.Gln798Glu)
n.2615C>G
c.2161C>G (p.Gln721Glu)
n.3582C>G
n.2361C>G
5g.74721699G=CA1555784332GFM2,HEXBc.2296C= (p.Gln766=)
c.2155C= (p.Gln719=)
c.608+263G=
c.255+263G=
n.380+263G=
n.699C=
c.2392C= (p.Gln798=)
n.2615C=
c.2161C= (p.Gln721=)
n.3582C=
n.2361C=
5g.74721699G>TCA360072518GFM2,HEXBc.2296C>A (p.Gln766Lys)
c.2155C>A (p.Gln719Lys)
c.608+263G>T
c.255+263G>T
n.380+263G>T
n.699C>A
c.2392C>A (p.Gln798Lys)
n.2615C>A
c.2161C>A (p.Gln721Lys)
n.3582C>A
n.2361C>A
5g.74721700A>CCA444849978GFM2,HEXBc.2295T>G (p.Pro765=)
c.2154T>G (p.Pro718=)
c.608+264A>C
c.255+264A>C
n.380+264A>C
n.698T>G
c.2391T>G (p.Pro797=)
n.2614T>G
c.2160T>G (p.Pro720=)
n.3581T>G
n.2360T>G
5g.74721700A>GCA444849981GFM2,HEXBc.2295T>C (p.Pro765=)
c.2154T>C (p.Pro718=)
c.608+264A>G
c.255+264A>G
n.380+264A>G
n.698T>C
c.2391T>C (p.Pro797=)
n.2614T>C
c.2160T>C (p.Pro720=)
n.3581T>C
n.2360T>C
5g.74721700A>TCA444849983GFM2,HEXBc.2295T>A (p.Pro765=)
c.2154T>A (p.Pro718=)
c.608+264A>T
c.255+264A>T
n.380+264A>T
n.698T>A
c.2391T>A (p.Pro797=)
n.2614T>A
c.2160T>A (p.Pro720=)
n.3581T>A
n.2360T>A
5g.74721701G>ACA360072521GFM2,HEXBc.2294C>T (p.Pro765Leu)
c.2153C>T (p.Pro718Leu)
c.608+265G>A
c.255+265G>A
n.380+265G>A
n.697C>T
c.2390C>T (p.Pro797Leu)
n.2613C>T
c.2159C>T (p.Pro720Leu)
n.3580C>T
n.2359C>T
5g.74721701G>CCA360072527GFM2,HEXBc.2294C>G (p.Pro765Arg)
c.2153C>G (p.Pro718Arg)
c.608+265G>C
c.255+265G>C
n.380+265G>C
n.697C>G
c.2390C>G (p.Pro797Arg)
n.2613C>G
c.2159C>G (p.Pro720Arg)
n.3580C>G
n.2359C>G
5g.74721701G>TCA360072523GFM2,HEXBc.2294C>A (p.Pro765His)
c.2153C>A (p.Pro718His)
c.608+265G>T
c.255+265G>T
n.380+265G>T
n.697C>A
c.2390C>A (p.Pro797His)
n.2613C>A
c.2159C>A (p.Pro720His)
n.3580C>A
n.2359C>A
5g.74721702G>ACA360072533GFM2,HEXBc.2293C>T (p.Pro765Ser)
c.2152C>T (p.Pro718Ser)
c.608+266G>A
c.255+266G>A
n.380+266G>A
n.696C>T
c.2389C>T (p.Pro797Ser)
n.2612C>T
c.2158C>T (p.Pro720Ser)
n.3579C>T
n.2358C>T
 dbSNP
5g.74721702G>CCA360072534GFM2,HEXBc.2293C>G (p.Pro765Ala)
c.2152C>G (p.Pro718Ala)
c.608+266G>C
c.255+266G>C
n.380+266G>C
n.696C>G
c.2389C>G (p.Pro797Ala)
n.2612C>G
c.2158C>G (p.Pro720Ala)
n.3579C>G
n.2358C>G
5g.74721702G=CA1555784333GFM2,HEXBc.2293C= (p.Pro765=)
c.2152C= (p.Pro718=)
c.608+266G=
c.255+266G=
n.380+266G=
n.696C=
c.2389C= (p.Pro797=)
n.2612C=
c.2158C= (p.Pro720=)
n.3579C=
n.2358C=
5g.74721702G>TCA360072538GFM2,HEXBc.2293C>A (p.Pro765Thr)
c.2152C>A (p.Pro718Thr)
c.608+266G>T
c.255+266G>T
n.380+266G>T
n.696C>A
c.2389C>A (p.Pro797Thr)
n.2612C>A
c.2158C>A (p.Pro720Thr)
n.3579C>A
n.2358C>A
5g.74721703A>CCA360072546GFM2,HEXBc.2292T>G (p.Asn764Lys)
c.2151T>G (p.Asn717Lys)
c.608+267A>C
c.255+267A>C
n.380+267A>C
n.695T>G
c.2388T>G (p.Asn796Lys)
n.2611T>G
c.2157T>G (p.Asn719Lys)
n.3578T>G
n.2357T>G
5g.74721703A>GCA444849992GFM2,HEXBc.2292T>C (p.Asn764=)
c.2151T>C (p.Asn717=)
c.608+267A>G
c.255+267A>G
n.380+267A>G
n.695T>C
c.2388T>C (p.Asn796=)
n.2611T>C
c.2157T>C (p.Asn719=)
n.3578T>C
n.2357T>C
5g.74721703A>TCA360072549GFM2,HEXBc.2292T>A (p.Asn764Lys)
c.2151T>A (p.Asn717Lys)
c.608+267A>T
c.255+267A>T
n.380+267A>T
n.695T>A
c.2388T>A (p.Asn796Lys)
n.2611T>A
c.2157T>A (p.Asn719Lys)
n.3578T>A
n.2357T>A
5g.74721704T>ACA360072551GFM2,HEXBc.2291A>T (p.Asn764Ile)
c.2150A>T (p.Asn717Ile)
c.608+268T>A
c.255+268T>A
n.380+268T>A
n.694A>T
c.2387A>T (p.Asn796Ile)
n.2610A>T
c.2156A>T (p.Asn719Ile)
n.3577A>T
n.2356A>T
5g.74721704T>CCA360072554GFM2,HEXBc.2291A>G (p.Asn764Ser)
c.2150A>G (p.Asn717Ser)
c.608+268T>C
c.255+268T>C
n.380+268T>C
n.694A>G
c.2387A>G (p.Asn796Ser)
n.2610A>G
c.2156A>G (p.Asn719Ser)
n.3577A>G
n.2356A>G
5g.74721704T>GCA120908744GFM2,HEXBc.2291A>C (p.Asn764Thr)
c.2150A>C (p.Asn717Thr)
c.608+268T>G
c.255+268T>G
n.380+268T>G
n.694A>C
c.2387A>C (p.Asn796Thr)
n.2610A>C
c.2156A>C (p.Asn719Thr)
n.3577A>C
n.2356A>C
 dbSNP gnomAD v4
5g.74721704T=CA1555784334GFM2,HEXBc.2291A= (p.Asn764=)
c.2150A= (p.Asn717=)
c.608+268T=
c.255+268T=
n.380+268T=
n.694A=
c.2387A= (p.Asn796=)
n.2610A=
c.2156A= (p.Asn719=)
n.3577A=
n.2356A=
5g.74721705T>ACA360072562GFM2,HEXBc.2290A>T (p.Asn764Tyr)
c.2149A>T (p.Asn717Tyr)
c.608+269T>A
c.255+269T>A
n.380+269T>A
n.693A>T
c.2386A>T (p.Asn796Tyr)
n.2609A>T
c.2155A>T (p.Asn719Tyr)
n.3576A>T
n.2355A>T
5g.74721705T>CCA360072566GFM2,HEXBc.2290A>G (p.Asn764Asp)
c.2149A>G (p.Asn717Asp)
c.608+269T>C
c.255+269T>C
n.380+269T>C
n.693A>G
c.2386A>G (p.Asn796Asp)
n.2609A>G
c.2155A>G (p.Asn719Asp)
n.3576A>G
n.2355A>G
5g.74721705T>GCA360072569GFM2,HEXBc.2290A>C (p.Asn764His)
c.2149A>C (p.Asn717His)
c.608+269T>G
c.255+269T>G
n.380+269T>G
n.693A>C
c.2386A>C (p.Asn796His)
n.2609A>C
c.2155A>C (p.Asn719His)
n.3576A>C
n.2355A>C
 dbSNP gnomAD v2 gnomAD v4
5g.74721705T=CA1555784335GFM2,HEXBc.2290A= (p.Asn764=)
c.2149A= (p.Asn717=)
c.608+269T=
c.255+269T=
n.380+269T=
n.693A=
c.2386A= (p.Asn796=)
n.2609A=
c.2155A= (p.Asn719=)
n.3576A=
n.2355A=
5g.74721706C>ACA360072580GFM2,HEXBc.2289G>T (p.Met763Ile)
c.2148G>T (p.Met716Ile)
c.608+270C>A
c.255+270C>A
n.380+270C>A
n.692G>T
c.2385G>T (p.Met795Ile)
n.2608G>T
c.2154G>T (p.Met718Ile)
n.3575G>T
n.2354G>T
5g.74721706C=CA1555784336GFM2,HEXBc.2289G= (p.Met763=)
c.2148G= (p.Met716=)
c.608+270C=
c.255+270C=
n.380+270C=
n.692G=
c.2385G= (p.Met795=)
n.2608G=
c.2154G= (p.Met718=)
n.3575G=
n.2354G=
5g.74721706C>GCA360072576GFM2,HEXBc.2289G>C (p.Met763Ile)
c.2148G>C (p.Met716Ile)
c.608+270C>G
c.255+270C>G
n.380+270C>G
n.692G>C
c.2385G>C (p.Met795Ile)
n.2608G>C
c.2154G>C (p.Met718Ile)
n.3575G>C
n.2354G>C
5g.74721706C>TCA3306302GFM2,HEXBc.2289G>A (p.Met763Ile)
c.2148G>A (p.Met716Ile)
c.608+270C>T
c.255+270C>T
n.380+270C>T
n.692G>A
c.2385G>A (p.Met795Ile)
n.2608G>A
c.2154G>A (p.Met718Ile)
n.3575G>A
n.2354G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721707A=CA1555784337GFM2,HEXBc.2288T= (p.Met763=)
c.2147T= (p.Met716=)
c.608+271A=
c.255+271A=
n.380+271A=
n.691T=
c.2384T= (p.Met795=)
n.2607T=
c.2153T= (p.Met718=)
n.3574T=
n.2353T=
5g.74721707A>CCA360072585GFM2,HEXBc.2288T>G (p.Met763Arg)
c.2147T>G (p.Met716Arg)
c.608+271A>C
c.255+271A>C
n.380+271A>C
n.691T>G
c.2384T>G (p.Met795Arg)
n.2607T>G
c.2153T>G (p.Met718Arg)
n.3574T>G
n.2353T>G
5g.74721707A>GCA360072592GFM2,HEXBc.2288T>C (p.Met763Thr)
c.2147T>C (p.Met716Thr)
c.608+271A>G
c.255+271A>G
n.380+271A>G
n.691T>C
c.2384T>C (p.Met795Thr)
n.2607T>C
c.2153T>C (p.Met718Thr)
n.3574T>C
n.2353T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721707A>TCA360072588GFM2,HEXBc.2288T>A (p.Met763Lys)
c.2147T>A (p.Met716Lys)
c.608+271A>T
c.255+271A>T
n.380+271A>T
n.691T>A
c.2384T>A (p.Met795Lys)
n.2607T>A
c.2153T>A (p.Met718Lys)
n.3574T>A
n.2353T>A
5g.74721708T>ACA360072594GFM2,HEXBc.2287A>T (p.Met763Leu)
c.2146A>T (p.Met716Leu)
c.608+272T>A
c.255+272T>A
n.380+272T>A
n.690A>T
c.2383A>T (p.Met795Leu)
n.2606A>T
c.2152A>T (p.Met718Leu)
n.3573A>T
n.2352A>T
5g.74721708T>CCA3306303GFM2,HEXBc.2287A>G (p.Met763Val)
c.2146A>G (p.Met716Val)
c.608+272T>C
c.255+272T>C
n.380+272T>C
n.690A>G
c.2383A>G (p.Met795Val)
n.2606A>G
c.2152A>G (p.Met718Val)
n.3573A>G
n.2352A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.74721708T>GCA360072598GFM2,HEXBc.2287A>C (p.Met763Leu)
c.2146A>C (p.Met716Leu)
c.608+272T>G
c.255+272T>G
n.380+272T>G
n.690A>C
c.2383A>C (p.Met795Leu)
n.2606A>C
c.2152A>C (p.Met718Leu)
n.3573A>C
n.2352A>C
5g.74721708T=CA1555784338GFM2,HEXBc.2287A= (p.Met763=)
c.2146A= (p.Met716=)
c.608+272T=
c.255+272T=
n.380+272T=
n.690A=
c.2383A= (p.Met795=)
n.2606A=
c.2152A= (p.Met718=)
n.3573A=
n.2352A=
5g.74721709G>ACA444850020GFM2,HEXBc.2286C>T (p.Ala762=)
c.2145C>T (p.Ala715=)
c.608+273G>A
c.255+273G>A
n.380+273G>A
n.689C>T
c.2382C>T (p.Ala794=)
n.2605C>T
c.2151C>T (p.Ala717=)
n.3572C>T
n.2351C>T
5g.74721709G>CCA444850017GFM2,HEXBc.2286C>G (p.Ala762=)
c.2145C>G (p.Ala715=)
c.608+273G>C
c.255+273G>C
n.380+273G>C
n.689C>G
c.2382C>G (p.Ala794=)
n.2605C>G
c.2151C>G (p.Ala717=)
n.3572C>G
n.2351C>G
 dbSNP gnomAD v3 gnomAD v4
5g.74721709G=CA1555784339GFM2,HEXBc.2286C= (p.Ala762=)
c.2145C= (p.Ala715=)
c.608+273G=
c.255+273G=
n.380+273G=
n.689C=
c.2382C= (p.Ala794=)
n.2605C=
c.2151C= (p.Ala717=)
n.3572C=
n.2351C=
5g.74721709G>TCA444850013GFM2,HEXBc.2286C>A (p.Ala762=)
c.2145C>A (p.Ala715=)
c.608+273G>T
c.255+273G>T
n.380+273G>T
n.689C>A
c.2382C>A (p.Ala794=)
n.2605C>A
c.2151C>A (p.Ala717=)
n.3572C>A
n.2351C>A
5g.74721710G>ACA360072608GFM2,HEXBc.2285C>T (p.Ala762Val)
c.2144C>T (p.Ala715Val)
c.608+274G>A
c.255+274G>A
n.380+274G>A
n.688C>T
c.2381C>T (p.Ala794Val)
n.2604C>T
c.2150C>T (p.Ala717Val)
n.3571C>T
n.2350C>T
5g.74721710G>CCA360072614GFM2,HEXBc.2285C>G (p.Ala762Gly)
c.2144C>G (p.Ala715Gly)
c.608+274G>C
c.255+274G>C
n.380+274G>C
n.688C>G
c.2381C>G (p.Ala794Gly)
n.2604C>G
c.2150C>G (p.Ala717Gly)
n.3571C>G
n.2350C>G
5g.74721710G>TCA360072611GFM2,HEXBc.2285C>A (p.Ala762Asp)
c.2144C>A (p.Ala715Asp)
c.608+274G>T
c.255+274G>T
n.380+274G>T
n.688C>A
c.2381C>A (p.Ala794Asp)
n.2604C>A
c.2150C>A (p.Ala717Asp)
n.3571C>A
n.2350C>A
5g.74721711C>ACA360072618GFM2,HEXBc.2284G>T (p.Ala762Ser)
c.2143G>T (p.Ala715Ser)
c.608+275C>A
c.255+275C>A
n.380+275C>A
n.687G>T
c.2380G>T (p.Ala794Ser)
n.2603G>T
c.2149G>T (p.Ala717Ser)
n.3570G>T
n.2349G>T
5g.74721711C>GCA360072626GFM2,HEXBc.2284G>C (p.Ala762Pro)
c.2143G>C (p.Ala715Pro)
c.608+275C>G
c.255+275C>G
n.380+275C>G
n.687G>C
c.2380G>C (p.Ala794Pro)
n.2603G>C
c.2149G>C (p.Ala717Pro)
n.3570G>C
n.2349G>C
5g.74721711C>TCA360072622GFM2,HEXBc.2284G>A (p.Ala762Thr)
c.2143G>A (p.Ala715Thr)
c.608+275C>T
c.255+275C>T
n.380+275C>T
n.687G>A
c.2380G>A (p.Ala794Thr)
n.2603G>A
c.2149G>A (p.Ala717Thr)
n.3570G>A
n.2349G>A
5g.74721712T>ACA360072631GFM2,HEXBc.2283A>T (p.Gln761His)
c.2142A>T (p.Gln714His)
c.608+276T>A
c.255+276T>A
n.380+276T>A
n.686A>T
c.2379A>T (p.Gln793His)
n.2602A>T
c.2148A>T (p.Gln716His)
n.3569A>T
n.2348A>T
5g.74721712T>CCA444850136GFM2,HEXBc.2283A>G (p.Gln761=)
c.2142A>G (p.Gln714=)
c.608+276T>C
c.255+276T>C
n.380+276T>C
n.686A>G
c.2379A>G (p.Gln793=)
n.2602A>G
c.2148A>G (p.Gln716=)
n.3569A>G
n.2348A>G
 dbSNP gnomAD v2 gnomAD v4
5g.74721712T>GCA360072633GFM2,HEXBc.2283A>C (p.Gln761His)
c.2142A>C (p.Gln714His)
c.608+276T>G
c.255+276T>G
n.380+276T>G
n.686A>C
c.2379A>C (p.Gln793His)
n.2602A>C
c.2148A>C (p.Gln716His)
n.3569A>C
n.2348A>C
5g.74721712T=CA1555784340GFM2,HEXBc.2283A= (p.Gln761=)
c.2142A= (p.Gln714=)
c.608+276T=
c.255+276T=
n.380+276T=
n.686A=
c.2379A= (p.Gln793=)
n.2602A=
c.2148A= (p.Gln716=)
n.3569A=
n.2348A=
5g.74721713T>ACA360072640GFM2,HEXBc.2282A>T (p.Gln761Leu)
c.2141A>T (p.Gln714Leu)
c.608+277T>A
c.255+277T>A
n.380+277T>A
n.685A>T
c.2378A>T (p.Gln793Leu)
n.2601A>T
c.2147A>T (p.Gln716Leu)
n.3568A>T
n.2347A>T
5g.74721713T>CCA360072643GFM2,HEXBc.2282A>G (p.Gln761Arg)
c.2141A>G (p.Gln714Arg)
c.608+277T>C
c.255+277T>C
n.380+277T>C
n.685A>G
c.2378A>G (p.Gln793Arg)
n.2601A>G
c.2147A>G (p.Gln716Arg)
n.3568A>G
n.2347A>G
5g.74721713T>GCA360072645GFM2,HEXBc.2282A>C (p.Gln761Pro)
c.2141A>C (p.Gln714Pro)
c.608+277T>G
c.255+277T>G
n.380+277T>G
n.685A>C
c.2378A>C (p.Gln793Pro)
n.2601A>C
c.2147A>C (p.Gln716Pro)
n.3568A>C
n.2347A>C
5g.74721714G>ACA360072650GFM2,HEXBc.2281C>T (p.Gln761Ter)
c.2140C>T (p.Gln714Ter)
c.608+278G>A
c.255+278G>A
n.380+278G>A
n.684C>T
c.2377C>T (p.Gln793Ter)
n.2600C>T
c.2146C>T (p.Gln716Ter)
n.3567C>T
n.2346C>T
 gnomAD v4
5g.74721714G>CCA360072653GFM2,HEXBc.2281C>G (p.Gln761Glu)
c.2140C>G (p.Gln714Glu)
c.608+278G>C
c.255+278G>C
n.380+278G>C
n.684C>G
c.2377C>G (p.Gln793Glu)
n.2600C>G
c.2146C>G (p.Gln716Glu)
n.3567C>G
n.2346C>G
5g.74721714G=CA1555784341GFM2,HEXBc.2281C= (p.Gln761=)
c.2140C= (p.Gln714=)
c.608+278G=
c.255+278G=
n.380+278G=
n.684C=
c.2377C= (p.Gln793=)
n.2600C=
c.2146C= (p.Gln716=)
n.3567C=
n.2346C=
5g.74721714G>TCA360072658GFM2,HEXBc.2281C>A (p.Gln761Lys)
c.2140C>A (p.Gln714Lys)
c.608+278G>T
c.255+278G>T
n.380+278G>T
n.684C>A
c.2377C>A (p.Gln793Lys)
n.2600C>A
c.2146C>A (p.Gln716Lys)
n.3567C>A
n.2346C>A
 dbSNP gnomAD v2
5g.74721715A=CA1555784342GFM2,HEXBc.2280T= (p.Tyr760=)
c.2139T= (p.Tyr713=)
c.608+279A=
c.255+279A=
n.380+279A=
n.683T=
c.2376T= (p.Tyr792=)
n.2599T=
c.2145T= (p.Tyr715=)
n.3566T=
n.2345T=
5g.74721715A>CCA360072661GFM2,HEXBc.2280T>G (p.Tyr760Ter)
c.2139T>G (p.Tyr713Ter)
c.608+279A>C
c.255+279A>C
n.380+279A>C
n.683T>G
c.2376T>G (p.Tyr792Ter)
n.2599T>G
c.2145T>G (p.Tyr715Ter)
n.3566T>G
n.2345T>G
5g.74721715A>GCA444850142GFM2,HEXBc.2280T>C (p.Tyr760=)
c.2139T>C (p.Tyr713=)
c.608+279A>G
c.255+279A>G
n.380+279A>G
n.683T>C
c.2376T>C (p.Tyr792=)
n.2599T>C
c.2145T>C (p.Tyr715=)
n.3566T>C
n.2345T>C
 dbSNP gnomAD v4
5g.74721715A>TCA3306304GFM2,HEXBc.2280T>A (p.Tyr760Ter)
c.2139T>A (p.Tyr713Ter)
c.608+279A>T
c.255+279A>T
n.380+279A>T
n.683T>A
c.2376T>A (p.Tyr792Ter)
n.2599T>A
c.2145T>A (p.Tyr715Ter)
n.3566T>A
n.2345T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721716T>ACA3306305GFM2,HEXBc.2279A>T (p.Tyr760Phe)
c.2138A>T (p.Tyr713Phe)
c.608+280T>A
c.255+280T>A
n.380+280T>A
n.682A>T
c.2375A>T (p.Tyr792Phe)
n.2598A>T
c.2144A>T (p.Tyr715Phe)
n.3565A>T
n.2344A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721716T>CCA360072671GFM2,HEXBc.2279A>G (p.Tyr760Cys)
c.2138A>G (p.Tyr713Cys)
c.608+280T>C
c.255+280T>C
n.380+280T>C
n.682A>G
c.2375A>G (p.Tyr792Cys)
n.2598A>G
c.2144A>G (p.Tyr715Cys)
n.3565A>G
n.2344A>G
5g.74721716T>GCA360072673GFM2,HEXBc.2279A>C (p.Tyr760Ser)
c.2138A>C (p.Tyr713Ser)
c.608+280T>G
c.255+280T>G
n.380+280T>G
n.682A>C
c.2375A>C (p.Tyr792Ser)
n.2598A>C
c.2144A>C (p.Tyr715Ser)
n.3565A>C
n.2344A>C
5g.74721716T=CA1555784343GFM2,HEXBc.2279A= (p.Tyr760=)
c.2138A= (p.Tyr713=)
c.608+280T=
c.255+280T=
n.380+280T=
n.682A=
c.2375A= (p.Tyr792=)
n.2598A=
c.2144A= (p.Tyr715=)
n.3565A=
n.2344A=
5g.74721716_74721730dupCA560368307GFM2,HEXBc.2265_2279dup (p.Tyr760Ter)
c.2124_2138dup (p.Tyr713Ter)
c.608+280_608+294dup
c.255+280_255+294dup
n.380+280_380+294dup
n.668_682dup
c.2361_2375dup (p.Tyr792Ter)
n.2584_2598dup
c.2130_2144dup (p.Tyr715Ter)
n.3551_3565dup
n.2330_2344dup
 dbSNP gnomAD v2 gnomAD v4
5g.74721716_74721737delinsTAAGTAGATAGTTCTAAGGCAACA1555784344GFM2,HEXBc.2258_2279delinsTTGCCTTAGAACTATCTACTTA (p.Phe753=)
c.2117_2138delinsTTGCCTTAGAACTATCTACTTA (p.Phe706=)
c.608+280_608+301delinsTAAGTAGATAGTTCTAAGGCAA
c.255+280_255+301delinsTAAGTAGATAGTTCTAAGGCAA
n.380+280_380+301delinsTAAGTAGATAGTTCTAAGGCAA
n.661_682delinsTTGCCTTAGAACTATCTACTTA
c.2354_2375delinsTTGCCTTAGAACTATCTACTTA (p.Phe785=)
n.2577_2598delinsTTGCCTTAGAACTATCTACTTA
c.2123_2144delinsTTGCCTTAGAACTATCTACTTA (p.Phe708=)
n.3544_3565delinsTTGCCTTAGAACTATCTACTTA
n.2323_2344delinsTTGCCTTAGAACTATCTACTTA
5g.74721717A=CA1555784346GFM2,HEXBc.2278T= (p.Tyr760=)
c.2137T= (p.Tyr713=)
c.608+281A=
c.255+281A=
n.380+281A=
n.681T=
c.2374T= (p.Tyr792=)
n.2597T=
c.2143T= (p.Tyr715=)
n.3564T=
n.2343T=
5g.74721717A>CCA360072689GFM2,HEXBc.2278T>G (p.Tyr760Asp)
c.2137T>G (p.Tyr713Asp)
c.608+281A>C
c.255+281A>C
n.380+281A>C
n.681T>G
c.2374T>G (p.Tyr792Asp)
n.2597T>G
c.2143T>G (p.Tyr715Asp)
n.3564T>G
n.2343T>G
 dbSNP gnomAD v2 gnomAD v4
5g.74721717A>GCA360072679GFM2,HEXBc.2278T>C (p.Tyr760His)
c.2137T>C (p.Tyr713His)
c.608+281A>G
c.255+281A>G
n.380+281A>G
n.681T>C
c.2374T>C (p.Tyr792His)
n.2597T>C
c.2143T>C (p.Tyr715His)
n.3564T>C
n.2343T>C
5g.74721717A>TCA3306306GFM2,HEXBc.2278T>A (p.Tyr760Asn)
c.2137T>A (p.Tyr713Asn)
c.608+281A>T
c.255+281A>T
n.380+281A>T
n.681T>A
c.2374T>A (p.Tyr792Asn)
n.2597T>A
c.2143T>A (p.Tyr715Asn)
n.3564T>A
n.2343T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721723_74721743delCA1555784345GFM2,HEXBc.2258_2278del (p.Phe753_Thr759del)
c.2117_2137del (p.Phe706_Thr712del)
c.608+287_608+307del
c.255+287_255+307del
n.380+287_380+307del
n.661_681del
c.2354_2374del (p.Phe785_Thr791del)
n.2577_2597del
c.2123_2143del (p.Phe708_Thr714del)
n.3544_3564del
n.2323_2343del
 dbSNP
5g.74721718A>CCA444850149GFM2,HEXBc.2277T>G (p.Thr759=)
c.2136T>G (p.Thr712=)
c.608+282A>C
c.255+282A>C
n.380+282A>C
n.680T>G
c.2373T>G (p.Thr791=)
n.2596T>G
c.2142T>G (p.Thr714=)
n.3563T>G
n.2342T>G
5g.74721718A>GCA444850150GFM2,HEXBc.2277T>C (p.Thr759=)
c.2136T>C (p.Thr712=)
c.608+282A>G
c.255+282A>G
n.380+282A>G
n.680T>C
c.2373T>C (p.Thr791=)
n.2596T>C
c.2142T>C (p.Thr714=)
n.3563T>C
n.2342T>C
5g.74721718A>TCA444850152GFM2,HEXBc.2277T>A (p.Thr759=)
c.2136T>A (p.Thr712=)
c.608+282A>T
c.255+282A>T
n.380+282A>T
n.680T>A
c.2373T>A (p.Thr791=)
n.2596T>A
c.2142T>A (p.Thr714=)
n.3563T>A
n.2342T>A
5g.74721719G>ACA360072692GFM2,HEXBc.2276C>T (p.Thr759Ile)
c.2135C>T (p.Thr712Ile)
c.608+283G>A
c.255+283G>A
n.380+283G>A
n.679C>T
c.2372C>T (p.Thr791Ile)
n.2595C>T
c.2141C>T (p.Thr714Ile)
n.3562C>T
n.2341C>T
5g.74721719G>CCA360072695GFM2,HEXBc.2276C>G (p.Thr759Ser)
c.2135C>G (p.Thr712Ser)
c.608+283G>C
c.255+283G>C
n.380+283G>C
n.679C>G
c.2372C>G (p.Thr791Ser)
n.2595C>G
c.2141C>G (p.Thr714Ser)
n.3562C>G
n.2341C>G
5g.74721719G>TCA360072698GFM2,HEXBc.2276C>A (p.Thr759Asn)
c.2135C>A (p.Thr712Asn)
c.608+283G>T
c.255+283G>T
n.380+283G>T
n.679C>A
c.2372C>A (p.Thr791Asn)
n.2595C>A
c.2141C>A (p.Thr714Asn)
n.3562C>A
n.2341C>A
5g.74721720T>ACA360072702GFM2,HEXBc.2275A>T (p.Thr759Ser)
c.2134A>T (p.Thr712Ser)
c.608+284T>A
c.255+284T>A
n.380+284T>A
n.678A>T
c.2371A>T (p.Thr791Ser)
n.2594A>T
c.2140A>T (p.Thr714Ser)
n.3561A>T
n.2340A>T
5g.74721720T>CCA360072706GFM2,HEXBc.2275A>G (p.Thr759Ala)
c.2134A>G (p.Thr712Ala)
c.608+284T>C
c.255+284T>C
n.380+284T>C
n.678A>G
c.2371A>G (p.Thr791Ala)
n.2594A>G
c.2140A>G (p.Thr714Ala)
n.3561A>G
n.2340A>G
5g.74721720T>GCA360072709GFM2,HEXBc.2275A>C (p.Thr759Pro)
c.2134A>C (p.Thr712Pro)
c.608+284T>G
c.255+284T>G
n.380+284T>G
n.678A>C
c.2371A>C (p.Thr791Pro)
n.2594A>C
c.2140A>C (p.Thr714Pro)
n.3561A>C
n.2340A>C
5g.74721720_74721722delinsTAGCA1555784347GFM2,HEXBc.2273_2275delinsCTA (p.Ser758=)
c.2132_2134delinsCTA (p.Ser711=)
c.608+284_608+286delinsTAG
c.255+284_255+286delinsTAG
n.380+284_380+286delinsTAG
n.676_678delinsCTA
c.2369_2371delinsCTA (p.Ser790=)
n.2592_2594delinsCTA
c.2138_2140delinsCTA (p.Ser713=)
n.3559_3561delinsCTA
n.2338_2340delinsCTA
5g.74721721A>CCA444850158GFM2,HEXBc.2274T>G (p.Ser758=)
c.2133T>G (p.Ser711=)
c.608+285A>C
c.255+285A>C
n.380+285A>C
n.677T>G
c.2370T>G (p.Ser790=)
n.2593T>G
c.2139T>G (p.Ser713=)
n.3560T>G
n.2339T>G
5g.74721721A>GCA444850161GFM2,HEXBc.2274T>C (p.Ser758=)
c.2133T>C (p.Ser711=)
c.608+285A>G
c.255+285A>G
n.380+285A>G
n.677T>C
c.2370T>C (p.Ser790=)
n.2593T>C
c.2139T>C (p.Ser713=)
n.3560T>C
n.2339T>C
5g.74721721A>TCA444850162GFM2,HEXBc.2274T>A (p.Ser758=)
c.2133T>A (p.Ser711=)
c.608+285A>T
c.255+285A>T
n.380+285A>T
n.677T>A
c.2370T>A (p.Ser790=)
n.2593T>A
c.2139T>A (p.Ser713=)
n.3560T>A
n.2339T>A
5g.74721722_74721723delCA3306307GFM2,HEXBc.2273_2274del (p.Ser758TyrfsTer?)
c.2132_2133del (p.Ser711TyrfsTer?)
c.608+286_608+287del
c.255+286_255+287del
n.380+286_380+287del
n.676_677del
c.2369_2370del (p.Ser790TyrfsTer?)
n.2592_2593del
c.2138_2139del (p.Ser713TyrfsTer?)
n.3559_3560del
n.2338_2339del
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721722G>ACA360072717GFM2,HEXBc.2273C>T (p.Ser758Phe)
c.2132C>T (p.Ser711Phe)
c.608+286G>A
c.255+286G>A
n.380+286G>A
n.676C>T
c.2369C>T (p.Ser790Phe)
n.2592C>T
c.2138C>T (p.Ser713Phe)
n.3559C>T
n.2338C>T
5g.74721722G>CCA120908761GFM2,HEXBc.2273C>G (p.Ser758Cys)
c.2132C>G (p.Ser711Cys)
c.608+286G>C
c.255+286G>C
n.380+286G>C
n.676C>G
c.2369C>G (p.Ser790Cys)
n.2592C>G
c.2138C>G (p.Ser713Cys)
n.3559C>G
n.2338C>G
 dbSNP
5g.74721722G=CA1555784348GFM2,HEXBc.2273C= (p.Ser758=)
c.2132C= (p.Ser711=)
c.608+286G=
c.255+286G=
n.380+286G=
n.676C=
c.2369C= (p.Ser790=)
n.2592C=
c.2138C= (p.Ser713=)
n.3559C=
n.2338C=
5g.74721722G>TCA360072723GFM2,HEXBc.2273C>A (p.Ser758Tyr)
c.2132C>A (p.Ser711Tyr)
c.608+286G>T
c.255+286G>T
n.380+286G>T
n.676C>A
c.2369C>A (p.Ser790Tyr)
n.2592C>A
c.2138C>A (p.Ser713Tyr)
n.3559C>A
n.2338C>A
5g.74721723delCA2674242281GFM2,HEXBc.2272del (p.Ser758LeufsTer6)
c.2131del (p.Ser711LeufsTer6)
c.608+287del
c.255+287del
n.380+287del
n.675del
c.2368del (p.Ser790LeufsTer6)
n.2591del
c.2137del (p.Ser713LeufsTer6)
n.3558del
n.2337del
 gnomAD v4
5g.74721723A>CCA360072731GFM2,HEXBc.2272T>G (p.Ser758Ala)
c.2131T>G (p.Ser711Ala)
c.608+287A>C
c.255+287A>C
n.380+287A>C
n.675T>G
c.2368T>G (p.Ser790Ala)
n.2591T>G
c.2137T>G (p.Ser713Ala)
n.3558T>G
n.2337T>G
5g.74721723A>GCA360072735GFM2,HEXBc.2272T>C (p.Ser758Pro)
c.2131T>C (p.Ser711Pro)
c.608+287A>G
c.255+287A>G
n.380+287A>G
n.675T>C
c.2368T>C (p.Ser790Pro)
n.2591T>C
c.2137T>C (p.Ser713Pro)
n.3558T>C
n.2337T>C
 dbSNP
5g.74721723A>TCA360072728GFM2,HEXBc.2272T>A (p.Ser758Thr)
c.2131T>A (p.Ser711Thr)
c.608+287A>T
c.255+287A>T
n.380+287A>T
n.675T>A
c.2368T>A (p.Ser790Thr)
n.2591T>A
c.2137T>A (p.Ser713Thr)
n.3558T>A
n.2337T>A
5g.74721724T>ACA444850170GFM2,HEXBc.2271A>T (p.Leu757=)
c.2130A>T (p.Leu710=)
c.608+288T>A
c.255+288T>A
n.380+288T>A
n.674A>T
c.2367A>T (p.Leu789=)
n.2590A>T
c.2136A>T (p.Leu712=)
n.3557A>T
n.2336A>T
5g.74721724T>CCA444850172GFM2,HEXBc.2271A>G (p.Leu757=)
c.2130A>G (p.Leu710=)
c.608+288T>C
c.255+288T>C
n.380+288T>C
n.674A>G
c.2367A>G (p.Leu789=)
n.2590A>G
c.2136A>G (p.Leu712=)
n.3557A>G
n.2336A>G
 dbSNP gnomAD v4
5g.74721724T>GCA444850175GFM2,HEXBc.2271A>C (p.Leu757=)
c.2130A>C (p.Leu710=)
c.608+288T>G
c.255+288T>G
n.380+288T>G
n.674A>C
c.2367A>C (p.Leu789=)
n.2590A>C
c.2136A>C (p.Leu712=)
n.3557A>C
n.2336A>C
5g.74721724T=CA1555784349GFM2,HEXBc.2271A= (p.Leu757=)
c.2130A= (p.Leu710=)
c.608+288T=
c.255+288T=
n.380+288T=
n.674A=
c.2367A= (p.Leu789=)
n.2590A=
c.2136A= (p.Leu712=)
n.3557A=
n.2336A=
5g.74721725A=CA1555784350GFM2,HEXBc.2270T= (p.Leu757=)
c.2129T= (p.Leu710=)
c.608+289A=
c.255+289A=
n.380+289A=
n.673T=
c.2366T= (p.Leu789=)
n.2589T=
c.2135T= (p.Leu712=)
n.3556T=
n.2335T=
5g.74721725A>CCA360072740GFM2,HEXBc.2270T>G (p.Leu757Arg)
c.2129T>G (p.Leu710Arg)
c.608+289A>C
c.255+289A>C
n.380+289A>C
n.673T>G
c.2366T>G (p.Leu789Arg)
n.2589T>G
c.2135T>G (p.Leu712Arg)
n.3556T>G
n.2335T>G
5g.74721725A>GCA360072744GFM2,HEXBc.2270T>C (p.Leu757Pro)
c.2129T>C (p.Leu710Pro)
c.608+289A>G
c.255+289A>G
n.380+289A>G
n.673T>C
c.2366T>C (p.Leu789Pro)
n.2589T>C
c.2135T>C (p.Leu712Pro)
n.3556T>C
n.2335T>C
 dbSNP gnomAD v2
5g.74721725A>TCA360072746GFM2,HEXBc.2270T>A (p.Leu757Gln)
c.2129T>A (p.Leu710Gln)
c.608+289A>T
c.255+289A>T
n.380+289A>T
n.673T>A
c.2366T>A (p.Leu789Gln)
n.2589T>A
c.2135T>A (p.Leu712Gln)
n.3556T>A
n.2335T>A
5g.74721726G>ACA444850176GFM2,HEXBc.2269C>T (p.Leu757=)
c.2128C>T (p.Leu710=)
c.608+290G>A
c.255+290G>A
n.380+290G>A
n.672C>T
c.2365C>T (p.Leu789=)
n.2588C>T
c.2134C>T (p.Leu712=)
n.3555C>T
n.2334C>T
 dbSNP gnomAD v4
5g.74721726G>CCA360072752GFM2,HEXBc.2269C>G (p.Leu757Val)
c.2128C>G (p.Leu710Val)
c.608+290G>C
c.255+290G>C
n.380+290G>C
n.672C>G
c.2365C>G (p.Leu789Val)
n.2588C>G
c.2134C>G (p.Leu712Val)
n.3555C>G
n.2334C>G
5g.74721726G=CA1555784351GFM2,HEXBc.2269C= (p.Leu757=)
c.2128C= (p.Leu710=)
c.608+290G=
c.255+290G=
n.380+290G=
n.672C=
c.2365C= (p.Leu789=)
n.2588C=
c.2134C= (p.Leu712=)
n.3555C=
n.2334C=
5g.74721726G>TCA360072755GFM2,HEXBc.2269C>A (p.Leu757Ile)
c.2128C>A (p.Leu710Ile)
c.608+290G>T
c.255+290G>T
n.380+290G>T
n.672C>A
c.2365C>A (p.Leu789Ile)
n.2588C>A
c.2134C>A (p.Leu712Ile)
n.3555C>A
n.2334C>A
5g.74721726_74721742delinsGTTCTAAGGCAAAAGTACA1555784352GFM2,HEXBc.2253_2269delinsTACTTTTGCCTTAGAAC (p.Ala751=)
c.2112_2128delinsTACTTTTGCCTTAGAAC (p.Ala704=)
c.608+290_608+306delinsGTTCTAAGGCAAAAGTA
c.255+290_255+306delinsGTTCTAAGGCAAAAGTA
n.380+290_380+306delinsGTTCTAAGGCAAAAGTA
n.656_672delinsTACTTTTGCCTTAGAAC
c.2349_2365delinsTACTTTTGCCTTAGAAC (p.Ala783=)
n.2572_2588delinsTACTTTTGCCTTAGAAC
c.2118_2134delinsTACTTTTGCCTTAGAAC (p.Ala706=)
n.3539_3555delinsTACTTTTGCCTTAGAAC
n.2318_2334delinsTACTTTTGCCTTAGAAC
5g.74721727T>ACA360072760GFM2,HEXBc.2268A>T (p.Glu756Asp)
c.2127A>T (p.Glu709Asp)
c.608+291T>A
c.255+291T>A
n.380+291T>A
n.671A>T
c.2364A>T (p.Glu788Asp)
n.2587A>T
c.2133A>T (p.Glu711Asp)
n.3554A>T
n.2333A>T
 gnomAD v4
5g.74721727T>CCA444850177GFM2,HEXBc.2268A>G (p.Glu756=)
c.2127A>G (p.Glu709=)
c.608+291T>C
c.255+291T>C
n.380+291T>C
n.671A>G
c.2364A>G (p.Glu788=)
n.2587A>G
c.2133A>G (p.Glu711=)
n.3554A>G
n.2333A>G
5g.74721727T>GCA360072757GFM2,HEXBc.2268A>C (p.Glu756Asp)
c.2127A>C (p.Glu709Asp)
c.608+291T>G
c.255+291T>G
n.380+291T>G
n.671A>C
c.2364A>C (p.Glu788Asp)
n.2587A>C
c.2133A>C (p.Glu711Asp)
n.3554A>C
n.2333A>C
5g.74721727_74721728delCA2510345988GFM2,HEXBc.2267_2268del (p.Glu756AlafsTer?)
c.2126_2127del (p.Glu709AlafsTer?)
c.608+291_608+292del
c.255+291_255+292del
n.380+291_380+292del
n.670_671del
c.2363_2364del (p.Glu788AlafsTer?)
n.2586_2587del
c.2132_2133del (p.Glu711AlafsTer?)
n.3553_3554del
n.2332_2333del
5g.74721727_74721742delCA1555784353GFM2,HEXBc.2253_2268del (p.Thr752TyrfsTer7)
c.2112_2127del (p.Thr705TyrfsTer7)
c.608+291_608+306del
c.255+291_255+306del
n.380+291_380+306del
n.656_671del
c.2349_2364del (p.Thr784TyrfsTer7)
n.2572_2587del
c.2118_2133del (p.Thr707TyrfsTer7)
n.3539_3554del
n.2318_2333del
 dbSNP
5g.74721728T>ACA360072773GFM2,HEXBc.2267A>T (p.Glu756Val)
c.2126A>T (p.Glu709Val)
c.608+292T>A
c.255+292T>A
n.380+292T>A
n.670A>T
c.2363A>T (p.Glu788Val)
n.2586A>T
c.2132A>T (p.Glu711Val)
n.3553A>T
n.2332A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721728T>CCA360072777GFM2,HEXBc.2267A>G (p.Glu756Gly)
c.2126A>G (p.Glu709Gly)
c.608+292T>C
c.255+292T>C
n.380+292T>C
n.670A>G
c.2363A>G (p.Glu788Gly)
n.2586A>G
c.2132A>G (p.Glu711Gly)
n.3553A>G
n.2332A>G
 gnomAD v4
5g.74721728T>GCA360072781GFM2,HEXBc.2267A>C (p.Glu756Ala)
c.2126A>C (p.Glu709Ala)
c.608+292T>G
c.255+292T>G
n.380+292T>G
n.670A>C
c.2363A>C (p.Glu788Ala)
n.2586A>C
c.2132A>C (p.Glu711Ala)
n.3553A>C
n.2332A>C
5g.74721728T=CA1555784354GFM2,HEXBc.2267A= (p.Glu756=)
c.2126A= (p.Glu709=)
c.608+292T=
c.255+292T=
n.380+292T=
n.670A=
c.2363A= (p.Glu788=)
n.2586A=
c.2132A= (p.Glu711=)
n.3553A=
n.2332A=
5g.74721729C>ACA360072802GFM2,HEXBc.2266G>T (p.Glu756Ter)
c.2125G>T (p.Glu709Ter)
c.608+293C>A
c.255+293C>A
n.380+293C>A
n.669G>T
c.2362G>T (p.Glu788Ter)
n.2585G>T
c.2131G>T (p.Glu711Ter)
n.3552G>T
n.2331G>T
5g.74721729C=CA1555784355GFM2,HEXBc.2266G= (p.Glu756=)
c.2125G= (p.Glu709=)
c.608+293C=
c.255+293C=
n.380+293C=
n.669G=
c.2362G= (p.Glu788=)
n.2585G=
c.2131G= (p.Glu711=)
n.3552G=
n.2331G=
5g.74721729C>GCA360072805GFM2,HEXBc.2266G>C (p.Glu756Gln)
c.2125G>C (p.Glu709Gln)
c.608+293C>G
c.255+293C>G
n.380+293C>G
n.669G>C
c.2362G>C (p.Glu788Gln)
n.2585G>C
c.2131G>C (p.Glu711Gln)
n.3552G>C
n.2331G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.74721729C>TCA360072811GFM2,HEXBc.2266G>A (p.Glu756Lys)
c.2125G>A (p.Glu709Lys)
c.608+293C>T
c.255+293C>T
n.380+293C>T
n.669G>A
c.2362G>A (p.Glu788Lys)
n.2585G>A
c.2131G>A (p.Glu711Lys)
n.3552G>A
n.2331G>A
5g.74721729_74721730insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTACA1555784357GFM2,HEXBc.2265_2266insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu756Ter)
c.2124_2125insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu709Ter)
c.608+293_608+294insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTA
c.255+293_255+294insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTA
n.380+293_380+294insATTTTCAGTAAGAACAATTTTTATTGCTTTATTTA
n.668_669insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
c.2361_2362insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu788Ter)
n.2584_2585insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
c.2130_2131insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT (p.Glu711Ter)
n.3551_3552insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
n.2330_2331insTAAATAAAGCAATAAAAATTGTTCTTACTGAAAAT
 dbSNP
5g.74721730T>ACA360072817GFM2,HEXBc.2265A>T (p.Leu755Phe)
c.2124A>T (p.Leu708Phe)
c.608+294T>A
c.255+294T>A
n.380+294T>A
n.668A>T
c.2361A>T (p.Leu787Phe)
n.2584A>T
c.2130A>T (p.Leu710Phe)
n.3551A>T
n.2330A>T
 gnomAD v4
5g.74721730T>CCA3306308GFM2,HEXBc.2265A>G (p.Leu755=)
c.2124A>G (p.Leu708=)
c.608+294T>C
c.255+294T>C
n.380+294T>C
n.668A>G
c.2361A>G (p.Leu787=)
n.2584A>G
c.2130A>G (p.Leu710=)
n.3551A>G
n.2330A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721730T>GCA360072821GFM2,HEXBc.2265A>C (p.Leu755Phe)
c.2124A>C (p.Leu708Phe)
c.608+294T>G
c.255+294T>G
n.380+294T>G
n.668A>C
c.2361A>C (p.Leu787Phe)
n.2584A>C
c.2130A>C (p.Leu710Phe)
n.3551A>C
n.2330A>C
 gnomAD v4
5g.74721730T=CA1555784356GFM2,HEXBc.2265A= (p.Leu755=)
c.2124A= (p.Leu708=)
c.608+294T=
c.255+294T=
n.380+294T=
n.668A=
c.2361A= (p.Leu787=)
n.2584A=
c.2130A= (p.Leu710=)
n.3551A=
n.2330A=
5g.74721731A>CCA360072844GFM2,HEXBc.2264T>G (p.Leu755Ter)
c.2123T>G (p.Leu708Ter)
c.608+295A>C
c.255+295A>C
n.380+295A>C
n.667T>G
c.2360T>G (p.Leu787Ter)
n.2583T>G
c.2129T>G (p.Leu710Ter)
n.3550T>G
n.2329T>G
5g.74721731A>GCA360072850GFM2,HEXBc.2264T>C (p.Leu755Ser)
c.2123T>C (p.Leu708Ser)
c.608+295A>G
c.255+295A>G
n.380+295A>G
n.667T>C
c.2360T>C (p.Leu787Ser)
n.2583T>C
c.2129T>C (p.Leu710Ser)
n.3550T>C
n.2329T>C
5g.74721731A>TCA360072858GFM2,HEXBc.2264T>A (p.Leu755Ter)
c.2123T>A (p.Leu708Ter)
c.608+295A>T
c.255+295A>T
n.380+295A>T
n.667T>A
c.2360T>A (p.Leu787Ter)
n.2583T>A
c.2129T>A (p.Leu710Ter)
n.3550T>A
n.2329T>A
5g.74721731_74721739dupCA2674242291GFM2,HEXBc.2256_2264dup (p.Ala754_Leu755insPhePheAla)
c.2115_2123dup (p.Ala707_Leu708insPhePheAla)
c.608+295_608+303dup
c.255+295_255+303dup
n.380+295_380+303dup
n.659_667dup
c.2352_2360dup (p.Ala786_Leu787insPhePheAla)
n.2575_2583dup
c.2121_2129dup (p.Ala709_Leu710insPhePheAla)
n.3542_3550dup
n.2321_2329dup
 gnomAD v4
5g.74721732A>CCA360072860GFM2,HEXBc.2263T>G (p.Leu755Val)
c.2122T>G (p.Leu708Val)
c.608+296A>C
c.255+296A>C
n.380+296A>C
n.666T>G
c.2359T>G (p.Leu787Val)
n.2582T>G
c.2128T>G (p.Leu710Val)
n.3549T>G
n.2328T>G
5g.74721732A>GCA444850184GFM2,HEXBc.2263T>C (p.Leu755=)
c.2122T>C (p.Leu708=)
c.608+296A>G
c.255+296A>G
n.380+296A>G
n.666T>C
c.2359T>C (p.Leu787=)
n.2582T>C
c.2128T>C (p.Leu710=)
n.3549T>C
n.2328T>C
5g.74721732A>TCA360072863GFM2,HEXBc.2263T>A (p.Leu755Ile)
c.2122T>A (p.Leu708Ile)
c.608+296A>T
c.255+296A>T
n.380+296A>T
n.666T>A
c.2359T>A (p.Leu787Ile)
n.2582T>A
c.2128T>A (p.Leu710Ile)
n.3549T>A
n.2328T>A
 gnomAD v4
5g.74721733G>ACA3306309GFM2,HEXBc.2262C>T (p.Ala754=)
c.2121C>T (p.Ala707=)
c.608+297G>A
c.255+297G>A
n.380+297G>A
n.665C>T
c.2358C>T (p.Ala786=)
n.2581C>T
c.2127C>T (p.Ala709=)
n.3548C>T
n.2327C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.74721733G>CCA444850186GFM2,HEXBc.2262C>G (p.Ala754=)
c.2121C>G (p.Ala707=)
c.608+297G>C
c.255+297G>C
n.380+297G>C
n.665C>G
c.2358C>G (p.Ala786=)
n.2581C>G
c.2127C>G (p.Ala709=)
n.3548C>G
n.2327C>G
5g.74721733G=CA1555784358GFM2,HEXBc.2262C= (p.Ala754=)
c.2121C= (p.Ala707=)
c.608+297G=
c.255+297G=
n.380+297G=
n.665C=
c.2358C= (p.Ala786=)
n.2581C=
c.2127C= (p.Ala709=)
n.3548C=
n.2327C=
5g.74721733G>TCA444850188GFM2,HEXBc.2262C>A (p.Ala754=)
c.2121C>A (p.Ala707=)
c.608+297G>T
c.255+297G>T
n.380+297G>T
n.665C>A
c.2358C>A (p.Ala786=)
n.2581C>A
c.2127C>A (p.Ala709=)
n.3548C>A
n.2327C>A
5g.74721734G>ACA360072879GFM2,HEXBc.2261C>T (p.Ala754Val)
c.2120C>T (p.Ala707Val)
c.608+298G>A
c.255+298G>A
n.380+298G>A
n.664C>T
c.2357C>T (p.Ala786Val)
n.2580C>T
c.2126C>T (p.Ala709Val)
n.3547C>T
n.2326C>T
5g.74721734G>CCA360072881GFM2,HEXBc.2261C>G (p.Ala754Gly)
c.2120C>G (p.Ala707Gly)
c.608+298G>C
c.255+298G>C
n.380+298G>C
n.664C>G
c.2357C>G (p.Ala786Gly)
n.2580C>G
c.2126C>G (p.Ala709Gly)
n.3547C>G
n.2326C>G
5g.74721734G=CA1555784359GFM2,HEXBc.2261C= (p.Ala754=)
c.2120C= (p.Ala707=)
c.608+298G=
c.255+298G=
n.380+298G=
n.664C=
c.2357C= (p.Ala786=)
n.2580C=
c.2126C= (p.Ala709=)
n.3547C=
n.2326C=
5g.74721734G>TCA360072884GFM2,HEXBc.2261C>A (p.Ala754Asp)
c.2120C>A (p.Ala707Asp)
c.608+298G>T
c.255+298G>T
n.380+298G>T
n.664C>A
c.2357C>A (p.Ala786Asp)
n.2580C>A
c.2126C>A (p.Ala709Asp)
n.3547C>A
n.2326C>A
 dbSNP
5g.74721735C>ACA360072888GFM2,HEXBc.2260G>T (p.Ala754Ser)
c.2119G>T (p.Ala707Ser)
c.608+299C>A
c.255+299C>A
n.380+299C>A
n.663G>T
c.2356G>T (p.Ala786Ser)
n.2579G>T
c.2125G>T (p.Ala709Ser)
n.3546G>T
n.2325G>T
5g.74721735C>GCA360072890GFM2,HEXBc.2260G>C (p.Ala754Pro)
c.2119G>C (p.Ala707Pro)
c.608+299C>G
c.255+299C>G
n.380+299C>G
n.663G>C
c.2356G>C (p.Ala786Pro)
n.2579G>C
c.2125G>C (p.Ala709Pro)
n.3546G>C
n.2325G>C
5g.74721735C>TCA360072891GFM2,HEXBc.2260G>A (p.Ala754Thr)
c.2119G>A (p.Ala707Thr)
c.608+299C>T
c.255+299C>T
n.380+299C>T
n.663G>A
c.2356G>A (p.Ala786Thr)
n.2579G>A
c.2125G>A (p.Ala709Thr)
n.3546G>A
n.2325G>A
5g.74721736A>CCA360072893GFM2,HEXBc.2259T>G (p.Phe753Leu)
c.2118T>G (p.Phe706Leu)
c.608+300A>C
c.255+300A>C
n.380+300A>C
n.662T>G
c.2355T>G (p.Phe785Leu)
n.2578T>G
c.2124T>G (p.Phe708Leu)
n.3545T>G
n.2324T>G
5g.74721736A>GCA444850198GFM2,HEXBc.2259T>C (p.Phe753=)
c.2118T>C (p.Phe706=)
c.608+300A>G
c.255+300A>G
n.380+300A>G
n.662T>C
c.2355T>C (p.Phe785=)
n.2578T>C
c.2124T>C (p.Phe708=)
n.3545T>C
n.2324T>C
 gnomAD v4
5g.74721736A>TCA360072892GFM2,HEXBc.2259T>A (p.Phe753Leu)
c.2118T>A (p.Phe706Leu)
c.608+300A>T
c.255+300A>T
n.380+300A>T
n.662T>A
c.2355T>A (p.Phe785Leu)
n.2578T>A
c.2124T>A (p.Phe708Leu)
n.3545T>A
n.2324T>A
5g.74721739dupCA2674242294GFM2,HEXBc.2259dup (p.Ala754CysfsTer?)
c.2118dup (p.Ala707CysfsTer?)
c.608+303dup
c.255+303dup
n.380+303dup
n.662dup
c.2355dup (p.Ala786CysfsTer?)
n.2578dup
c.2124dup (p.Ala709CysfsTer?)
n.3545dup
n.2324dup
 gnomAD v4
5g.74721739delCA2674242296GFM2,HEXBc.2259del (p.Phe753LeufsTer3)
c.2118del (p.Phe706LeufsTer3)
c.608+303del
c.255+303del
n.380+303del
n.662del
c.2355del (p.Phe785LeufsTer3)
n.2578del
c.2124del (p.Phe708LeufsTer3)
n.3545del
n.2324del
 gnomAD v4
5g.74721737A>CCA360072895GFM2,HEXBc.2258T>G (p.Phe753Cys)
c.2117T>G (p.Phe706Cys)
c.608+301A>C
c.255+301A>C
n.380+301A>C
n.661T>G
c.2354T>G (p.Phe785Cys)
n.2577T>G
c.2123T>G (p.Phe708Cys)
n.3544T>G
n.2323T>G
5g.74721737A>GCA360072898GFM2,HEXBc.2258T>C (p.Phe753Ser)
c.2117T>C (p.Phe706Ser)
c.608+301A>G
c.255+301A>G
n.380+301A>G
n.661T>C
c.2354T>C (p.Phe785Ser)
n.2577T>C
c.2123T>C (p.Phe708Ser)
n.3544T>C
n.2323T>C
5g.74721737A>TCA360072896GFM2,HEXBc.2258T>A (p.Phe753Tyr)
c.2117T>A (p.Phe706Tyr)
c.608+301A>T
c.255+301A>T
n.380+301A>T
n.661T>A
c.2354T>A (p.Phe785Tyr)
n.2577T>A
c.2123T>A (p.Phe708Tyr)
n.3544T>A
n.2323T>A
5g.74721738A>CCA360072902GFM2,HEXBc.2257T>G (p.Phe753Val)
c.2116T>G (p.Phe706Val)
c.608+302A>C
c.255+302A>C
n.380+302A>C
n.660T>G
c.2353T>G (p.Phe785Val)
n.2576T>G
c.2122T>G (p.Phe708Val)
n.3543T>G
n.2322T>G
5g.74721738A>GCA360072903GFM2,HEXBc.2257T>C (p.Phe753Leu)
c.2116T>C (p.Phe706Leu)
c.608+302A>G
c.255+302A>G
n.380+302A>G
n.660T>C
c.2353T>C (p.Phe785Leu)
n.2576T>C
c.2122T>C (p.Phe708Leu)
n.3543T>C
n.2322T>C
5g.74721738A>TCA360072906GFM2,HEXBc.2257T>A (p.Phe753Ile)
c.2116T>A (p.Phe706Ile)
c.608+302A>T
c.255+302A>T
n.380+302A>T
n.660T>A
c.2353T>A (p.Phe785Ile)
n.2576T>A
c.2122T>A (p.Phe708Ile)
n.3543T>A
n.2322T>A
5g.74721738_74721739insCACACCCAACACCA2767029879GFM2,HEXBc.2256_2257insGTGTTGGGTGTG (p.Thr752_Phe753insValLeuGlyVal)
c.2115_2116insGTGTTGGGTGTG (p.Thr705_Phe706insValLeuGlyVal)
c.608+302_608+303insCACACCCAACAC
c.255+302_255+303insCACACCCAACAC
n.380+302_380+303insCACACCCAACAC
n.659_660insGTGTTGGGTGTG
c.2352_2353insGTGTTGGGTGTG (p.Thr784_Phe785insValLeuGlyVal)
n.2575_2576insGTGTTGGGTGTG
c.2121_2122insGTGTTGGGTGTG (p.Thr707_Phe708insValLeuGlyVal)
n.3542_3543insGTGTTGGGTGTG
n.2321_2322insGTGTTGGGTGTG
5g.74721738_74721739insCACACCCAACACACCCAACACCA2767029880GFM2,HEXBc.2256_2257insGTGTTGGGTGTGTTGGGTGTG (p.Thr752_Phe753insValLeuGlyValLeuGlyVal)
c.2115_2116insGTGTTGGGTGTGTTGGGTGTG (p.Thr705_Phe706insValLeuGlyValLeuGlyVal)
c.608+302_608+303insCACACCCAACACACCCAACAC
c.255+302_255+303insCACACCCAACACACCCAACAC
n.380+302_380+303insCACACCCAACACACCCAACAC
n.659_660insGTGTTGGGTGTGTTGGGTGTG
c.2352_2353insGTGTTGGGTGTGTTGGGTGTG (p.Thr784_Phe785insValLeuGlyValLeuGlyVal)
n.2575_2576insGTGTTGGGTGTGTTGGGTGTG
c.2121_2122insGTGTTGGGTGTGTTGGGTGTG (p.Thr707_Phe708insValLeuGlyValLeuGlyVal)
n.3542_3543insGTGTTGGGTGTGTTGGGTGTG
n.2321_2322insGTGTTGGGTGTGTTGGGTGTG
5g.74721739A>CCA444850204GFM2,HEXBc.2256T>G (p.Thr752=)
c.2115T>G (p.Thr705=)
c.608+303A>C
c.255+303A>C
n.380+303A>C
n.659T>G
c.2352T>G (p.Thr784=)
n.2575T>G
c.2121T>G (p.Thr707=)
n.3542T>G
n.2321T>G
5g.74721739A>GCA444850205GFM2,HEXBc.2256T>C (p.Thr752=)
c.2115T>C (p.Thr705=)
c.608+303A>G
c.255+303A>G
n.380+303A>G
n.659T>C
c.2352T>C (p.Thr784=)
n.2575T>C
c.2121T>C (p.Thr707=)
n.3542T>C
n.2321T>C
5g.74721739A>TCA444850207GFM2,HEXBc.2256T>A (p.Thr752=)
c.2115T>A (p.Thr705=)
c.608+303A>T
c.255+303A>T
n.380+303A>T
n.659T>A
c.2352T>A (p.Thr784=)
n.2575T>A
c.2121T>A (p.Thr707=)
n.3542T>A
n.2321T>A
5g.74721740G>ACA360072909GFM2,HEXBc.2255C>T (p.Thr752Ile)
c.2114C>T (p.Thr705Ile)
c.608+304G>A
c.255+304G>A
n.380+304G>A
n.658C>T
c.2351C>T (p.Thr784Ile)
n.2574C>T
c.2120C>T (p.Thr707Ile)
n.3541C>T
n.2320C>T
 dbSNP
5g.74721740G>CCA360072912GFM2,HEXBc.2255C>G (p.Thr752Ser)
c.2114C>G (p.Thr705Ser)
c.608+304G>C
c.255+304G>C
n.380+304G>C
n.658C>G
c.2351C>G (p.Thr784Ser)
n.2574C>G
c.2120C>G (p.Thr707Ser)
n.3541C>G
n.2320C>G
5g.74721740G=CA1555784360GFM2,HEXBc.2255C= (p.Thr752=)
c.2114C= (p.Thr705=)
c.608+304G=
c.255+304G=
n.380+304G=
n.658C=
c.2351C= (p.Thr784=)
n.2574C=
c.2120C= (p.Thr707=)
n.3541C=
n.2320C=
5g.74721740G>TCA360072914GFM2,HEXBc.2255C>A (p.Thr752Asn)
c.2114C>A (p.Thr705Asn)
c.608+304G>T
c.255+304G>T
n.380+304G>T
n.658C>A
c.2351C>A (p.Thr784Asn)
n.2574C>A
c.2120C>A (p.Thr707Asn)
n.3541C>A
n.2320C>A

Number of alleles fetched