Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1047459_1047497delCA2588185623ABCA7c.2074_2112del
n.2754_2792del
c.1660_1698del
n.492_530del
c.1618_1656del
n.2292_2330del
 gnomAD v4
19g.1047476_1047496delinsCGGCTTCGGCTGCGAGAGCCTCA2317482989ABCA7c.2091_2111delinsCGGCTTCGGCTGCGAGAGCCT (p.Phe697=)
n.2771_2791delinsCGGCTTCGGCTGCGAGAGCCT
c.1677_1697delinsCGGCTTCGGCTGCGAGAGCCT (p.Phe559=)
n.509_529delinsCGGCTTCGGCTGCGAGAGCCT
c.1635_1655delinsCGGCTTCGGCTGCGAGAGCCT (p.Phe545=)
n.2309_2329delinsCGGCTTCGGCTGCGAGAGCCT
19g.1047481_1047500delCA783177544ABCA7c.2096_2115del (p.Phe699SerfsTer?)
n.2776_2795del
c.1682_1701del (p.Phe561SerfsTer?)
n.514_533del
c.1640_1659del (p.Phe547SerfsTer?)
n.2314_2333del
 dbSNP gnomAD v3 gnomAD v4
19g.1047492A=CA2317483000ABCA7c.2107A= (p.Ser703=)
n.2787A=
c.1693A= (p.Ser565=)
n.525A=
c.1651A= (p.Ser551=)
n.2325A=
19g.1047492A>CCA402952869ABCA7c.2107A>C (p.Ser703Arg)
n.2787A>C
c.1693A>C (p.Ser565Arg)
n.525A>C
c.1651A>C (p.Ser551Arg)
n.2325A>C
19g.1047492A>GCA303995977ABCA7c.2107A>G (p.Ser703Gly)
n.2787A>G
c.1693A>G (p.Ser565Gly)
n.525A>G
c.1651A>G (p.Ser551Gly)
n.2325A>G
 dbSNP gnomAD v4
19g.1047492A>TCA402952871ABCA7c.2107A>T (p.Ser703Cys)
n.2787A>T
c.1693A>T (p.Ser565Cys)
n.525A>T
c.1651A>T (p.Ser551Cys)
n.2325A>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047493G>ACA402952874ABCA7c.2108G>A (p.Ser703Asn)
n.2788G>A
c.1694G>A (p.Ser565Asn)
n.526G>A
c.1652G>A (p.Ser551Asn)
n.2326G>A
 gnomAD v4 COSMIC
19g.1047493G>CCA402952878ABCA7c.2108G>C (p.Ser703Thr)
n.2788G>C
c.1694G>C (p.Ser565Thr)
n.526G>C
c.1652G>C (p.Ser551Thr)
n.2326G>C
19g.1047493G>TCA402952876ABCA7c.2108G>T (p.Ser703Ile)
n.2788G>T
c.1694G>T (p.Ser565Ile)
n.526G>T
c.1652G>T (p.Ser551Ile)
n.2326G>T
 gnomAD v4
19g.1047494C>ACA402952880ABCA7c.2109C>A (p.Ser703Arg)
n.2789C>A
c.1695C>A (p.Ser565Arg)
n.527C>A
c.1653C>A (p.Ser551Arg)
n.2327C>A
 gnomAD v4
19g.1047494C>GCA402952882ABCA7c.2109C>G (p.Ser703Arg)
n.2789C>G
c.1695C>G (p.Ser565Arg)
n.527C>G
c.1653C>G (p.Ser551Arg)
n.2327C>G
19g.1047494C>TCA504887748ABCA7c.2109C>T (p.Ser703=)
n.2789C>T
c.1695C>T (p.Ser565=)
n.527C>T
c.1653C>T (p.Ser551=)
n.2327C>T
 gnomAD v4
19g.1047495C>ACA402952885ABCA7c.2110C>A (p.Leu704Met)
n.2790C>A
c.1696C>A (p.Leu566Met)
n.528C>A
c.1654C>A (p.Leu552Met)
n.2328C>A
 gnomAD v4
19g.1047495C>GCA402952888ABCA7c.2110C>G (p.Leu704Val)
n.2790C>G
c.1696C>G (p.Leu566Val)
n.528C>G
c.1654C>G (p.Leu552Val)
n.2328C>G
19g.1047495C>TCA504887749ABCA7c.2110C>T (p.Leu704=)
n.2790C>T
c.1696C>T (p.Leu566=)
n.528C>T
c.1654C>T (p.Leu552=)
n.2328C>T
19g.1047496T>ACA402952891ABCA7c.2111T>A (p.Leu704Gln)
n.2791T>A
c.1697T>A (p.Leu566Gln)
n.529T>A
c.1655T>A (p.Leu552Gln)
n.2329T>A
19g.1047496T>CCA402952894ABCA7c.2111T>C (p.Leu704Pro)
n.2791T>C
c.1697T>C (p.Leu566Pro)
n.529T>C
c.1655T>C (p.Leu552Pro)
n.2329T>C
 dbSNP gnomAD v2 gnomAD v4
19g.1047496T>GCA402952897ABCA7c.2111T>G (p.Leu704Arg)
n.2791T>G
c.1697T>G (p.Leu566Arg)
n.529T>G
c.1655T>G (p.Leu552Arg)
n.2329T>G
19g.1047496T=CA2317483001ABCA7c.2111T= (p.Leu704=)
n.2791T=
c.1697T= (p.Leu566=)
n.529T=
c.1655T= (p.Leu552=)
n.2329T=
19g.1047497G>ACA504887750ABCA7c.2112G>A (p.Leu704=)
n.2792G>A
c.1698G>A (p.Leu566=)
n.530G>A
c.1656G>A (p.Leu552=)
n.2330G>A
 gnomAD v4
19g.1047497G>CCA504887751ABCA7c.2112G>C (p.Leu704=)
n.2792G>C
c.1698G>C (p.Leu566=)
n.530G>C
c.1656G>C (p.Leu552=)
n.2330G>C
19g.1047497G>TCA504887752ABCA7c.2112G>T (p.Leu704=)
n.2792G>T
c.1698G>T (p.Leu566=)
n.530G>T
c.1656G>T (p.Leu552=)
n.2330G>T
 gnomAD v4
19g.1047498G>ACA9033308ABCA7c.2113G>A (p.Ala705Thr)
n.2793G>A
c.1699G>A (p.Ala567Thr)
n.531G>A
c.1657G>A (p.Ala553Thr)
n.2331G>A
 dbSNP ExAC gnomAD v4
19g.1047498G>CCA402952902ABCA7c.2113G>C (p.Ala705Pro)
n.2793G>C
c.1699G>C (p.Ala567Pro)
n.531G>C
c.1657G>C (p.Ala553Pro)
n.2331G>C
19g.1047498G=CA2317483002ABCA7c.2113G= (p.Ala705=)
n.2793G=
c.1699G= (p.Ala567=)
n.531G=
c.1657G= (p.Ala553=)
n.2331G=
19g.1047498G>TCA402952905ABCA7c.2113G>T (p.Ala705Ser)
n.2793G>T
c.1699G>T (p.Ala567Ser)
n.531G>T
c.1657G>T (p.Ala553Ser)
n.2331G>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047499C>ACA402952909ABCA7c.2114C>A (p.Ala705Asp)
n.2794C>A
c.1700C>A (p.Ala567Asp)
n.532C>A
c.1658C>A (p.Ala553Asp)
n.2332C>A
 gnomAD v4
19g.1047499C>GCA402952912ABCA7c.2114C>G (p.Ala705Gly)
n.2794C>G
c.1700C>G (p.Ala567Gly)
n.532C>G
c.1658C>G (p.Ala553Gly)
n.2332C>G
19g.1047499C>TCA402952914ABCA7c.2114C>T (p.Ala705Val)
n.2794C>T
c.1700C>T (p.Ala567Val)
n.532C>T
c.1658C>T (p.Ala553Val)
n.2332C>T
 gnomAD v4
19g.1047500T>ACA504887753ABCA7c.2115T>A (p.Ala705=)
n.2795T>A
c.1701T>A (p.Ala567=)
n.533T>A
c.1659T>A (p.Ala553=)
n.2333T>A
19g.1047500T>CCA504887754ABCA7c.2115T>C (p.Ala705=)
n.2795T>C
c.1701T>C (p.Ala567=)
n.533T>C
c.1659T>C (p.Ala553=)
n.2333T>C
19g.1047500T>GCA504887755ABCA7c.2115T>G (p.Ala705=)
n.2795T>G
c.1701T>G (p.Ala567=)
n.533T>G
c.1659T>G (p.Ala553=)
n.2333T>G
19g.1047501C>ACA402952919ABCA7c.2116C>A (p.Leu706Met)
n.2796C>A
c.1702C>A (p.Leu568Met)
n.534C>A
c.1660C>A (p.Leu554Met)
n.2334C>A
 gnomAD v4
19g.1047501C>GCA402952917ABCA7c.2116C>G (p.Leu706Val)
n.2796C>G
c.1702C>G (p.Leu568Val)
n.534C>G
c.1660C>G (p.Leu554Val)
n.2334C>G
19g.1047501C>TCA504887756ABCA7c.2116C>T (p.Leu706=)
n.2796C>T
c.1702C>T (p.Leu568=)
n.534C>T
c.1660C>T (p.Leu554=)
n.2334C>T
 gnomAD v4
19g.1047501_1047502delinsCTCA2317483003ABCA7c.2116_2117delinsCT (p.Leu706=)
n.2796_2797delinsCT
c.1702_1703delinsCT (p.Leu568=)
n.534_535delinsCT
c.1660_1661delinsCT (p.Leu554=)
n.2334_2335delinsCT
19g.1047502delCA783177614ABCA7c.2117del (p.Leu706ArgfsTer?)
n.2797del
c.1703del (p.Leu568ArgfsTer?)
n.535del
c.1661del (p.Leu554ArgfsTer?)
n.2335del
 dbSNP gnomAD v3 gnomAD v4
19g.1047502T>ACA402952922ABCA7c.2117T>A (p.Leu706Gln)
n.2797T>A
c.1703T>A (p.Leu568Gln)
n.535T>A
c.1661T>A (p.Leu554Gln)
n.2335T>A
19g.1047502T>CCA402952925ABCA7c.2117T>C (p.Leu706Pro)
n.2797T>C
c.1703T>C (p.Leu568Pro)
n.535T>C
c.1661T>C (p.Leu554Pro)
n.2335T>C
 dbSNP gnomAD v3 gnomAD v4
19g.1047502T>GCA402952928ABCA7c.2117T>G (p.Leu706Arg)
n.2797T>G
c.1703T>G (p.Leu568Arg)
n.535T>G
c.1661T>G (p.Leu554Arg)
n.2335T>G
19g.1047502T=CA2317483004ABCA7c.2117T= (p.Leu706=)
n.2797T=
c.1703T= (p.Leu568=)
n.535T=
c.1661T= (p.Leu554=)
n.2335T=
19g.1047503G>ACA504887759ABCA7c.2118G>A (p.Leu706=)
n.2798G>A
c.1704G>A (p.Leu568=)
n.536G>A
c.1662G>A (p.Leu554=)
n.2336G>A
 gnomAD v4
19g.1047503G>CCA504887758ABCA7c.2118G>C (p.Leu706=)
n.2798G>C
c.1704G>C (p.Leu568=)
n.536G>C
c.1662G>C (p.Leu554=)
n.2336G>C
 gnomAD v4
19g.1047503G>TCA504887757ABCA7c.2118G>T (p.Leu706=)
n.2798G>T
c.1704G>T (p.Leu568=)
n.536G>T
c.1662G>T (p.Leu554=)
n.2336G>T
 gnomAD v4
19g.1047504C>ACA402952931ABCA7c.2119C>A (p.Leu707Met)
n.2799C>A
c.1705C>A (p.Leu569Met)
n.537C>A
c.1663C>A (p.Leu555Met)
n.2337C>A
 gnomAD v4
19g.1047504C>GCA402952934ABCA7c.2119C>G (p.Leu707Val)
n.2799C>G
c.1705C>G (p.Leu569Val)
n.537C>G
c.1663C>G (p.Leu555Val)
n.2337C>G
19g.1047504C>TCA504887760ABCA7c.2119C>T (p.Leu707=)
n.2799C>T
c.1705C>T (p.Leu569=)
n.537C>T
c.1663C>T (p.Leu555=)
n.2337C>T
 gnomAD v4
19g.1047505T>ACA402952937ABCA7c.2120T>A (p.Leu707Gln)
n.2800T>A
c.1706T>A (p.Leu569Gln)
n.538T>A
c.1664T>A (p.Leu555Gln)
n.2338T>A
19g.1047505T>CCA402952938ABCA7c.2120T>C (p.Leu707Pro)
n.2800T>C
c.1706T>C (p.Leu569Pro)
n.538T>C
c.1664T>C (p.Leu555Pro)
n.2338T>C
19g.1047505T>GCA402952942ABCA7c.2120T>G (p.Leu707Arg)
n.2800T>G
c.1706T>G (p.Leu569Arg)
n.538T>G
c.1664T>G (p.Leu555Arg)
n.2338T>G
19g.1047506G>ACA504887761ABCA7c.2121G>A (p.Leu707=)
n.2801G>A
c.1707G>A (p.Leu569=)
n.539G>A
c.1665G>A (p.Leu555=)
n.2339G>A
 dbSNP gnomAD v4
19g.1047506G>CCA504887762ABCA7c.2121G>C (p.Leu707=)
n.2801G>C
c.1707G>C (p.Leu569=)
n.539G>C
c.1665G>C (p.Leu555=)
n.2339G>C
19g.1047506G=CA2317483005ABCA7c.2121G= (p.Leu707=)
n.2801G=
c.1707G= (p.Leu569=)
n.539G=
c.1665G= (p.Leu555=)
n.2339G=
19g.1047506G>TCA504887763ABCA7c.2121G>T (p.Leu707=)
n.2801G>T
c.1707G>T (p.Leu569=)
n.539G>T
c.1665G>T (p.Leu555=)
n.2339G>T
 gnomAD v4
19g.1047507G>ACA9033310ABCA7c.2122G>A (p.Glu708Lys)
n.2802G>A
c.1708G>A (p.Glu570Lys)
n.540G>A
c.1666G>A (p.Glu556Lys)
n.2340G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047507G>CCA9033309ABCA7c.2122G>C (p.Glu708Gln)
n.2802G>C
c.1708G>C (p.Glu570Gln)
n.540G>C
c.1666G>C (p.Glu556Gln)
n.2340G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047507G=CA2317483006ABCA7c.2122G= (p.Glu708=)
n.2802G=
c.1708G= (p.Glu570=)
n.540G=
c.1666G= (p.Glu556=)
n.2340G=
19g.1047507G>TCA402952949ABCA7c.2122G>T (p.Glu708Ter)
n.2802G>T
c.1708G>T (p.Glu570Ter)
n.540G>T
c.1666G>T (p.Glu556Ter)
n.2340G>T
 gnomAD v4
19g.1047507_1047513delinsGAGGAGCCA2317483007ABCA7c.2122_2128delinsGAGGAGC (p.Glu708=)
n.2802_2808delinsGAGGAGC
c.1708_1714delinsGAGGAGC (p.Glu570=)
n.540_546delinsGAGGAGC
c.1666_1672delinsGAGGAGC (p.Glu556=)
n.2340_2346delinsGAGGAGC
19g.1047508A=CA2317483009ABCA7c.2123A= (p.Glu708=)
n.2803A=
c.1709A= (p.Glu570=)
n.541A=
c.1667A= (p.Glu556=)
n.2341A=
19g.1047508A>CCA402952957ABCA7c.2123A>C (p.Glu708Ala)
n.2803A>C
c.1709A>C (p.Glu570Ala)
n.541A>C
c.1667A>C (p.Glu556Ala)
n.2341A>C
19g.1047508A>GCA402952960ABCA7c.2123A>G (p.Glu708Gly)
n.2803A>G
c.1709A>G (p.Glu570Gly)
n.541A>G
c.1667A>G (p.Glu556Gly)
n.2341A>G
 gnomAD v4
19g.1047508A>TCA402952955ABCA7c.2123A>T (p.Glu708Val)
n.2803A>T
c.1709A>T (p.Glu570Val)
n.541A>T
c.1667A>T (p.Glu556Val)
n.2341A>T
 dbSNP gnomAD v3 gnomAD v4
19g.1047508_1047514delCA2735454247ABCA7c.2123_2129del (p.Glu708GlyfsTer?)
n.2803_2809del
c.1709_1715del (p.Glu570GlyfsTer?)
n.541_547del
c.1667_1673del (p.Glu556GlyfsTer?)
n.2341_2347del
 dbSNP
19g.1047508_1047515delinsAGGAGCAGCA2317483008ABCA7c.2123_2130delinsAGGAGCAG (p.Glu708=)
n.2803_2810delinsAGGAGCAG
c.1709_1716delinsAGGAGCAG (p.Glu570=)
n.541_548delinsAGGAGCAG
c.1667_1674delinsAGGAGCAG (p.Glu556=)
n.2341_2348delinsAGGAGCAG
19g.1047511_1047516delCA358677ABCA7c.2126_2131del (p.Glu709_Gln710del)
n.2806_2811del
c.1712_1717del (p.Glu571_Gln572del)
n.544_549del
c.1670_1675del (p.Glu557_Gln558del)
n.2344_2349del
 dbSNP
19g.1047509G>ACA504887765ABCA7c.2124G>A (p.Glu708=)
n.2804G>A
c.1710G>A (p.Glu570=)
n.542G>A
c.1668G>A (p.Glu556=)
n.2342G>A
 dbSNP gnomAD v4
19g.1047509G>CCA402952965ABCA7c.2124G>C (p.Glu708Asp)
n.2804G>C
c.1710G>C (p.Glu570Asp)
n.542G>C
c.1668G>C (p.Glu556Asp)
n.2342G>C
 gnomAD v4
19g.1047509G=CA2317483010ABCA7c.2124G= (p.Glu708=)
n.2804G=
c.1710G= (p.Glu570=)
n.542G=
c.1668G= (p.Glu556=)
n.2342G=
19g.1047509G>TCA402952968ABCA7c.2124G>T (p.Glu708Asp)
n.2804G>T
c.1710G>T (p.Glu570Asp)
n.542G>T
c.1668G>T (p.Glu556Asp)
n.2342G>T
 gnomAD v4
19g.1047511_1047517delCA9033311ABCA7c.2126_2132del (p.Glu709AlafsTer?)
n.2806_2812del
c.1712_1718del (p.Glu571AlafsTer?)
n.544_550del
c.1670_1676del (p.Glu557AlafsTer?)
n.2344_2350del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047510G>ACA402952976ABCA7c.2125G>A (p.Glu709Lys)
n.2805G>A
c.1711G>A (p.Glu571Lys)
n.543G>A
c.1669G>A (p.Glu557Lys)
n.2343G>A
 gnomAD v4
19g.1047510G>CCA402952978ABCA7c.2125G>C (p.Glu709Gln)
n.2805G>C
c.1711G>C (p.Glu571Gln)
n.543G>C
c.1669G>C (p.Glu557Gln)
n.2343G>C
19g.1047510G>TCA402952981ABCA7c.2125G>T (p.Glu709Ter)
n.2805G>T
c.1711G>T (p.Glu571Ter)
n.543G>T
c.1669G>T (p.Glu557Ter)
n.2343G>T
 gnomAD v4
19g.1047511A>CCA402952982ABCA7c.2126A>C (p.Glu709Ala)
n.2806A>C
c.1712A>C (p.Glu571Ala)
n.544A>C
c.1670A>C (p.Glu557Ala)
n.2344A>C
19g.1047511A>GCA402952983ABCA7c.2126A>G (p.Glu709Gly)
n.2806A>G
c.1712A>G (p.Glu571Gly)
n.544A>G
c.1670A>G (p.Glu557Gly)
n.2344A>G
 gnomAD v4
19g.1047511A>TCA402952984ABCA7c.2126A>T (p.Glu709Val)
n.2806A>T
c.1712A>T (p.Glu571Val)
n.544A>T
c.1670A>T (p.Glu557Val)
n.2344A>T
 gnomAD v4
19g.1047512G>ACA504887769ABCA7c.2127G>A (p.Glu709=)
n.2807G>A
c.1713G>A (p.Glu571=)
n.545G>A
c.1671G>A (p.Glu557=)
n.2345G>A
 gnomAD v4
19g.1047512G>CCA402952986ABCA7c.2127G>C (p.Glu709Asp)
n.2807G>C
c.1713G>C (p.Glu571Asp)
n.545G>C
c.1671G>C (p.Glu557Asp)
n.2345G>C
19g.1047512G>TCA402952988ABCA7c.2127G>T (p.Glu709Asp)
n.2807G>T
c.1713G>T (p.Glu571Asp)
n.545G>T
c.1671G>T (p.Glu557Asp)
n.2345G>T
 gnomAD v4
19g.1047513delCA2588185624ABCA7c.2128del (p.Gln710ArgfsTer?)
n.2808del
c.1714del (p.Gln572ArgfsTer?)
n.546del
c.1672del (p.Gln558ArgfsTer?)
n.2346del
 gnomAD v4
19g.1047513C>ACA402952992ABCA7c.2128C>A (p.Gln710Lys)
n.2808C>A
c.1714C>A (p.Gln572Lys)
n.546C>A
c.1672C>A (p.Gln558Lys)
n.2346C>A
 gnomAD v4
19g.1047513C=CA2317483011ABCA7c.2128C= (p.Gln710=)
n.2808C=
c.1714C= (p.Gln572=)
n.546C=
c.1672C= (p.Gln558=)
n.2346C=
19g.1047513C>GCA402952996ABCA7c.2128C>G (p.Gln710Glu)
n.2808C>G
c.1714C>G (p.Gln572Glu)
n.546C>G
c.1672C>G (p.Gln558Glu)
n.2346C>G
19g.1047513C>TCA402952994ABCA7c.2128C>T (p.Gln710Ter)
n.2808C>T
c.1714C>T (p.Gln572Ter)
n.546C>T
c.1672C>T (p.Gln558Ter)
n.2346C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047514A>CCA402953001ABCA7c.2129A>C (p.Gln710Pro)
n.2809A>C
c.1715A>C (p.Gln572Pro)
n.547A>C
c.1673A>C (p.Gln558Pro)
n.2347A>C
19g.1047514A>GCA402953003ABCA7c.2129A>G (p.Gln710Arg)
n.2809A>G
c.1715A>G (p.Gln572Arg)
n.547A>G
c.1673A>G (p.Gln558Arg)
n.2347A>G
 gnomAD v4
19g.1047514A>TCA402953005ABCA7c.2129A>T (p.Gln710Leu)
n.2809A>T
c.1715A>T (p.Gln572Leu)
n.547A>T
c.1673A>T (p.Gln558Leu)
n.2347A>T
 gnomAD v4
19g.1047514_1047516delinsAGGCA2317483012ABCA7c.2129_2131delinsAGG (p.Gln710=)
n.2809_2811delinsAGG
c.1715_1717delinsAGG (p.Gln572=)
n.547_549delinsAGG
c.1673_1675delinsAGG (p.Gln558=)
n.2347_2349delinsAGG
19g.1047515G>ACA504887771ABCA7c.2130G>A (p.Gln710=)
n.2810G>A
c.1716G>A (p.Gln572=)
n.548G>A
c.1674G>A (p.Gln558=)
n.2348G>A
 gnomAD v4
19g.1047515G>CCA402953010ABCA7c.2130G>C (p.Gln710His)
n.2810G>C
c.1716G>C (p.Gln572His)
n.548G>C
c.1674G>C (p.Gln558His)
n.2348G>C
19g.1047515G>TCA402953011ABCA7c.2130G>T (p.Gln710His)
n.2810G>T
c.1716G>T (p.Gln572His)
n.548G>T
c.1674G>T (p.Gln558His)
n.2348G>T
 gnomAD v4
19g.1047516_1047517delCA631297541ABCA7c.2131_2132del (p.Gly711ArgfsTer?)
n.2811_2812del
c.1717_1718del (p.Gly573ArgfsTer?)
n.549_550del
c.1675_1676del (p.Gly559ArgfsTer?)
n.2349_2350del
 dbSNP gnomAD v2 gnomAD v4
19g.1047516G>ACA402953015ABCA7c.2131G>A (p.Gly711Ser)
n.2811G>A
c.1717G>A (p.Gly573Ser)
n.549G>A
c.1675G>A (p.Gly559Ser)
n.2349G>A
 dbSNP gnomAD v4
19g.1047516G>CCA402953018ABCA7c.2131G>C (p.Gly711Arg)
n.2811G>C
c.1717G>C (p.Gly573Arg)
n.549G>C
c.1675G>C (p.Gly559Arg)
n.2349G>C
19g.1047516G=CA2317483013ABCA7c.2131G= (p.Gly711=)
n.2811G=
c.1717G= (p.Gly573=)
n.549G=
c.1675G= (p.Gly559=)
n.2349G=
19g.1047516G>TCA402953021ABCA7c.2131G>T (p.Gly711Cys)
n.2811G>T
c.1717G>T (p.Gly573Cys)
n.549G>T
c.1675G>T (p.Gly559Cys)
n.2349G>T
 gnomAD v4
19g.1047517G>ACA402953024ABCA7c.2132G>A (p.Gly711Asp)
n.2812G>A
c.1718G>A (p.Gly573Asp)
n.550G>A
c.1676G>A (p.Gly559Asp)
n.2350G>A
 gnomAD v4
19g.1047517G>CCA402953027ABCA7c.2132G>C (p.Gly711Ala)
n.2812G>C
c.1718G>C (p.Gly573Ala)
n.550G>C
c.1676G>C (p.Gly559Ala)
n.2350G>C
19g.1047517G>TCA402953030ABCA7c.2132G>T (p.Gly711Val)
n.2812G>T
c.1718G>T (p.Gly573Val)
n.550G>T
c.1676G>T (p.Gly559Val)
n.2350G>T
 gnomAD v4
19g.1047518C>ACA504887778ABCA7c.2133C>A (p.Gly711=)
n.2813C>A
c.1719C>A (p.Gly573=)
n.551C>A
c.1677C>A (p.Gly559=)
n.2351C>A
 gnomAD v4
19g.1047518C>GCA504887777ABCA7c.2133C>G (p.Gly711=)
n.2813C>G
c.1719C>G (p.Gly573=)
n.551C>G
c.1677C>G (p.Gly559=)
n.2351C>G
19g.1047518C>TCA504887776ABCA7c.2133C>T (p.Gly711=)
n.2813C>T
c.1719C>T (p.Gly573=)
n.551C>T
c.1677C>T (p.Gly559=)
n.2351C>T
 dbSNP gnomAD v4
19g.1047519G>ACA402953035ABCA7c.2134G>A (p.Glu712Lys)
n.2814G>A
c.1720G>A (p.Glu574Lys)
n.552G>A
c.1678G>A (p.Glu560Lys)
n.2352G>A
 ClinVar gnomAD v4
19g.1047519G>CCA402953038ABCA7c.2134G>C (p.Glu712Gln)
n.2814G>C
c.1720G>C (p.Glu574Gln)
n.552G>C
c.1678G>C (p.Glu560Gln)
n.2352G>C
 gnomAD v4
19g.1047519G>TCA402953033ABCA7c.2134G>T (p.Glu712Ter)
n.2814G>T
c.1720G>T (p.Glu574Ter)
n.552G>T
c.1678G>T (p.Glu560Ter)
n.2352G>T
 gnomAD v4
19g.1047520A=CA2317483014ABCA7c.2135A= (p.Glu712=)
n.2815A=
c.1721A= (p.Glu574=)
n.553A=
c.1679A= (p.Glu560=)
n.2353A=
19g.1047520A>CCA402953041ABCA7c.2135A>C (p.Glu712Ala)
n.2815A>C
c.1721A>C (p.Glu574Ala)
n.553A>C
c.1679A>C (p.Glu560Ala)
n.2353A>C
 dbSNP gnomAD v2 gnomAD v4
19g.1047520A>GCA402953043ABCA7c.2135A>G (p.Glu712Gly)
n.2815A>G
c.1721A>G (p.Glu574Gly)
n.553A>G
c.1679A>G (p.Glu560Gly)
n.2353A>G
 gnomAD v4
19g.1047520A>TCA402953047ABCA7c.2135A>T (p.Glu712Val)
n.2815A>T
c.1721A>T (p.Glu574Val)
n.553A>T
c.1679A>T (p.Glu560Val)
n.2353A>T
19g.1047521G>ACA504887783ABCA7c.2136G>A (p.Glu712=)
n.2816G>A
c.1722G>A (p.Glu574=)
n.554G>A
c.1680G>A (p.Glu560=)
n.2354G>A
 gnomAD v4
19g.1047521G>CCA402953052ABCA7c.2136G>C (p.Glu712Asp)
n.2816G>C
c.1722G>C (p.Glu574Asp)
n.554G>C
c.1680G>C (p.Glu560Asp)
n.2354G>C
19g.1047521G>TCA402953055ABCA7c.2136G>T (p.Glu712Asp)
n.2816G>T
c.1722G>T (p.Glu574Asp)
n.554G>T
c.1680G>T (p.Glu560Asp)
n.2354G>T
 gnomAD v4
19g.1047523delCA2588185625ABCA7c.2138del (p.Gly713AlafsTer?)
n.2818del
c.1724del (p.Gly575AlafsTer?)
n.556del
c.1682del (p.Gly561AlafsTer?)
n.2356del
 gnomAD v4
19g.1047522_1047533dupCA9033312ABCA7c.2137_2148dup (p.Trp716_His717insGlyAlaGlnTrp)
n.2817_2828dup
c.1723_1734dup (p.Trp578_His579insGlyAlaGlnTrp)
n.555_566dup
c.1681_1692dup (p.Trp564_His565insGlyAlaGlnTrp)
n.2355_2366dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047522G>ACA402953059ABCA7c.2137G>A (p.Gly713Ser)
n.2817G>A
c.1723G>A (p.Gly575Ser)
n.555G>A
c.1681G>A (p.Gly561Ser)
n.2355G>A
19g.1047522G>CCA402953064ABCA7c.2137G>C (p.Gly713Arg)
n.2817G>C
c.1723G>C (p.Gly575Arg)
n.555G>C
c.1681G>C (p.Gly561Arg)
n.2355G>C
19g.1047522G>TCA402953062ABCA7c.2137G>T (p.Gly713Cys)
n.2817G>T
c.1723G>T (p.Gly575Cys)
n.555G>T
c.1681G>T (p.Gly561Cys)
n.2355G>T
 gnomAD v4
19g.1047523G>ACA303996025ABCA7c.2138G>A (p.Gly713Asp)
n.2818G>A
c.1724G>A (p.Gly575Asp)
n.556G>A
c.1682G>A (p.Gly561Asp)
n.2356G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047523G>CCA402953069ABCA7c.2138G>C (p.Gly713Ala)
n.2818G>C
c.1724G>C (p.Gly575Ala)
n.556G>C
c.1682G>C (p.Gly561Ala)
n.2356G>C
19g.1047523G=CA2317483015ABCA7c.2138G= (p.Gly713=)
n.2818G=
c.1724G= (p.Gly575=)
n.556G=
c.1682G= (p.Gly561=)
n.2356G=
19g.1047523G>TCA402953072ABCA7c.2138G>T (p.Gly713Val)
n.2818G>T
c.1724G>T (p.Gly575Val)
n.556G>T
c.1682G>T (p.Gly561Val)
n.2356G>T
 gnomAD v4
19g.1047524C>ACA504887786ABCA7c.2139C>A (p.Gly713=)
n.2819C>A
c.1725C>A (p.Gly575=)
n.557C>A
c.1683C>A (p.Gly561=)
n.2357C>A
 gnomAD v4
19g.1047524C=CA2317483016ABCA7c.2139C= (p.Gly713=)
n.2819C=
c.1725C= (p.Gly575=)
n.557C=
c.1683C= (p.Gly561=)
n.2357C=
19g.1047524C>GCA9033313ABCA7c.2139C>G (p.Gly713=)
n.2819C>G
c.1725C>G (p.Gly575=)
n.557C>G
c.1683C>G (p.Gly561=)
n.2357C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047524C>TCA504887787ABCA7c.2139C>T (p.Gly713=)
n.2819C>T
c.1725C>T (p.Gly575=)
n.557C>T
c.1683C>T (p.Gly561=)
n.2357C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047525G>ACA9033314ABCA7c.2140G>A (p.Ala714Thr)
n.2820G>A
c.1726G>A (p.Ala576Thr)
n.558G>A
c.1684G>A (p.Ala562Thr)
n.2358G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047525G>CCA402953077ABCA7c.2140G>C (p.Ala714Pro)
n.2820G>C
c.1726G>C (p.Ala576Pro)
n.558G>C
c.1684G>C (p.Ala562Pro)
n.2358G>C
19g.1047525G=CA2317483017ABCA7c.2140G= (p.Ala714=)
n.2820G=
c.1726G= (p.Ala576=)
n.558G=
c.1684G= (p.Ala562=)
n.2358G=
19g.1047525G>TCA402953080ABCA7c.2140G>T (p.Ala714Ser)
n.2820G>T
c.1726G>T (p.Ala576Ser)
n.558G>T
c.1684G>T (p.Ala562Ser)
n.2358G>T
 gnomAD v4
19g.1047526C>ACA402953085ABCA7c.2141C>A (p.Ala714Glu)
n.2821C>A
c.1727C>A (p.Ala576Glu)
n.559C>A
c.1685C>A (p.Ala562Glu)
n.2359C>A
 gnomAD v4
19g.1047526C=CA2317483018ABCA7c.2141C= (p.Ala714=)
n.2821C=
c.1727C= (p.Ala576=)
n.559C=
c.1685C= (p.Ala562=)
n.2359C=
19g.1047526C>GCA402953088ABCA7c.2141C>G (p.Ala714Gly)
n.2821C>G
c.1727C>G (p.Ala576Gly)
n.559C>G
c.1685C>G (p.Ala562Gly)
n.2359C>G
19g.1047526C>TCA9033315ABCA7c.2141C>T (p.Ala714Val)
n.2821C>T
c.1727C>T (p.Ala576Val)
n.559C>T
c.1685C>T (p.Ala562Val)
n.2359C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047527G>ACA9033316ABCA7c.2142G>A (p.Ala714=)
n.2822G>A
c.1728G>A (p.Ala576=)
n.560G>A
c.1686G>A (p.Ala562=)
n.2360G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047527G>CCA504887788ABCA7c.2142G>C (p.Ala714=)
n.2822G>C
c.1728G>C (p.Ala576=)
n.560G>C
c.1686G>C (p.Ala562=)
n.2360G>C
19g.1047527G=CA2317483019ABCA7c.2142G= (p.Ala714=)
n.2822G=
c.1728G= (p.Ala576=)
n.560G=
c.1686G= (p.Ala562=)
n.2360G=
19g.1047527G>TCA504887789ABCA7c.2142G>T (p.Ala714=)
n.2822G>T
c.1728G>T (p.Ala576=)
n.560G>T
c.1686G>T (p.Ala562=)
n.2360G>T
 gnomAD v4
19g.1047528C>ACA402953100ABCA7c.2143C>A (p.Gln715Lys)
n.2823C>A
c.1729C>A (p.Gln577Lys)
n.561C>A
c.1687C>A (p.Gln563Lys)
n.2361C>A
 gnomAD v4
19g.1047528C>GCA402953103ABCA7c.2143C>G (p.Gln715Glu)
n.2823C>G
c.1729C>G (p.Gln577Glu)
n.561C>G
c.1687C>G (p.Gln563Glu)
n.2361C>G
19g.1047528C>TCA402953107ABCA7c.2143C>T (p.Gln715Ter)
n.2823C>T
c.1729C>T (p.Gln577Ter)
n.561C>T
c.1687C>T (p.Gln563Ter)
n.2361C>T
 gnomAD v4 COSMIC
19g.1047529A=CA2317483021ABCA7c.2144A= (p.Gln715=)
n.2824A=
c.1730A= (p.Gln577=)
n.562A=
c.1688A= (p.Gln563=)
n.2362A=
19g.1047529A>CCA402953112ABCA7c.2144A>C (p.Gln715Pro)
n.2824A>C
c.1730A>C (p.Gln577Pro)
n.562A>C
c.1688A>C (p.Gln563Pro)
n.2362A>C
19g.1047529A>GCA9033318ABCA7c.2144A>G (p.Gln715Arg)
n.2824A>G
c.1730A>G (p.Gln577Arg)
n.562A>G
c.1688A>G (p.Gln563Arg)
n.2362A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047529A>TCA402953117ABCA7c.2144A>T (p.Gln715Leu)
n.2824A>T
c.1730A>T (p.Gln577Leu)
n.562A>T
c.1688A>T (p.Gln563Leu)
n.2362A>T
19g.1047529_1047539delinsAGTGGCACAACCA2317483020ABCA7c.2144_2154delinsAGTGGCACAAC (p.Gln715=)
n.2824_2834delinsAGTGGCACAAC
c.1730_1740delinsAGTGGCACAAC (p.Gln577=)
n.562_572delinsAGTGGCACAAC
c.1688_1698delinsAGTGGCACAAC (p.Gln563=)
n.2362_2372delinsAGTGGCACAAC
19g.1047530G>ACA504887791ABCA7c.2145G>A (p.Gln715=)
n.2825G>A
c.1731G>A (p.Gln577=)
n.563G>A
c.1689G>A (p.Gln563=)
n.2363G>A
19g.1047530G>CCA9033319ABCA7c.2145G>C (p.Gln715His)
n.2825G>C
c.1731G>C (p.Gln577His)
n.563G>C
c.1689G>C (p.Gln563His)
n.2363G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047530G=CA2317483022ABCA7c.2145G= (p.Gln715=)
n.2825G=
c.1731G= (p.Gln577=)
n.563G=
c.1689G= (p.Gln563=)
n.2363G=
19g.1047530G>TCA402953127ABCA7c.2145G>T (p.Gln715His)
n.2825G>T
c.1731G>T (p.Gln577His)
n.563G>T
c.1689G>T (p.Gln563His)
n.2363G>T
 gnomAD v4
19g.1047534_1047543delCA9033317ABCA7c.2149_2158del (p.His717AlafsTer?)
n.2829_2838del
c.1735_1744del (p.His579AlafsTer?)
n.567_576del
c.1693_1702del (p.His565AlafsTer?)
n.2367_2376del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047531T>ACA402953137ABCA7c.2146T>A (p.Trp716Arg)
n.2826T>A
c.1732T>A (p.Trp578Arg)
n.564T>A
c.1690T>A (p.Trp564Arg)
n.2364T>A
19g.1047531T>CCA9033320ABCA7c.2146T>C (p.Trp716Arg)
n.2826T>C
c.1732T>C (p.Trp578Arg)
n.564T>C
c.1690T>C (p.Trp564Arg)
n.2364T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047531T>GCA402953139ABCA7c.2146T>G (p.Trp716Gly)
n.2826T>G
c.1732T>G (p.Trp578Gly)
n.564T>G
c.1690T>G (p.Trp564Gly)
n.2364T>G
19g.1047531T=CA2317483023ABCA7c.2146T= (p.Trp716=)
n.2826T=
c.1732T= (p.Trp578=)
n.564T=
c.1690T= (p.Trp564=)
n.2364T=
19g.1047532G>ACA402953146ABCA7c.2147G>A (p.Trp716Ter)
n.2827G>A
c.1733G>A (p.Trp578Ter)
n.565G>A
c.1691G>A (p.Trp564Ter)
n.2365G>A
 dbSNP gnomAD v2 gnomAD v4
19g.1047532G>CCA402953148ABCA7c.2147G>C (p.Trp716Ser)
n.2827G>C
c.1733G>C (p.Trp578Ser)
n.565G>C
c.1691G>C (p.Trp564Ser)
n.2365G>C
19g.1047532G=CA2317483024ABCA7c.2147G= (p.Trp716=)
n.2827G=
c.1733G= (p.Trp578=)
n.565G=
c.1691G= (p.Trp564=)
n.2365G=
19g.1047532G>TCA402953150ABCA7c.2147G>T (p.Trp716Leu)
n.2827G>T
c.1733G>T (p.Trp578Leu)
n.565G>T
c.1691G>T (p.Trp564Leu)
n.2365G>T
 gnomAD v4
19g.1047533G>ACA402953157ABCA7c.2148G>A (p.Trp716Ter)
n.2828G>A
c.1734G>A (p.Trp578Ter)
n.566G>A
c.1692G>A (p.Trp564Ter)
n.2366G>A
 gnomAD v4 COSMIC
19g.1047533G>CCA402953159ABCA7c.2148G>C (p.Trp716Cys)
n.2828G>C
c.1734G>C (p.Trp578Cys)
n.566G>C
c.1692G>C (p.Trp564Cys)
n.2366G>C
 gnomAD v4
19g.1047533G>TCA402953163ABCA7c.2148G>T (p.Trp716Cys)
n.2828G>T
c.1734G>T (p.Trp578Cys)
n.566G>T
c.1692G>T (p.Trp564Cys)
n.2366G>T
 gnomAD v4
19g.1047534C>ACA402953171ABCA7c.2149C>A (p.His717Asn)
n.2829C>A
c.1735C>A (p.His579Asn)
n.567C>A
c.1693C>A (p.His565Asn)
n.2367C>A
 gnomAD v4
19g.1047534C=CA2317483025ABCA7c.2149C= (p.His717=)
n.2829C=
c.1735C= (p.His579=)
n.567C=
c.1693C= (p.His565=)
n.2367C=
19g.1047534C>GCA402953164ABCA7c.2149C>G (p.His717Asp)
n.2829C>G
c.1735C>G (p.His579Asp)
n.567C>G
c.1693C>G (p.His565Asp)
n.2367C>G
19g.1047534C>TCA402953166ABCA7c.2149C>T (p.His717Tyr)
n.2829C>T
c.1735C>T (p.His579Tyr)
n.567C>T
c.1693C>T (p.His565Tyr)
n.2367C>T
 dbSNP gnomAD v4
19g.1047535A>CCA402953174ABCA7c.2150A>C (p.His717Pro)
n.2830A>C
c.1736A>C (p.His579Pro)
n.568A>C
c.1694A>C (p.His565Pro)
n.2368A>C
19g.1047535A>GCA402953180ABCA7c.2150A>G (p.His717Arg)
n.2830A>G
c.1736A>G (p.His579Arg)
n.568A>G
c.1694A>G (p.His565Arg)
n.2368A>G
 gnomAD v4
19g.1047535A>TCA402953183ABCA7c.2150A>T (p.His717Leu)
n.2830A>T
c.1736A>T (p.His579Leu)
n.568A>T
c.1694A>T (p.His565Leu)
n.2368A>T
19g.1047537_1047539delCA2588185626ABCA7c.2152_2154del (p.Asn718del)
n.2832_2834del
c.1738_1740del (p.Asn580del)
n.570_572del
c.1696_1698del (p.Asn566del)
n.2370_2372del
 gnomAD v4
19g.1047536C>ACA402953187ABCA7c.2151C>A (p.His717Gln)
n.2831C>A
c.1737C>A (p.His579Gln)
n.569C>A
c.1695C>A (p.His565Gln)
n.2369C>A
19g.1047536C=CA2317483026ABCA7c.2151C= (p.His717=)
n.2831C=
c.1737C= (p.His579=)
n.569C=
c.1695C= (p.His565=)
n.2369C=
19g.1047536C>GCA402953190ABCA7c.2151C>G (p.His717Gln)
n.2831C>G
c.1737C>G (p.His579Gln)
n.569C>G
c.1695C>G (p.His565Gln)
n.2369C>G
 dbSNP gnomAD v3 gnomAD v4
19g.1047536C>TCA504887798ABCA7c.2151C>T (p.His717=)
n.2831C>T
c.1737C>T (p.His579=)
n.569C>T
c.1695C>T (p.His565=)
n.2369C>T
 gnomAD v4
19g.1047537A>CCA402953195ABCA7c.2152A>C (p.Asn718His)
n.2832A>C
c.1738A>C (p.Asn580His)
n.570A>C
c.1696A>C (p.Asn566His)
n.2370A>C
19g.1047537A>GCA402953203ABCA7c.2152A>G (p.Asn718Asp)
n.2832A>G
c.1738A>G (p.Asn580Asp)
n.570A>G
c.1696A>G (p.Asn566Asp)
n.2370A>G
19g.1047537A>TCA402953200ABCA7c.2152A>T (p.Asn718Tyr)
n.2832A>T
c.1738A>T (p.Asn580Tyr)
n.570A>T
c.1696A>T (p.Asn566Tyr)
n.2370A>T
19g.1047538A=CA2317483027ABCA7c.2153A= (p.Asn718=)
n.2833A=
c.1739A= (p.Asn580=)
n.571A=
c.1697A= (p.Asn566=)
n.2371A=
19g.1047538A>CCA9033321ABCA7c.2153A>C (p.Asn718Thr)
n.2833A>C
c.1739A>C (p.Asn580Thr)
n.571A>C
c.1697A>C (p.Asn566Thr)
n.2371A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047538A>GCA402953210ABCA7c.2153A>G (p.Asn718Ser)
n.2833A>G
c.1739A>G (p.Asn580Ser)
n.571A>G
c.1697A>G (p.Asn566Ser)
n.2371A>G
 dbSNP
19g.1047538A>TCA402953214ABCA7c.2153A>T (p.Asn718Ile)
n.2833A>T
c.1739A>T (p.Asn580Ile)
n.571A>T
c.1697A>T (p.Asn566Ile)
n.2371A>T
 gnomAD v4
19g.1047539C>ACA402953218ABCA7c.2154C>A (p.Asn718Lys)
n.2834C>A
c.1740C>A (p.Asn580Lys)
n.572C>A
c.1698C>A (p.Asn566Lys)
n.2372C>A
 gnomAD v4 COSMIC
19g.1047539C=CA2317483028ABCA7c.2154C= (p.Asn718=)
n.2834C=
c.1740C= (p.Asn580=)
n.572C=
c.1698C= (p.Asn566=)
n.2372C=
19g.1047539C>GCA9033322ABCA7c.2154C>G (p.Asn718Lys)
n.2834C>G
c.1740C>G (p.Asn580Lys)
n.572C>G
c.1698C>G (p.Asn566Lys)
n.2372C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047539C>TCA504887802ABCA7c.2154C>T (p.Asn718=)
n.2834C>T
c.1740C>T (p.Asn580=)
n.572C>T
c.1698C>T (p.Asn566=)
n.2372C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047540G>ACA402953224ABCA7c.2155G>A (p.Val719Met)
n.2835G>A
c.1741G>A (p.Val581Met)
n.573G>A
c.1699G>A (p.Val567Met)
n.2373G>A
 dbSNP gnomAD v4
19g.1047540G>CCA402953229ABCA7c.2155G>C (p.Val719Leu)
n.2835G>C
c.1741G>C (p.Val581Leu)
n.573G>C
c.1699G>C (p.Val567Leu)
n.2373G>C
19g.1047540G=CA2317483029ABCA7c.2155G= (p.Val719=)
n.2835G=
c.1741G= (p.Val581=)
n.573G=
c.1699G= (p.Val567=)
n.2373G=
19g.1047540G>TCA402953232ABCA7c.2155G>T (p.Val719Leu)
n.2835G>T
c.1741G>T (p.Val581Leu)
n.573G>T
c.1699G>T (p.Val567Leu)
n.2373G>T
 gnomAD v4
19g.1047541T>ACA402953242ABCA7c.2156T>A (p.Val719Glu)
n.2836T>A
c.1742T>A (p.Val581Glu)
n.574T>A
c.1700T>A (p.Val567Glu)
n.2374T>A
19g.1047541T>CCA402953246ABCA7c.2156T>C (p.Val719Ala)
n.2836T>C
c.1742T>C (p.Val581Ala)
n.574T>C
c.1700T>C (p.Val567Ala)
n.2374T>C
 gnomAD v4
19g.1047541T>GCA402953248ABCA7c.2156T>G (p.Val719Gly)
n.2836T>G
c.1742T>G (p.Val581Gly)
n.574T>G
c.1700T>G (p.Val567Gly)
n.2374T>G
 gnomAD v4
19g.1047542G>ACA504887805ABCA7c.2157G>A (p.Val719=)
n.2837G>A
c.1743G>A (p.Val581=)
n.575G>A
c.1701G>A (p.Val567=)
n.2375G>A
 gnomAD v4
19g.1047542G>CCA504887806ABCA7c.2157G>C (p.Val719=)
n.2837G>C
c.1743G>C (p.Val581=)
n.575G>C
c.1701G>C (p.Val567=)
n.2375G>C
 gnomAD v4
19g.1047542G>TCA504887807ABCA7c.2157G>T (p.Val719=)
n.2837G>T
c.1743G>T (p.Val581=)
n.575G>T
c.1701G>T (p.Val567=)
n.2375G>T
 gnomAD v4
19g.1047543G>ACA402953258ABCA7c.2158G>A (p.Gly720Ser)
n.2838G>A
c.1744G>A (p.Gly582Ser)
n.576G>A
c.1702G>A (p.Gly568Ser)
n.2376G>A
 ClinVar dbSNP gnomAD v4
19g.1047543G>CCA402953254ABCA7c.2158G>C (p.Gly720Arg)
n.2838G>C
c.1744G>C (p.Gly582Arg)
n.576G>C
c.1702G>C (p.Gly568Arg)
n.2376G>C
19g.1047543G=CA2317483030ABCA7c.2158G= (p.Gly720=)
n.2838G=
c.1744G= (p.Gly582=)
n.576G=
c.1702G= (p.Gly568=)
n.2376G=
19g.1047543G>TCA402953252ABCA7c.2158G>T (p.Gly720Cys)
n.2838G>T
c.1744G>T (p.Gly582Cys)
n.576G>T
c.1702G>T (p.Gly568Cys)
n.2376G>T
 gnomAD v4
19g.1047544G>ACA402953264ABCA7c.2159G>A (p.Gly720Asp)
n.2839G>A
c.1745G>A (p.Gly582Asp)
n.577G>A
c.1703G>A (p.Gly568Asp)
n.2377G>A
 gnomAD v4
19g.1047544G>CCA402953261ABCA7c.2159G>C (p.Gly720Ala)
n.2839G>C
c.1745G>C (p.Gly582Ala)
n.577G>C
c.1703G>C (p.Gly568Ala)
n.2377G>C
 gnomAD v4
19g.1047544G>TCA402953267ABCA7c.2159G>T (p.Gly720Val)
n.2839G>T
c.1745G>T (p.Gly582Val)
n.577G>T
c.1703G>T (p.Gly568Val)
n.2377G>T
 gnomAD v4 COSMIC
19g.1047545C>ACA504887808ABCA7c.2160C>A (p.Gly720=)
n.2840C>A
c.1746C>A (p.Gly582=)
n.578C>A
c.1704C>A (p.Gly568=)
n.2378C>A
c.-109C>A (n.-109C>A)
 gnomAD v4
19g.1047545C=CA2317483031ABCA7c.2160C= (p.Gly720=)
n.2840C=
c.1746C= (p.Gly582=)
n.578C=
c.1704C= (p.Gly568=)
n.2378C=
c.-109C= (n.-109C=)
19g.1047545C>GCA504887809ABCA7c.2160C>G (p.Gly720=)
n.2840C>G
c.1746C>G (p.Gly582=)
n.578C>G
c.1704C>G (p.Gly568=)
n.2378C>G
c.-109C>G (n.-109C>G)
19g.1047545C>TCA504887810ABCA7c.2160C>T (p.Gly720=)
n.2840C>T
c.1746C>T (p.Gly582=)
n.578C>T
c.1704C>T (p.Gly568=)
n.2378C>T
c.-109C>T (n.-109C>T)
 dbSNP gnomAD v4
19g.1047546A>CCA402953271ABCA7c.2161A>C (p.Thr721Pro)
n.2841A>C
c.1747A>C (p.Thr583Pro)
n.579A>C
c.1705A>C (p.Thr569Pro)
n.2379A>C
c.-108A>C (n.-108A>C)
19g.1047546A>GCA402953275ABCA7c.2161A>G (p.Thr721Ala)
n.2841A>G
c.1747A>G (p.Thr583Ala)
n.579A>G
c.1705A>G (p.Thr569Ala)
n.2379A>G
c.-108A>G (n.-108A>G)
19g.1047546A>TCA402953279ABCA7c.2161A>T (p.Thr721Ser)
n.2841A>T
c.1747A>T (p.Thr583Ser)
n.579A>T
c.1705A>T (p.Thr569Ser)
n.2379A>T
c.-108A>T (n.-108A>T)
19g.1047547C>ACA402953288ABCA7c.2162C>A (p.Thr721Asn)
n.2842C>A
c.1748C>A (p.Thr583Asn)
n.580C>A
c.1706C>A (p.Thr569Asn)
c.-107C>A (n.-107C>A)
n.2380C>A
 dbSNP gnomAD v4
19g.1047547C=CA2317483032ABCA7c.2162C= (p.Thr721=)
n.2842C=
c.1748C= (p.Thr583=)
n.580C=
c.1706C= (p.Thr569=)
c.-107C= (n.-107C=)
n.2380C=
19g.1047547C>GCA402953292ABCA7c.2162C>G (p.Thr721Ser)
n.2842C>G
c.1748C>G (p.Thr583Ser)
n.580C>G
c.1706C>G (p.Thr569Ser)
c.-107C>G (n.-107C>G)
n.2380C>G
 gnomAD v4
19g.1047547C>TCA402953294ABCA7c.2162C>T (p.Thr721Ile)
n.2842C>T
c.1748C>T (p.Thr583Ile)
n.580C>T
c.1706C>T (p.Thr569Ile)
c.-107C>T (n.-107C>T)
n.2380C>T
 dbSNP gnomAD v3 gnomAD v4
19g.1047548C>ACA504887811ABCA7c.2163C>A (p.Thr721=)
n.2843C>A
c.1749C>A (p.Thr583=)
n.581C>A
c.1707C>A (p.Thr569=)
c.-106C>A (n.-106C>A)
n.2381C>A
 gnomAD v4
19g.1047548C>GCA504887813ABCA7c.2163C>G (p.Thr721=)
n.2843C>G
c.1749C>G (p.Thr583=)
n.581C>G
c.1707C>G (p.Thr569=)
c.-106C>G (n.-106C>G)
n.2381C>G
19g.1047548C>TCA504887814ABCA7c.2163C>T (p.Thr721=)
n.2843C>T
c.1749C>T (p.Thr583=)
n.581C>T
c.1707C>T (p.Thr569=)
c.-106C>T (n.-106C>T)
n.2381C>T
 dbSNP gnomAD v3 gnomAD v4
19g.1047549C>ACA504887815ABCA7c.2164C>A (p.Arg722=)
n.2844C>A
c.1750C>A (p.Arg584=)
n.582C>A
c.1708C>A (p.Arg570=)
c.-105C>A (n.-105C>A)
n.2382C>A
 gnomAD v4
19g.1047549C=CA2317483033ABCA7c.2164C= (p.Arg722=)
n.2844C=
c.1750C= (p.Arg584=)
n.582C=
c.1708C= (p.Arg570=)
c.-105C= (n.-105C=)
n.2382C=
19g.1047549C>GCA402953299ABCA7c.2164C>G (p.Arg722Gly)
n.2844C>G
c.1750C>G (p.Arg584Gly)
n.582C>G
c.1708C>G (p.Arg570Gly)
c.-105C>G (n.-105C>G)
n.2382C>G
 gnomAD v4
19g.1047549C>TCA402953297ABCA7c.2164C>T (p.Arg722Trp)
n.2844C>T
c.1750C>T (p.Arg584Trp)
n.582C>T
c.1708C>T (p.Arg570Trp)
c.-105C>T (n.-105C>T)
n.2382C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047550G>ACA402953302ABCA7c.2165G>A (p.Arg722Gln)
n.2845G>A
c.1751G>A (p.Arg584Gln)
n.583G>A
c.1709G>A (p.Arg570Gln)
c.-104G>A (n.-104G>A)
n.2383G>A
 dbSNP gnomAD v4
19g.1047550G>CCA402953304ABCA7c.2165G>C (p.Arg722Pro)
n.2845G>C
c.1751G>C (p.Arg584Pro)
n.583G>C
c.1709G>C (p.Arg570Pro)
c.-104G>C (n.-104G>C)
n.2383G>C
19g.1047550G=CA2317483034ABCA7c.2165G= (p.Arg722=)
n.2845G=
c.1751G= (p.Arg584=)
n.583G=
c.1709G= (p.Arg570=)
c.-104G= (n.-104G=)
n.2383G=
19g.1047550G>TCA402953310ABCA7c.2165G>T (p.Arg722Leu)
n.2845G>T
c.1751G>T (p.Arg584Leu)
n.583G>T
c.1709G>T (p.Arg570Leu)
c.-104G>T (n.-104G>T)
n.2383G>T
 gnomAD v4
19g.1047551G>ACA504887816ABCA7c.2166G>A (p.Arg722=)
n.2846G>A
c.1752G>A (p.Arg584=)
n.584G>A
c.1710G>A (p.Arg570=)
c.-103G>A (n.-103G>A)
n.2384G>A
 gnomAD v4 COSMIC
19g.1047551G>CCA504887817ABCA7c.2166G>C (p.Arg722=)
n.2846G>C
c.1752G>C (p.Arg584=)
n.584G>C
c.1710G>C (p.Arg570=)
c.-103G>C (n.-103G>C)
n.2384G>C
 gnomAD v4
19g.1047551G>TCA504887818ABCA7c.2166G>T (p.Arg722=)
n.2846G>T
c.1752G>T (p.Arg584=)
n.584G>T
c.1710G>T (p.Arg570=)
c.-103G>T (n.-103G>T)
n.2384G>T
 gnomAD v4
19g.1047552C>ACA402953316ABCA7c.2167C>A (p.Pro723Thr)
n.2847C>A
c.1753C>A (p.Pro585Thr)
n.585C>A
c.1711C>A (p.Pro571Thr)
c.-102C>A (n.-102C>A)
n.2385C>A
 gnomAD v4
19g.1047552C=CA2317483035ABCA7c.2167C= (p.Pro723=)
n.2847C=
c.1753C= (p.Pro585=)
n.585C=
c.1711C= (p.Pro571=)
c.-102C= (n.-102C=)
n.2385C=
19g.1047552C>GCA402953320ABCA7c.2167C>G (p.Pro723Ala)
n.2847C>G
c.1753C>G (p.Pro585Ala)
n.585C>G
c.1711C>G (p.Pro571Ala)
c.-102C>G (n.-102C>G)
n.2385C>G
19g.1047552C>TCA402953323ABCA7c.2167C>T (p.Pro723Ser)
n.2847C>T
c.1753C>T (p.Pro585Ser)
n.585C>T
c.1711C>T (p.Pro571Ser)
c.-102C>T (n.-102C>T)
n.2385C>T
 dbSNP gnomAD v4 COSMIC
19g.1047553C>ACA402953330ABCA7c.2168C>A (p.Pro723His)
n.2848C>A
c.1754C>A (p.Pro585His)
n.586C>A
c.1712C>A (p.Pro571His)
c.-101C>A (n.-101C>A)
n.2386C>A
19g.1047553C=CA2317483036ABCA7c.2168C= (p.Pro723=)
n.2848C=
c.1754C= (p.Pro585=)
n.586C=
c.1712C= (p.Pro571=)
c.-101C= (n.-101C=)
n.2386C=
19g.1047553C>GCA402953326ABCA7c.2168C>G (p.Pro723Arg)
n.2848C>G
c.1754C>G (p.Pro585Arg)
n.586C>G
c.1712C>G (p.Pro571Arg)
c.-101C>G (n.-101C>G)
n.2386C>G
 dbSNP gnomAD v4
19g.1047553C>TCA402953328ABCA7c.2168C>T (p.Pro723Leu)
n.2848C>T
c.1754C>T (p.Pro585Leu)
n.586C>T
c.1712C>T (p.Pro571Leu)
c.-101C>T (n.-101C>T)
n.2386C>T
 gnomAD v4
19g.1047554T>ACA504887819ABCA7c.2169T>A (p.Pro723=)
n.2849T>A
c.1755T>A (p.Pro585=)
n.587T>A
c.1713T>A (p.Pro571=)
c.-100T>A (n.-100T>A)
n.2387T>A
 gnomAD v4
19g.1047554T>CCA504887820ABCA7c.2169T>C (p.Pro723=)
n.2849T>C
c.1755T>C (p.Pro585=)
n.587T>C
c.1713T>C (p.Pro571=)
c.-100T>C (n.-100T>C)
n.2387T>C
 dbSNP gnomAD v2 gnomAD v4
19g.1047554T>GCA504887821ABCA7c.2169T>G (p.Pro723=)
n.2849T>G
c.1755T>G (p.Pro585=)
n.587T>G
c.1713T>G (p.Pro571=)
c.-100T>G (n.-100T>G)
n.2387T>G
 gnomAD v4
19g.1047554T=CA2317483037ABCA7c.2169T= (p.Pro723=)
n.2849T=
c.1755T= (p.Pro585=)
n.587T=
c.1713T= (p.Pro571=)
c.-100T= (n.-100T=)
n.2387T=
19g.1047555A>CCA402953333ABCA7c.2170A>C (p.Thr724Pro)
n.2850A>C
c.1756A>C (p.Thr586Pro)
c.1714A>C (p.Thr572Pro)
c.-99A>C (n.-99A>C)
n.2388A>C
19g.1047555A>GCA402953336ABCA7c.2170A>G (p.Thr724Ala)
n.2850A>G
c.1756A>G (p.Thr586Ala)
c.1714A>G (p.Thr572Ala)
c.-99A>G (n.-99A>G)
n.2388A>G
19g.1047555A>TCA402953338ABCA7c.2170A>T (p.Thr724Ser)
n.2850A>T
c.1756A>T (p.Thr586Ser)
c.1714A>T (p.Thr572Ser)
c.-99A>T (n.-99A>T)
n.2388A>T
19g.1047556C>ACA402953343ABCA7c.2171C>A (p.Thr724Lys)
n.2851C>A
c.1757C>A (p.Thr586Lys)
c.1715C>A (p.Thr572Lys)
c.-98C>A (n.-98C>A)
n.2389C>A
 gnomAD v4
19g.1047556C=CA2317483038ABCA7c.2171C= (p.Thr724=)
n.2851C=
c.1757C= (p.Thr586=)
c.1715C= (p.Thr572=)
c.-98C= (n.-98C=)
n.2389C=
19g.1047556C>GCA402953348ABCA7c.2171C>G (p.Thr724Arg)
n.2851C>G
c.1757C>G (p.Thr586Arg)
c.1715C>G (p.Thr572Arg)
c.-98C>G (n.-98C>G)
n.2389C>G
19g.1047556C>TCA9033323ABCA7c.2171C>T (p.Thr724Met)
n.2851C>T
c.1757C>T (p.Thr586Met)
c.1715C>T (p.Thr572Met)
c.-98C>T (n.-98C>T)
n.2389C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047557G>ACA9033324ABCA7c.2172G>A (p.Thr724=)
n.2852G>A
c.1758G>A (p.Thr586=)
c.1716G>A (p.Thr572=)
c.-97G>A (n.-97G>A)
n.2390G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047557G>CCA504887822ABCA7c.2172G>C (p.Thr724=)
n.2852G>C
c.1758G>C (p.Thr586=)
c.1716G>C (p.Thr572=)
c.-97G>C (n.-97G>C)
n.2390G>C
 gnomAD v4
19g.1047557G=CA2317483039ABCA7c.2172G= (p.Thr724=)
n.2852G=
c.1758G= (p.Thr586=)
c.1716G= (p.Thr572=)
c.-97G= (n.-97G=)
n.2390G=
19g.1047557G>TCA504887823ABCA7c.2172G>T (p.Thr724=)
n.2852G>T
c.1758G>T (p.Thr586=)
c.1716G>T (p.Thr572=)
c.-97G>T (n.-97G>T)
n.2390G>T
 gnomAD v4
19g.1047558G>ACA9033325ABCA7c.2173G>A (p.Ala725Thr)
n.2853G>A
c.1759G>A (p.Ala587Thr)
c.1717G>A (p.Ala573Thr)
c.-96G>A (n.-96G>A)
n.2391G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047558G>CCA402953360ABCA7c.2173G>C (p.Ala725Pro)
n.2853G>C
c.1759G>C (p.Ala587Pro)
c.1717G>C (p.Ala573Pro)
c.-96G>C (n.-96G>C)
n.2391G>C
19g.1047558G=CA2317483040ABCA7c.2173G= (p.Ala725=)
n.2853G=
c.1759G= (p.Ala587=)
c.1717G= (p.Ala573=)
c.-96G= (n.-96G=)
n.2391G=
19g.1047558G>TCA402953364ABCA7c.2173G>T (p.Ala725Ser)
n.2853G>T
c.1759G>T (p.Ala587Ser)
c.1717G>T (p.Ala573Ser)
c.-96G>T (n.-96G>T)
n.2391G>T
 gnomAD v4
19g.1047559C>ACA402953370ABCA7c.2174C>A (p.Ala725Glu)
n.2854C>A
c.1760C>A (p.Ala587Glu)
c.1718C>A (p.Ala573Glu)
c.-95C>A (n.-95C>A)
n.2392C>A
19g.1047559C>GCA402953371ABCA7c.2174C>G (p.Ala725Gly)
n.2854C>G
c.1760C>G (p.Ala587Gly)
c.1718C>G (p.Ala573Gly)
c.-95C>G (n.-95C>G)
n.2392C>G
19g.1047559C>TCA402953376ABCA7c.2174C>T (p.Ala725Val)
n.2854C>T
c.1760C>T (p.Ala587Val)
c.1718C>T (p.Ala573Val)
c.-95C>T (n.-95C>T)
n.2392C>T
 gnomAD v4
19g.1047560A>CCA504887828ABCA7c.2175A>C (p.Ala725=)
n.2855A>C
c.1761A>C (p.Ala587=)
c.1719A>C (p.Ala573=)
c.-94A>C (n.-94A>C)
n.2393A>C
 gnomAD v4
19g.1047560A>GCA504887825ABCA7c.2175A>G (p.Ala725=)
n.2855A>G
c.1761A>G (p.Ala587=)
c.1719A>G (p.Ala573=)
c.-94A>G (n.-94A>G)
n.2393A>G
19g.1047560A>TCA504887824ABCA7c.2175A>T (p.Ala725=)
n.2855A>T
c.1761A>T (p.Ala587=)
c.1719A>T (p.Ala573=)
c.-94A>T (n.-94A>T)
n.2393A>T
19g.1047561G>ACA402953380ABCA7c.2176G>A (p.Asp726Asn)
n.2856G>A
c.1762G>A (p.Asp588Asn)
c.1720G>A (p.Asp574Asn)
c.-93G>A (n.-93G>A)
n.2394G>A
19g.1047561G>CCA402953386ABCA7c.2176G>C (p.Asp726His)
n.2856G>C
c.1762G>C (p.Asp588His)
c.1720G>C (p.Asp574His)
c.-93G>C (n.-93G>C)
n.2394G>C
19g.1047561G=CA2317483041ABCA7c.2176G= (p.Asp726=)
n.2856G=
c.1762G= (p.Asp588=)
c.1720G= (p.Asp574=)
c.-93G= (n.-93G=)
n.2394G=
19g.1047561G>TCA9033326ABCA7c.2176G>T (p.Asp726Tyr)
n.2856G>T
c.1762G>T (p.Asp588Tyr)
c.1720G>T (p.Asp574Tyr)
c.-93G>T (n.-93G>T)
n.2394G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047562A>CCA402953391ABCA7c.2177A>C (p.Asp726Ala)
n.2857A>C
c.1763A>C (p.Asp588Ala)
c.1721A>C (p.Asp574Ala)
c.-92A>C (n.-92A>C)
n.2395A>C
19g.1047562A>GCA402953394ABCA7c.2177A>G (p.Asp726Gly)
n.2857A>G
c.1763A>G (p.Asp588Gly)
c.1721A>G (p.Asp574Gly)
c.-92A>G (n.-92A>G)
n.2395A>G
 gnomAD v4
19g.1047562A>TCA402953398ABCA7c.2177A>T (p.Asp726Val)
n.2857A>T
c.1763A>T (p.Asp588Val)
c.1721A>T (p.Asp574Val)
c.-92A>T (n.-92A>T)
n.2395A>T
19g.1047563C>ACA402953402ABCA7c.2178C>A (p.Asp726Glu)
n.2858C>A
c.1764C>A (p.Asp588Glu)
c.1722C>A (p.Asp574Glu)
c.-91C>A (n.-91C>A)
n.2396C>A
19g.1047563C>GCA402953407ABCA7c.2178C>G (p.Asp726Glu)
n.2858C>G
c.1764C>G (p.Asp588Glu)
c.1722C>G (p.Asp574Glu)
c.-91C>G (n.-91C>G)
n.2396C>G
19g.1047563C>TCA504887830ABCA7c.2178C>T (p.Asp726=)
n.2858C>T
c.1764C>T (p.Asp588=)
c.1722C>T (p.Asp574=)
c.-91C>T (n.-91C>T)
n.2396C>T
 gnomAD v4
19g.1047564G>ACA402953412ABCA7c.2179G>A (p.Val727Ile)
n.2859G>A
c.1765G>A (p.Val589Ile)
c.1723G>A (p.Val575Ile)
c.-90G>A (n.-90G>A)
n.2397G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047564G>CCA402953416ABCA7c.2179G>C (p.Val727Leu)
n.2859G>C
c.1765G>C (p.Val589Leu)
c.1723G>C (p.Val575Leu)
c.-90G>C (n.-90G>C)
n.2397G>C
 gnomAD v4
19g.1047564G=CA2317483042ABCA7c.2179G= (p.Val727=)
n.2859G=
c.1765G= (p.Val589=)
c.1723G= (p.Val575=)
c.-90G= (n.-90G=)
n.2397G=
19g.1047564G>TCA402953418ABCA7c.2179G>T (p.Val727Phe)
n.2859G>T
c.1765G>T (p.Val589Phe)
c.1723G>T (p.Val575Phe)
c.-90G>T (n.-90G>T)
n.2397G>T
 gnomAD v4
19g.1047565T>ACA402953422ABCA7c.2180T>A (p.Val727Asp)
n.2860T>A
c.1766T>A (p.Val589Asp)
c.1724T>A (p.Val575Asp)
c.-89T>A (n.-89T>A)
n.2398T>A
19g.1047565T>CCA402953427ABCA7c.2180T>C (p.Val727Ala)
n.2860T>C
c.1766T>C (p.Val589Ala)
c.1724T>C (p.Val575Ala)
c.-89T>C (n.-89T>C)
n.2398T>C
 dbSNP gnomAD v2 gnomAD v4
19g.1047565T>GCA402953430ABCA7c.2180T>G (p.Val727Gly)
n.2860T>G
c.1766T>G (p.Val589Gly)
c.1724T>G (p.Val575Gly)
c.-89T>G (n.-89T>G)
n.2398T>G
19g.1047565T=CA2317483043ABCA7c.2180T= (p.Val727=)
n.2860T=
c.1766T= (p.Val589=)
c.1724T= (p.Val575=)
c.-89T= (n.-89T=)
n.2398T=
19g.1047566C>ACA504887835ABCA7c.2181C>A (p.Val727=)
n.2861C>A
c.1767C>A (p.Val589=)
c.-111C>A (n.-111C>A)
c.1725C>A (p.Val575=)
c.-88C>A (n.-88C>A)
n.2399C>A
19g.1047566C=CA2317483044ABCA7c.2181C= (p.Val727=)
n.2861C=
c.1767C= (p.Val589=)
c.-111C= (n.-111C=)
c.1725C= (p.Val575=)
c.-88C= (n.-88C=)
n.2399C=
19g.1047566C>GCA504887837ABCA7c.2181C>G (p.Val727=)
n.2861C>G
c.1767C>G (p.Val589=)
c.-111C>G (n.-111C>G)
c.1725C>G (p.Val575=)
c.-88C>G (n.-88C>G)
n.2399C>G
19g.1047566C>TCA504887836ABCA7c.2181C>T (p.Val727=)
n.2861C>T
c.1767C>T (p.Val589=)
c.-111C>T (n.-111C>T)
c.1725C>T (p.Val575=)
c.-88C>T (n.-88C>T)
n.2399C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047567T>ACA402953440ABCA7c.2182T>A (p.Phe728Ile)
n.2862T>A
c.1768T>A (p.Phe590Ile)
c.-110T>A (n.-110T>A)
c.1726T>A (p.Phe576Ile)
c.-87T>A (n.-87T>A)
n.2400T>A
19g.1047567T>CCA402953437ABCA7c.2182T>C (p.Phe728Leu)
n.2862T>C
c.1768T>C (p.Phe590Leu)
c.-110T>C (n.-110T>C)
c.1726T>C (p.Phe576Leu)
c.-87T>C (n.-87T>C)
n.2400T>C
 gnomAD v4
19g.1047567T>GCA402953435ABCA7c.2182T>G (p.Phe728Val)
n.2862T>G
c.1768T>G (p.Phe590Val)
c.-110T>G (n.-110T>G)
c.1726T>G (p.Phe576Val)
c.-87T>G (n.-87T>G)
n.2400T>G
 gnomAD v4
19g.1047568T>ACA402953452ABCA7c.2183T>A (p.Phe728Tyr)
n.2863T>A
c.1769T>A (p.Phe590Tyr)
c.-109T>A (n.-109T>A)
c.1727T>A (p.Phe576Tyr)
c.-86T>A (n.-86T>A)
n.2401T>A
19g.1047568T>CCA402953455ABCA7c.2183T>C (p.Phe728Ser)
n.2863T>C
c.1769T>C (p.Phe590Ser)
c.-109T>C (n.-109T>C)
c.1727T>C (p.Phe576Ser)
c.-86T>C (n.-86T>C)
n.2401T>C
19g.1047568T>GCA402953459ABCA7c.2183T>G (p.Phe728Cys)
n.2863T>G
c.1769T>G (p.Phe590Cys)
c.-109T>G (n.-109T>G)
c.1727T>G (p.Phe576Cys)
c.-86T>G (n.-86T>G)
n.2401T>G
 dbSNP gnomAD v3 gnomAD v4
19g.1047568T=CA2317483045ABCA7c.2183T= (p.Phe728=)
n.2863T=
c.1769T= (p.Phe590=)
c.-109T= (n.-109T=)
c.1727T= (p.Phe576=)
c.-86T= (n.-86T=)
n.2401T=
19g.1047569C>ACA402953465ABCA7c.2184C>A (p.Phe728Leu)
n.2864C>A
c.1770C>A (p.Phe590Leu)
c.-108C>A (n.-108C>A)
c.1728C>A (p.Phe576Leu)
c.-85C>A (n.-85C>A)
n.2402C>A
 dbSNP
19g.1047569C=CA2317483046ABCA7c.2184C= (p.Phe728=)
n.2864C=
c.1770C= (p.Phe590=)
c.-108C= (n.-108C=)
c.1728C= (p.Phe576=)
c.-85C= (n.-85C=)
n.2402C=
19g.1047569C>GCA402953468ABCA7c.2184C>G (p.Phe728Leu)
n.2864C>G
c.1770C>G (p.Phe590Leu)
c.-108C>G (n.-108C>G)
c.1728C>G (p.Phe576Leu)
c.-85C>G (n.-85C>G)
n.2402C>G
19g.1047569C>TCA504887841ABCA7c.2184C>T (p.Phe728=)
n.2864C>T
c.1770C>T (p.Phe590=)
c.-108C>T (n.-108C>T)
c.1728C>T (p.Phe576=)
c.-85C>T (n.-85C>T)
n.2402C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047570A>CCA402953473ABCA7c.2185A>C (p.Ser729Arg)
n.2865A>C
c.1771A>C (p.Ser591Arg)
c.-107A>C (n.-107A>C)
c.1729A>C (p.Ser577Arg)
c.-84A>C (n.-84A>C)
n.2403A>C
 gnomAD v4
19g.1047570A>GCA402953477ABCA7c.2185A>G (p.Ser729Gly)
n.2865A>G
c.1771A>G (p.Ser591Gly)
c.-107A>G (n.-107A>G)
c.1729A>G (p.Ser577Gly)
c.-84A>G (n.-84A>G)
n.2403A>G
 gnomAD v4
19g.1047570A>TCA402953480ABCA7c.2185A>T (p.Ser729Cys)
n.2865A>T
c.1771A>T (p.Ser591Cys)
c.-107A>T (n.-107A>T)
c.1729A>T (p.Ser577Cys)
c.-84A>T (n.-84A>T)
n.2403A>T
19g.1047571G>ACA402953484ABCA7c.2186G>A (p.Ser729Asn)
n.2866G>A
c.1772G>A (p.Ser591Asn)
c.-106G>A (n.-106G>A)
c.1730G>A (p.Ser577Asn)
c.-83G>A (n.-83G>A)
n.2404G>A
19g.1047571G>CCA402953491ABCA7c.2186G>C (p.Ser729Thr)
n.2866G>C
c.1772G>C (p.Ser591Thr)
c.-106G>C (n.-106G>C)
c.1730G>C (p.Ser577Thr)
c.-83G>C (n.-83G>C)
n.2404G>C
19g.1047571G=CA2317483047ABCA7c.2186G= (p.Ser729=)
n.2866G=
c.1772G= (p.Ser591=)
c.-106G= (n.-106G=)
c.1730G= (p.Ser577=)
c.-83G= (n.-83G=)
n.2404G=
19g.1047571G>TCA402953500ABCA7c.2186G>T (p.Ser729Ile)
n.2866G>T
c.1772G>T (p.Ser591Ile)
c.-106G>T (n.-106G>T)
c.1730G>T (p.Ser577Ile)
c.-83G>T (n.-83G>T)
n.2404G>T
 dbSNP gnomAD v4
19g.1047572C>ACA402953510ABCA7c.2187C>A (p.Ser729Arg)
n.2867C>A
c.1773C>A (p.Ser591Arg)
c.-105C>A (n.-105C>A)
c.1731C>A (p.Ser577Arg)
c.-82C>A (n.-82C>A)
n.2405C>A
19g.1047572C>GCA402953521ABCA7c.2187C>G (p.Ser729Arg)
n.2867C>G
c.1773C>G (p.Ser591Arg)
c.-105C>G (n.-105C>G)
c.1731C>G (p.Ser577Arg)
c.-82C>G (n.-82C>G)
n.2405C>G
19g.1047572C>TCA504887842ABCA7c.2187C>T (p.Ser729=)
n.2867C>T
c.1773C>T (p.Ser591=)
c.-105C>T (n.-105C>T)
c.1731C>T (p.Ser577=)
c.-82C>T (n.-82C>T)
n.2405C>T
 gnomAD v4
19g.1047573C>ACA402953525ABCA7c.2188C>A (p.Leu730Met)
n.2868C>A
c.1774C>A (p.Leu592Met)
c.-104C>A (n.-104C>A)
c.1732C>A (p.Leu578Met)
c.-81C>A (n.-81C>A)
n.2406C>A
 gnomAD v4
19g.1047573C>GCA402953528ABCA7c.2188C>G (p.Leu730Val)
n.2868C>G
c.1774C>G (p.Leu592Val)
c.-104C>G (n.-104C>G)
c.1732C>G (p.Leu578Val)
c.-81C>G (n.-81C>G)
n.2406C>G
19g.1047573C>TCA504887844ABCA7c.2188C>T (p.Leu730=)
n.2868C>T
c.1774C>T (p.Leu592=)
c.-104C>T (n.-104C>T)
c.1732C>T (p.Leu578=)
c.-81C>T (n.-81C>T)
n.2406C>T
19g.1047574T>ACA402953529ABCA7c.2189T>A (p.Leu730Gln)
n.2869T>A
c.1775T>A (p.Leu592Gln)
c.-103T>A (n.-103T>A)
c.1733T>A (p.Leu578Gln)
c.-80T>A (n.-80T>A)
n.2407T>A
19g.1047574T>CCA402953531ABCA7c.2189T>C (p.Leu730Pro)
n.2869T>C
c.1775T>C (p.Leu592Pro)
c.-103T>C (n.-103T>C)
c.1733T>C (p.Leu578Pro)
c.-80T>C (n.-80T>C)
n.2407T>C
 gnomAD v4
19g.1047574T>GCA402953530ABCA7c.2189T>G (p.Leu730Arg)
n.2869T>G
c.1775T>G (p.Leu592Arg)
c.-103T>G (n.-103T>G)
c.1733T>G (p.Leu578Arg)
c.-80T>G (n.-80T>G)
n.2407T>G
19g.1047575G>ACA504887845ABCA7c.2190G>A (p.Leu730=)
n.2870G>A
c.1776G>A (p.Leu592=)
c.-102G>A (n.-102G>A)
c.1734G>A (p.Leu578=)
c.-79G>A (n.-79G>A)
n.2408G>A
19g.1047575G>CCA504887846ABCA7c.2190G>C (p.Leu730=)
n.2870G>C
c.1776G>C (p.Leu592=)
c.-102G>C (n.-102G>C)
c.1734G>C (p.Leu578=)
c.-79G>C (n.-79G>C)
n.2408G>C
 dbSNP gnomAD v4
19g.1047575G>TCA504887847ABCA7c.2190G>T (p.Leu730=)
n.2870G>T
c.1776G>T (p.Leu592=)
c.-102G>T (n.-102G>T)
c.1734G>T (p.Leu578=)
c.-79G>T (n.-79G>T)
n.2408G>T
 gnomAD v4
19g.1047576G>ACA303996080ABCA7c.2191G>A (p.Ala731Thr)
n.2871G>A
c.1777G>A (p.Ala593Thr)
c.-101G>A (n.-101G>A)
c.1735G>A (p.Ala579Thr)
c.-78G>A (n.-78G>A)
n.2409G>A
 dbSNP gnomAD v4
19g.1047576G>CCA402953538ABCA7c.2191G>C (p.Ala731Pro)
n.2871G>C
c.1777G>C (p.Ala593Pro)
c.-101G>C (n.-101G>C)
c.1735G>C (p.Ala579Pro)
c.-78G>C (n.-78G>C)
n.2409G>C
19g.1047576G=CA2317483048ABCA7c.2191G= (p.Ala731=)
n.2871G=
c.1777G= (p.Ala593=)
c.-101G= (n.-101G=)
c.1735G= (p.Ala579=)
c.-78G= (n.-78G=)
n.2409G=
19g.1047576G>TCA402953542ABCA7c.2191G>T (p.Ala731Ser)
n.2871G>T
c.1777G>T (p.Ala593Ser)
c.-101G>T (n.-101G>T)
c.1735G>T (p.Ala579Ser)
c.-78G>T (n.-78G>T)
n.2409G>T
 gnomAD v4
19g.1047577C>ACA402953546ABCA7c.2192C>A (p.Ala731Asp)
n.2872C>A
c.1778C>A (p.Ala593Asp)
c.-100C>A (n.-100C>A)
c.1736C>A (p.Ala579Asp)
c.-77C>A (n.-77C>A)
n.2410C>A
 gnomAD v4
19g.1047577C=CA2317483049ABCA7c.2192C= (p.Ala731=)
n.2872C=
c.1778C= (p.Ala593=)
c.-100C= (n.-100C=)
c.1736C= (p.Ala579=)
c.-77C= (n.-77C=)
n.2410C=
19g.1047577C>GCA402953547ABCA7c.2192C>G (p.Ala731Gly)
n.2872C>G
c.1778C>G (p.Ala593Gly)
c.-100C>G (n.-100C>G)
c.1736C>G (p.Ala579Gly)
c.-77C>G (n.-77C>G)
n.2410C>G
19g.1047577C>TCA9033327ABCA7c.2192C>T (p.Ala731Val)
n.2872C>T
c.1778C>T (p.Ala593Val)
c.-100C>T (n.-100C>T)
c.1736C>T (p.Ala579Val)
c.-77C>T (n.-77C>T)
n.2410C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047579delCA2588185627ABCA7c.2194del (p.Gln732ArgfsTer?)
n.2874del
c.1780del (p.Gln594ArgfsTer?)
c.-98del (n.-98del)
c.1738del (p.Gln580ArgfsTer?)
c.-75del (n.-75del)
n.2412del
 gnomAD v4
19g.1047578_1047579delCA2588185628ABCA7c.2193_2194del (p.Gln732GlyfsTer?)
n.2873_2874del
c.1779_1780del (p.Gln594GlyfsTer?)
c.-99_-98del (n.-99_-98del)
c.1737_1738del (p.Gln580GlyfsTer?)
c.-76_-75del (n.-76_-75del)
n.2411_2412del
 gnomAD v4
19g.1047578C>ACA504887852ABCA7c.2193C>A (p.Ala731=)
n.2873C>A
c.1779C>A (p.Ala593=)
c.-99C>A (n.-99C>A)
c.1737C>A (p.Ala579=)
c.-76C>A (n.-76C>A)
n.2411C>A
 gnomAD v4
19g.1047578C=CA2317483050ABCA7c.2193C= (p.Ala731=)
n.2873C=
c.1779C= (p.Ala593=)
c.-99C= (n.-99C=)
c.1737C= (p.Ala579=)
c.-76C= (n.-76C=)
n.2411C=
19g.1047578C>GCA504887853ABCA7c.2193C>G (p.Ala731=)
n.2873C>G
c.1779C>G (p.Ala593=)
c.-99C>G (n.-99C>G)
c.1737C>G (p.Ala579=)
c.-76C>G (n.-76C>G)
n.2411C>G
19g.1047578C>TCA504887854ABCA7c.2193C>T (p.Ala731=)
n.2873C>T
c.1779C>T (p.Ala593=)
c.-99C>T (n.-99C>T)
c.1737C>T (p.Ala579=)
c.-76C>T (n.-76C>T)
n.2411C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047579C>ACA402953550ABCA7c.2194C>A (p.Gln732Lys)
n.2874C>A
c.1780C>A (p.Gln594Lys)
c.-98C>A (n.-98C>A)
c.1738C>A (p.Gln580Lys)
c.-75C>A (n.-75C>A)
n.2412C>A
19g.1047579C=CA2317483051ABCA7c.2194C= (p.Gln732=)
n.2874C=
c.1780C= (p.Gln594=)
c.-98C= (n.-98C=)
c.1738C= (p.Gln580=)
c.-75C= (n.-75C=)
n.2412C=
19g.1047579C>GCA402953553ABCA7c.2194C>G (p.Gln732Glu)
n.2874C>G
c.1780C>G (p.Gln594Glu)
c.-98C>G (n.-98C>G)
c.1738C>G (p.Gln580Glu)
c.-75C>G (n.-75C>G)
n.2412C>G
19g.1047579C>TCA303996087ABCA7c.2194C>T (p.Gln732Ter)
n.2874C>T
c.1780C>T (p.Gln594Ter)
c.-98C>T (n.-98C>T)
c.1738C>T (p.Gln580Ter)
c.-75C>T (n.-75C>T)
n.2412C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047580A=CA2317483052ABCA7c.2195A= (p.Gln732=)
n.2875A=
c.1781A= (p.Gln594=)
c.-97A= (n.-97A=)
c.1739A= (p.Gln580=)
c.-74A= (n.-74A=)
n.2413A=
19g.1047580A>CCA402953562ABCA7c.2195A>C (p.Gln732Pro)
n.2875A>C
c.1781A>C (p.Gln594Pro)
c.-97A>C (n.-97A>C)
c.1739A>C (p.Gln580Pro)
c.-74A>C (n.-74A>C)
n.2413A>C
19g.1047580A>GCA402953565ABCA7c.2195A>G (p.Gln732Arg)
n.2875A>G
c.1781A>G (p.Gln594Arg)
c.-97A>G (n.-97A>G)
c.1739A>G (p.Gln580Arg)
c.-74A>G (n.-74A>G)
n.2413A>G
 dbSNP gnomAD v3 gnomAD v4
19g.1047580A>TCA402953569ABCA7c.2195A>T (p.Gln732Leu)
n.2875A>T
c.1781A>T (p.Gln594Leu)
c.-97A>T (n.-97A>T)
c.1739A>T (p.Gln580Leu)
c.-74A>T (n.-74A>T)
n.2413A>T
19g.1047581G>ACA9033328ABCA7c.2196G>A (p.Gln732=)
n.2876G>A
c.1782G>A (p.Gln594=)
c.-96G>A (n.-96G>A)
c.1740G>A (p.Gln580=)
c.-73G>A (n.-73G>A)
n.2414G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047581G>CCA402953572ABCA7c.2196G>C (p.Gln732His)
n.2876G>C
c.1782G>C (p.Gln594His)
c.-96G>C (n.-96G>C)
c.1740G>C (p.Gln580His)
c.-73G>C (n.-73G>C)
n.2414G>C
19g.1047581G=CA2317483053ABCA7c.2196G= (p.Gln732=)
n.2876G=
c.1782G= (p.Gln594=)
c.-96G= (n.-96G=)
c.1740G= (p.Gln580=)
c.-73G= (n.-73G=)
n.2414G=
19g.1047581G>TCA402953580ABCA7c.2196G>T (p.Gln732His)
n.2876G>T
c.1782G>T (p.Gln594His)
c.-96G>T (n.-96G>T)
c.1740G>T (p.Gln580His)
c.-73G>T (n.-73G>T)
n.2414G>T
 gnomAD v4
19g.1047582G>ACA402953585ABCA7c.2197G>A (p.Val733Ile)
n.2877G>A
c.1783G>A (p.Val595Ile)
c.-95G>A (n.-95G>A)
c.1741G>A (p.Val581Ile)
c.-72G>A (n.-72G>A)
n.2415G>A
 gnomAD v4
19g.1047582G>CCA402953586ABCA7c.2197G>C (p.Val733Leu)
n.2877G>C
c.1783G>C (p.Val595Leu)
c.-95G>C (n.-95G>C)
c.1741G>C (p.Val581Leu)
c.-72G>C (n.-72G>C)
n.2415G>C
19g.1047582G>TCA402953589ABCA7c.2197G>T (p.Val733Phe)
n.2877G>T
c.1783G>T (p.Val595Phe)
c.-95G>T (n.-95G>T)
c.1741G>T (p.Val581Phe)
c.-72G>T (n.-72G>T)
n.2415G>T
 gnomAD v4
19g.1047583T>ACA402953594ABCA7c.2198T>A (p.Val733Asp)
n.2878T>A
c.1784T>A (p.Val595Asp)
c.-94T>A (n.-94T>A)
c.1742T>A (p.Val581Asp)
c.-71T>A (n.-71T>A)
n.2416T>A
 gnomAD v4
19g.1047583T>CCA303996114ABCA7c.2198T>C (p.Val733Ala)
n.2878T>C
c.1784T>C (p.Val595Ala)
c.-94T>C (n.-94T>C)
c.1742T>C (p.Val581Ala)
c.-71T>C (n.-71T>C)
n.2416T>C
 dbSNP gnomAD v3 gnomAD v4
19g.1047583T>GCA402953596ABCA7c.2198T>G (p.Val733Gly)
n.2878T>G
c.1784T>G (p.Val595Gly)
c.-94T>G (n.-94T>G)
c.1742T>G (p.Val581Gly)
c.-71T>G (n.-71T>G)
n.2416T>G
19g.1047583T=CA2317483054ABCA7c.2198T= (p.Val733=)
n.2878T=
c.1784T= (p.Val595=)
c.-94T= (n.-94T=)
c.1742T= (p.Val581=)
c.-71T= (n.-71T=)
n.2416T=
19g.1047586_1047587dupCA2588185629ABCA7c.2201_2202dup (p.Gly735LeufsTer?)
n.2881_2882dup
c.1787_1788dup (p.Gly597LeufsTer?)
c.-91_-90dup (n.-91_-90dup)
c.1745_1746dup (p.Gly583LeufsTer?)
c.-68_-67dup (n.-68_-67dup)
n.2419_2420dup
 gnomAD v4
19g.1047584C>ACA504887858ABCA7c.2199C>A (p.Val733=)
n.2879C>A
c.1785C>A (p.Val595=)
c.-93C>A (n.-93C>A)
c.1743C>A (p.Val581=)
c.-70C>A (n.-70C>A)
n.2417C>A
 gnomAD v4
19g.1047584C=CA2317483055ABCA7c.2199C= (p.Val733=)
n.2879C=
c.1785C= (p.Val595=)
c.-93C= (n.-93C=)
c.1743C= (p.Val581=)
c.-70C= (n.-70C=)
n.2417C=
19g.1047584C>GCA504887859ABCA7c.2199C>G (p.Val733=)
n.2879C>G
c.1785C>G (p.Val595=)
c.-93C>G (n.-93C>G)
c.1743C>G (p.Val581=)
c.-70C>G (n.-70C>G)
n.2417C>G
 dbSNP gnomAD v4
19g.1047584C>TCA504887860ABCA7c.2199C>T (p.Val733=)
n.2879C>T
c.1785C>T (p.Val595=)
c.-93C>T (n.-93C>T)
c.1743C>T (p.Val581=)
c.-70C>T (n.-70C>T)
n.2417C>T
 dbSNP gnomAD v4
19g.1047585T>ACA402953601ABCA7c.2200T>A (p.Ser734Thr)
n.2880T>A
c.1786T>A (p.Ser596Thr)
c.-92T>A (n.-92T>A)
c.1744T>A (p.Ser582Thr)
c.-69T>A (n.-69T>A)
n.2418T>A
19g.1047585T>CCA402953604ABCA7c.2200T>C (p.Ser734Pro)
n.2880T>C
c.1786T>C (p.Ser596Pro)
c.-92T>C (n.-92T>C)
c.1744T>C (p.Ser582Pro)
c.-69T>C (n.-69T>C)
n.2418T>C
19g.1047585T>GCA402953612ABCA7c.2200T>G (p.Ser734Ala)
n.2880T>G
c.1786T>G (p.Ser596Ala)
c.-92T>G (n.-92T>G)
c.1744T>G (p.Ser582Ala)
c.-69T>G (n.-69T>G)
n.2418T>G
19g.1047586C>ACA402953615ABCA7c.2201C>A (p.Ser734Tyr)
n.2881C>A
c.1787C>A (p.Ser596Tyr)
c.-91C>A (n.-91C>A)
c.1745C>A (p.Ser582Tyr)
c.-68C>A (n.-68C>A)
n.2419C>A
 gnomAD v4
19g.1047586C>GCA402953616ABCA7c.2201C>G (p.Ser734Cys)
n.2881C>G
c.1787C>G (p.Ser596Cys)
c.-91C>G (n.-91C>G)
c.1745C>G (p.Ser582Cys)
c.-68C>G (n.-68C>G)
n.2419C>G
19g.1047586C>TCA402953619ABCA7c.2201C>T (p.Ser734Phe)
n.2881C>T
c.1787C>T (p.Ser596Phe)
c.-91C>T (n.-91C>T)
c.1745C>T (p.Ser582Phe)
c.-68C>T (n.-68C>T)
n.2419C>T
19g.1047587T>ACA504887863ABCA7c.2202T>A (p.Ser734=)
n.2882T>A
c.1788T>A (p.Ser596=)
c.-90T>A (n.-90T>A)
c.1746T>A (p.Ser582=)
c.-67T>A (n.-67T>A)
n.2420T>A
19g.1047587T>CCA9033329ABCA7c.2202T>C (p.Ser734=)
n.2882T>C
c.1788T>C (p.Ser596=)
c.-90T>C (n.-90T>C)
c.1746T>C (p.Ser582=)
c.-67T>C (n.-67T>C)
n.2420T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047587T>GCA504887862ABCA7c.2202T>G (p.Ser734=)
n.2882T>G
c.1788T>G (p.Ser596=)
c.-90T>G (n.-90T>G)
c.1746T>G (p.Ser582=)
c.-67T>G (n.-67T>G)
n.2420T>G
19g.1047587T=CA2317483056ABCA7c.2202T= (p.Ser734=)
n.2882T=
c.1788T= (p.Ser596=)
c.-90T= (n.-90T=)
c.1746T= (p.Ser582=)
c.-67T= (n.-67T=)
n.2420T=
19g.1047588G>ACA402953632ABCA7c.2203G>A (p.Gly735Ser)
n.2883G>A
c.1789G>A (p.Gly597Ser)
c.-89G>A (n.-89G>A)
c.1747G>A (p.Gly583Ser)
c.-66G>A (n.-66G>A)
n.2421G>A
19g.1047588G>CCA9033330ABCA7c.2203G>C (p.Gly735Arg)
n.2883G>C
c.1789G>C (p.Gly597Arg)
c.-89G>C (n.-89G>C)
c.1747G>C (p.Gly583Arg)
c.-66G>C (n.-66G>C)
n.2421G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047588G=CA2317483057ABCA7c.2203G= (p.Gly735=)
n.2883G=
c.1789G= (p.Gly597=)
c.-89G= (n.-89G=)
c.1747G= (p.Gly583=)
c.-66G= (n.-66G=)
n.2421G=
19g.1047588G>TCA402953629ABCA7c.2203G>T (p.Gly735Cys)
n.2883G>T
c.1789G>T (p.Gly597Cys)
c.-89G>T (n.-89G>T)
c.1747G>T (p.Gly583Cys)
c.-66G>T (n.-66G>T)
n.2421G>T
 gnomAD v4
19g.1047589G>ACA402953636ABCA7c.2204G>A (p.Gly735Asp)
n.2884G>A
c.1790G>A (p.Gly597Asp)
c.-88G>A (n.-88G>A)
c.1748G>A (p.Gly583Asp)
c.-65G>A (n.-65G>A)
n.2422G>A
 dbSNP gnomAD v3 gnomAD v4
19g.1047589G>CCA402953640ABCA7c.2204G>C (p.Gly735Ala)
n.2884G>C
c.1790G>C (p.Gly597Ala)
c.-88G>C (n.-88G>C)
c.1748G>C (p.Gly583Ala)
c.-65G>C (n.-65G>C)
n.2422G>C
19g.1047589G=CA2317483058ABCA7c.2204G= (p.Gly735=)
n.2884G=
c.1790G= (p.Gly597=)
c.-88G= (n.-88G=)
c.1748G= (p.Gly583=)
c.-65G= (n.-65G=)
n.2422G=
19g.1047589G>TCA402953642ABCA7c.2204G>T (p.Gly735Val)
n.2884G>T
c.1790G>T (p.Gly597Val)
c.-88G>T (n.-88G>T)
c.1748G>T (p.Gly583Val)
c.-65G>T (n.-65G>T)
n.2422G>T
 gnomAD v4
19g.1047590C>ACA504887868ABCA7c.2205C>A (p.Gly735=)
n.2885C>A
c.1791C>A (p.Gly597=)
c.-87C>A (n.-87C>A)
c.1749C>A (p.Gly583=)
c.-64C>A (n.-64C>A)
n.2423C>A
 gnomAD v4
19g.1047590C=CA2317483059ABCA7c.2205C= (p.Gly735=)
n.2885C=
c.1791C= (p.Gly597=)
c.-87C= (n.-87C=)
c.1749C= (p.Gly583=)
c.-64C= (n.-64C=)
n.2423C=
19g.1047590C>GCA303996139ABCA7c.2205C>G (p.Gly735=)
n.2885C>G
c.1791C>G (p.Gly597=)
c.-87C>G (n.-87C>G)
c.1749C>G (p.Gly583=)
c.-64C>G (n.-64C>G)
n.2423C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047590C>TCA504887867ABCA7c.2205C>T (p.Gly735=)
n.2885C>T
c.1791C>T (p.Gly597=)
c.-87C>T (n.-87C>T)
c.1749C>T (p.Gly583=)
c.-64C>T (n.-64C>T)
n.2423C>T
 gnomAD v4
19g.1047590_1047593delinsCCTTCA2317483060ABCA7c.2205_2208delinsCCTT (p.Gly735=)
n.2885_2888delinsCCTT
c.1791_1794delinsCCTT (p.Gly597=)
c.-87_-84delinsCCTT (n.-87_-84delinsCCTT)
c.1749_1752delinsCCTT (p.Gly583=)
c.-64_-61delinsCCTT (n.-64_-61delinsCCTT)
n.2423_2426delinsCCTT
19g.1047591C>ACA402953648ABCA7c.2206C>A (p.Leu736Ile)
n.2886C>A
c.1792C>A (p.Leu598Ile)
c.-86C>A (n.-86C>A)
c.1750C>A (p.Leu584Ile)
c.-63C>A (n.-63C>A)
n.2424C>A
19g.1047591C>GCA402953652ABCA7c.2206C>G (p.Leu736Val)
n.2886C>G
c.1792C>G (p.Leu598Val)
c.-86C>G (n.-86C>G)
c.1750C>G (p.Leu584Val)
c.-63C>G (n.-63C>G)
n.2424C>G
19g.1047591C>TCA402953656ABCA7c.2206C>T (p.Leu736Phe)
n.2886C>T
c.1792C>T (p.Leu598Phe)
c.-86C>T (n.-86C>T)
c.1750C>T (p.Leu584Phe)
c.-63C>T (n.-63C>T)
n.2424C>T
 gnomAD v4
19g.1047593_1047595delCA783177833ABCA7c.2208_2210del (p.Leu737del)
n.2888_2890del
c.1794_1796del (p.Leu599del)
c.-84_-82del (n.-84_-82del)
c.1752_1754del (p.Leu585del)
c.-61_-59del (n.-61_-59del)
n.2426_2428del
 dbSNP gnomAD v3 gnomAD v4
19g.1047592T>ACA402953662ABCA7c.2207T>A (p.Leu736His)
n.2887T>A
c.1793T>A (p.Leu598His)
c.-85T>A (n.-85T>A)
c.1751T>A (p.Leu584His)
c.-62T>A (n.-62T>A)
n.2425T>A
19g.1047592T>CCA402953669ABCA7c.2207T>C (p.Leu736Pro)
n.2887T>C
c.1793T>C (p.Leu598Pro)
c.-85T>C (n.-85T>C)
c.1751T>C (p.Leu584Pro)
c.-62T>C (n.-62T>C)
n.2425T>C
 COSMIC
19g.1047592T>GCA402953670ABCA7c.2207T>G (p.Leu736Arg)
n.2887T>G
c.1793T>G (p.Leu598Arg)
c.-85T>G (n.-85T>G)
c.1751T>G (p.Leu584Arg)
c.-62T>G (n.-62T>G)
n.2425T>G

Number of alleles fetched