Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54625735A>CCA370992196RP1c.1853A>C (p.Asn618Thr)
c.787+3447A>C (n.787+3447A>C)
c.1874A>C (p.Asn625Thr)
8g.54625735A>GCA370992197RP1c.1853A>G (p.Asn618Ser)
c.787+3447A>G (n.787+3447A>G)
c.1874A>G (p.Asn625Ser)
8g.54625735A>TCA370992198RP1c.1853A>T (p.Asn618Ile)
c.787+3447A>T (n.787+3447A>T)
c.1874A>T (p.Asn625Ile)
8g.54625736T>ACA370992200RP1c.1854T>A (p.Asn618Lys)
c.787+3448T>A (n.787+3448T>A)
c.1875T>A (p.Asn625Lys)
8g.54625736T>CCA461098445RP1c.1854T>C (p.Asn618=)
c.787+3448T>C (n.787+3448T>C)
c.1875T>C (p.Asn625=)
8g.54625736T>GCA370992199RP1c.1854T>G (p.Asn618Lys)
c.787+3448T>G (n.787+3448T>G)
c.1875T>G (p.Asn625Lys)
8g.54625737A>CCA370992201RP1c.1855A>C (p.Asn619His)
c.787+3449A>C (n.787+3449A>C)
c.1876A>C (p.Asn626His)
8g.54625737A>GCA370992202RP1c.1855A>G (p.Asn619Asp)
c.787+3449A>G (n.787+3449A>G)
c.1876A>G (p.Asn626Asp)
8g.54625737A>TCA370992203RP1c.1855A>T (p.Asn619Tyr)
c.787+3449A>T (n.787+3449A>T)
c.1876A>T (p.Asn626Tyr)
8g.54625738A>CCA370992204RP1c.1856A>C (p.Asn619Thr)
c.787+3450A>C (n.787+3450A>C)
c.1877A>C (p.Asn626Thr)
8g.54625738A>GCA370992205RP1c.1856A>G (p.Asn619Ser)
c.787+3450A>G (n.787+3450A>G)
c.1877A>G (p.Asn626Ser)
8g.54625738A>TCA370992206RP1c.1856A>T (p.Asn619Ile)
c.787+3450A>T (n.787+3450A>T)
c.1877A>T (p.Asn626Ile)
8g.54625739C>ACA370992208RP1c.1857C>A (p.Asn619Lys)
c.787+3451C>A (n.787+3451C>A)
c.1878C>A (p.Asn626Lys)
8g.54625739C>GCA370992207RP1c.1857C>G (p.Asn619Lys)
c.787+3451C>G (n.787+3451C>G)
c.1878C>G (p.Asn626Lys)
8g.54625739C>TCA461098452RP1c.1857C>T (p.Asn619=)
c.787+3451C>T (n.787+3451C>T)
c.1878C>T (p.Asn626=)
8g.54625740T>ACA370992209RP1c.1858T>A (p.Ser620Thr)
c.787+3452T>A (n.787+3452T>A)
c.1879T>A (p.Ser627Thr)
8g.54625740T>CCA370992210RP1c.1858T>C (p.Ser620Pro)
c.787+3452T>C (n.787+3452T>C)
c.1879T>C (p.Ser627Pro)
8g.54625740T>GCA370992211RP1c.1858T>G (p.Ser620Ala)
c.787+3452T>G (n.787+3452T>G)
c.1879T>G (p.Ser627Ala)
8g.54625741C>ACA370992212RP1c.1859C>A (p.Ser620Tyr)
c.787+3453C>A (n.787+3453C>A)
c.1880C>A (p.Ser627Tyr)
8g.54625741C>GCA370992213RP1c.1859C>G (p.Ser620Cys)
c.787+3453C>G (n.787+3453C>G)
c.1880C>G (p.Ser627Cys)
8g.54625741C>TCA370992214RP1c.1859C>T (p.Ser620Phe)
c.787+3453C>T (n.787+3453C>T)
c.1880C>T (p.Ser627Phe)
8g.54625742T>ACA461098463RP1c.1860T>A (p.Ser620=)
c.787+3454T>A (n.787+3454T>A)
c.1881T>A (p.Ser627=)
 gnomAD v4
8g.54625742T>CCA461098465RP1c.1860T>C (p.Ser620=)
c.787+3454T>C (n.787+3454T>C)
c.1881T>C (p.Ser627=)
8g.54625742T>GCA461098466RP1c.1860T>G (p.Ser620=)
c.787+3454T>G (n.787+3454T>G)
c.1881T>G (p.Ser627=)
8g.54625743G>ACA370992215RP1c.1861G>A (p.Gly621Arg)
c.787+3455G>A (n.787+3455G>A)
c.1882G>A (p.Gly628Arg)
 COSMIC
8g.54625743G>CCA370992217RP1c.1861G>C (p.Gly621Arg)
c.787+3455G>C (n.787+3455G>C)
c.1882G>C (p.Gly628Arg)
8g.54625743G>TCA370992216RP1c.1861G>T (p.Gly621Ter)
c.787+3455G>T (n.787+3455G>T)
c.1882G>T (p.Gly628Ter)
8g.54625744G>ACA370992218RP1c.1862G>A (p.Gly621Glu)
c.787+3456G>A (n.787+3456G>A)
c.1883G>A (p.Gly628Glu)
8g.54625744G>CCA370992219RP1c.1862G>C (p.Gly621Ala)
c.787+3456G>C (n.787+3456G>C)
c.1883G>C (p.Gly628Ala)
8g.54625744G>TCA370992220RP1c.1862G>T (p.Gly621Val)
c.787+3456G>T (n.787+3456G>T)
c.1883G>T (p.Gly628Val)
8g.54625744_54625745insTCCA2780386999RP1c.1862_1863insTC (p.Thr622GlnfsTer25)
c.787+3456_787+3457insTC (n.787+3456_787+3457insTC)
c.1883_1884insTC (p.Thr629GlnfsTer25)
8g.54625745A>CCA461098473RP1c.1863A>C (p.Gly621=)
c.787+3457A>C (n.787+3457A>C)
c.1884A>C (p.Gly628=)
8g.54625745A>GCA461098470RP1c.1863A>G (p.Gly621=)
c.787+3457A>G (n.787+3457A>G)
c.1884A>G (p.Gly628=)
 gnomAD v4
8g.54625745A>TCA461098471RP1c.1863A>T (p.Gly621=)
c.787+3457A>T (n.787+3457A>T)
c.1884A>T (p.Gly628=)
8g.54625746A>CCA370992221RP1c.1864A>C (p.Thr622Pro)
c.787+3458A>C (n.787+3458A>C)
c.1885A>C (p.Thr629Pro)
8g.54625746A>GCA370992222RP1c.1864A>G (p.Thr622Ala)
c.787+3458A>G (n.787+3458A>G)
c.1885A>G (p.Thr629Ala)
8g.54625746A>TCA370992223RP1c.1864A>T (p.Thr622Ser)
c.787+3458A>T (n.787+3458A>T)
c.1885A>T (p.Thr629Ser)
8g.54625747C>ACA370992224RP1c.1865C>A (p.Thr622Asn)
c.787+3459C>A (n.787+3459C>A)
c.1886C>A (p.Thr629Asn)
 COSMIC
8g.54625747C>GCA370992225RP1c.1865C>G (p.Thr622Ser)
c.787+3459C>G (n.787+3459C>G)
c.1886C>G (p.Thr629Ser)
8g.54625747C>TCA370992226RP1c.1865C>T (p.Thr622Ile)
c.787+3459C>T (n.787+3459C>T)
c.1886C>T (p.Thr629Ile)
 gnomAD v4
8g.54625748T>ACA461098477RP1c.1866T>A (p.Thr622=)
c.787+3460T>A (n.787+3460T>A)
c.1887T>A (p.Thr629=)
 dbSNP
8g.54625748T>CCA461098478RP1c.1866T>C (p.Thr622=)
c.787+3460T>C (n.787+3460T>C)
c.1887T>C (p.Thr629=)
 gnomAD v4
8g.54625748T>GCA461098479RP1c.1866T>G (p.Thr622=)
c.787+3460T>G (n.787+3460T>G)
c.1887T>G (p.Thr629=)
8g.54625748T=CA1785188011RP1c.1866T= (p.Thr622=)
c.787+3460T= (n.787+3460T=)
c.1887T= (p.Thr629=)
8g.54625749G>ACA370992227RP1c.1867G>A (p.Asp623Asn)
c.787+3461G>A (n.787+3461G>A)
c.1888G>A (p.Asp630Asn)
8g.54625749G>CCA370992228RP1c.1867G>C (p.Asp623His)
c.787+3461G>C (n.787+3461G>C)
c.1888G>C (p.Asp630His)
8g.54625749G>TCA370992229RP1c.1867G>T (p.Asp623Tyr)
c.787+3461G>T (n.787+3461G>T)
c.1888G>T (p.Asp630Tyr)
8g.54625750A>CCA370992232RP1c.1868A>C (p.Asp623Ala)
c.787+3462A>C (n.787+3462A>C)
c.1889A>C (p.Asp630Ala)
 gnomAD v4
8g.54625750A>GCA370992230RP1c.1868A>G (p.Asp623Gly)
c.787+3462A>G (n.787+3462A>G)
c.1889A>G (p.Asp630Gly)
8g.54625750A>TCA370992231RP1c.1868A>T (p.Asp623Val)
c.787+3462A>T (n.787+3462A>T)
c.1889A>T (p.Asp630Val)
8g.54625751C>ACA177236886RP1c.1869C>A (p.Asp623Glu)
c.787+3463C>A (n.787+3463C>A)
c.1890C>A (p.Asp630Glu)
 dbSNP gnomAD v4
8g.54625751C=CA1785188012RP1c.1869C= (p.Asp623=)
c.787+3463C= (n.787+3463C=)
c.1890C= (p.Asp630=)
8g.54625751C>GCA370992233RP1c.1869C>G (p.Asp623Glu)
c.787+3463C>G (n.787+3463C>G)
c.1890C>G (p.Asp630Glu)
8g.54625751C>TCA461098485RP1c.1869C>T (p.Asp623=)
c.787+3463C>T (n.787+3463C>T)
c.1890C>T (p.Asp630=)
8g.54625752_54625768delCA645560572RP1c.1870_1886del (p.Lys624SerfsTer14)
c.787+3464_787+3480del (n.787+3464_787+3480del)
c.1891_1907del (p.Lys631SerfsTer14)
 COSMIC COSMIC
8g.54625752A>CCA370992234RP1c.1870A>C (p.Lys624Gln)
c.787+3464A>C (n.787+3464A>C)
c.1891A>C (p.Lys631Gln)
8g.54625752A>GCA370992235RP1c.1870A>G (p.Lys624Glu)
c.787+3464A>G (n.787+3464A>G)
c.1891A>G (p.Lys631Glu)
8g.54625752A>TCA370992236RP1c.1870A>T (p.Lys624Ter)
c.787+3464A>T (n.787+3464A>T)
c.1891A>T (p.Lys631Ter)
8g.54625756dupCA461098486RP1c.1874dup (p.Asn625LysfsTer4)
c.787+3468dup (n.787+3468dup)
c.1895dup (p.Asn632LysfsTer4)
 COSMIC
8g.54625753A>CCA370992237RP1c.1871A>C (p.Lys624Thr)
c.787+3465A>C (n.787+3465A>C)
c.1892A>C (p.Lys631Thr)
8g.54625753A>GCA370992238RP1c.1871A>G (p.Lys624Arg)
c.787+3465A>G (n.787+3465A>G)
c.1892A>G (p.Lys631Arg)
8g.54625753A>TCA370992239RP1c.1871A>T (p.Lys624Ile)
c.787+3465A>T (n.787+3465A>T)
c.1892A>T (p.Lys631Ile)
8g.54625754A=CA1785188013RP1c.1872A= (p.Lys624=)
c.787+3466A= (n.787+3466A=)
c.1893A= (p.Lys631=)
8g.54625754A>CCA370992240RP1c.1872A>C (p.Lys624Asn)
c.787+3466A>C (n.787+3466A>C)
c.1893A>C (p.Lys631Asn)
8g.54625754A>GCA4751440RP1c.1872A>G (p.Lys624=)
c.787+3466A>G (n.787+3466A>G)
c.1893A>G (p.Lys631=)
 dbSNP ExAC gnomAD v2
8g.54625754A>TCA370992241RP1c.1872A>T (p.Lys624Asn)
c.787+3466A>T (n.787+3466A>T)
c.1893A>T (p.Lys631Asn)
8g.54625755A>CCA370992242RP1c.1873A>C (p.Asn625His)
c.787+3467A>C (n.787+3467A>C)
c.1894A>C (p.Asn632His)
8g.54625755A>GCA370992244RP1c.1873A>G (p.Asn625Asp)
c.787+3467A>G (n.787+3467A>G)
c.1894A>G (p.Asn632Asp)
8g.54625755A>TCA370992243RP1c.1873A>T (p.Asn625Tyr)
c.787+3467A>T (n.787+3467A>T)
c.1894A>T (p.Asn632Tyr)
8g.54625756A>CCA370992245RP1c.1874A>C (p.Asn625Thr)
c.787+3468A>C (n.787+3468A>C)
c.1895A>C (p.Asn632Thr)
8g.54625756A>GCA370992247RP1c.1874A>G (p.Asn625Ser)
c.787+3468A>G (n.787+3468A>G)
c.1895A>G (p.Asn632Ser)
8g.54625756A>TCA370992246RP1c.1874A>T (p.Asn625Ile)
c.787+3468A>T (n.787+3468A>T)
c.1895A>T (p.Asn632Ile)
8g.54625757T>ACA370992248RP1c.1875T>A (p.Asn625Lys)
c.787+3469T>A (n.787+3469T>A)
c.1896T>A (p.Asn632Lys)
8g.54625757T>CCA177236891RP1c.1875T>C (p.Asn625=)
c.787+3469T>C (n.787+3469T>C)
c.1896T>C (p.Asn632=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.54625757T>GCA370992249RP1c.1875T>G (p.Asn625Lys)
c.787+3469T>G (n.787+3469T>G)
c.1896T>G (p.Asn632Lys)
8g.54625757T=CA1785188014RP1c.1875T= (p.Asn625=)
c.787+3469T= (n.787+3469T=)
c.1896T= (p.Asn632=)
8g.54625758A=CA1785188015RP1c.1876A= (p.Ile626=)
c.787+3470A= (n.787+3470A=)
c.1897A= (p.Ile633=)
8g.54625758A>CCA370992250RP1c.1876A>C (p.Ile626Leu)
c.787+3470A>C (n.787+3470A>C)
c.1897A>C (p.Ile633Leu)
8g.54625758A>GCA4751441RP1c.1876A>G (p.Ile626Val)
c.787+3470A>G (n.787+3470A>G)
c.1897A>G (p.Ile633Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625758A>TCA370992251RP1c.1876A>T (p.Ile626Phe)
c.787+3470A>T (n.787+3470A>T)
c.1897A>T (p.Ile633Phe)
8g.54625759T>ACA370992252RP1c.1877T>A (p.Ile626Asn)
c.787+3471T>A (n.787+3471T>A)
c.1898T>A (p.Ile633Asn)
8g.54625759T>CCA370992253RP1c.1877T>C (p.Ile626Thr)
c.787+3471T>C (n.787+3471T>C)
c.1898T>C (p.Ile633Thr)
8g.54625759T>GCA370992254RP1c.1877T>G (p.Ile626Ser)
c.787+3471T>G (n.787+3471T>G)
c.1898T>G (p.Ile633Ser)
8g.54625760T>ACA461098502RP1c.1878T>A (p.Ile626=)
c.787+3472T>A (n.787+3472T>A)
c.1899T>A (p.Ile633=)
8g.54625760T>CCA461098505RP1c.1878T>C (p.Ile626=)
c.787+3472T>C (n.787+3472T>C)
c.1899T>C (p.Ile633=)
8g.54625760T>GCA370992255RP1c.1878T>G (p.Ile626Met)
c.787+3472T>G (n.787+3472T>G)
c.1899T>G (p.Ile633Met)
8g.54625761T>ACA370992256RP1c.1879T>A (p.Ser627Thr)
c.787+3473T>A (n.787+3473T>A)
c.1900T>A (p.Ser634Thr)
8g.54625761T>CCA370992257RP1c.1879T>C (p.Ser627Pro)
c.787+3473T>C (n.787+3473T>C)
c.1900T>C (p.Ser634Pro)
 dbSNP
8g.54625761T>GCA370992258RP1c.1879T>G (p.Ser627Ala)
c.787+3473T>G (n.787+3473T>G)
c.1900T>G (p.Ser634Ala)
8g.54625761T=CA1785188016RP1c.1879T= (p.Ser627=)
c.787+3473T= (n.787+3473T=)
c.1900T= (p.Ser634=)
8g.54625762C>ACA370992261RP1c.1880C>A (p.Ser627Tyr)
c.787+3474C>A (n.787+3474C>A)
c.1901C>A (p.Ser634Tyr)
8g.54625762C>GCA370992259RP1c.1880C>G (p.Ser627Cys)
c.787+3474C>G (n.787+3474C>G)
c.1901C>G (p.Ser634Cys)
 COSMIC
8g.54625762C>TCA370992260RP1c.1880C>T (p.Ser627Phe)
c.787+3474C>T (n.787+3474C>T)
c.1901C>T (p.Ser634Phe)
 gnomAD v4
8g.54625763T>ACA461098509RP1c.1881T>A (p.Ser627=)
c.787+3475T>A (n.787+3475T>A)
c.1902T>A (p.Ser634=)
 dbSNP
8g.54625763T>CCA461098511RP1c.1881T>C (p.Ser627=)
c.787+3475T>C (n.787+3475T>C)
c.1902T>C (p.Ser634=)
 gnomAD v4
8g.54625763T>GCA461098510RP1c.1881T>G (p.Ser627=)
c.787+3475T>G (n.787+3475T>G)
c.1902T>G (p.Ser634=)
8g.54625763T=CA1785188017RP1c.1881T= (p.Ser627=)
c.787+3475T= (n.787+3475T=)
c.1902T= (p.Ser634=)
8g.54625764G>ACA370992262RP1c.1882G>A (p.Glu628Lys)
c.787+3476G>A (n.787+3476G>A)
c.1903G>A (p.Glu635Lys)
 gnomAD v4
8g.54625764G>CCA370992263RP1c.1882G>C (p.Glu628Gln)
c.787+3476G>C (n.787+3476G>C)
c.1903G>C (p.Glu635Gln)
8g.54625764G>TCA370992264RP1c.1882G>T (p.Glu628Ter)
c.787+3476G>T (n.787+3476G>T)
c.1903G>T (p.Glu635Ter)
8g.54625765A=CA1785188018RP1c.1883A= (p.Glu628=)
c.787+3477A= (n.787+3477A=)
c.1904A= (p.Glu635=)
8g.54625765A>CCA370992265RP1c.1883A>C (p.Glu628Ala)
c.787+3477A>C (n.787+3477A>C)
c.1904A>C (p.Glu635Ala)
8g.54625765A>GCA370992266RP1c.1883A>G (p.Glu628Gly)
c.787+3477A>G (n.787+3477A>G)
c.1904A>G (p.Glu635Gly)
 ClinVar dbSNP gnomAD v4
8g.54625765A>TCA370992267RP1c.1883A>T (p.Glu628Val)
c.787+3477A>T (n.787+3477A>T)
c.1904A>T (p.Glu635Val)
8g.54625766G>ACA461098515RP1c.1884G>A (p.Glu628=)
c.787+3478G>A (n.787+3478G>A)
c.1905G>A (p.Glu635=)
8g.54625766G>CCA370992268RP1c.1884G>C (p.Glu628Asp)
c.787+3478G>C (n.787+3478G>C)
c.1905G>C (p.Glu635Asp)
8g.54625766G>TCA370992269RP1c.1884G>T (p.Glu628Asp)
c.787+3478G>T (n.787+3478G>T)
c.1905G>T (p.Glu635Asp)
8g.54625767dupCA2843341843RP1c.1885dup (p.Ala629GlyfsTer15)
c.787+3479dup (n.787+3479dup)
c.1906dup (p.Ala636GlyfsTer15)
8g.54625767G>ACA370992270RP1c.1885G>A (p.Ala629Thr)
c.787+3479G>A (n.787+3479G>A)
c.1906G>A (p.Ala636Thr)
8g.54625767G>CCA370992271RP1c.1885G>C (p.Ala629Pro)
c.787+3479G>C (n.787+3479G>C)
c.1906G>C (p.Ala636Pro)
 gnomAD v4
8g.54625767G>TCA370992272RP1c.1885G>T (p.Ala629Ser)
c.787+3479G>T (n.787+3479G>T)
c.1906G>T (p.Ala636Ser)
8g.54625768C>ACA370992275RP1c.1886C>A (p.Ala629Asp)
c.787+3480C>A (n.787+3480C>A)
c.1907C>A (p.Ala636Asp)
8g.54625768C>GCA370992274RP1c.1886C>G (p.Ala629Gly)
c.787+3480C>G (n.787+3480C>G)
c.1907C>G (p.Ala636Gly)
8g.54625768C>TCA370992273RP1c.1886C>T (p.Ala629Val)
c.787+3480C>T (n.787+3480C>T)
c.1907C>T (p.Ala636Val)
8g.54625769T>ACA461098518RP1c.1887T>A (p.Ala629=)
c.787+3481T>A (n.787+3481T>A)
c.1908T>A (p.Ala636=)
8g.54625769T>CCA461098519RP1c.1887T>C (p.Ala629=)
c.787+3481T>C (n.787+3481T>C)
c.1908T>C (p.Ala636=)
8g.54625769T>GCA461098521RP1c.1887T>G (p.Ala629=)
c.787+3481T>G (n.787+3481T>G)
c.1908T>G (p.Ala636=)
8g.54625770C>ACA370992277RP1c.1888C>A (p.Pro630Thr)
c.787+3482C>A (n.787+3482C>A)
c.1909C>A (p.Pro637Thr)
8g.54625770C=CA1785188019RP1c.1888C= (p.Pro630=)
c.787+3482C= (n.787+3482C=)
c.1909C= (p.Pro637=)
8g.54625770C>GCA370992276RP1c.1888C>G (p.Pro630Ala)
c.787+3482C>G (n.787+3482C>G)
c.1909C>G (p.Pro637Ala)
 ClinVar gnomAD v4
8g.54625770C>TCA177236896RP1c.1888C>T (p.Pro630Ser)
c.787+3482C>T (n.787+3482C>T)
c.1909C>T (p.Pro637Ser)
 dbSNP gnomAD v4
8g.54625771C>ACA370992278RP1c.1889C>A (p.Pro630Gln)
c.787+3483C>A (n.787+3483C>A)
c.1910C>A (p.Pro637Gln)
8g.54625771C>GCA370992279RP1c.1889C>G (p.Pro630Arg)
c.787+3483C>G (n.787+3483C>G)
c.1910C>G (p.Pro637Arg)
8g.54625771C>TCA370992280RP1c.1889C>T (p.Pro630Leu)
c.787+3483C>T (n.787+3483C>T)
c.1910C>T (p.Pro637Leu)
8g.54625772A=CA1785188020RP1c.1890A= (p.Pro630=)
c.787+3484A= (n.787+3484A=)
c.1911A= (p.Pro637=)
8g.54625772A>CCA461098524RP1c.1890A>C (p.Pro630=)
c.787+3484A>C (n.787+3484A>C)
c.1911A>C (p.Pro637=)
8g.54625772A>GCA461098526RP1c.1890A>G (p.Pro630=)
c.787+3484A>G (n.787+3484A>G)
c.1911A>G (p.Pro637=)
 ClinVar dbSNP gnomAD v4
8g.54625772A>TCA461098527RP1c.1890A>T (p.Pro630=)
c.787+3484A>T (n.787+3484A>T)
c.1911A>T (p.Pro637=)
8g.54625773G>ACA370992282RP1c.1891G>A (p.Ala631Thr)
c.787+3485G>A (n.787+3485G>A)
c.1912G>A (p.Ala638Thr)
 COSMIC
8g.54625773G>CCA177236899RP1c.1891G>C (p.Ala631Pro)
c.787+3485G>C (n.787+3485G>C)
c.1912G>C (p.Ala638Pro)
 dbSNP gnomAD v4
8g.54625773G=CA1785188021RP1c.1891G= (p.Ala631=)
c.787+3485G= (n.787+3485G=)
c.1912G= (p.Ala638=)
8g.54625773G>TCA370992281RP1c.1891G>T (p.Ala631Ser)
c.787+3485G>T (n.787+3485G>T)
c.1912G>T (p.Ala638Ser)
8g.54625774C>ACA370992283RP1c.1892C>A (p.Ala631Asp)
c.787+3486C>A (n.787+3486C>A)
c.1913C>A (p.Ala638Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54625774C=CA1785188022RP1c.1892C= (p.Ala631=)
c.787+3486C= (n.787+3486C=)
c.1913C= (p.Ala638=)
8g.54625774C>GCA370992284RP1c.1892C>G (p.Ala631Gly)
c.787+3486C>G (n.787+3486C>G)
c.1913C>G (p.Ala638Gly)
8g.54625774C>TCA370992285RP1c.1892C>T (p.Ala631Val)
c.787+3486C>T (n.787+3486C>T)
c.1913C>T (p.Ala638Val)
8g.54625775T>ACA461098530RP1c.1893T>A (p.Ala631=)
c.787+3487T>A (n.787+3487T>A)
c.1914T>A (p.Ala638=)
8g.54625775T>CCA461098531RP1c.1893T>C (p.Ala631=)
c.787+3487T>C (n.787+3487T>C)
c.1914T>C (p.Ala638=)
 gnomAD v4
8g.54625775T>GCA461098533RP1c.1893T>G (p.Ala631=)
c.787+3487T>G (n.787+3487T>G)
c.1914T>G (p.Ala638=)
8g.54625776T>ACA370992286RP1c.1894T>A (p.Ser632Thr)
c.787+3488T>A (n.787+3488T>A)
c.1915T>A (p.Ser639Thr)
8g.54625776T>CCA370992287RP1c.1894T>C (p.Ser632Pro)
c.787+3488T>C (n.787+3488T>C)
c.1915T>C (p.Ser639Pro)
8g.54625776T>GCA370992288RP1c.1894T>G (p.Ser632Ala)
c.787+3488T>G (n.787+3488T>G)
c.1915T>G (p.Ser639Ala)
8g.54625777delCA2687301826RP1c.1895del (p.Ser632Ter)
c.787+3489del (n.787+3489del)
c.1916del (p.Ser639Ter)
 gnomAD v4
8g.54625777C>ACA370992289RP1c.1895C>A (p.Ser632Ter)
c.787+3489C>A (n.787+3489C>A)
c.1916C>A (p.Ser639Ter)
 gnomAD v4
8g.54625777C>GCA370992291RP1c.1895C>G (p.Ser632Ter)
c.787+3489C>G (n.787+3489C>G)
c.1916C>G (p.Ser639Ter)
8g.54625777C>TCA370992290RP1c.1895C>T (p.Ser632Leu)
c.787+3489C>T (n.787+3489C>T)
c.1916C>T (p.Ser639Leu)
 COSMIC
8g.54625778A>CCA461098538RP1c.1896A>C (p.Ser632=)
c.787+3490A>C (n.787+3490A>C)
c.1917A>C (p.Ser639=)
8g.54625778A>GCA461098539RP1c.1896A>G (p.Ser632=)
c.787+3490A>G (n.787+3490A>G)
c.1917A>G (p.Ser639=)
8g.54625778A>TCA461098541RP1c.1896A>T (p.Ser632=)
c.787+3490A>T (n.787+3490A>T)
c.1917A>T (p.Ser639=)
8g.54625779G>ACA370992292RP1c.1897G>A (p.Glu633Lys)
c.787+3491G>A (n.787+3491G>A)
c.1918G>A (p.Glu640Lys)
 gnomAD v4
8g.54625779G>CCA4751442RP1c.1897G>C (p.Glu633Gln)
c.787+3491G>C (n.787+3491G>C)
c.1918G>C (p.Glu640Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625779G=CA1785188023RP1c.1897G= (p.Glu633=)
c.787+3491G= (n.787+3491G=)
c.1918G= (p.Glu640=)
8g.54625779G>TCA370992293RP1c.1897G>T (p.Glu633Ter)
c.787+3491G>T (n.787+3491G>T)
c.1918G>T (p.Glu640Ter)
8g.54625780A>CCA370992294RP1c.1898A>C (p.Glu633Ala)
c.787+3492A>C (n.787+3492A>C)
c.1919A>C (p.Glu640Ala)
8g.54625780A>GCA370992295RP1c.1898A>G (p.Glu633Gly)
c.787+3492A>G (n.787+3492A>G)
c.1919A>G (p.Glu640Gly)
8g.54625780A>TCA370992296RP1c.1898A>T (p.Glu633Val)
c.787+3492A>T (n.787+3492A>T)
c.1919A>T (p.Glu640Val)
8g.54625781A>CCA370992297RP1c.1899A>C (p.Glu633Asp)
c.787+3493A>C (n.787+3493A>C)
c.1920A>C (p.Glu640Asp)
8g.54625781A>GCA461098547RP1c.1899A>G (p.Glu633=)
c.787+3493A>G (n.787+3493A>G)
c.1920A>G (p.Glu640=)
8g.54625781A>TCA370992298RP1c.1899A>T (p.Glu633Asp)
c.787+3493A>T (n.787+3493A>T)
c.1920A>T (p.Glu640Asp)
8g.54625782G>ACA4751443RP1c.1900G>A (p.Ala634Thr)
c.787+3494G>A (n.787+3494G>A)
c.1921G>A (p.Ala641Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625782G>CCA370992299RP1c.1900G>C (p.Ala634Pro)
c.787+3494G>C (n.787+3494G>C)
c.1921G>C (p.Ala641Pro)
8g.54625782G=CA1785188024RP1c.1900G= (p.Ala634=)
c.787+3494G= (n.787+3494G=)
c.1921G= (p.Ala641=)
8g.54625782G>TCA370992300RP1c.1900G>T (p.Ala634Ser)
c.787+3494G>T (n.787+3494G>T)
c.1921G>T (p.Ala641Ser)
8g.54625783C>ACA370992302RP1c.1901C>A (p.Ala634Glu)
c.787+3495C>A (n.787+3495C>A)
c.1922C>A (p.Ala641Glu)
8g.54625783C=CA1785188025RP1c.1901C= (p.Ala634=)
c.787+3495C= (n.787+3495C=)
c.1922C= (p.Ala641=)
8g.54625783C>GCA370992303RP1c.1901C>G (p.Ala634Gly)
c.787+3495C>G (n.787+3495C>G)
c.1922C>G (p.Ala641Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.54625783C>TCA370992301RP1c.1901C>T (p.Ala634Val)
c.787+3495C>T (n.787+3495C>T)
c.1922C>T (p.Ala641Val)
 dbSNP gnomAD v2 gnomAD v4
8g.54625784A>CCA461098559RP1c.1902A>C (p.Ala634=)
c.787+3496A>C (n.787+3496A>C)
c.1923A>C (p.Ala641=)
8g.54625784A>GCA461098561RP1c.1902A>G (p.Ala634=)
c.787+3496A>G (n.787+3496A>G)
c.1923A>G (p.Ala641=)
8g.54625784A>TCA461098562RP1c.1902A>T (p.Ala634=)
c.787+3496A>T (n.787+3496A>T)
c.1923A>T (p.Ala641=)
8g.54625785T>ACA370992304RP1c.1903T>A (p.Ser635Thr)
c.787+3497T>A (n.787+3497T>A)
c.1924T>A (p.Ser642Thr)
8g.54625785T>CCA370992306RP1c.1903T>C (p.Ser635Pro)
c.787+3497T>C (n.787+3497T>C)
c.1924T>C (p.Ser642Pro)
8g.54625785T>GCA370992305RP1c.1903T>G (p.Ser635Ala)
c.787+3497T>G (n.787+3497T>G)
c.1924T>G (p.Ser642Ala)
8g.54625786C>ACA370992307RP1c.1904C>A (p.Ser635Tyr)
c.787+3498C>A (n.787+3498C>A)
c.1925C>A (p.Ser642Tyr)
8g.54625786C>GCA370992308RP1c.1904C>G (p.Ser635Cys)
c.787+3498C>G (n.787+3498C>G)
c.1925C>G (p.Ser642Cys)
8g.54625786C>TCA370992309RP1c.1904C>T (p.Ser635Phe)
c.787+3498C>T (n.787+3498C>T)
c.1925C>T (p.Ser642Phe)
8g.54625787C>ACA461098564RP1c.1905C>A (p.Ser635=)
c.787+3499C>A (n.787+3499C>A)
c.1926C>A (p.Ser642=)
8g.54625787C>GCA461098565RP1c.1905C>G (p.Ser635=)
c.787+3499C>G (n.787+3499C>G)
c.1926C>G (p.Ser642=)
8g.54625787C>TCA461098566RP1c.1905C>T (p.Ser635=)
c.787+3499C>T (n.787+3499C>T)
c.1926C>T (p.Ser642=)
 gnomAD v4
8g.54625788T>ACA4751444RP1c.1906T>A (p.Ser636Thr)
c.787+3500T>A (n.787+3500T>A)
c.1927T>A (p.Ser643Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625788T>CCA370992310RP1c.1906T>C (p.Ser636Pro)
c.787+3500T>C (n.787+3500T>C)
c.1927T>C (p.Ser643Pro)
8g.54625788T>GCA370992311RP1c.1906T>G (p.Ser636Ala)
c.787+3500T>G (n.787+3500T>G)
c.1927T>G (p.Ser643Ala)
8g.54625788T=CA1785188026RP1c.1906T= (p.Ser636=)
c.787+3500T= (n.787+3500T=)
c.1927T= (p.Ser643=)
8g.54625789C>ACA370992312RP1c.1907C>A (p.Ser636Tyr)
c.787+3501C>A (n.787+3501C>A)
c.1928C>A (p.Ser643Tyr)
8g.54625789C=CA1785188027RP1c.1907C= (p.Ser636=)
c.787+3501C= (n.787+3501C=)
c.1928C= (p.Ser643=)
8g.54625789C>GCA4751446RP1c.1907C>G (p.Ser636Cys)
c.787+3501C>G (n.787+3501C>G)
c.1928C>G (p.Ser643Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625789C>TCA4751445RP1c.1907C>T (p.Ser636Phe)
c.787+3501C>T (n.787+3501C>T)
c.1928C>T (p.Ser643Phe)
 dbSNP ExAC gnomAD v4
8g.54625790T>ACA461098568RP1c.1908T>A (p.Ser636=)
c.787+3502T>A (n.787+3502T>A)
c.1929T>A (p.Ser643=)
8g.54625790T>CCA461098569RP1c.1908T>C (p.Ser636=)
c.787+3502T>C (n.787+3502T>C)
c.1929T>C (p.Ser643=)
8g.54625790T>GCA461098570RP1c.1908T>G (p.Ser636=)
c.787+3502T>G (n.787+3502T>G)
c.1929T>G (p.Ser643=)
8g.54625790dupCA2687301827RP1c.1908dup (p.Thr637TyrfsTer7)
c.787+3502dup (n.787+3502dup)
c.1929dup (p.Thr644TyrfsTer7)
 gnomAD v4
8g.54625791A>CCA370992313RP1c.1909A>C (p.Thr637Pro)
c.787+3503A>C (n.787+3503A>C)
c.1930A>C (p.Thr644Pro)
8g.54625791A>GCA370992314RP1c.1909A>G (p.Thr637Ala)
c.787+3503A>G (n.787+3503A>G)
c.1930A>G (p.Thr644Ala)
8g.54625791A>TCA370992315RP1c.1909A>T (p.Thr637Ser)
c.787+3503A>T (n.787+3503A>T)
c.1930A>T (p.Thr644Ser)
8g.54625792C>ACA370992318RP1c.1910C>A (p.Thr637Asn)
c.787+3504C>A (n.787+3504C>A)
c.1931C>A (p.Thr644Asn)
8g.54625792C=CA1785188028RP1c.1910C= (p.Thr637=)
c.787+3504C= (n.787+3504C=)
c.1931C= (p.Thr644=)
8g.54625792C>GCA370992316RP1c.1910C>G (p.Thr637Ser)
c.787+3504C>G (n.787+3504C>G)
c.1931C>G (p.Thr644Ser)
 gnomAD v4
8g.54625792C>TCA370992317RP1c.1910C>T (p.Thr637Ile)
c.787+3504C>T (n.787+3504C>T)
c.1931C>T (p.Thr644Ile)
 dbSNP
8g.54625793T>ACA461098576RP1c.1911T>A (p.Thr637=)
c.787+3505T>A (n.787+3505T>A)
c.1932T>A (p.Thr644=)
8g.54625793T>CCA461098575RP1c.1911T>C (p.Thr637=)
c.787+3505T>C (n.787+3505T>C)
c.1932T>C (p.Thr644=)
8g.54625793T>GCA461098574RP1c.1911T>G (p.Thr637=)
c.787+3505T>G (n.787+3505T>G)
c.1932T>G (p.Thr644=)
8g.54625794G>ACA370992319RP1c.1912G>A (p.Val638Ile)
c.787+3506G>A (n.787+3506G>A)
c.1933G>A (p.Val645Ile)
8g.54625794G>CCA177236909RP1c.1912G>C (p.Val638Leu)
c.787+3506G>C (n.787+3506G>C)
c.1933G>C (p.Val645Leu)
 dbSNP
8g.54625794G=CA1785188029RP1c.1912G= (p.Val638=)
c.787+3506G= (n.787+3506G=)
c.1933G= (p.Val645=)
8g.54625794G>TCA370992320RP1c.1912G>T (p.Val638Phe)
c.787+3506G>T (n.787+3506G>T)
c.1933G>T (p.Val645Phe)
8g.54625795T>ACA370992321RP1c.1913T>A (p.Val638Asp)
c.787+3507T>A (n.787+3507T>A)
c.1934T>A (p.Val645Asp)
8g.54625795T>CCA370992322RP1c.1913T>C (p.Val638Ala)
c.787+3507T>C (n.787+3507T>C)
c.1934T>C (p.Val645Ala)
8g.54625795T>GCA370992323RP1c.1913T>G (p.Val638Gly)
c.787+3507T>G (n.787+3507T>G)
c.1934T>G (p.Val645Gly)
8g.54625796C>ACA461098580RP1c.1914C>A (p.Val638=)
c.787+3508C>A (n.787+3508C>A)
c.1935C>A (p.Val645=)
 gnomAD v4
8g.54625796C=CA1785188030RP1c.1914C= (p.Val638=)
c.787+3508C= (n.787+3508C=)
c.1935C= (p.Val645=)
8g.54625796C>GCA461098581RP1c.1914C>G (p.Val638=)
c.787+3508C>G (n.787+3508C>G)
c.1935C>G (p.Val645=)
8g.54625796C>TCA4751447RP1c.1914C>T (p.Val638=)
c.787+3508C>T (n.787+3508C>T)
c.1935C>T (p.Val645=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625797A>CCA370992324RP1c.1915A>C (p.Thr639Pro)
c.787+3509A>C (n.787+3509A>C)
c.1936A>C (p.Thr646Pro)
8g.54625797A>GCA370992325RP1c.1915A>G (p.Thr639Ala)
c.787+3509A>G (n.787+3509A>G)
c.1936A>G (p.Thr646Ala)
8g.54625797A>TCA370992326RP1c.1915A>T (p.Thr639Ser)
c.787+3509A>T (n.787+3509A>T)
c.1936A>T (p.Thr646Ser)
8g.54625798C>ACA370992329RP1c.1916C>A (p.Thr639Asn)
c.787+3510C>A (n.787+3510C>A)
c.1937C>A (p.Thr646Asn)
8g.54625798C>GCA370992328RP1c.1916C>G (p.Thr639Ser)
c.787+3510C>G (n.787+3510C>G)
c.1937C>G (p.Thr646Ser)
8g.54625798C>TCA370992327RP1c.1916C>T (p.Thr639Ile)
c.787+3510C>T (n.787+3510C>T)
c.1937C>T (p.Thr646Ile)
8g.54625798_54625807delCA2598452879RP1c.1916_1925del (p.Thr639MetfsTer4)
c.787+3510_787+3519del (n.787+3510_787+3519del)
c.1937_1946del (p.Thr646MetfsTer4)
 gnomAD v3 gnomAD v4
8g.54625799T>ACA461098585RP1c.1917T>A (p.Thr639=)
c.787+3511T>A (n.787+3511T>A)
c.1938T>A (p.Thr646=)
8g.54625799T>CCA461098586RP1c.1917T>C (p.Thr639=)
c.787+3511T>C (n.787+3511T>C)
c.1938T>C (p.Thr646=)
8g.54625799T>GCA461098587RP1c.1917T>G (p.Thr639=)
c.787+3511T>G (n.787+3511T>G)
c.1938T>G (p.Thr646=)
8g.54625800G>ACA370992330RP1c.1918G>A (p.Ala640Thr)
c.787+3512G>A (n.787+3512G>A)
c.1939G>A (p.Ala647Thr)
 dbSNP gnomAD v2 gnomAD v4
8g.54625800G>CCA370992331RP1c.1918G>C (p.Ala640Pro)
c.787+3512G>C (n.787+3512G>C)
c.1939G>C (p.Ala647Pro)
8g.54625800G=CA1785188031RP1c.1918G= (p.Ala640=)
c.787+3512G= (n.787+3512G=)
c.1939G= (p.Ala647=)
8g.54625800G>TCA370992332RP1c.1918G>T (p.Ala640Ser)
c.787+3512G>T (n.787+3512G>T)
c.1939G>T (p.Ala647Ser)
 gnomAD v4
8g.54625801C>ACA370992333RP1c.1919C>A (p.Ala640Glu)
c.787+3513C>A (n.787+3513C>A)
c.1940C>A (p.Ala647Glu)
8g.54625801C>GCA370992334RP1c.1919C>G (p.Ala640Gly)
c.787+3513C>G (n.787+3513C>G)
c.1940C>G (p.Ala647Gly)
8g.54625801C>TCA370992335RP1c.1919C>T (p.Ala640Val)
c.787+3513C>T (n.787+3513C>T)
c.1940C>T (p.Ala647Val)
8g.54625801dupCA2780387000RP1c.1919dup (p.Arg641LysfsTer3)
c.787+3513dup (n.787+3513dup)
c.1940dup (p.Arg648LysfsTer3)
8g.54625802A=CA1785188032RP1c.1920A= (p.Ala640=)
c.787+3514A= (n.787+3514A=)
c.1941A= (p.Ala647=)
8g.54625802A>CCA461098591RP1c.1920A>C (p.Ala640=)
c.787+3514A>C (n.787+3514A>C)
c.1941A>C (p.Ala647=)
8g.54625802A>GCA461098592RP1c.1920A>G (p.Ala640=)
c.787+3514A>G (n.787+3514A>G)
c.1941A>G (p.Ala647=)
 gnomAD v4
8g.54625802A>TCA4751448RP1c.1920A>T (p.Ala640=)
c.787+3514A>T (n.787+3514A>T)
c.1941A>T (p.Ala647=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54625803A>CCA461098593RP1c.1921A>C (p.Arg641=)
c.787+3515A>C (n.787+3515A>C)
c.1942A>C (p.Arg648=)
8g.54625803A>GCA370992336RP1c.1921A>G (p.Arg641Gly)
c.787+3515A>G (n.787+3515A>G)
c.1942A>G (p.Arg648Gly)
 COSMIC
8g.54625803A>TCA370992337RP1c.1921A>T (p.Arg641Ter)
c.787+3515A>T (n.787+3515A>T)
c.1942A>T (p.Arg648Ter)
8g.54625804G>ACA370992338RP1c.1922G>A (p.Arg641Lys)
c.787+3516G>A (n.787+3516G>A)
c.1943G>A (p.Arg648Lys)
 COSMIC
8g.54625804G>CCA370992339RP1c.1922G>C (p.Arg641Thr)
c.787+3516G>C (n.787+3516G>C)
c.1943G>C (p.Arg648Thr)
8g.54625804G>TCA370992340RP1c.1922G>T (p.Arg641Ile)
c.787+3516G>T (n.787+3516G>T)
c.1943G>T (p.Arg648Ile)
 COSMIC
8g.54625805A=CA1785188033RP1c.1923A= (p.Arg641=)
c.787+3517A= (n.787+3517A=)
c.1944A= (p.Arg648=)
8g.54625805A>CCA370992342RP1c.1923A>C (p.Arg641Ser)
c.787+3517A>C (n.787+3517A>C)
c.1944A>C (p.Arg648Ser)
8g.54625805A>GCA461098595RP1c.1923A>G (p.Arg641=)
c.787+3517A>G (n.787+3517A>G)
c.1944A>G (p.Arg648=)
 dbSNP COSMIC
8g.54625805A>TCA370992341RP1c.1923A>T (p.Arg641Ser)
c.787+3517A>T (n.787+3517A>T)
c.1944A>T (p.Arg648Ser)
8g.54625806A>CCA370992343RP1c.1924A>C (p.Ile642Leu)
c.787+3518A>C (n.787+3518A>C)
c.1945A>C (p.Ile649Leu)
8g.54625806A>GCA370992344RP1c.1924A>G (p.Ile642Val)
c.787+3518A>G (n.787+3518A>G)
c.1945A>G (p.Ile649Val)
8g.54625806A>TCA370992345RP1c.1924A>T (p.Ile642Phe)
c.787+3518A>T (n.787+3518A>T)
c.1945A>T (p.Ile649Phe)
8g.54625807T>ACA370992346RP1c.1925T>A (p.Ile642Asn)
c.787+3519T>A (n.787+3519T>A)
c.1946T>A (p.Ile649Asn)
 COSMIC
8g.54625807T>CCA370992347RP1c.1925T>C (p.Ile642Thr)
c.787+3519T>C (n.787+3519T>C)
c.1946T>C (p.Ile649Thr)
8g.54625807T>GCA370992348RP1c.1925T>G (p.Ile642Ser)
c.787+3519T>G (n.787+3519T>G)
c.1946T>G (p.Ile649Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.54625807T=CA1785188034RP1c.1925T= (p.Ile642=)
c.787+3519T= (n.787+3519T=)
c.1946T= (p.Ile649=)
8g.54625808T>ACA461098598RP1c.1926T>A (p.Ile642=)
c.787+3520T>A (n.787+3520T>A)
c.1947T>A (p.Ile649=)
 gnomAD v4
8g.54625808T>CCA461098599RP1c.1926T>C (p.Ile642=)
c.787+3520T>C (n.787+3520T>C)
c.1947T>C (p.Ile649=)
8g.54625808T>GCA370992349RP1c.1926T>G (p.Ile642Met)
c.787+3520T>G (n.787+3520T>G)
c.1947T>G (p.Ile649Met)
8g.54625808_54625813delCA2780387001RP1c.1926_1931del (p.Asp643_Arg644del)
c.787+3520_787+3525del (n.787+3520_787+3525del)
c.1947_1952del (p.Asp650_Arg651del)
8g.54625809G>ACA370992350RP1c.1927G>A (p.Asp643Asn)
c.787+3521G>A (n.787+3521G>A)
c.1948G>A (p.Asp650Asn)
8g.54625809G>CCA370992351RP1c.1927G>C (p.Asp643His)
c.787+3521G>C (n.787+3521G>C)
c.1948G>C (p.Asp650His)
8g.54625809G>TCA370992352RP1c.1927G>T (p.Asp643Tyr)
c.787+3521G>T (n.787+3521G>T)
c.1948G>T (p.Asp650Tyr)
8g.54625810A=CA1785188035RP1c.1928A= (p.Asp643=)
c.787+3522A= (n.787+3522A=)
c.1949A= (p.Asp650=)
8g.54625810A>CCA370992353RP1c.1928A>C (p.Asp643Ala)
c.787+3522A>C (n.787+3522A>C)
c.1949A>C (p.Asp650Ala)
8g.54625810A>GCA370992354RP1c.1928A>G (p.Asp643Gly)
c.787+3522A>G (n.787+3522A>G)
c.1949A>G (p.Asp650Gly)
 gnomAD v4
8g.54625810A>TCA370992355RP1c.1928A>T (p.Asp643Val)
c.787+3522A>T (n.787+3522A>T)
c.1949A>T (p.Asp650Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54625811C>ACA370992356RP1c.1929C>A (p.Asp643Glu)
c.787+3523C>A (n.787+3523C>A)
c.1950C>A (p.Asp650Glu)
8g.54625811C=CA1785188036RP1c.1929C= (p.Asp643=)
c.787+3523C= (n.787+3523C=)
c.1950C= (p.Asp650=)
8g.54625811C>GCA370992357RP1c.1929C>G (p.Asp643Glu)
c.787+3523C>G (n.787+3523C>G)
c.1950C>G (p.Asp650Glu)
 dbSNP gnomAD v4
8g.54625811C>TCA461098601RP1c.1929C>T (p.Asp643=)
c.787+3523C>T (n.787+3523C>T)
c.1950C>T (p.Asp650=)
 dbSNP
8g.54625812A>CCA461098602RP1c.1930A>C (p.Arg644=)
c.787+3524A>C (n.787+3524A>C)
c.1951A>C (p.Arg651=)
8g.54625812A>GCA370992358RP1c.1930A>G (p.Arg644Gly)
c.787+3524A>G (n.787+3524A>G)
c.1951A>G (p.Arg651Gly)
 gnomAD v4
8g.54625812A>TCA370992359RP1c.1930A>T (p.Arg644Ter)
c.787+3524A>T (n.787+3524A>T)
c.1951A>T (p.Arg651Ter)
8g.54625813G>ACA370992360RP1c.1931G>A (p.Arg644Lys)
c.787+3525G>A (n.787+3525G>A)
c.1952G>A (p.Arg651Lys)
 COSMIC
8g.54625813G>CCA370992362RP1c.1931G>C (p.Arg644Thr)
c.787+3525G>C (n.787+3525G>C)
c.1952G>C (p.Arg651Thr)
 ClinVar
8g.54625813G>TCA370992361RP1c.1931G>T (p.Arg644Ile)
c.787+3525G>T (n.787+3525G>T)
c.1952G>T (p.Arg651Ile)
8g.54625814A>CCA370992363RP1c.1932A>C (p.Arg644Ser)
c.787+3526A>C (n.787+3526A>C)
c.1953A>C (p.Arg651Ser)
8g.54625814A>GCA461098604RP1c.1932A>G (p.Arg644=)
c.787+3526A>G (n.787+3526A>G)
c.1953A>G (p.Arg651=)
8g.54625814A>TCA370992364RP1c.1932A>T (p.Arg644Ser)
c.787+3526A>T (n.787+3526A>T)
c.1953A>T (p.Arg651Ser)
8g.54625815C>ACA370992365RP1c.1933C>A (p.Leu645Ile)
c.787+3527C>A (n.787+3527C>A)
c.1954C>A (p.Leu652Ile)
 gnomAD v4
8g.54625815C=CA1785188037RP1c.1933C= (p.Leu645=)
c.787+3527C= (n.787+3527C=)
c.1954C= (p.Leu652=)
8g.54625815C>GCA370992366RP1c.1933C>G (p.Leu645Val)
c.787+3527C>G (n.787+3527C>G)
c.1954C>G (p.Leu652Val)
8g.54625815C>TCA461098605RP1c.1933C>T (p.Leu645=)
c.787+3527C>T (n.787+3527C>T)
c.1954C>T (p.Leu652=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.54625816T>ACA370992367RP1c.1934T>A (p.Leu645Gln)
c.787+3528T>A (n.787+3528T>A)
c.1955T>A (p.Leu652Gln)
8g.54625816T>CCA177236919RP1c.1934T>C (p.Leu645Pro)
c.787+3528T>C (n.787+3528T>C)
c.1955T>C (p.Leu652Pro)
 ClinVar dbSNP gnomAD v4
8g.54625816T>GCA370992368RP1c.1934T>G (p.Leu645Arg)
c.787+3528T>G (n.787+3528T>G)
c.1955T>G (p.Leu652Arg)
8g.54625816T=CA1785188038RP1c.1934T= (p.Leu645=)
c.787+3528T= (n.787+3528T=)
c.1955T= (p.Leu652=)
8g.54625820_54625823delCA2687301828RP1c.1938_1941del (p.Ile646MetfsTer8)
c.787+3532_787+3535del (n.787+3532_787+3535del)
c.1959_1962del (p.Ile653MetfsTer8)
 ClinVar gnomAD v4
8g.54625817A>CCA461098608RP1c.1935A>C (p.Leu645=)
c.787+3529A>C (n.787+3529A>C)
c.1956A>C (p.Leu652=)
8g.54625817A>GCA461098606RP1c.1935A>G (p.Leu645=)
c.787+3529A>G (n.787+3529A>G)
c.1956A>G (p.Leu652=)
8g.54625817A>TCA461098607RP1c.1935A>T (p.Leu645=)
c.787+3529A>T (n.787+3529A>T)
c.1956A>T (p.Leu652=)
8g.54625818A>CCA370992369RP1c.1936A>C (p.Ile646Leu)
c.787+3530A>C (n.787+3530A>C)
c.1957A>C (p.Ile653Leu)
8g.54625818A>GCA370992370RP1c.1936A>G (p.Ile646Val)
c.787+3530A>G (n.787+3530A>G)
c.1957A>G (p.Ile653Val)
8g.54625818A>TCA370992371RP1c.1936A>T (p.Ile646Phe)
c.787+3530A>T (n.787+3530A>T)
c.1957A>T (p.Ile653Phe)
8g.54625819T>ACA370992372RP1c.1937T>A (p.Ile646Asn)
c.787+3531T>A (n.787+3531T>A)
c.1958T>A (p.Ile653Asn)
8g.54625819T>CCA370992373RP1c.1937T>C (p.Ile646Thr)
c.787+3531T>C (n.787+3531T>C)
c.1958T>C (p.Ile653Thr)
8g.54625819T>GCA370992374RP1c.1937T>G (p.Ile646Ser)
c.787+3531T>G (n.787+3531T>G)
c.1958T>G (p.Ile653Ser)
8g.54625820T>ACA461098609RP1c.1938T>A (p.Ile646=)
c.787+3532T>A (n.787+3532T>A)
c.1959T>A (p.Ile653=)
8g.54625820T>CCA461098610RP1c.1938T>C (p.Ile646=)
c.787+3532T>C (n.787+3532T>C)
c.1959T>C (p.Ile653=)
8g.54625820T>GCA370992375RP1c.1938T>G (p.Ile646Met)
c.787+3532T>G (n.787+3532T>G)
c.1959T>G (p.Ile653Met)
8g.54625821A>CCA370992378RP1c.1939A>C (p.Asn647His)
c.787+3533A>C (n.787+3533A>C)
c.1960A>C (p.Asn654His)
8g.54625821A>GCA370992376RP1c.1939A>G (p.Asn647Asp)
c.787+3533A>G (n.787+3533A>G)
c.1960A>G (p.Asn654Asp)
8g.54625821A>TCA370992377RP1c.1939A>T (p.Asn647Tyr)
c.787+3533A>T (n.787+3533A>T)
c.1960A>T (p.Asn654Tyr)
8g.54625822A>CCA370992379RP1c.1940A>C (p.Asn647Thr)
c.787+3534A>C (n.787+3534A>C)
c.1961A>C (p.Asn654Thr)
 gnomAD v4
8g.54625822A>GCA370992380RP1c.1940A>G (p.Asn647Ser)
c.787+3534A>G (n.787+3534A>G)
c.1961A>G (p.Asn654Ser)
8g.54625822A>TCA370992381RP1c.1940A>T (p.Asn647Ile)
c.787+3534A>T (n.787+3534A>T)
c.1961A>T (p.Asn654Ile)
8g.54625823T>ACA370992382RP1c.1941T>A (p.Asn647Lys)
c.787+3535T>A (n.787+3535T>A)
c.1962T>A (p.Asn654Lys)
8g.54625823T>CCA461098612RP1c.1941T>C (p.Asn647=)
c.787+3535T>C (n.787+3535T>C)
c.1962T>C (p.Asn654=)
 gnomAD v4
8g.54625823T>GCA370992383RP1c.1941T>G (p.Asn647Lys)
c.787+3535T>G (n.787+3535T>G)
c.1962T>G (p.Asn654Lys)
8g.54625824G>ACA370992384RP1c.1942G>A (p.Glu648Lys)
c.787+3536G>A (n.787+3536G>A)
c.1963G>A (p.Glu655Lys)
 COSMIC
8g.54625824G>CCA370992385RP1c.1942G>C (p.Glu648Gln)
c.787+3536G>C (n.787+3536G>C)
c.1963G>C (p.Glu655Gln)
8g.54625824G>TCA370992386RP1c.1942G>T (p.Glu648Ter)
c.787+3536G>T (n.787+3536G>T)
c.1963G>T (p.Glu655Ter)
8g.54625825A=CA1785188039RP1c.1943A= (p.Glu648=)
c.787+3537A= (n.787+3537A=)
c.1964A= (p.Glu655=)
8g.54625825A>CCA4751449RP1c.1943A>C (p.Glu648Ala)
c.787+3537A>C (n.787+3537A>C)
c.1964A>C (p.Glu655Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625825A>GCA370992387RP1c.1943A>G (p.Glu648Gly)
c.787+3537A>G (n.787+3537A>G)
c.1964A>G (p.Glu655Gly)
8g.54625825A>TCA370992388RP1c.1943A>T (p.Glu648Val)
c.787+3537A>T (n.787+3537A>T)
c.1964A>T (p.Glu655Val)
 gnomAD v4
8g.54625826A>CCA370992389RP1c.1944A>C (p.Glu648Asp)
c.787+3538A>C (n.787+3538A>C)
c.1965A>C (p.Glu655Asp)
8g.54625826A>GCA461098614RP1c.1944A>G (p.Glu648=)
c.787+3538A>G (n.787+3538A>G)
c.1965A>G (p.Glu655=)
8g.54625826A>TCA370992390RP1c.1944A>T (p.Glu648Asp)
c.787+3538A>T (n.787+3538A>T)
c.1965A>T (p.Glu655Asp)
8g.54625827T>ACA370992391RP1c.1945T>A (p.Phe649Ile)
c.787+3539T>A (n.787+3539T>A)
c.1966T>A (p.Phe656Ile)
8g.54625827T>CCA370992392RP1c.1945T>C (p.Phe649Leu)
c.787+3539T>C (n.787+3539T>C)
c.1966T>C (p.Phe656Leu)
8g.54625827T>GCA370992393RP1c.1945T>G (p.Phe649Val)
c.787+3539T>G (n.787+3539T>G)
c.1966T>G (p.Phe656Val)
8g.54625828T>ACA370992394RP1c.1946T>A (p.Phe649Tyr)
c.787+3540T>A (n.787+3540T>A)
c.1967T>A (p.Phe656Tyr)
8g.54625828T>CCA370992395RP1c.1946T>C (p.Phe649Ser)
c.787+3540T>C (n.787+3540T>C)
c.1967T>C (p.Phe656Ser)
8g.54625828T>GCA370992396RP1c.1946T>G (p.Phe649Cys)
c.787+3540T>G (n.787+3540T>G)
c.1967T>G (p.Phe656Cys)
8g.54625829T>ACA370992397RP1c.1947T>A (p.Phe649Leu)
c.787+3541T>A (n.787+3541T>A)
c.1968T>A (p.Phe656Leu)
8g.54625829T>CCA461098617RP1c.1947T>C (p.Phe649=)
c.787+3541T>C (n.787+3541T>C)
c.1968T>C (p.Phe656=)
8g.54625829T>GCA370992398RP1c.1947T>G (p.Phe649Leu)
c.787+3541T>G (n.787+3541T>G)
c.1968T>G (p.Phe656Leu)
8g.54625830G>ACA370992399RP1c.1948G>A (p.Ala650Thr)
c.787+3542G>A (n.787+3542G>A)
c.1969G>A (p.Ala657Thr)
8g.54625830G>CCA370992400RP1c.1948G>C (p.Ala650Pro)
c.787+3542G>C (n.787+3542G>C)
c.1969G>C (p.Ala657Pro)
8g.54625830G=CA1785188040RP1c.1948G= (p.Ala650=)
c.787+3542G= (n.787+3542G=)
c.1969G= (p.Ala657=)
8g.54625830G>TCA370992401RP1c.1948G>T (p.Ala650Ser)
c.787+3542G>T (n.787+3542G>T)
c.1969G>T (p.Ala657Ser)
 ClinVar dbSNP gnomAD v4
8g.54625831C>ACA370992404RP1c.1949C>A (p.Ala650Asp)
c.787+3543C>A (n.787+3543C>A)
c.1970C>A (p.Ala657Asp)
8g.54625831C=CA1785188041RP1c.1949C= (p.Ala650=)
c.787+3543C= (n.787+3543C=)
c.1970C= (p.Ala657=)
8g.54625831C>GCA370992403RP1c.1949C>G (p.Ala650Gly)
c.787+3543C>G (n.787+3543C>G)
c.1970C>G (p.Ala657Gly)
8g.54625831C>TCA370992402RP1c.1949C>T (p.Ala650Val)
c.787+3543C>T (n.787+3543C>T)
c.1970C>T (p.Ala657Val)
 dbSNP gnomAD v4
8g.54625832T>ACA461098621RP1c.1950T>A (p.Ala650=)
c.787+3544T>A (n.787+3544T>A)
c.1971T>A (p.Ala657=)
8g.54625832T>CCA461098623RP1c.1950T>C (p.Ala650=)
c.787+3544T>C (n.787+3544T>C)
c.1971T>C (p.Ala657=)
 gnomAD v4
8g.54625832T>GCA461098624RP1c.1950T>G (p.Ala650=)
c.787+3544T>G (n.787+3544T>G)
c.1971T>G (p.Ala657=)
8g.54625833C>ACA370992405RP1c.1951C>A (p.Gln651Lys)
c.787+3545C>A (n.787+3545C>A)
c.1972C>A (p.Gln658Lys)
8g.54625833C>GCA370992406RP1c.1951C>G (p.Gln651Glu)
c.787+3545C>G (n.787+3545C>G)
c.1972C>G (p.Gln658Glu)
8g.54625833C>TCA370992407RP1c.1951C>T (p.Gln651Ter)
c.787+3545C>T (n.787+3545C>T)
c.1972C>T (p.Gln658Ter)
 gnomAD v4
8g.54625833_54625849delCA2780387002RP1c.1951_1967del (p.Gln651ThrfsTer5)
c.787+3545_787+3561del (n.787+3545_787+3561del)
c.1972_1988del (p.Gln658ThrfsTer5)
8g.54625834A>CCA370992408RP1c.1952A>C (p.Gln651Pro)
c.787+3546A>C (n.787+3546A>C)
c.1973A>C (p.Gln658Pro)
8g.54625834A>GCA370992409RP1c.1952A>G (p.Gln651Arg)
c.787+3546A>G (n.787+3546A>G)
c.1973A>G (p.Gln658Arg)
8g.54625834A>TCA370992410RP1c.1952A>T (p.Gln651Leu)
c.787+3546A>T (n.787+3546A>T)
c.1973A>T (p.Gln658Leu)
8g.54625835G>ACA4751450RP1c.1953G>A (p.Gln651=)
c.787+3547G>A (n.787+3547G>A)
c.1974G>A (p.Gln658=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54625835G>CCA370992411RP1c.1953G>C (p.Gln651His)
c.787+3547G>C (n.787+3547G>C)
c.1974G>C (p.Gln658His)
8g.54625835G=CA1785188042RP1c.1953G= (p.Gln651=)
c.787+3547G= (n.787+3547G=)
c.1974G= (p.Gln658=)
8g.54625835G>TCA370992412RP1c.1953G>T (p.Gln651His)
c.787+3547G>T (n.787+3547G>T)
c.1974G>T (p.Gln658His)

Number of alleles fetched