Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91273343G>ACA390609794CCDC88Cc.5369C>T (p.Ala1790Val)
c.924+17C>T (n.924+17C>T)
c.1597C>T
c.5261C>T (p.Ala1754Val)
c.2450C>T (p.Ala817Val)
 dbSNP gnomAD v4
14g.91273343G>CCA390609796CCDC88Cc.5369C>G (p.Ala1790Gly)
c.924+17C>G (n.924+17C>G)
c.1597C>G
c.5261C>G (p.Ala1754Gly)
c.2450C>G (p.Ala817Gly)
14g.91273343G=CA2154902028CCDC88Cc.5369C= (p.Ala1790=)
c.924+17C= (n.924+17C=)
c.1597C=
c.5261C= (p.Ala1754=)
c.2450C= (p.Ala817=)
14g.91273343G>TCA390609792CCDC88Cc.5369C>A (p.Ala1790Asp)
c.924+17C>A (n.924+17C>A)
c.1597C>A
c.5261C>A (p.Ala1754Asp)
c.2450C>A (p.Ala817Asp)
 gnomAD v4
14g.91273344C>ACA390609800CCDC88Cc.5368G>T (p.Ala1790Ser)
c.924+16G>T (n.924+16G>T)
c.1596G>T
c.5260G>T (p.Ala1754Ser)
c.2449G>T (p.Ala817Ser)
 gnomAD v4
14g.91273344C=CA2154902031CCDC88Cc.5368G= (p.Ala1790=)
c.924+16G= (n.924+16G=)
c.1596G=
c.5260G= (p.Ala1754=)
c.2449G= (p.Ala817=)
14g.91273344C>GCA390609804CCDC88Cc.5368G>C (p.Ala1790Pro)
c.924+16G>C (n.924+16G>C)
c.1596G>C
c.5260G>C (p.Ala1754Pro)
c.2449G>C (p.Ala817Pro)
14g.91273344C>TCA390609802CCDC88Cc.5368G>A (p.Ala1790Thr)
c.924+16G>A (n.924+16G>A)
c.1596G>A
c.5260G>A (p.Ala1754Thr)
c.2449G>A (p.Ala817Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.91273345T>ACA487829243CCDC88Cc.5367A>T (p.Pro1789=)
c.924+15A>T (n.924+15A>T)
c.1595A>T
c.5259A>T (p.Pro1753=)
c.2448A>T (p.Pro816=)
14g.91273345T>CCA487829245CCDC88Cc.5367A>G (p.Pro1789=)
c.924+15A>G (n.924+15A>G)
c.1595A>G
c.5259A>G (p.Pro1753=)
c.2448A>G (p.Pro816=)
 gnomAD v4
14g.91273345T>GCA487829244CCDC88Cc.5367A>C (p.Pro1789=)
c.924+15A>C (n.924+15A>C)
c.1595A>C
c.5259A>C (p.Pro1753=)
c.2448A>C (p.Pro816=)
14g.91273346G>ACA390609810CCDC88Cc.5366C>T (p.Pro1789Leu)
c.924+14C>T (n.924+14C>T)
c.1594C>T
c.5258C>T (p.Pro1753Leu)
c.2447C>T (p.Pro816Leu)
 gnomAD v4
14g.91273346G>CCA390609815CCDC88Cc.5366C>G (p.Pro1789Arg)
c.924+14C>G (n.924+14C>G)
c.1594C>G
c.5258C>G (p.Pro1753Arg)
c.2447C>G (p.Pro816Arg)
14g.91273346G>TCA390609812CCDC88Cc.5366C>A (p.Pro1789Gln)
c.924+14C>A (n.924+14C>A)
c.1594C>A
c.5258C>A (p.Pro1753Gln)
c.2447C>A (p.Pro816Gln)
 gnomAD v4
14g.91273350dupCA2626123417CCDC88Cc.5366dup (p.Ala1790SerfsTer22)
c.924+14dup (n.924+14dup)
c.1594dup
c.5258dup (p.Ala1754SerfsTer22)
c.2447dup (p.Ala817SerfsTer22)
 gnomAD v4
14g.91273350delCA2626123416CCDC88Cc.5366del (p.Pro1789GlnfsTer13)
c.924+14del (n.924+14del)
c.1594del
c.5258del (p.Pro1753GlnfsTer13)
c.2447del (p.Pro816GlnfsTer13)
 gnomAD v4
14g.91273347G>ACA390609819CCDC88Cc.5365C>T (p.Pro1789Ser)
c.924+13C>T (n.924+13C>T)
c.1593C>T
c.5257C>T (p.Pro1753Ser)
c.2446C>T (p.Pro816Ser)
 gnomAD v4
14g.91273347G>CCA390609823CCDC88Cc.5365C>G (p.Pro1789Ala)
c.924+13C>G (n.924+13C>G)
c.1593C>G
c.5257C>G (p.Pro1753Ala)
c.2446C>G (p.Pro816Ala)
14g.91273347G>TCA390609821CCDC88Cc.5365C>A (p.Pro1789Thr)
c.924+13C>A (n.924+13C>A)
c.1593C>A
c.5257C>A (p.Pro1753Thr)
c.2446C>A (p.Pro816Thr)
 gnomAD v4
14g.91273348G>ACA7308664CCDC88Cc.5364C>T (p.Pro1788=)
c.924+12C>T (n.924+12C>T)
c.1592C>T
c.5256C>T (p.Pro1752=)
c.2445C>T (p.Pro815=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273348G>CCA487829247CCDC88Cc.5364C>G (p.Pro1788=)
c.924+12C>G (n.924+12C>G)
c.1592C>G
c.5256C>G (p.Pro1752=)
c.2445C>G (p.Pro815=)
14g.91273348G=CA2154902034CCDC88Cc.5364C= (p.Pro1788=)
c.924+12C= (n.924+12C=)
c.1592C=
c.5256C= (p.Pro1752=)
c.2445C= (p.Pro815=)
14g.91273348G>TCA487829248CCDC88Cc.5364C>A (p.Pro1788=)
c.924+12C>A (n.924+12C>A)
c.1592C>A
c.5256C>A (p.Pro1752=)
c.2445C>A (p.Pro815=)
 gnomAD v4
14g.91273349G>ACA265518112CCDC88Cc.5363C>T (p.Pro1788Leu)
c.924+11C>T (n.924+11C>T)
c.1591C>T
c.5255C>T (p.Pro1752Leu)
c.2444C>T (p.Pro815Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.91273349G>CCA390609830CCDC88Cc.5363C>G (p.Pro1788Arg)
c.924+11C>G (n.924+11C>G)
c.1591C>G
c.5255C>G (p.Pro1752Arg)
c.2444C>G (p.Pro815Arg)
14g.91273349G=CA2154902037CCDC88Cc.5363C= (p.Pro1788=)
c.924+11C= (n.924+11C=)
c.1591C=
c.5255C= (p.Pro1752=)
c.2444C= (p.Pro815=)
14g.91273349G>TCA390609832CCDC88Cc.5363C>A (p.Pro1788His)
c.924+11C>A (n.924+11C>A)
c.1591C>A
c.5255C>A (p.Pro1752His)
c.2444C>A (p.Pro815His)
 gnomAD v4
14g.91273350G>ACA390609837CCDC88Cc.5362C>T (p.Pro1788Ser)
c.924+10C>T (n.924+10C>T)
c.1590C>T
c.5254C>T (p.Pro1752Ser)
c.2443C>T (p.Pro815Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.91273350G>CCA390609840CCDC88Cc.5362C>G (p.Pro1788Ala)
c.924+10C>G (n.924+10C>G)
c.1590C>G
c.5254C>G (p.Pro1752Ala)
c.2443C>G (p.Pro815Ala)
14g.91273350G=CA2154902040CCDC88Cc.5362C= (p.Pro1788=)
c.924+10C= (n.924+10C=)
c.1590C=
c.5254C= (p.Pro1752=)
c.2443C= (p.Pro815=)
14g.91273350G>TCA390609842CCDC88Cc.5362C>A (p.Pro1788Thr)
c.924+10C>A (n.924+10C>A)
c.1590C>A
c.5254C>A (p.Pro1752Thr)
c.2443C>A (p.Pro815Thr)
 gnomAD v4
14g.91273351C>ACA487829249CCDC88Cc.5361G>T (p.Val1787=)
c.924+9G>T (n.924+9G>T)
c.1589G>T
c.5253G>T (p.Val1751=)
c.2442G>T (p.Val814=)
 gnomAD v4
14g.91273351C>GCA487829250CCDC88Cc.5361G>C (p.Val1787=)
c.924+9G>C (n.924+9G>C)
c.1589G>C
c.5253G>C (p.Val1751=)
c.2442G>C (p.Val814=)
14g.91273351C>TCA487829251CCDC88Cc.5361G>A (p.Val1787=)
c.924+9G>A (n.924+9G>A)
c.1589G>A
c.5253G>A (p.Val1751=)
c.2442G>A (p.Val814=)
 gnomAD v4
14g.91273352A>CCA390609844CCDC88Cc.5360T>G (p.Val1787Gly)
c.924+8T>G (n.924+8T>G)
c.1588T>G
c.5252T>G (p.Val1751Gly)
c.2441T>G (p.Val814Gly)
14g.91273352A>GCA390609846CCDC88Cc.5360T>C (p.Val1787Ala)
c.924+8T>C (n.924+8T>C)
c.1588T>C
c.5252T>C (p.Val1751Ala)
c.2441T>C (p.Val814Ala)
14g.91273352A>TCA390609848CCDC88Cc.5360T>A (p.Val1787Glu)
c.924+8T>A (n.924+8T>A)
c.1588T>A
c.5252T>A (p.Val1751Glu)
c.2441T>A (p.Val814Glu)
 gnomAD v4
14g.91273352_91273362delinsACCGGAGCCTGCA2154902041CCDC88Cc.5350_5360delinsCAGGCTCCGGT (p.Gln1784=)
c.922_924+8delinsCAGGCTCCGGT
c.1578_1588delinsCAGGCTCCGGT
c.5242_5252delinsCAGGCTCCGGT (p.Gln1748=)
c.2431_2441delinsCAGGCTCCGGT (p.Gln811=)
14g.91273353C>ACA390609851CCDC88Cc.5359G>T (p.Val1787Leu)
c.924+7G>T (n.924+7G>T)
c.1587G>T
c.5251G>T (p.Val1751Leu)
c.2440G>T (p.Val814Leu)
 gnomAD v4
14g.91273353C=CA2154902047CCDC88Cc.5359G= (p.Val1787=)
c.924+7G= (n.924+7G=)
c.1587G=
c.5251G= (p.Val1751=)
c.2440G= (p.Val814=)
14g.91273353C>GCA390609854CCDC88Cc.5359G>C (p.Val1787Leu)
c.924+7G>C (n.924+7G>C)
c.1587G>C
c.5251G>C (p.Val1751Leu)
c.2440G>C (p.Val814Leu)
14g.91273353C>TCA7308665CCDC88Cc.5359G>A (p.Val1787Met)
c.924+7G>A (n.924+7G>A)
c.1587G>A
c.5251G>A (p.Val1751Met)
c.2440G>A (p.Val814Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273357_91273366delCA2154902045CCDC88Cc.5350_5359del (p.Gln1784CysfsTer15)
c.922_924+7del
c.1578_1587del
c.5242_5251del (p.Gln1748CysfsTer15)
c.2431_2440del (p.Gln811CysfsTer15)
 dbSNP
14g.91273354C>ACA7308667CCDC88Cc.5358G>T (p.Pro1786=)
c.924+6G>T (n.924+6G>T)
c.1586G>T
c.5250G>T (p.Pro1750=)
c.2439G>T (p.Pro813=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273354C=CA2154902056CCDC88Cc.5358G= (p.Pro1786=)
c.924+6G= (n.924+6G=)
c.1586G=
c.5250G= (p.Pro1750=)
c.2439G= (p.Pro813=)
14g.91273354C>GCA487829253CCDC88Cc.5358G>C (p.Pro1786=)
c.924+6G>C (n.924+6G>C)
c.1586G>C
c.5250G>C (p.Pro1750=)
c.2439G>C (p.Pro813=)
 gnomAD v4
14g.91273354C>TCA7308666CCDC88Cc.5358G>A (p.Pro1786=)
c.924+6G>A (n.924+6G>A)
c.1586G>A
c.5250G>A (p.Pro1750=)
c.2439G>A (p.Pro813=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273355G>ACA265518127CCDC88Cc.5357C>T (p.Pro1786Leu)
c.924+5C>T (n.924+5C>T)
c.1585C>T
c.5249C>T (p.Pro1750Leu)
c.2438C>T (p.Pro813Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273355G>CCA390609865CCDC88Cc.5357C>G (p.Pro1786Arg)
c.924+5C>G (n.924+5C>G)
c.1585C>G
c.5249C>G (p.Pro1750Arg)
c.2438C>G (p.Pro813Arg)
14g.91273355G=CA2154902058CCDC88Cc.5357C= (p.Pro1786=)
c.924+5C= (n.924+5C=)
c.1585C=
c.5249C= (p.Pro1750=)
c.2438C= (p.Pro813=)
14g.91273355G>TCA390609866CCDC88Cc.5357C>A (p.Pro1786Gln)
c.924+5C>A (n.924+5C>A)
c.1585C>A
c.5249C>A (p.Pro1750Gln)
c.2438C>A (p.Pro813Gln)
 gnomAD v4
14g.91273356G>ACA390609870CCDC88Cc.5356C>T (p.Pro1786Ser)
c.924+4C>T (n.924+4C>T)
c.1584C>T
c.5248C>T (p.Pro1750Ser)
c.2437C>T (p.Pro813Ser)
 gnomAD v4
14g.91273356G>CCA390609873CCDC88Cc.5356C>G (p.Pro1786Ala)
c.924+4C>G (n.924+4C>G)
c.1584C>G
c.5248C>G (p.Pro1750Ala)
c.2437C>G (p.Pro813Ala)
 dbSNP gnomAD v4
14g.91273356G=CA2154902061CCDC88Cc.5356C= (p.Pro1786=)
c.924+4C= (n.924+4C=)
c.1584C=
c.5248C= (p.Pro1750=)
c.2437C= (p.Pro813=)
14g.91273356G>TCA390609874CCDC88Cc.5356C>A (p.Pro1786Thr)
c.924+4C>A (n.924+4C>A)
c.1584C>A
c.5248C>A (p.Pro1750Thr)
c.2437C>A (p.Pro813Thr)
 gnomAD v4
14g.91273357A=CA2154902065CCDC88Cc.5355T= (p.Ala1785=)
c.924+3T= (n.924+3T=)
c.1583T=
c.5247T= (p.Ala1749=)
c.2436T= (p.Ala812=)
14g.91273357A>CCA487829254CCDC88Cc.5355T>G (p.Ala1785=)
c.924+3T>G (n.924+3T>G)
c.1583T>G
c.5247T>G (p.Ala1749=)
c.2436T>G (p.Ala812=)
 dbSNP
14g.91273357A>GCA487829255CCDC88Cc.5355T>C (p.Ala1785=)
c.924+3T>C (n.924+3T>C)
c.1583T>C
c.5247T>C (p.Ala1749=)
c.2436T>C (p.Ala812=)
 gnomAD v4
14g.91273357A>TCA487829256CCDC88Cc.5355T>A (p.Ala1785=)
c.924+3T>A (n.924+3T>A)
c.1583T>A
c.5247T>A (p.Ala1749=)
c.2436T>A (p.Ala812=)
14g.91273358G>ACA390609877CCDC88Cc.5354C>T (p.Ala1785Val)
c.924+2C>T (n.924+2C>T)
c.1582C>T
c.5246C>T (p.Ala1749Val)
c.2435C>T (p.Ala812Val)
 dbSNP gnomAD v3 gnomAD v4
14g.91273358G>CCA390609879CCDC88Cc.5354C>G (p.Ala1785Gly)
c.924+2C>G (n.924+2C>G)
c.1582C>G
c.5246C>G (p.Ala1749Gly)
c.2435C>G (p.Ala812Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.91273358G=CA2154902072CCDC88Cc.5354C= (p.Ala1785=)
c.924+2C= (n.924+2C=)
c.1582C=
c.5246C= (p.Ala1749=)
c.2435C= (p.Ala812=)
14g.91273358G>TCA390609881CCDC88Cc.5354C>A (p.Ala1785Asp)
c.924+2C>A (n.924+2C>A)
c.1582C>A
c.5246C>A (p.Ala1749Asp)
c.2435C>A (p.Ala812Asp)
 gnomAD v4
14g.91273359C>ACA390609884CCDC88Cc.5353G>T (p.Ala1785Ser)
c.924+1G>T (n.924+1G>T)
c.1581G>T
c.5245G>T (p.Ala1749Ser)
c.2434G>T (p.Ala812Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91273359C=CA2154902083CCDC88Cc.5353G= (p.Ala1785=)
c.924+1G= (n.924+1G=)
c.1581G=
c.5245G= (p.Ala1749=)
c.2434G= (p.Ala812=)
14g.91273359C>GCA390609886CCDC88Cc.5353G>C (p.Ala1785Pro)
c.924+1G>C (n.924+1G>C)
c.1581G>C
c.5245G>C (p.Ala1749Pro)
c.2434G>C (p.Ala812Pro)
14g.91273359C>TCA390609888CCDC88Cc.5353G>A (p.Ala1785Thr)
c.924+1G>A (n.924+1G>A)
c.1581G>A
c.5245G>A (p.Ala1749Thr)
c.2434G>A (p.Ala812Thr)
14g.91273360C>ACA390609894CCDC88Cc.5352G>T (p.Gln1784His)
c.924G>T (p.Gln308His)
c.1580G>T
c.5244G>T (p.Gln1748His)
c.2433G>T (p.Gln811His)
 gnomAD v4
14g.91273360C=CA2154902085CCDC88Cc.5352G= (p.Gln1784=)
c.924G= (p.Gln308=)
c.1580G=
c.5244G= (p.Gln1748=)
c.2433G= (p.Gln811=)
14g.91273360C>GCA390609892CCDC88Cc.5352G>C (p.Gln1784His)
c.924G>C (p.Gln308His)
c.1580G>C
c.5244G>C (p.Gln1748His)
c.2433G>C (p.Gln811His)
 gnomAD v4
14g.91273360C>TCA487829258CCDC88Cc.5352G>A (p.Gln1784=)
c.924G>A (p.Gln308=)
c.1580G>A
c.5244G>A (p.Gln1748=)
c.2433G>A (p.Gln811=)
 dbSNP gnomAD v2 gnomAD v4
14g.91273361T>ACA390609897CCDC88Cc.5351A>T (p.Gln1784Leu)
c.923A>T (p.Gln308Leu)
c.1579A>T
c.5243A>T (p.Gln1748Leu)
c.2432A>T (p.Gln811Leu)
14g.91273361T>CCA390609899CCDC88Cc.5351A>G (p.Gln1784Arg)
c.923A>G (p.Gln308Arg)
c.1579A>G
c.5243A>G (p.Gln1748Arg)
c.2432A>G (p.Gln811Arg)
14g.91273361T>GCA390609901CCDC88Cc.5351A>C (p.Gln1784Pro)
c.923A>C (p.Gln308Pro)
c.1579A>C
c.5243A>C (p.Gln1748Pro)
c.2432A>C (p.Gln811Pro)
14g.91273362G>ACA390609905CCDC88Cc.5350C>T (p.Gln1784Ter)
c.922C>T (p.Gln308Ter)
c.1578C>T
c.5242C>T (p.Gln1748Ter)
c.2431C>T (p.Gln811Ter)
 gnomAD v4
14g.91273362G>CCA390609907CCDC88Cc.5350C>G (p.Gln1784Glu)
c.922C>G (p.Gln308Glu)
c.1578C>G
c.5242C>G (p.Gln1748Glu)
c.2431C>G (p.Gln811Glu)
14g.91273362G>TCA390609909CCDC88Cc.5350C>A (p.Gln1784Lys)
c.922C>A (p.Gln308Lys)
c.1578C>A
c.5242C>A (p.Gln1748Lys)
c.2431C>A (p.Gln811Lys)
 gnomAD v4
14g.91273363C>ACA487829262CCDC88Cc.5349G>T (p.Arg1783=)
c.921G>T (p.Arg307=)
c.1577G>T
c.5241G>T (p.Arg1747=)
c.2430G>T (p.Arg810=)
 gnomAD v4
14g.91273363C=CA2154902087CCDC88Cc.5349G= (p.Arg1783=)
c.921G= (p.Arg307=)
c.1577G=
c.5241G= (p.Arg1747=)
c.2430G= (p.Arg810=)
14g.91273363C>GCA487829263CCDC88Cc.5349G>C (p.Arg1783=)
c.921G>C (p.Arg307=)
c.1577G>C
c.5241G>C (p.Arg1747=)
c.2430G>C (p.Arg810=)
 dbSNP gnomAD v2 gnomAD v4
14g.91273363C>TCA487829264CCDC88Cc.5349G>A (p.Arg1783=)
c.921G>A (p.Arg307=)
c.1577G>A
c.5241G>A (p.Arg1747=)
c.2430G>A (p.Arg810=)
 gnomAD v4
14g.91273364C>ACA265518143CCDC88Cc.5348G>T (p.Arg1783Leu)
c.920G>T (p.Arg307Leu)
c.1576G>T
c.5240G>T (p.Arg1747Leu)
c.2429G>T (p.Arg810Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273364C=CA2154902090CCDC88Cc.5348G= (p.Arg1783=)
c.920G= (p.Arg307=)
c.1576G=
c.5240G= (p.Arg1747=)
c.2429G= (p.Arg810=)
14g.91273364C>GCA390609911CCDC88Cc.5348G>C (p.Arg1783Pro)
c.920G>C (p.Arg307Pro)
c.1576G>C
c.5240G>C (p.Arg1747Pro)
c.2429G>C (p.Arg810Pro)
 gnomAD v4
14g.91273364C>TCA390609914CCDC88Cc.5348G>A (p.Arg1783Gln)
c.920G>A (p.Arg307Gln)
c.1576G>A
c.5240G>A (p.Arg1747Gln)
c.2429G>A (p.Arg810Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273365G>ACA390609919CCDC88Cc.5347C>T (p.Arg1783Trp)
c.919C>T (p.Arg307Trp)
c.1575C>T
c.5239C>T (p.Arg1747Trp)
c.2428C>T (p.Arg810Trp)
 dbSNP gnomAD v2 gnomAD v4
14g.91273365G>CCA390609921CCDC88Cc.5347C>G (p.Arg1783Gly)
c.919C>G (p.Arg307Gly)
c.1575C>G
c.5239C>G (p.Arg1747Gly)
c.2428C>G (p.Arg810Gly)
14g.91273365G=CA2154902094CCDC88Cc.5347C= (p.Arg1783=)
c.919C= (p.Arg307=)
c.1575C=
c.5239C= (p.Arg1747=)
c.2428C= (p.Arg810=)
14g.91273365G>TCA487829265CCDC88Cc.5347C>A (p.Arg1783=)
c.919C>A (p.Arg307=)
c.1575C>A
c.5239C>A (p.Arg1747=)
c.2428C>A (p.Arg810=)
 gnomAD v4
14g.91273368delCA2626123422CCDC88Cc.5347del (p.Arg1783GlyfsTer19)
c.919del (p.Arg307GlyfsTer7)
c.1575del
c.5239del (p.Arg1747GlyfsTer19)
c.2428del (p.Arg810GlyfsTer19)
 gnomAD v4
14g.91273366G>ACA487829271CCDC88Cc.5346C>T (p.Pro1782=)
c.918C>T (p.Pro306=)
c.1574C>T
c.5238C>T (p.Pro1746=)
c.2427C>T (p.Pro809=)
 gnomAD v4
14g.91273366G>CCA487829268CCDC88Cc.5346C>G (p.Pro1782=)
c.918C>G (p.Pro306=)
c.1574C>G
c.5238C>G (p.Pro1746=)
c.2427C>G (p.Pro809=)
 gnomAD v4
14g.91273366G>TCA487829269CCDC88Cc.5346C>A (p.Pro1782=)
c.918C>A (p.Pro306=)
c.1574C>A
c.5238C>A (p.Pro1746=)
c.2427C>A (p.Pro809=)
 gnomAD v4
14g.91273367G>ACA390609924CCDC88Cc.5345C>T (p.Pro1782Leu)
c.917C>T (p.Pro306Leu)
c.1573C>T
c.5237C>T (p.Pro1746Leu)
c.2426C>T (p.Pro809Leu)
14g.91273367G>CCA390609927CCDC88Cc.5345C>G (p.Pro1782Arg)
c.917C>G (p.Pro306Arg)
c.1573C>G
c.5237C>G (p.Pro1746Arg)
c.2426C>G (p.Pro809Arg)
14g.91273367G>TCA390609929CCDC88Cc.5345C>A (p.Pro1782His)
c.917C>A (p.Pro306His)
c.1573C>A
c.5237C>A (p.Pro1746His)
c.2426C>A (p.Pro809His)
 gnomAD v4
14g.91273368G>ACA7308669CCDC88Cc.5344C>T (p.Pro1782Ser)
c.916C>T (p.Pro306Ser)
c.1572C>T
c.5236C>T (p.Pro1746Ser)
c.2425C>T (p.Pro809Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273368G>CCA390609935CCDC88Cc.5344C>G (p.Pro1782Ala)
c.916C>G (p.Pro306Ala)
c.1572C>G
c.5236C>G (p.Pro1746Ala)
c.2425C>G (p.Pro809Ala)
14g.91273368G=CA2154902103CCDC88Cc.5344C= (p.Pro1782=)
c.916C= (p.Pro306=)
c.1572C=
c.5236C= (p.Pro1746=)
c.2425C= (p.Pro809=)
14g.91273368G>TCA7308668CCDC88Cc.5344C>A (p.Pro1782Thr)
c.916C>A (p.Pro306Thr)
c.1572C>A
c.5236C>A (p.Pro1746Thr)
c.2425C>A (p.Pro809Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273369delCA2626123423CCDC88Cc.5343del (p.Arg1781SerfsTer21)
c.915del (p.Arg305SerfsTer9)
c.1571del
c.5235del (p.Arg1745SerfsTer21)
c.2424del (p.Arg808SerfsTer21)
 gnomAD v4
14g.91273369T>ACA390609936CCDC88Cc.5343A>T (p.Arg1781Ser)
c.915A>T (p.Arg305Ser)
c.1571A>T
c.5235A>T (p.Arg1745Ser)
c.2424A>T (p.Arg808Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91273369T>CCA487829273CCDC88Cc.5343A>G (p.Arg1781=)
c.915A>G (p.Arg305=)
c.1571A>G
c.5235A>G (p.Arg1745=)
c.2424A>G (p.Arg808=)
14g.91273369T>GCA390609938CCDC88Cc.5343A>C (p.Arg1781Ser)
c.915A>C (p.Arg305Ser)
c.1571A>C
c.5235A>C (p.Arg1745Ser)
c.2424A>C (p.Arg808Ser)
 gnomAD v4
14g.91273369T=CA2154902111CCDC88Cc.5343A= (p.Arg1781=)
c.915A= (p.Arg305=)
c.1571A=
c.5235A= (p.Arg1745=)
c.2424A= (p.Arg808=)
14g.91273370C>ACA390609942CCDC88Cc.5342G>T (p.Arg1781Ile)
c.914G>T (p.Arg305Ile)
c.1570G>T
c.5234G>T (p.Arg1745Ile)
c.2423G>T (p.Arg808Ile)
14g.91273370C=CA2154902118CCDC88Cc.5342G= (p.Arg1781=)
c.914G= (p.Arg305=)
c.1570G=
c.5234G= (p.Arg1745=)
c.2423G= (p.Arg808=)
14g.91273370C>GCA265518163CCDC88Cc.5342G>C (p.Arg1781Thr)
c.914G>C (p.Arg305Thr)
c.1570G>C
c.5234G>C (p.Arg1745Thr)
c.2423G>C (p.Arg808Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273370C>TCA390609946CCDC88Cc.5342G>A (p.Arg1781Lys)
c.914G>A (p.Arg305Lys)
c.1570G>A
c.5234G>A (p.Arg1745Lys)
c.2423G>A (p.Arg808Lys)
14g.91273371T>ACA390609950CCDC88Cc.5341A>T (p.Arg1781Ter)
c.913A>T (p.Arg305Ter)
c.1569A>T
c.5233A>T (p.Arg1745Ter)
c.2422A>T (p.Arg808Ter)
14g.91273371T>CCA390609952CCDC88Cc.5341A>G (p.Arg1781Gly)
c.913A>G (p.Arg305Gly)
c.1569A>G
c.5233A>G (p.Arg1745Gly)
c.2422A>G (p.Arg808Gly)
 dbSNP gnomAD v4
14g.91273371T>GCA487829114CCDC88Cc.5341A>C (p.Arg1781=)
c.913A>C (p.Arg305=)
c.1569A>C
c.5233A>C (p.Arg1745=)
c.2422A>C (p.Arg808=)
14g.91273371T=CA2154902130CCDC88Cc.5341A= (p.Arg1781=)
c.913A= (p.Arg305=)
c.1569A=
c.5233A= (p.Arg1745=)
c.2422A= (p.Arg808=)
14g.91273372G>ACA487829119CCDC88Cc.5340C>T (p.Gly1780=)
c.912C>T (p.Gly304=)
c.1568C>T
c.5232C>T (p.Gly1744=)
c.2421C>T (p.Gly807=)
 gnomAD v4
14g.91273372G>CCA487829118CCDC88Cc.5340C>G (p.Gly1780=)
c.912C>G (p.Gly304=)
c.1568C>G
c.5232C>G (p.Gly1744=)
c.2421C>G (p.Gly807=)
14g.91273372G>TCA487829120CCDC88Cc.5340C>A (p.Gly1780=)
c.912C>A (p.Gly304=)
c.1568C>A
c.5232C>A (p.Gly1744=)
c.2421C>A (p.Gly807=)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273373C>ACA390609956CCDC88Cc.5339G>T (p.Gly1780Val)
c.911G>T (p.Gly304Val)
c.1567G>T
c.5231G>T (p.Gly1744Val)
c.2420G>T (p.Gly807Val)
 gnomAD v4
14g.91273373C>GCA390609958CCDC88Cc.5339G>C (p.Gly1780Ala)
c.911G>C (p.Gly304Ala)
c.1567G>C
c.5231G>C (p.Gly1744Ala)
c.2420G>C (p.Gly807Ala)
14g.91273373C>TCA390609961CCDC88Cc.5339G>A (p.Gly1780Asp)
c.911G>A (p.Gly304Asp)
c.1567G>A
c.5231G>A (p.Gly1744Asp)
c.2420G>A (p.Gly807Asp)
 gnomAD v4
14g.91273374C>ACA390609967CCDC88Cc.5338G>T (p.Gly1780Cys)
c.910G>T (p.Gly304Cys)
c.1566G>T
c.5230G>T (p.Gly1744Cys)
c.2419G>T (p.Gly807Cys)
 gnomAD v4
14g.91273374C>GCA390609965CCDC88Cc.5338G>C (p.Gly1780Arg)
c.910G>C (p.Gly304Arg)
c.1566G>C
c.5230G>C (p.Gly1744Arg)
c.2419G>C (p.Gly807Arg)
14g.91273374C>TCA390609963CCDC88Cc.5338G>A (p.Gly1780Ser)
c.910G>A (p.Gly304Ser)
c.1566G>A
c.5230G>A (p.Gly1744Ser)
c.2419G>A (p.Gly807Ser)
14g.91273375C>ACA487829122CCDC88Cc.5337G>T (p.Leu1779=)
c.909G>T (p.Leu303=)
c.1565G>T
c.5229G>T (p.Leu1743=)
c.2418G>T (p.Leu806=)
 dbSNP gnomAD v2 gnomAD v4
14g.91273375C=CA2154902146CCDC88Cc.5337G= (p.Leu1779=)
c.909G= (p.Leu303=)
c.1565G=
c.5229G= (p.Leu1743=)
c.2418G= (p.Leu806=)
14g.91273375C>GCA487829124CCDC88Cc.5337G>C (p.Leu1779=)
c.909G>C (p.Leu303=)
c.1565G>C
c.5229G>C (p.Leu1743=)
c.2418G>C (p.Leu806=)
14g.91273375C>TCA487829126CCDC88Cc.5337G>A (p.Leu1779=)
c.909G>A (p.Leu303=)
c.1565G>A
c.5229G>A (p.Leu1743=)
c.2418G>A (p.Leu806=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273375_91273377delinsCAGCA2154902149CCDC88Cc.5335_5337delinsCTG (p.Leu1779=)
c.907_909delinsCTG (p.Leu303=)
c.1563_1565delinsCTG
c.5227_5229delinsCTG (p.Leu1743=)
c.2416_2418delinsCTG (p.Leu806=)
14g.91273376A>CCA390609972CCDC88Cc.5336T>G (p.Leu1779Arg)
c.908T>G (p.Leu303Arg)
c.1564T>G
c.5228T>G (p.Leu1743Arg)
c.2417T>G (p.Leu806Arg)
 gnomAD v4
14g.91273376A>GCA390609974CCDC88Cc.5336T>C (p.Leu1779Pro)
c.908T>C (p.Leu303Pro)
c.1564T>C
c.5228T>C (p.Leu1743Pro)
c.2417T>C (p.Leu806Pro)
 gnomAD v4
14g.91273376A>TCA390609976CCDC88Cc.5336T>A (p.Leu1779Gln)
c.908T>A (p.Leu303Gln)
c.1564T>A
c.5228T>A (p.Leu1743Gln)
c.2417T>A (p.Leu806Gln)
14g.91273379_91273380delCA7308670CCDC88Cc.5335_5336del (p.Leu1779GlyfsTer?)
c.907_908del (p.Leu303GlyfsTer8)
c.1563_1564del
c.5227_5228del (p.Leu1743GlyfsTer?)
c.2416_2417del (p.Leu806GlyfsTer?)
 dbSNP ExAC gnomAD v2
14g.91273377G>ACA7308671CCDC88Cc.5335C>T (p.Leu1779=)
c.907C>T (p.Leu303=)
c.1563C>T
c.5227C>T (p.Leu1743=)
c.2416C>T (p.Leu806=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273377G>CCA390609982CCDC88Cc.5335C>G (p.Leu1779Val)
c.907C>G (p.Leu303Val)
c.1563C>G
c.5227C>G (p.Leu1743Val)
c.2416C>G (p.Leu806Val)
14g.91273377G=CA2154902153CCDC88Cc.5335C= (p.Leu1779=)
c.907C= (p.Leu303=)
c.1563C=
c.5227C= (p.Leu1743=)
c.2416C= (p.Leu806=)
14g.91273377G>TCA390609985CCDC88Cc.5335C>A (p.Leu1779Met)
c.907C>A (p.Leu303Met)
c.1563C>A
c.5227C>A (p.Leu1743Met)
c.2416C>A (p.Leu806Met)
 gnomAD v4
14g.91273378A>CCA487829131CCDC88Cc.5334T>G (p.Ser1778=)
c.906T>G (p.Ser302=)
c.1562T>G
c.5226T>G (p.Ser1742=)
c.2415T>G (p.Ser805=)
14g.91273378A>GCA487829132CCDC88Cc.5334T>C (p.Ser1778=)
c.906T>C (p.Ser302=)
c.1562T>C
c.5226T>C (p.Ser1742=)
c.2415T>C (p.Ser805=)
 ClinVar gnomAD v4
14g.91273378A>TCA487829134CCDC88Cc.5334T>A (p.Ser1778=)
c.906T>A (p.Ser302=)
c.1562T>A
c.5226T>A (p.Ser1742=)
c.2415T>A (p.Ser805=)
14g.91273379G>ACA390609989CCDC88Cc.5333C>T (p.Ser1778Phe)
c.905C>T (p.Ser302Phe)
c.1561C>T
c.5225C>T (p.Ser1742Phe)
c.2414C>T (p.Ser805Phe)
 gnomAD v4
14g.91273379G>CCA7308672CCDC88Cc.5333C>G (p.Ser1778Cys)
c.905C>G (p.Ser302Cys)
c.1561C>G
c.5225C>G (p.Ser1742Cys)
c.2414C>G (p.Ser805Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273379G=CA2154902162CCDC88Cc.5333C= (p.Ser1778=)
c.905C= (p.Ser302=)
c.1561C=
c.5225C= (p.Ser1742=)
c.2414C= (p.Ser805=)
14g.91273379G>TCA390609991CCDC88Cc.5333C>A (p.Ser1778Tyr)
c.905C>A (p.Ser302Tyr)
c.1561C>A
c.5225C>A (p.Ser1742Tyr)
c.2414C>A (p.Ser805Tyr)
14g.91273380A=CA2154902166CCDC88Cc.5332T= (p.Ser1778=)
c.904T= (p.Ser302=)
c.1560T=
c.5224T= (p.Ser1742=)
c.2413T= (p.Ser805=)
14g.91273380A>CCA390609997CCDC88Cc.5332T>G (p.Ser1778Ala)
c.904T>G (p.Ser302Ala)
c.1560T>G
c.5224T>G (p.Ser1742Ala)
c.2413T>G (p.Ser805Ala)
14g.91273380A>GCA7308673CCDC88Cc.5332T>C (p.Ser1778Pro)
c.904T>C (p.Ser302Pro)
c.1560T>C
c.5224T>C (p.Ser1742Pro)
c.2413T>C (p.Ser805Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273380A>TCA390609999CCDC88Cc.5332T>A (p.Ser1778Thr)
c.904T>A (p.Ser302Thr)
c.1560T>A
c.5224T>A (p.Ser1742Thr)
c.2413T>A (p.Ser805Thr)
14g.91273381C>ACA487829139CCDC88Cc.5331G>T (p.Leu1777=)
c.903G>T (p.Leu301=)
c.1559G>T
c.5223G>T (p.Leu1741=)
c.2412G>T (p.Leu804=)
 gnomAD v4
14g.91273381C=CA2154902176CCDC88Cc.5331G= (p.Leu1777=)
c.903G= (p.Leu301=)
c.1559G=
c.5223G= (p.Leu1741=)
c.2412G= (p.Leu804=)
14g.91273381C>GCA7308674CCDC88Cc.5331G>C (p.Leu1777=)
c.903G>C (p.Leu301=)
c.1559G>C
c.5223G>C (p.Leu1741=)
c.2412G>C (p.Leu804=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273381C>TCA487829141CCDC88Cc.5331G>A (p.Leu1777=)
c.903G>A (p.Leu301=)
c.1559G>A
c.5223G>A (p.Leu1741=)
c.2412G>A (p.Leu804=)
 ClinVar dbSNP gnomAD v4
14g.91273382A>CCA390610008CCDC88Cc.5330T>G (p.Leu1777Arg)
c.902T>G (p.Leu301Arg)
c.1558T>G
c.5222T>G (p.Leu1741Arg)
c.2411T>G (p.Leu804Arg)
14g.91273382A>GCA390610004CCDC88Cc.5330T>C (p.Leu1777Pro)
c.902T>C (p.Leu301Pro)
c.1558T>C
c.5222T>C (p.Leu1741Pro)
c.2411T>C (p.Leu804Pro)
 gnomAD v4
14g.91273382A>TCA390610006CCDC88Cc.5330T>A (p.Leu1777Gln)
c.902T>A (p.Leu301Gln)
c.1558T>A
c.5222T>A (p.Leu1741Gln)
c.2411T>A (p.Leu804Gln)
 gnomAD v4
14g.91273383G>ACA487829143CCDC88Cc.5329C>T (p.Leu1777=)
c.901C>T (p.Leu301=)
c.1557C>T
c.5221C>T (p.Leu1741=)
c.2410C>T (p.Leu804=)
14g.91273383G>CCA390610011CCDC88Cc.5329C>G (p.Leu1777Val)
c.901C>G (p.Leu301Val)
c.1557C>G
c.5221C>G (p.Leu1741Val)
c.2410C>G (p.Leu804Val)
14g.91273383G>TCA390610013CCDC88Cc.5329C>A (p.Leu1777Met)
c.901C>A (p.Leu301Met)
c.1557C>A
c.5221C>A (p.Leu1741Met)
c.2410C>A (p.Leu804Met)
 gnomAD v4
14g.91273384G>ACA487829144CCDC88Cc.5328C>T (p.Ser1776=)
c.900C>T (p.Ser300=)
c.1556C>T
c.5220C>T (p.Ser1740=)
c.2409C>T (p.Ser803=)
 gnomAD v4
14g.91273384G>CCA390610016CCDC88Cc.5328C>G (p.Ser1776Arg)
c.900C>G (p.Ser300Arg)
c.1556C>G
c.5220C>G (p.Ser1740Arg)
c.2409C>G (p.Ser803Arg)
14g.91273384G>TCA390610018CCDC88Cc.5328C>A (p.Ser1776Arg)
c.900C>A (p.Ser300Arg)
c.1556C>A
c.5220C>A (p.Ser1740Arg)
c.2409C>A (p.Ser803Arg)
 gnomAD v4
14g.91273385C>ACA390610022CCDC88Cc.5327G>T (p.Ser1776Ile)
c.899G>T (p.Ser300Ile)
c.1555G>T
c.5219G>T (p.Ser1740Ile)
c.2408G>T (p.Ser803Ile)
 gnomAD v4
14g.91273385C=CA2154902179CCDC88Cc.5327G= (p.Ser1776=)
c.899G= (p.Ser300=)
c.1555G=
c.5219G= (p.Ser1740=)
c.2408G= (p.Ser803=)
14g.91273385C>GCA390610024CCDC88Cc.5327G>C (p.Ser1776Thr)
c.899G>C (p.Ser300Thr)
c.1555G>C
c.5219G>C (p.Ser1740Thr)
c.2408G>C (p.Ser803Thr)
14g.91273385C>TCA7308675CCDC88Cc.5327G>A (p.Ser1776Asn)
c.899G>A (p.Ser300Asn)
c.1555G>A
c.5219G>A (p.Ser1740Asn)
c.2408G>A (p.Ser803Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273386T>ACA390610028CCDC88Cc.5326A>T (p.Ser1776Cys)
c.898A>T (p.Ser300Cys)
c.1554A>T
c.5218A>T (p.Ser1740Cys)
c.2407A>T (p.Ser803Cys)
 dbSNP gnomAD v3 gnomAD v4
14g.91273386T>CCA390610030CCDC88Cc.5326A>G (p.Ser1776Gly)
c.898A>G (p.Ser300Gly)
c.1554A>G
c.5218A>G (p.Ser1740Gly)
c.2407A>G (p.Ser803Gly)
14g.91273386T>GCA390610033CCDC88Cc.5326A>C (p.Ser1776Arg)
c.898A>C (p.Ser300Arg)
c.1554A>C
c.5218A>C (p.Ser1740Arg)
c.2407A>C (p.Ser803Arg)
14g.91273386T=CA2154902185CCDC88Cc.5326A= (p.Ser1776=)
c.898A= (p.Ser300=)
c.1554A=
c.5218A= (p.Ser1740=)
c.2407A= (p.Ser803=)
14g.91273387C>ACA390610036CCDC88Cc.5325G>T (p.Gln1775His)
c.897G>T (p.Gln299His)
c.1553G>T
c.5217G>T (p.Gln1739His)
c.2406G>T (p.Gln802His)
 gnomAD v4
14g.91273387C>GCA390610038CCDC88Cc.5325G>C (p.Gln1775His)
c.897G>C (p.Gln299His)
c.1553G>C
c.5217G>C (p.Gln1739His)
c.2406G>C (p.Gln802His)
14g.91273387C>TCA487829151CCDC88Cc.5325G>A (p.Gln1775=)
c.897G>A (p.Gln299=)
c.1553G>A
c.5217G>A (p.Gln1739=)
c.2406G>A (p.Gln802=)
 gnomAD v4
14g.91273392_91273422delCA2697554088CCDC88Cc.5295_5325del (p.Ser1765ArgfsTer27)
c.867_897del (p.Ser289ArgfsTer15)
c.1523_1553del
c.5187_5217del (p.Ser1729ArgfsTer27)
c.2376_2406del (p.Ser792ArgfsTer27)
 ClinVar
14g.91273388T>ACA390610041CCDC88Cc.5324A>T (p.Gln1775Leu)
c.896A>T (p.Gln299Leu)
c.1552A>T
c.5216A>T (p.Gln1739Leu)
c.2405A>T (p.Gln802Leu)
 COSMIC COSMIC COSMIC
14g.91273388T>CCA390610046CCDC88Cc.5324A>G (p.Gln1775Arg)
c.896A>G (p.Gln299Arg)
c.1552A>G
c.5216A>G (p.Gln1739Arg)
c.2405A>G (p.Gln802Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.91273388T>GCA390610044CCDC88Cc.5324A>C (p.Gln1775Pro)
c.896A>C (p.Gln299Pro)
c.1552A>C
c.5216A>C (p.Gln1739Pro)
c.2405A>C (p.Gln802Pro)
14g.91273388T=CA2154902198CCDC88Cc.5324A= (p.Gln1775=)
c.896A= (p.Gln299=)
c.1552A=
c.5216A= (p.Gln1739=)
c.2405A= (p.Gln802=)
14g.91273389G>ACA390610050CCDC88Cc.5323C>T (p.Gln1775Ter)
c.895C>T (p.Gln299Ter)
c.1551C>T
c.5215C>T (p.Gln1739Ter)
c.2404C>T (p.Gln802Ter)
 dbSNP gnomAD v4
14g.91273389G>CCA390610051CCDC88Cc.5323C>G (p.Gln1775Glu)
c.895C>G (p.Gln299Glu)
c.1551C>G
c.5215C>G (p.Gln1739Glu)
c.2404C>G (p.Gln802Glu)
14g.91273389G=CA2154902210CCDC88Cc.5323C= (p.Gln1775=)
c.895C= (p.Gln299=)
c.1551C=
c.5215C= (p.Gln1739=)
c.2404C= (p.Gln802=)
14g.91273389G>TCA390610053CCDC88Cc.5323C>A (p.Gln1775Lys)
c.895C>A (p.Gln299Lys)
c.1551C>A
c.5215C>A (p.Gln1739Lys)
c.2404C>A (p.Gln802Lys)
 gnomAD v4
14g.91273392delCA2626123426CCDC88Cc.5323del (p.Gln1775ArgfsTer27)
c.895del (p.Gln299ArgfsTer15)
c.1551del
c.5215del (p.Gln1739ArgfsTer27)
c.2404del (p.Gln802ArgfsTer27)
 gnomAD v4
14g.91273390G>ACA487829158CCDC88Cc.5322C>T (p.Pro1774=)
c.894C>T (p.Pro298=)
c.1550C>T
c.5214C>T (p.Pro1738=)
c.2403C>T (p.Pro801=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273390G>CCA487829160CCDC88Cc.5322C>G (p.Pro1774=)
c.894C>G (p.Pro298=)
c.1550C>G
c.5214C>G (p.Pro1738=)
c.2403C>G (p.Pro801=)
14g.91273390G=CA2154902212CCDC88Cc.5322C= (p.Pro1774=)
c.894C= (p.Pro298=)
c.1550C=
c.5214C= (p.Pro1738=)
c.2403C= (p.Pro801=)
14g.91273390G>TCA487829161CCDC88Cc.5322C>A (p.Pro1774=)
c.894C>A (p.Pro298=)
c.1550C>A
c.5214C>A (p.Pro1738=)
c.2403C>A (p.Pro801=)
 gnomAD v4
14g.91273391G>ACA390610057CCDC88Cc.5321C>T (p.Pro1774Leu)
c.893C>T (p.Pro298Leu)
c.1549C>T
c.5213C>T (p.Pro1738Leu)
c.2402C>T (p.Pro801Leu)
 gnomAD v4
14g.91273391G>CCA7308676CCDC88Cc.5321C>G (p.Pro1774Arg)
c.893C>G (p.Pro298Arg)
c.1549C>G
c.5213C>G (p.Pro1738Arg)
c.2402C>G (p.Pro801Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273391G=CA2154902218CCDC88Cc.5321C= (p.Pro1774=)
c.893C= (p.Pro298=)
c.1549C=
c.5213C= (p.Pro1738=)
c.2402C= (p.Pro801=)
14g.91273391G>TCA390610061CCDC88Cc.5321C>A (p.Pro1774His)
c.893C>A (p.Pro298His)
c.1549C>A
c.5213C>A (p.Pro1738His)
c.2402C>A (p.Pro801His)
 gnomAD v4
14g.91273392G>ACA390610065CCDC88Cc.5320C>T (p.Pro1774Ser)
c.892C>T (p.Pro298Ser)
c.1548C>T
c.5212C>T (p.Pro1738Ser)
c.2401C>T (p.Pro801Ser)
 gnomAD v4
14g.91273392G>CCA390610067CCDC88Cc.5320C>G (p.Pro1774Ala)
c.892C>G (p.Pro298Ala)
c.1548C>G
c.5212C>G (p.Pro1738Ala)
c.2401C>G (p.Pro801Ala)
 gnomAD v4
14g.91273392G>TCA390610069CCDC88Cc.5320C>A (p.Pro1774Thr)
c.892C>A (p.Pro298Thr)
c.1548C>A
c.5212C>A (p.Pro1738Thr)
c.2401C>A (p.Pro801Thr)
 gnomAD v4
14g.91273393A>CCA487829170CCDC88Cc.5319T>G (p.Pro1773=)
c.891T>G (p.Pro297=)
c.1547T>G
c.5211T>G (p.Pro1737=)
c.2400T>G (p.Pro800=)
14g.91273393A>GCA487829171CCDC88Cc.5319T>C (p.Pro1773=)
c.891T>C (p.Pro297=)
c.1547T>C
c.5211T>C (p.Pro1737=)
c.2400T>C (p.Pro800=)
 gnomAD v4
14g.91273393A>TCA487829169CCDC88Cc.5319T>A (p.Pro1773=)
c.891T>A (p.Pro297=)
c.1547T>A
c.5211T>A (p.Pro1737=)
c.2400T>A (p.Pro800=)
14g.91273394G>ACA390610073CCDC88Cc.5318C>T (p.Pro1773Leu)
c.890C>T (p.Pro297Leu)
c.1546C>T
c.5210C>T (p.Pro1737Leu)
c.2399C>T (p.Pro800Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91273394G>CCA390610075CCDC88Cc.5318C>G (p.Pro1773Arg)
c.890C>G (p.Pro297Arg)
c.1546C>G
c.5210C>G (p.Pro1737Arg)
c.2399C>G (p.Pro800Arg)
14g.91273394G=CA2154902224CCDC88Cc.5318C= (p.Pro1773=)
c.890C= (p.Pro297=)
c.1546C=
c.5210C= (p.Pro1737=)
c.2399C= (p.Pro800=)
14g.91273394G>TCA390610077CCDC88Cc.5318C>A (p.Pro1773His)
c.890C>A (p.Pro297His)
c.1546C>A
c.5210C>A (p.Pro1737His)
c.2399C>A (p.Pro800His)
 dbSNP gnomAD v2 gnomAD v4
14g.91273395G>ACA390610085CCDC88Cc.5317C>T (p.Pro1773Ser)
c.889C>T (p.Pro297Ser)
c.1545C>T
c.5209C>T (p.Pro1737Ser)
c.2398C>T (p.Pro800Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91273395G>CCA390610081CCDC88Cc.5317C>G (p.Pro1773Ala)
c.889C>G (p.Pro297Ala)
c.1545C>G
c.5209C>G (p.Pro1737Ala)
c.2398C>G (p.Pro800Ala)
 gnomAD v4
14g.91273395G=CA2154902227CCDC88Cc.5317C= (p.Pro1773=)
c.889C= (p.Pro297=)
c.1545C=
c.5209C= (p.Pro1737=)
c.2398C= (p.Pro800=)
14g.91273395G>TCA390610083CCDC88Cc.5317C>A (p.Pro1773Thr)
c.889C>A (p.Pro297Thr)
c.1545C>A
c.5209C>A (p.Pro1737Thr)
c.2398C>A (p.Pro800Thr)
 gnomAD v4
14g.91273396C>ACA390610087CCDC88Cc.5316G>T (p.Gln1772His)
c.888G>T (p.Gln296His)
c.1544G>T
c.5208G>T (p.Gln1736His)
c.2397G>T (p.Gln799His)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273396C>GCA390610090CCDC88Cc.5316G>C (p.Gln1772His)
c.888G>C (p.Gln296His)
c.1544G>C
c.5208G>C (p.Gln1736His)
c.2397G>C (p.Gln799His)
14g.91273396C>TCA487829175CCDC88Cc.5316G>A (p.Gln1772=)
c.888G>A (p.Gln296=)
c.1544G>A
c.5208G>A (p.Gln1736=)
c.2397G>A (p.Gln799=)
 gnomAD v4
14g.91273397T>ACA390610093CCDC88Cc.5315A>T (p.Gln1772Leu)
c.887A>T (p.Gln296Leu)
c.1543A>T
c.5207A>T (p.Gln1736Leu)
c.2396A>T (p.Gln799Leu)
14g.91273397T>CCA390610096CCDC88Cc.5315A>G (p.Gln1772Arg)
c.887A>G (p.Gln296Arg)
c.1543A>G
c.5207A>G (p.Gln1736Arg)
c.2396A>G (p.Gln799Arg)
 gnomAD v4
14g.91273397T>GCA390610098CCDC88Cc.5315A>C (p.Gln1772Pro)
c.887A>C (p.Gln296Pro)
c.1543A>C
c.5207A>C (p.Gln1736Pro)
c.2396A>C (p.Gln799Pro)
14g.91273398G>ACA390610102CCDC88Cc.5314C>T (p.Gln1772Ter)
c.886C>T (p.Gln296Ter)
c.1542C>T
c.5206C>T (p.Gln1736Ter)
c.2395C>T (p.Gln799Ter)
 gnomAD v4
14g.91273398G>CCA390610104CCDC88Cc.5314C>G (p.Gln1772Glu)
c.886C>G (p.Gln296Glu)
c.1542C>G
c.5206C>G (p.Gln1736Glu)
c.2395C>G (p.Gln799Glu)
14g.91273398G>TCA390610105CCDC88Cc.5314C>A (p.Gln1772Lys)
c.886C>A (p.Gln296Lys)
c.1542C>A
c.5206C>A (p.Gln1736Lys)
c.2395C>A (p.Gln799Lys)
 gnomAD v4
14g.91273399G>ACA487829184CCDC88Cc.5313C>T (p.Ala1771=)
c.885C>T (p.Ala295=)
c.1541C>T
c.5205C>T (p.Ala1735=)
c.2394C>T (p.Ala798=)
 gnomAD v4
14g.91273399G>CCA487829186CCDC88Cc.5313C>G (p.Ala1771=)
c.885C>G (p.Ala295=)
c.1541C>G
c.5205C>G (p.Ala1735=)
c.2394C>G (p.Ala798=)
14g.91273399G>TCA487829185CCDC88Cc.5313C>A (p.Ala1771=)
c.885C>A (p.Ala295=)
c.1541C>A
c.5205C>A (p.Ala1735=)
c.2394C>A (p.Ala798=)
 gnomAD v4
14g.91273400G>ACA390610109CCDC88Cc.5312C>T (p.Ala1771Val)
c.884C>T (p.Ala295Val)
c.1540C>T
c.5204C>T (p.Ala1735Val)
c.2393C>T (p.Ala798Val)
 gnomAD v4
14g.91273400G>CCA390610112CCDC88Cc.5312C>G (p.Ala1771Gly)
c.884C>G (p.Ala295Gly)
c.1540C>G
c.5204C>G (p.Ala1735Gly)
c.2393C>G (p.Ala798Gly)
14g.91273400G>TCA390610114CCDC88Cc.5312C>A (p.Ala1771Asp)
c.884C>A (p.Ala295Asp)
c.1540C>A
c.5204C>A (p.Ala1735Asp)
c.2393C>A (p.Ala798Asp)
 gnomAD v4
14g.91273401C>ACA390610121CCDC88Cc.5311G>T (p.Ala1771Ser)
c.883G>T (p.Ala295Ser)
c.1539G>T
c.5203G>T (p.Ala1735Ser)
c.2392G>T (p.Ala798Ser)
 gnomAD v4
14g.91273401C=CA2154902236CCDC88Cc.5311G= (p.Ala1771=)
c.883G= (p.Ala295=)
c.1539G=
c.5203G= (p.Ala1735=)
c.2392G= (p.Ala798=)
14g.91273401C>GCA390610119CCDC88Cc.5311G>C (p.Ala1771Pro)
c.883G>C (p.Ala295Pro)
c.1539G>C
c.5203G>C (p.Ala1735Pro)
c.2392G>C (p.Ala798Pro)
14g.91273401C>TCA265518236CCDC88Cc.5311G>A (p.Ala1771Thr)
c.883G>A (p.Ala295Thr)
c.1539G>A
c.5203G>A (p.Ala1735Thr)
c.2392G>A (p.Ala798Thr)
 dbSNP gnomAD v4
14g.91273402C>ACA390610124CCDC88Cc.5310G>T (p.Gln1770His)
c.882G>T (p.Gln294His)
c.1538G>T
c.5202G>T (p.Gln1734His)
c.2391G>T (p.Gln797His)
 gnomAD v4
14g.91273402C>GCA390610127CCDC88Cc.5310G>C (p.Gln1770His)
c.882G>C (p.Gln294His)
c.1538G>C
c.5202G>C (p.Gln1734His)
c.2391G>C (p.Gln797His)
14g.91273402C>TCA487829193CCDC88Cc.5310G>A (p.Gln1770=)
c.882G>A (p.Gln294=)
c.1538G>A
c.5202G>A (p.Gln1734=)
c.2391G>A (p.Gln797=)
 gnomAD v4
14g.91273402_91273403delinsCTCA2154902239CCDC88Cc.5309_5310delinsAG (p.Gln1770=)
c.881_882delinsAG (p.Gln294=)
c.1537_1538delinsAG
c.5201_5202delinsAG (p.Gln1734=)
c.2390_2391delinsAG (p.Gln797=)
14g.91273403delCA2154902243CCDC88Cc.5309del (p.Gln1770ArgfsTer?)
c.881del (p.Gln294ArgfsTer20)
c.1537del
c.5201del (p.Gln1734ArgfsTer?)
c.2390del (p.Gln797ArgfsTer?)
 dbSNP
14g.91273403T>ACA390610129CCDC88Cc.5309A>T (p.Gln1770Leu)
c.881A>T (p.Gln294Leu)
c.1537A>T
c.5201A>T (p.Gln1734Leu)
c.2390A>T (p.Gln797Leu)
14g.91273403T>CCA390610131CCDC88Cc.5309A>G (p.Gln1770Arg)
c.881A>G (p.Gln294Arg)
c.1537A>G
c.5201A>G (p.Gln1734Arg)
c.2390A>G (p.Gln797Arg)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273403T>GCA390610133CCDC88Cc.5309A>C (p.Gln1770Pro)
c.881A>C (p.Gln294Pro)
c.1537A>C
c.5201A>C (p.Gln1734Pro)
c.2390A>C (p.Gln797Pro)
14g.91273404G>ACA390610136CCDC88Cc.5308C>T (p.Gln1770Ter)
c.880C>T (p.Gln294Ter)
c.1536C>T
c.5200C>T (p.Gln1734Ter)
c.2389C>T (p.Gln797Ter)
 ClinVar gnomAD v4
14g.91273404G>CCA390610138CCDC88Cc.5308C>G (p.Gln1770Glu)
c.880C>G (p.Gln294Glu)
c.1536C>G
c.5200C>G (p.Gln1734Glu)
c.2389C>G (p.Gln797Glu)
14g.91273404G>TCA390610140CCDC88Cc.5308C>A (p.Gln1770Lys)
c.880C>A (p.Gln294Lys)
c.1536C>A
c.5200C>A (p.Gln1734Lys)
c.2389C>A (p.Gln797Lys)
14g.91273405T>ACA390610147CCDC88Cc.5307A>T (p.Arg1769Ser)
c.879A>T (p.Arg293Ser)
c.1535A>T
c.5199A>T (p.Arg1733Ser)
c.2388A>T (p.Arg796Ser)
14g.91273405T>CCA487829202CCDC88Cc.5307A>G (p.Arg1769=)
c.879A>G (p.Arg293=)
c.1535A>G
c.5199A>G (p.Arg1733=)
c.2388A>G (p.Arg796=)
 gnomAD v4
14g.91273405T>GCA390610144CCDC88Cc.5307A>C (p.Arg1769Ser)
c.879A>C (p.Arg293Ser)
c.1535A>C
c.5199A>C (p.Arg1733Ser)
c.2388A>C (p.Arg796Ser)
14g.91273406C>ACA390610149CCDC88Cc.5306G>T (p.Arg1769Ile)
c.878G>T (p.Arg293Ile)
c.1534G>T
c.5198G>T (p.Arg1733Ile)
c.2387G>T (p.Arg796Ile)
 gnomAD v4
14g.91273406C>GCA390610151CCDC88Cc.5306G>C (p.Arg1769Thr)
c.878G>C (p.Arg293Thr)
c.1534G>C
c.5198G>C (p.Arg1733Thr)
c.2387G>C (p.Arg796Thr)
14g.91273406C>TCA390610154CCDC88Cc.5306G>A (p.Arg1769Lys)
c.878G>A (p.Arg293Lys)
c.1534G>A
c.5198G>A (p.Arg1733Lys)
c.2387G>A (p.Arg796Lys)
 gnomAD v4
14g.91273407T>ACA390610158CCDC88Cc.5305A>T (p.Arg1769Ter)
c.877A>T (p.Arg293Ter)
c.1533A>T
c.5197A>T (p.Arg1733Ter)
c.2386A>T (p.Arg796Ter)
14g.91273407T>CCA390610160CCDC88Cc.5305A>G (p.Arg1769Gly)
c.877A>G (p.Arg293Gly)
c.1533A>G
c.5197A>G (p.Arg1733Gly)
c.2386A>G (p.Arg796Gly)
 gnomAD v4
14g.91273407T>GCA487829206CCDC88Cc.5305A>C (p.Arg1769=)
c.877A>C (p.Arg293=)
c.1533A>C
c.5197A>C (p.Arg1733=)
c.2386A>C (p.Arg796=)
14g.91273408C>ACA487829207CCDC88Cc.5304G>T (p.Pro1768=)
c.876G>T (p.Pro292=)
c.1532G>T
c.5196G>T (p.Pro1732=)
c.2385G>T (p.Pro795=)
 gnomAD v4
14g.91273408C=CA2154902245CCDC88Cc.5304G= (p.Pro1768=)
c.876G= (p.Pro292=)
c.1532G=
c.5196G= (p.Pro1732=)
c.2385G= (p.Pro795=)
14g.91273408C>GCA487829208CCDC88Cc.5304G>C (p.Pro1768=)
c.876G>C (p.Pro292=)
c.1532G>C
c.5196G>C (p.Pro1732=)
c.2385G>C (p.Pro795=)
14g.91273408C>TCA7308677CCDC88Cc.5304G>A (p.Pro1768=)
c.876G>A (p.Pro292=)
c.1532G>A
c.5196G>A (p.Pro1732=)
c.2385G>A (p.Pro795=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273409G>ACA7308678CCDC88Cc.5303C>T (p.Pro1768Leu)
c.875C>T (p.Pro292Leu)
c.1531C>T
c.5195C>T (p.Pro1732Leu)
c.2384C>T (p.Pro795Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273409G>CCA390610166CCDC88Cc.5303C>G (p.Pro1768Arg)
c.875C>G (p.Pro292Arg)
c.1531C>G
c.5195C>G (p.Pro1732Arg)
c.2384C>G (p.Pro795Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273409G=CA2154902249CCDC88Cc.5303C= (p.Pro1768=)
c.875C= (p.Pro292=)
c.1531C=
c.5195C= (p.Pro1732=)
c.2384C= (p.Pro795=)
14g.91273409G>TCA390610169CCDC88Cc.5303C>A (p.Pro1768Gln)
c.875C>A (p.Pro292Gln)
c.1531C>A
c.5195C>A (p.Pro1732Gln)
c.2384C>A (p.Pro795Gln)
 gnomAD v4
14g.91273412delCA2575602980CCDC88Cc.5303del (p.Pro1768ArgfsTer?)
c.875del (p.Pro292ArgfsTer22)
c.1531del
c.5195del (p.Pro1732ArgfsTer?)
c.2384del (p.Pro795ArgfsTer?)
 ClinVar gnomAD v4
14g.91273410G>ACA390610174CCDC88Cc.5302C>T (p.Pro1768Ser)
c.874C>T (p.Pro292Ser)
c.1530C>T
c.5194C>T (p.Pro1732Ser)
c.2383C>T (p.Pro795Ser)
14g.91273410G>CCA7308679CCDC88Cc.5302C>G (p.Pro1768Ala)
c.874C>G (p.Pro292Ala)
c.1530C>G
c.5194C>G (p.Pro1732Ala)
c.2383C>G (p.Pro795Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273410G=CA2154902254CCDC88Cc.5302C= (p.Pro1768=)
c.874C= (p.Pro292=)
c.1530C=
c.5194C= (p.Pro1732=)
c.2383C= (p.Pro795=)
14g.91273410G>TCA390610177CCDC88Cc.5302C>A (p.Pro1768Thr)
c.874C>A (p.Pro292Thr)
c.1530C>A
c.5194C>A (p.Pro1732Thr)
c.2383C>A (p.Pro795Thr)
14g.91273411G>ACA265518244CCDC88Cc.5301C>T (p.Ala1767=)
c.873C>T (p.Ala291=)
c.1529C>T
c.5193C>T (p.Ala1731=)
c.2382C>T (p.Ala794=)
 dbSNP gnomAD v4
14g.91273411G>CCA487829210CCDC88Cc.5301C>G (p.Ala1767=)
c.873C>G (p.Ala291=)
c.1529C>G
c.5193C>G (p.Ala1731=)
c.2382C>G (p.Ala794=)
14g.91273411G=CA2154902258CCDC88Cc.5301C= (p.Ala1767=)
c.873C= (p.Ala291=)
c.1529C=
c.5193C= (p.Ala1731=)
c.2382C= (p.Ala794=)
14g.91273411G>TCA487829212CCDC88Cc.5301C>A (p.Ala1767=)
c.873C>A (p.Ala291=)
c.1529C>A
c.5193C>A (p.Ala1731=)
c.2382C>A (p.Ala794=)
14g.91273412G>ACA390610180CCDC88Cc.5300C>T (p.Ala1767Val)
c.872C>T (p.Ala291Val)
c.1528C>T
c.5192C>T (p.Ala1731Val)
c.2381C>T (p.Ala794Val)
 gnomAD v4
14g.91273412G>CCA390610182CCDC88Cc.5300C>G (p.Ala1767Gly)
c.872C>G (p.Ala291Gly)
c.1528C>G
c.5192C>G (p.Ala1731Gly)
c.2381C>G (p.Ala794Gly)
 gnomAD v4
14g.91273412G>TCA390610185CCDC88Cc.5300C>A (p.Ala1767Asp)
c.872C>A (p.Ala291Asp)
c.1528C>A
c.5192C>A (p.Ala1731Asp)
c.2381C>A (p.Ala794Asp)
14g.91273413C>ACA390610188CCDC88Cc.5299G>T (p.Ala1767Ser)
c.871G>T (p.Ala291Ser)
c.1527G>T
c.5191G>T (p.Ala1731Ser)
c.2380G>T (p.Ala794Ser)
 gnomAD v4
14g.91273413C=CA2154902266CCDC88Cc.5299G= (p.Ala1767=)
c.871G= (p.Ala291=)
c.1527G=
c.5191G= (p.Ala1731=)
c.2380G= (p.Ala794=)
14g.91273413C>GCA390610190CCDC88Cc.5299G>C (p.Ala1767Pro)
c.871G>C (p.Ala291Pro)
c.1527G>C
c.5191G>C (p.Ala1731Pro)
c.2380G>C (p.Ala794Pro)
 dbSNP gnomAD v2 gnomAD v4
14g.91273413C>TCA390610192CCDC88Cc.5299G>A (p.Ala1767Thr)
c.871G>A (p.Ala291Thr)
c.1527G>A
c.5191G>A (p.Ala1731Thr)
c.2380G>A (p.Ala794Thr)
14g.91273414C>ACA487829217CCDC88Cc.5298G>T (p.Val1766=)
c.870G>T (p.Val290=)
c.1526G>T
c.5190G>T (p.Val1730=)
c.2379G>T (p.Val793=)
 gnomAD v4
14g.91273414C>GCA487829215CCDC88Cc.5298G>C (p.Val1766=)
c.870G>C (p.Val290=)
c.1526G>C
c.5190G>C (p.Val1730=)
c.2379G>C (p.Val793=)
14g.91273414C>TCA487829216CCDC88Cc.5298G>A (p.Val1766=)
c.870G>A (p.Val290=)
c.1526G>A
c.5190G>A (p.Val1730=)
c.2379G>A (p.Val793=)
14g.91273415A>CCA390610196CCDC88Cc.5297T>G (p.Val1766Gly)
c.869T>G (p.Val290Gly)
c.1525T>G
c.5189T>G (p.Val1730Gly)
c.2378T>G (p.Val793Gly)
14g.91273415A>GCA390610198CCDC88Cc.5297T>C (p.Val1766Ala)
c.869T>C (p.Val290Ala)
c.1525T>C
c.5189T>C (p.Val1730Ala)
c.2378T>C (p.Val793Ala)
14g.91273415A>TCA390610200CCDC88Cc.5297T>A (p.Val1766Glu)
c.869T>A (p.Val290Glu)
c.1525T>A
c.5189T>A (p.Val1730Glu)
c.2378T>A (p.Val793Glu)
14g.91273416C>ACA390610202CCDC88Cc.5296G>T (p.Val1766Leu)
c.868G>T (p.Val290Leu)
c.1524G>T
c.5188G>T (p.Val1730Leu)
c.2377G>T (p.Val793Leu)
 gnomAD v4
14g.91273416C=CA2154902274CCDC88Cc.5296G= (p.Val1766=)
c.868G= (p.Val290=)
c.1524G=
c.5188G= (p.Val1730=)
c.2377G= (p.Val793=)
14g.91273416C>GCA390610204CCDC88Cc.5296G>C (p.Val1766Leu)
c.868G>C (p.Val290Leu)
c.1524G>C
c.5188G>C (p.Val1730Leu)
c.2377G>C (p.Val793Leu)
14g.91273416C>TCA7308680CCDC88Cc.5296G>A (p.Val1766Met)
c.868G>A (p.Val290Met)
c.1524G>A
c.5188G>A (p.Val1730Met)
c.2377G>A (p.Val793Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273417G>ACA7308681CCDC88Cc.5295C>T (p.Ser1765=)
c.867C>T (p.Ser289=)
c.1523C>T
c.5187C>T (p.Ser1729=)
c.2376C>T (p.Ser792=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273417G>CCA390610208CCDC88Cc.5295C>G (p.Ser1765Arg)
c.867C>G (p.Ser289Arg)
c.1523C>G
c.5187C>G (p.Ser1729Arg)
c.2376C>G (p.Ser792Arg)
14g.91273417G=CA2154902283CCDC88Cc.5295C= (p.Ser1765=)
c.867C= (p.Ser289=)
c.1523C=
c.5187C= (p.Ser1729=)
c.2376C= (p.Ser792=)
14g.91273417G>TCA390610211CCDC88Cc.5295C>A (p.Ser1765Arg)
c.867C>A (p.Ser289Arg)
c.1523C>A
c.5187C>A (p.Ser1729Arg)
c.2376C>A (p.Ser792Arg)
 gnomAD v4
14g.91273418C>ACA390610214CCDC88Cc.5294G>T (p.Ser1765Ile)
c.866G>T (p.Ser289Ile)
c.1522G>T
c.5186G>T (p.Ser1729Ile)
c.2375G>T (p.Ser792Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273418C=CA2154902288CCDC88Cc.5294G= (p.Ser1765=)
c.866G= (p.Ser289=)
c.1522G=
c.5186G= (p.Ser1729=)
c.2375G= (p.Ser792=)
14g.91273418C>GCA390610217CCDC88Cc.5294G>C (p.Ser1765Thr)
c.866G>C (p.Ser289Thr)
c.1522G>C
c.5186G>C (p.Ser1729Thr)
c.2375G>C (p.Ser792Thr)
 ClinVar
14g.91273418C>TCA390610219CCDC88Cc.5294G>A (p.Ser1765Asn)
c.866G>A (p.Ser289Asn)
c.1522G>A
c.5186G>A (p.Ser1729Asn)
c.2375G>A (p.Ser792Asn)
 dbSNP gnomAD v2 gnomAD v4
14g.91273419T>ACA390610222CCDC88Cc.5293A>T (p.Ser1765Cys)
c.865A>T (p.Ser289Cys)
c.1521A>T
c.5185A>T (p.Ser1729Cys)
c.2374A>T (p.Ser792Cys)
14g.91273419T>CCA265518274CCDC88Cc.5293A>G (p.Ser1765Gly)
c.865A>G (p.Ser289Gly)
c.1521A>G
c.5185A>G (p.Ser1729Gly)
c.2374A>G (p.Ser792Gly)
 dbSNP gnomAD v4
14g.91273419T>GCA390610226CCDC88Cc.5293A>C (p.Ser1765Arg)
c.865A>C (p.Ser289Arg)
c.1521A>C
c.5185A>C (p.Ser1729Arg)
c.2374A>C (p.Ser792Arg)
14g.91273419T=CA2154902298CCDC88Cc.5293A= (p.Ser1765=)
c.865A= (p.Ser289=)
c.1521A=
c.5185A= (p.Ser1729=)
c.2374A= (p.Ser792=)
14g.91273420G>ACA487829227CCDC88Cc.5292C>T (p.Pro1764=)
c.864C>T (p.Pro288=)
c.1520C>T
c.5184C>T (p.Pro1728=)
c.2373C>T (p.Pro791=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273420G>CCA487829228CCDC88Cc.5292C>G (p.Pro1764=)
c.864C>G (p.Pro288=)
c.1520C>G
c.5184C>G (p.Pro1728=)
c.2373C>G (p.Pro791=)
14g.91273420G=CA2154902305CCDC88Cc.5292C= (p.Pro1764=)
c.864C= (p.Pro288=)
c.1520C=
c.5184C= (p.Pro1728=)
c.2373C= (p.Pro791=)
14g.91273420G>TCA487829229CCDC88Cc.5292C>A (p.Pro1764=)
c.864C>A (p.Pro288=)
c.1520C>A
c.5184C>A (p.Pro1728=)
c.2373C>A (p.Pro791=)
 gnomAD v4
14g.91273421G>ACA7308682CCDC88Cc.5291C>T (p.Pro1764Leu)
c.863C>T (p.Pro288Leu)
c.1519C>T
c.5183C>T (p.Pro1728Leu)
c.2372C>T (p.Pro791Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273421G>CCA390610231CCDC88Cc.5291C>G (p.Pro1764Arg)
c.863C>G (p.Pro288Arg)
c.1519C>G
c.5183C>G (p.Pro1728Arg)
c.2372C>G (p.Pro791Arg)
 gnomAD v4
14g.91273421G=CA2154902313CCDC88Cc.5291C= (p.Pro1764=)
c.863C= (p.Pro288=)
c.1519C=
c.5183C= (p.Pro1728=)
c.2372C= (p.Pro791=)
14g.91273421G>TCA390610233CCDC88Cc.5291C>A (p.Pro1764His)
c.863C>A (p.Pro288His)
c.1519C>A
c.5183C>A (p.Pro1728His)
c.2372C>A (p.Pro791His)
 gnomAD v4
14g.91273422G>ACA390610241CCDC88Cc.5290C>T (p.Pro1764Ser)
c.862C>T (p.Pro288Ser)
c.1518C>T
c.5182C>T (p.Pro1728Ser)
c.2371C>T (p.Pro791Ser)
 gnomAD v4
14g.91273422G>CCA390610237CCDC88Cc.5290C>G (p.Pro1764Ala)
c.862C>G (p.Pro288Ala)
c.1518C>G
c.5182C>G (p.Pro1728Ala)
c.2371C>G (p.Pro791Ala)
 gnomAD v4
14g.91273422G=CA2154902319CCDC88Cc.5290C= (p.Pro1764=)
c.862C= (p.Pro288=)
c.1518C=
c.5182C= (p.Pro1728=)
c.2371C= (p.Pro791=)
14g.91273422G>TCA7308683CCDC88Cc.5290C>A (p.Pro1764Thr)
c.862C>A (p.Pro288Thr)
c.1518C>A
c.5182C>A (p.Pro1728Thr)
c.2371C>A (p.Pro791Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273423T>ACA487829231CCDC88Cc.5289A>T (p.Pro1763=)
c.861A>T (p.Pro287=)
c.1517A>T
c.5181A>T (p.Pro1727=)
c.2370A>T (p.Pro790=)
14g.91273423T>CCA487829232CCDC88Cc.5289A>G (p.Pro1763=)
c.861A>G (p.Pro287=)
c.1517A>G
c.5181A>G (p.Pro1727=)
c.2370A>G (p.Pro790=)
 gnomAD v4
14g.91273423T>GCA487829233CCDC88Cc.5289A>C (p.Pro1763=)
c.861A>C (p.Pro287=)
c.1517A>C
c.5181A>C (p.Pro1727=)
c.2370A>C (p.Pro790=)
14g.91273424G>ACA390610245CCDC88Cc.5288C>T (p.Pro1763Leu)
c.860C>T (p.Pro287Leu)
c.1516C>T
c.5180C>T (p.Pro1727Leu)
c.2369C>T (p.Pro790Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.91273424G>CCA390610246CCDC88Cc.5288C>G (p.Pro1763Arg)
c.860C>G (p.Pro287Arg)
c.1516C>G
c.5180C>G (p.Pro1727Arg)
c.2369C>G (p.Pro790Arg)
14g.91273424G=CA2154902325CCDC88Cc.5288C= (p.Pro1763=)
c.860C= (p.Pro287=)
c.1516C=
c.5180C= (p.Pro1727=)
c.2369C= (p.Pro790=)
14g.91273424G>TCA390610249CCDC88Cc.5288C>A (p.Pro1763Gln)
c.860C>A (p.Pro287Gln)
c.1516C>A
c.5180C>A (p.Pro1727Gln)
c.2369C>A (p.Pro790Gln)
 gnomAD v4
14g.91273427delCA2626123428CCDC88Cc.5288del (p.Pro1763HisfsTer?)
c.860del (p.Pro287HisfsTer27)
c.1516del
c.5180del (p.Pro1727HisfsTer?)
c.2369del (p.Pro790HisfsTer?)
 gnomAD v4
14g.91273425G>ACA390610253CCDC88Cc.5287C>T (p.Pro1763Ser)
c.859C>T (p.Pro287Ser)
c.1515C>T
c.5179C>T (p.Pro1727Ser)
c.2368C>T (p.Pro790Ser)
 dbSNP gnomAD v4
14g.91273425G>CCA390610254CCDC88Cc.5287C>G (p.Pro1763Ala)
c.859C>G (p.Pro287Ala)
c.1515C>G
c.5179C>G (p.Pro1727Ala)
c.2368C>G (p.Pro790Ala)
 dbSNP gnomAD v2 gnomAD v4
14g.91273425G=CA2154902331CCDC88Cc.5287C= (p.Pro1763=)
c.859C= (p.Pro287=)
c.1515C=
c.5179C= (p.Pro1727=)
c.2368C= (p.Pro790=)
14g.91273425G>TCA390610256CCDC88Cc.5287C>A (p.Pro1763Thr)
c.859C>A (p.Pro287Thr)
c.1515C>A
c.5179C>A (p.Pro1727Thr)
c.2368C>A (p.Pro790Thr)
 gnomAD v4
14g.91273426G>ACA487829238CCDC88Cc.5286C>T (p.Ala1762=)
c.858C>T (p.Ala286=)
c.1514C>T
c.5178C>T (p.Ala1726=)
c.2367C>T (p.Ala789=)
 gnomAD v4
14g.91273426G>CCA487829240CCDC88Cc.5286C>G (p.Ala1762=)
c.858C>G (p.Ala286=)
c.1514C>G
c.5178C>G (p.Ala1726=)
c.2367C>G (p.Ala789=)
14g.91273426G>TCA487829242CCDC88Cc.5286C>A (p.Ala1762=)
c.858C>A (p.Ala286=)
c.1514C>A
c.5178C>A (p.Ala1726=)
c.2367C>A (p.Ala789=)
 gnomAD v4
14g.91273427G>ACA390610259CCDC88Cc.5285C>T (p.Ala1762Val)
c.857C>T (p.Ala286Val)
c.1513C>T
c.5177C>T (p.Ala1726Val)
c.2366C>T (p.Ala789Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273427G>CCA390610261CCDC88Cc.5285C>G (p.Ala1762Gly)
c.857C>G (p.Ala286Gly)
c.1513C>G
c.5177C>G (p.Ala1726Gly)
c.2366C>G (p.Ala789Gly)
14g.91273427G=CA2154902336CCDC88Cc.5285C= (p.Ala1762=)
c.857C= (p.Ala286=)
c.1513C=
c.5177C= (p.Ala1726=)
c.2366C= (p.Ala789=)
14g.91273427G>TCA390610263CCDC88Cc.5285C>A (p.Ala1762Asp)
c.857C>A (p.Ala286Asp)
c.1513C>A
c.5177C>A (p.Ala1726Asp)
c.2366C>A (p.Ala789Asp)
 gnomAD v4
14g.91273428C>ACA390610267CCDC88Cc.5284G>T (p.Ala1762Ser)
c.856G>T (p.Ala286Ser)
c.1512G>T
c.5176G>T (p.Ala1726Ser)
c.2365G>T (p.Ala789Ser)
 gnomAD v4
14g.91273428C=CA2154902342CCDC88Cc.5284G= (p.Ala1762=)
c.856G= (p.Ala286=)
c.1512G=
c.5176G= (p.Ala1726=)
c.2365G= (p.Ala789=)
14g.91273428C>GCA390610269CCDC88Cc.5284G>C (p.Ala1762Pro)
c.856G>C (p.Ala286Pro)
c.1512G>C
c.5176G>C (p.Ala1726Pro)
c.2365G>C (p.Ala789Pro)
14g.91273428C>TCA7308684CCDC88Cc.5284G>A (p.Ala1762Thr)
c.856G>A (p.Ala286Thr)
c.1512G>A
c.5176G>A (p.Ala1726Thr)
c.2365G>A (p.Ala789Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273429C>ACA390610274CCDC88Cc.5283G>T (p.Glu1761Asp)
c.855G>T (p.Glu285Asp)
c.1511G>T
c.5175G>T (p.Glu1725Asp)
c.2364G>T (p.Glu788Asp)
 gnomAD v4
14g.91273429C>GCA390610276CCDC88Cc.5283G>C (p.Glu1761Asp)
c.855G>C (p.Glu285Asp)
c.1511G>C
c.5175G>C (p.Glu1725Asp)
c.2364G>C (p.Glu788Asp)
14g.91273429C>TCA487829246CCDC88Cc.5283G>A (p.Glu1761=)
c.855G>A (p.Glu285=)
c.1511G>A
c.5175G>A (p.Glu1725=)
c.2364G>A (p.Glu788=)
14g.91273430T>ACA390610279CCDC88Cc.5282A>T (p.Glu1761Val)
c.854A>T (p.Glu285Val)
c.1510A>T
c.5174A>T (p.Glu1725Val)
c.2363A>T (p.Glu788Val)
14g.91273430T>CCA390610283CCDC88Cc.5282A>G (p.Glu1761Gly)
c.854A>G (p.Glu285Gly)
c.1510A>G
c.5174A>G (p.Glu1725Gly)
c.2363A>G (p.Glu788Gly)
 gnomAD v4
14g.91273430T>GCA390610281CCDC88Cc.5282A>C (p.Glu1761Ala)
c.854A>C (p.Glu285Ala)
c.1510A>C
c.5174A>C (p.Glu1725Ala)
c.2363A>C (p.Glu788Ala)
14g.91273431C>ACA390610286CCDC88Cc.5281G>T (p.Glu1761Ter)
c.853G>T (p.Glu285Ter)
c.1509G>T
c.5173G>T (p.Glu1725Ter)
c.2362G>T (p.Glu788Ter)
 gnomAD v4
14g.91273431C=CA2154902348CCDC88Cc.5281G= (p.Glu1761=)
c.853G= (p.Glu285=)
c.1509G=
c.5173G= (p.Glu1725=)
c.2362G= (p.Glu788=)
14g.91273431C>GCA390610289CCDC88Cc.5281G>C (p.Glu1761Gln)
c.853G>C (p.Glu285Gln)
c.1509G>C
c.5173G>C (p.Glu1725Gln)
c.2362G>C (p.Glu788Gln)
14g.91273431C>TCA7308685CCDC88Cc.5281G>A (p.Glu1761Lys)
c.853G>A (p.Glu285Lys)
c.1509G>A
c.5173G>A (p.Glu1725Lys)
c.2362G>A (p.Glu788Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273432G>ACA7308686CCDC88Cc.5280C>T (p.Ala1760=)
c.852C>T (p.Ala284=)
c.1508C>T
c.5172C>T (p.Ala1724=)
c.2361C>T (p.Ala787=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273432G>CCA7308687CCDC88Cc.5280C>G (p.Ala1760=)
c.852C>G (p.Ala284=)
c.1508C>G
c.5172C>G (p.Ala1724=)
c.2361C>G (p.Ala787=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273432G=CA2154902351CCDC88Cc.5280C= (p.Ala1760=)
c.852C= (p.Ala284=)
c.1508C=
c.5172C= (p.Ala1724=)
c.2361C= (p.Ala787=)
14g.91273432G>TCA487829252CCDC88Cc.5280C>A (p.Ala1760=)
c.852C>A (p.Ala284=)
c.1508C>A
c.5172C>A (p.Ala1724=)
c.2361C>A (p.Ala787=)
 gnomAD v4
14g.91273433G>ACA390610298CCDC88Cc.5279C>T (p.Ala1760Val)
c.851C>T (p.Ala284Val)
c.1507C>T
c.5171C>T (p.Ala1724Val)
c.2360C>T (p.Ala787Val)
 gnomAD v4
14g.91273433G>CCA390610301CCDC88Cc.5279C>G (p.Ala1760Gly)
c.851C>G (p.Ala284Gly)
c.1507C>G
c.5171C>G (p.Ala1724Gly)
c.2360C>G (p.Ala787Gly)
14g.91273433G>TCA390610303CCDC88Cc.5279C>A (p.Ala1760Asp)
c.851C>A (p.Ala284Asp)
c.1507C>A
c.5171C>A (p.Ala1724Asp)
c.2360C>A (p.Ala787Asp)
14g.91273434C>ACA390610307CCDC88Cc.5278G>T (p.Ala1760Ser)
c.850G>T (p.Ala284Ser)
c.1506G>T
c.5170G>T (p.Ala1724Ser)
c.2359G>T (p.Ala787Ser)
 gnomAD v4
14g.91273434C=CA2154902356CCDC88Cc.5278G= (p.Ala1760=)
c.850G= (p.Ala284=)
c.1506G=
c.5170G= (p.Ala1724=)
c.2359G= (p.Ala787=)
14g.91273434C>GCA390610309CCDC88Cc.5278G>C (p.Ala1760Pro)
c.850G>C (p.Ala284Pro)
c.1506G>C
c.5170G>C (p.Ala1724Pro)
c.2359G>C (p.Ala787Pro)
14g.91273434C>TCA390610311CCDC88Cc.5278G>A (p.Ala1760Thr)
c.850G>A (p.Ala284Thr)
c.1506G>A
c.5170G>A (p.Ala1724Thr)
c.2359G>A (p.Ala787Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.91273435C>ACA390610314CCDC88Cc.5277G>T (p.Glu1759Asp)
c.849G>T (p.Glu283Asp)
c.1505G>T
c.5169G>T (p.Glu1723Asp)
c.2358G>T (p.Glu786Asp)
 gnomAD v4
14g.91273435C=CA2154902360CCDC88Cc.5277G= (p.Glu1759=)
c.849G= (p.Glu283=)
c.1505G=
c.5169G= (p.Glu1723=)
c.2358G= (p.Glu786=)
14g.91273435C>GCA390610316CCDC88Cc.5277G>C (p.Glu1759Asp)
c.849G>C (p.Glu283Asp)
c.1505G>C
c.5169G>C (p.Glu1723Asp)
c.2358G>C (p.Glu786Asp)
 gnomAD v4
14g.91273435C>TCA265518321CCDC88Cc.5277G>A (p.Glu1759=)
c.849G>A (p.Glu283=)
c.1505G>A
c.5169G>A (p.Glu1723=)
c.2358G>A (p.Glu786=)
 dbSNP
14g.91273435_91273439delinsCTCAGCA2154902361CCDC88Cc.5273_5277delinsCTGAG (p.Thr1758=)
c.845_849delinsCTGAG (p.Thr282=)
c.1501_1505delinsCTGAG
c.5165_5169delinsCTGAG (p.Thr1722=)
c.2354_2358delinsCTGAG (p.Thr785=)
14g.91273436T>ACA390610318CCDC88Cc.5276A>T (p.Glu1759Val)
c.848A>T (p.Glu283Val)
c.1504A>T
c.5168A>T (p.Glu1723Val)
c.2357A>T (p.Glu786Val)
14g.91273436T>CCA390610322CCDC88Cc.5276A>G (p.Glu1759Gly)
c.848A>G (p.Glu283Gly)
c.1504A>G
c.5168A>G (p.Glu1723Gly)
c.2357A>G (p.Glu786Gly)
 gnomAD v4
14g.91273436T>GCA390610320CCDC88Cc.5276A>C (p.Glu1759Ala)
c.848A>C (p.Glu283Ala)
c.1504A>C
c.5168A>C (p.Glu1723Ala)
c.2357A>C (p.Glu786Ala)
14g.91273442_91273445delCA487829257CCDC88Cc.5273_5276del (p.Thr1758ArgfsTer?)
c.845_848del (p.Thr282ArgfsTer?)
c.1501_1504del
c.5165_5168del (p.Thr1722ArgfsTer?)
c.2354_2357del (p.Thr785ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273437C>ACA390610326CCDC88Cc.5275G>T (p.Glu1759Ter)
c.847G>T (p.Glu283Ter)
c.1503G>T
c.5167G>T (p.Glu1723Ter)
c.2356G>T (p.Glu786Ter)
 gnomAD v4
14g.91273437C>GCA390610328CCDC88Cc.5275G>C (p.Glu1759Gln)
c.847G>C (p.Glu283Gln)
c.1503G>C
c.5167G>C (p.Glu1723Gln)
c.2356G>C (p.Glu786Gln)
14g.91273437C>TCA390610330CCDC88Cc.5275G>A (p.Glu1759Lys)
c.847G>A (p.Glu283Lys)
c.1503G>A
c.5167G>A (p.Glu1723Lys)
c.2356G>A (p.Glu786Lys)
 gnomAD v4
14g.91273438A>CCA487829261CCDC88Cc.5274T>G (p.Thr1758=)
c.846T>G (p.Thr282=)
c.1502T>G
c.5166T>G (p.Thr1722=)
c.2355T>G (p.Thr785=)
14g.91273438A>GCA487829260CCDC88Cc.5274T>C (p.Thr1758=)
c.846T>C (p.Thr282=)
c.1502T>C
c.5166T>C (p.Thr1722=)
c.2355T>C (p.Thr785=)
 gnomAD v4
14g.91273438A>TCA487829259CCDC88Cc.5274T>A (p.Thr1758=)
c.846T>A (p.Thr282=)
c.1502T>A
c.5166T>A (p.Thr1722=)
c.2355T>A (p.Thr785=)
14g.91273439G>ACA390610333CCDC88Cc.5273C>T (p.Thr1758Ile)
c.845C>T (p.Thr282Ile)
c.1501C>T
c.5165C>T (p.Thr1722Ile)
c.2354C>T (p.Thr785Ile)
 gnomAD v4
14g.91273439G>CCA390610335CCDC88Cc.5273C>G (p.Thr1758Ser)
c.845C>G (p.Thr282Ser)
c.1501C>G
c.5165C>G (p.Thr1722Ser)
c.2354C>G (p.Thr785Ser)
14g.91273439G>TCA390610337CCDC88Cc.5273C>A (p.Thr1758Asn)
c.845C>A (p.Thr282Asn)
c.1501C>A
c.5165C>A (p.Thr1722Asn)
c.2354C>A (p.Thr785Asn)
 gnomAD v4
14g.91273440T>ACA390610341CCDC88Cc.5272A>T (p.Thr1758Ser)
c.844A>T (p.Thr282Ser)
c.1500A>T
c.5164A>T (p.Thr1722Ser)
c.2353A>T (p.Thr785Ser)
14g.91273440T>CCA390610343CCDC88Cc.5272A>G (p.Thr1758Ala)
c.844A>G (p.Thr282Ala)
c.1500A>G
c.5164A>G (p.Thr1722Ala)
c.2353A>G (p.Thr785Ala)
 gnomAD v4
14g.91273440T>GCA390610345CCDC88Cc.5272A>C (p.Thr1758Pro)
c.844A>C (p.Thr282Pro)
c.1500A>C
c.5164A>C (p.Thr1722Pro)
c.2353A>C (p.Thr785Pro)
14g.91273441C>ACA487829266CCDC88Cc.5271G>T (p.Leu1757=)
c.843G>T (p.Leu281=)
c.1499G>T
c.5163G>T (p.Leu1721=)
c.2352G>T (p.Leu784=)
 gnomAD v4
14g.91273441C=CA2154902368CCDC88Cc.5271G= (p.Leu1757=)
c.843G= (p.Leu281=)
c.1499G=
c.5163G= (p.Leu1721=)
c.2352G= (p.Leu784=)
14g.91273441C>GCA487829270CCDC88Cc.5271G>C (p.Leu1757=)
c.843G>C (p.Leu281=)
c.1499G>C
c.5163G>C (p.Leu1721=)
c.2352G>C (p.Leu784=)
14g.91273441C>TCA487829267CCDC88Cc.5271G>A (p.Leu1757=)
c.843G>A (p.Leu281=)
c.1499G>A
c.5163G>A (p.Leu1721=)
c.2352G>A (p.Leu784=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273442A>CCA390610354CCDC88Cc.5270T>G (p.Leu1757Arg)
c.842T>G (p.Leu281Arg)
c.1498T>G
c.5162T>G (p.Leu1721Arg)
c.2351T>G (p.Leu784Arg)
14g.91273442A>GCA390610351CCDC88Cc.5270T>C (p.Leu1757Pro)
c.842T>C (p.Leu281Pro)
c.1498T>C
c.5162T>C (p.Leu1721Pro)
c.2351T>C (p.Leu784Pro)
14g.91273442A>TCA390610349CCDC88Cc.5270T>A (p.Leu1757Gln)
c.842T>A (p.Leu281Gln)
c.1498T>A
c.5162T>A (p.Leu1721Gln)
c.2351T>A (p.Leu784Gln)
 gnomAD v4
14g.91273443G>ACA487829272CCDC88Cc.5269C>T (p.Leu1757=)
c.841C>T (p.Leu281=)
c.1497C>T
c.5161C>T (p.Leu1721=)
c.2350C>T (p.Leu784=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273443G>CCA390610357CCDC88Cc.5269C>G (p.Leu1757Val)
c.841C>G (p.Leu281Val)
c.1497C>G
c.5161C>G (p.Leu1721Val)
c.2350C>G (p.Leu784Val)
14g.91273443G=CA2154902372CCDC88Cc.5269C= (p.Leu1757=)
c.841C= (p.Leu281=)
c.1497C=
c.5161C= (p.Leu1721=)
c.2350C= (p.Leu784=)
14g.91273443G>TCA390610359CCDC88Cc.5269C>A (p.Leu1757Met)
c.841C>A (p.Leu281Met)
c.1497C>A
c.5161C>A (p.Leu1721Met)
c.2350C>A (p.Leu784Met)
 gnomAD v4

Number of alleles fetched