Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.42729075_42729079dupCA618002288CDAN1c.2592_2596dup (p.Val866GlyfsTer3)
c.*1770_*1774dup (n.*1770_*1774dup)
c.585_589dup (p.Val197GlyfsTer3)
c.2595_2599dup (p.Val867GlyfsTer3)
c.2619_2623dup (p.Val875GlyfsTer3)
c.2616_2620dup (p.Val874GlyfsTer3)
c.1584_1588dup (p.Val530GlyfsTer3)
c.1836_1840dup (p.Val614GlyfsTer3)
n.2649_2653dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.42729075_42729086dupCA2628070864CDAN1c.2584_2595dup (p.Thr865_Val866insLeuArgArgThr)
c.*1762_*1773dup (n.*1762_*1773dup)
c.577_588dup (p.Thr196_Val197insLeuArgArgThr)
c.2587_2598dup (p.Thr866_Val867insLeuArgArgThr)
c.2611_2622dup (p.Thr874_Val875insLeuArgArgThr)
c.2608_2619dup (p.Thr873_Val874insLeuArgArgThr)
c.1576_1587dup (p.Thr529_Val530insLeuArgArgThr)
c.1828_1839dup (p.Thr613_Val614insLeuArgArgThr)
n.2641_2652dup
 gnomAD v4
15g.42729075_42729078dupCA2172869191CDAN1c.2591_2594dup (p.Val866AspfsTer?)
c.*1769_*1772dup (n.*1769_*1772dup)
c.584_587dup (p.Val197AspfsTer?)
c.2594_2597dup (p.Val867AspfsTer?)
c.2618_2621dup (p.Val875AspfsTer?)
c.2615_2618dup (p.Val874AspfsTer?)
c.1583_1586dup (p.Val530AspfsTer?)
c.1835_1838dup (p.Val614AspfsTer?)
n.2648_2651dup
 dbSNP
15g.42729075T>ACA392037085CDAN1c.2593A>T (p.Thr865Ser)
c.*1771A>T (n.*1771A>T)
c.586A>T (p.Thr196Ser)
c.2596A>T (p.Thr866Ser)
c.2620A>T (p.Thr874Ser)
c.2617A>T (p.Thr873Ser)
c.1585A>T (p.Thr529Ser)
c.1837A>T (p.Thr613Ser)
n.2650A>T
15g.42729075T>CCA7515560CDAN1c.2593A>G (p.Thr865Ala)
c.*1771A>G (n.*1771A>G)
c.586A>G (p.Thr196Ala)
c.2596A>G (p.Thr866Ala)
c.2620A>G (p.Thr874Ala)
c.2617A>G (p.Thr873Ala)
c.1585A>G (p.Thr529Ala)
c.1837A>G (p.Thr613Ala)
n.2650A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729075T>GCA392037088CDAN1c.2593A>C (p.Thr865Pro)
c.*1771A>C (n.*1771A>C)
c.586A>C (p.Thr196Pro)
c.2596A>C (p.Thr866Pro)
c.2620A>C (p.Thr874Pro)
c.2617A>C (p.Thr873Pro)
c.1585A>C (p.Thr529Pro)
c.1837A>C (p.Thr613Pro)
n.2650A>C
15g.42729075T=CA2172869192CDAN1c.2593A= (p.Thr865=)
c.*1771A= (n.*1771A=)
c.586A= (p.Thr196=)
c.2596A= (p.Thr866=)
c.2620A= (p.Thr874=)
c.2617A= (p.Thr873=)
c.1585A= (p.Thr529=)
c.1837A= (p.Thr613=)
n.2650A=
15g.42729076C>ACA490001963CDAN1c.2592G>T (p.Arg864=)
c.*1770G>T (n.*1770G>T)
c.585G>T (p.Arg195=)
c.2595G>T (p.Arg865=)
c.2619G>T (p.Arg873=)
c.2616G>T (p.Arg872=)
c.1584G>T (p.Arg528=)
c.1836G>T (p.Arg612=)
n.2649G>T
 gnomAD v4
15g.42729076C>GCA490001964CDAN1c.2592G>C (p.Arg864=)
c.*1770G>C (n.*1770G>C)
c.585G>C (p.Arg195=)
c.2595G>C (p.Arg865=)
c.2619G>C (p.Arg873=)
c.2616G>C (p.Arg872=)
c.1584G>C (p.Arg528=)
c.1836G>C (p.Arg612=)
n.2649G>C
15g.42729076C>TCA490001965CDAN1c.2592G>A (p.Arg864=)
c.*1770G>A (n.*1770G>A)
c.585G>A (p.Arg195=)
c.2595G>A (p.Arg865=)
c.2619G>A (p.Arg873=)
c.2616G>A (p.Arg872=)
c.1584G>A (p.Arg528=)
c.1836G>A (p.Arg612=)
n.2649G>A
15g.42729077C>ACA392037092CDAN1c.2591G>T (p.Arg864Leu)
c.*1769G>T (n.*1769G>T)
c.584G>T (p.Arg195Leu)
c.2594G>T (p.Arg865Leu)
c.2618G>T (p.Arg873Leu)
c.2615G>T (p.Arg872Leu)
c.1583G>T (p.Arg528Leu)
c.1835G>T (p.Arg612Leu)
n.2648G>T
 COSMIC
15g.42729077C=CA2172869193CDAN1c.2591G= (p.Arg864=)
c.*1769G= (n.*1769G=)
c.584G= (p.Arg195=)
c.2594G= (p.Arg865=)
c.2618G= (p.Arg873=)
c.2615G= (p.Arg872=)
c.1583G= (p.Arg528=)
c.1835G= (p.Arg612=)
n.2648G=
15g.42729077C>GCA392037096CDAN1c.2591G>C (p.Arg864Pro)
c.*1769G>C (n.*1769G>C)
c.584G>C (p.Arg195Pro)
c.2594G>C (p.Arg865Pro)
c.2618G>C (p.Arg873Pro)
c.2615G>C (p.Arg872Pro)
c.1583G>C (p.Arg528Pro)
c.1835G>C (p.Arg612Pro)
n.2648G>C
15g.42729077C>TCA7515561CDAN1c.2591G>A (p.Arg864Gln)
c.*1769G>A (n.*1769G>A)
c.584G>A (p.Arg195Gln)
c.2594G>A (p.Arg865Gln)
c.2618G>A (p.Arg873Gln)
c.2615G>A (p.Arg872Gln)
c.1583G>A (p.Arg528Gln)
c.1835G>A (p.Arg612Gln)
n.2648G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729077_42729088delCA2628070872CDAN1c.2580_2591del (p.Ser861_Arg864del)
c.*1758_*1769del (n.*1758_*1769del)
c.573_584del (p.Ser192_Arg195del)
c.2583_2594del (p.Ser862_Arg865del)
c.2607_2618del (p.Ser870_Arg873del)
c.2604_2615del (p.Ser869_Arg872del)
c.1572_1583del (p.Ser525_Arg528del)
c.1824_1835del (p.Ser609_Arg612del)
n.2637_2648del
 gnomAD v4
15g.42729078G>ACA7515562CDAN1c.2590C>T (p.Arg864Trp)
c.*1768C>T (n.*1768C>T)
c.583C>T (p.Arg195Trp)
c.2593C>T (p.Arg865Trp)
c.2617C>T (p.Arg873Trp)
c.2614C>T (p.Arg872Trp)
c.1582C>T (p.Arg528Trp)
c.1834C>T (p.Arg612Trp)
n.2647C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729078G>CCA7515563CDAN1c.2590C>G (p.Arg864Gly)
c.*1768C>G (n.*1768C>G)
c.583C>G (p.Arg195Gly)
c.2593C>G (p.Arg865Gly)
c.2617C>G (p.Arg873Gly)
c.2614C>G (p.Arg872Gly)
c.1582C>G (p.Arg528Gly)
c.1834C>G (p.Arg612Gly)
n.2647C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729078G=CA2172869194CDAN1c.2590C= (p.Arg864=)
c.*1768C= (n.*1768C=)
c.583C= (p.Arg195=)
c.2593C= (p.Arg865=)
c.2617C= (p.Arg873=)
c.2614C= (p.Arg872=)
c.1582C= (p.Arg528=)
c.1834C= (p.Arg612=)
n.2647C=
15g.42729078G>TCA490001966CDAN1c.2590C>A (p.Arg864=)
c.*1768C>A (n.*1768C>A)
c.583C>A (p.Arg195=)
c.2593C>A (p.Arg865=)
c.2617C>A (p.Arg873=)
c.2614C>A (p.Arg872=)
c.1582C>A (p.Arg528=)
c.1834C>A (p.Arg612=)
n.2647C>A
 gnomAD v4
15g.42729079G>ACA490001967CDAN1c.2589C>T (p.Arg863=)
c.*1767C>T (n.*1767C>T)
c.582C>T (p.Arg194=)
c.2592C>T (p.Arg864=)
c.2616C>T (p.Arg872=)
c.2613C>T (p.Arg871=)
c.1581C>T (p.Arg527=)
c.1833C>T (p.Arg611=)
n.2646C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42729079G>CCA490001968CDAN1c.2589C>G (p.Arg863=)
c.*1767C>G (n.*1767C>G)
c.582C>G (p.Arg194=)
c.2592C>G (p.Arg864=)
c.2616C>G (p.Arg872=)
c.2613C>G (p.Arg871=)
c.1581C>G (p.Arg527=)
c.1833C>G (p.Arg611=)
n.2646C>G
15g.42729079G=CA2172869195CDAN1c.2589C= (p.Arg863=)
c.*1767C= (n.*1767C=)
c.582C= (p.Arg194=)
c.2592C= (p.Arg864=)
c.2616C= (p.Arg872=)
c.2613C= (p.Arg871=)
c.1581C= (p.Arg527=)
c.1833C= (p.Arg611=)
n.2646C=
15g.42729079G>TCA490001969CDAN1c.2589C>A (p.Arg863=)
c.*1767C>A (n.*1767C>A)
c.582C>A (p.Arg194=)
c.2592C>A (p.Arg864=)
c.2616C>A (p.Arg872=)
c.2613C>A (p.Arg871=)
c.1581C>A (p.Arg527=)
c.1833C>A (p.Arg611=)
n.2646C>A
15g.42729080C>ACA7515565CDAN1c.2588G>T (p.Arg863Leu)
c.*1766G>T (n.*1766G>T)
c.581G>T (p.Arg194Leu)
c.2591G>T (p.Arg864Leu)
c.2615G>T (p.Arg872Leu)
c.2612G>T (p.Arg871Leu)
c.1580G>T (p.Arg527Leu)
c.1832G>T (p.Arg611Leu)
n.2645G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729080C=CA2172869196CDAN1c.2588G= (p.Arg863=)
c.*1766G= (n.*1766G=)
c.581G= (p.Arg194=)
c.2591G= (p.Arg864=)
c.2615G= (p.Arg872=)
c.2612G= (p.Arg871=)
c.1580G= (p.Arg527=)
c.1832G= (p.Arg611=)
n.2645G=
15g.42729080C>GCA392037104CDAN1c.2588G>C (p.Arg863Pro)
c.*1766G>C (n.*1766G>C)
c.581G>C (p.Arg194Pro)
c.2591G>C (p.Arg864Pro)
c.2615G>C (p.Arg872Pro)
c.2612G>C (p.Arg871Pro)
c.1580G>C (p.Arg527Pro)
c.1832G>C (p.Arg611Pro)
n.2645G>C
 gnomAD v4
15g.42729080C>TCA7515564CDAN1c.2588G>A (p.Arg863His)
c.*1766G>A (n.*1766G>A)
c.581G>A (p.Arg194His)
c.2591G>A (p.Arg864His)
c.2615G>A (p.Arg872His)
c.2612G>A (p.Arg871His)
c.1580G>A (p.Arg527His)
c.1832G>A (p.Arg611His)
n.2645G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729081G>ACA7515566CDAN1c.2587C>T (p.Arg863Cys)
c.*1765C>T (n.*1765C>T)
c.580C>T (p.Arg194Cys)
c.2590C>T (p.Arg864Cys)
c.2614C>T (p.Arg872Cys)
c.2611C>T (p.Arg871Cys)
c.1579C>T (p.Arg527Cys)
c.1831C>T (p.Arg611Cys)
n.2644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42729081G>CCA392037108CDAN1c.2587C>G (p.Arg863Gly)
c.*1765C>G (n.*1765C>G)
c.580C>G (p.Arg194Gly)
c.2590C>G (p.Arg864Gly)
c.2614C>G (p.Arg872Gly)
c.2611C>G (p.Arg871Gly)
c.1579C>G (p.Arg527Gly)
c.1831C>G (p.Arg611Gly)
n.2644C>G
15g.42729081G=CA2172869197CDAN1c.2587C= (p.Arg863=)
c.*1765C= (n.*1765C=)
c.580C= (p.Arg194=)
c.2590C= (p.Arg864=)
c.2614C= (p.Arg872=)
c.2611C= (p.Arg871=)
c.1579C= (p.Arg527=)
c.1831C= (p.Arg611=)
n.2644C=
15g.42729081G>TCA392037111CDAN1c.2587C>A (p.Arg863Ser)
c.*1765C>A (n.*1765C>A)
c.580C>A (p.Arg194Ser)
c.2590C>A (p.Arg864Ser)
c.2614C>A (p.Arg872Ser)
c.2611C>A (p.Arg871Ser)
c.1579C>A (p.Arg527Ser)
c.1831C>A (p.Arg611Ser)
n.2644C>A
15g.42729083_42729094delCA2628070877CDAN1c.2576_2587del (p.Pro859_Leu862del)
c.*1754_*1765del (n.*1754_*1765del)
c.569_580del (p.Pro190_Leu193del)
c.2579_2590del (p.Pro860_Leu863del)
c.2603_2614del (p.Pro868_Leu871del)
c.2600_2611del (p.Pro867_Leu870del)
c.1568_1579del (p.Pro523_Leu526del)
c.1820_1831del (p.Pro607_Leu610del)
n.2633_2644del
 gnomAD v4
15g.42729082C>ACA392037113CDAN1c.2586G>T (p.Leu862Phe)
c.*1764G>T (n.*1764G>T)
c.579G>T (p.Leu193Phe)
c.2589G>T (p.Leu863Phe)
c.2613G>T (p.Leu871Phe)
c.2610G>T (p.Leu870Phe)
c.1578G>T (p.Leu526Phe)
c.1830G>T (p.Leu610Phe)
n.2643G>T
15g.42729082C>GCA392037116CDAN1c.2586G>C (p.Leu862Phe)
c.*1764G>C (n.*1764G>C)
c.579G>C (p.Leu193Phe)
c.2589G>C (p.Leu863Phe)
c.2613G>C (p.Leu871Phe)
c.2610G>C (p.Leu870Phe)
c.1578G>C (p.Leu526Phe)
c.1830G>C (p.Leu610Phe)
n.2643G>C
15g.42729082C>TCA490001970CDAN1c.2586G>A (p.Leu862=)
c.*1764G>A (n.*1764G>A)
c.579G>A (p.Leu193=)
c.2589G>A (p.Leu863=)
c.2613G>A (p.Leu871=)
c.2610G>A (p.Leu870=)
c.1578G>A (p.Leu526=)
c.1830G>A (p.Leu610=)
n.2643G>A
15g.42729083A=CA2172869198CDAN1c.2585T= (p.Leu862=)
c.*1763T= (n.*1763T=)
c.578T= (p.Leu193=)
c.2588T= (p.Leu863=)
c.2612T= (p.Leu871=)
c.2609T= (p.Leu870=)
c.1577T= (p.Leu526=)
c.1829T= (p.Leu610=)
n.2642T=
15g.42729083A>CCA392037119CDAN1c.2585T>G (p.Leu862Trp)
c.*1763T>G (n.*1763T>G)
c.578T>G (p.Leu193Trp)
c.2588T>G (p.Leu863Trp)
c.2612T>G (p.Leu871Trp)
c.2609T>G (p.Leu870Trp)
c.1577T>G (p.Leu526Trp)
c.1829T>G (p.Leu610Trp)
n.2642T>G
15g.42729083A>GCA7515567CDAN1c.2585T>C (p.Leu862Ser)
c.*1763T>C (n.*1763T>C)
c.578T>C (p.Leu193Ser)
c.2588T>C (p.Leu863Ser)
c.2612T>C (p.Leu871Ser)
c.2609T>C (p.Leu870Ser)
c.1577T>C (p.Leu526Ser)
c.1829T>C (p.Leu610Ser)
n.2642T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729083A>TCA392037122CDAN1c.2585T>A (p.Leu862Ter)
c.*1763T>A (n.*1763T>A)
c.578T>A (p.Leu193Ter)
c.2588T>A (p.Leu863Ter)
c.2612T>A (p.Leu871Ter)
c.2609T>A (p.Leu870Ter)
c.1577T>A (p.Leu526Ter)
c.1829T>A (p.Leu610Ter)
n.2642T>A
15g.42729083_42729086delinsAAGGCA2172869199CDAN1c.2582_2585delinsCCTT (p.Ser861=)
c.*1760_*1763delinsCCTT (n.*1760_*1763delinsCCTT)
c.575_578delinsCCTT (p.Ser192=)
c.2585_2588delinsCCTT (p.Ser862=)
c.2609_2612delinsCCTT (p.Ser870=)
c.2606_2609delinsCCTT (p.Ser869=)
c.1574_1577delinsCCTT (p.Ser525=)
c.1826_1829delinsCCTT (p.Ser609=)
n.2639_2642delinsCCTT
15g.42729084A>CCA392037125CDAN1c.2584T>G (p.Leu862Val)
c.*1762T>G (n.*1762T>G)
c.577T>G (p.Leu193Val)
c.2587T>G (p.Leu863Val)
c.2611T>G (p.Leu871Val)
c.2608T>G (p.Leu870Val)
c.1576T>G (p.Leu526Val)
c.1828T>G (p.Leu610Val)
n.2641T>G
15g.42729084A>GCA490001971CDAN1c.2584T>C (p.Leu862=)
c.*1762T>C (n.*1762T>C)
c.577T>C (p.Leu193=)
c.2587T>C (p.Leu863=)
c.2611T>C (p.Leu871=)
c.2608T>C (p.Leu870=)
c.1576T>C (p.Leu526=)
c.1828T>C (p.Leu610=)
n.2641T>C
15g.42729084A>TCA392037126CDAN1c.2584T>A (p.Leu862Met)
c.*1762T>A (n.*1762T>A)
c.577T>A (p.Leu193Met)
c.2587T>A (p.Leu863Met)
c.2611T>A (p.Leu871Met)
c.2608T>A (p.Leu870Met)
c.1576T>A (p.Leu526Met)
c.1828T>A (p.Leu610Met)
n.2641T>A
15g.42729087_42729089delCA2172869200CDAN1c.2582_2584del (p.Ser861del)
c.*1760_*1762del (n.*1760_*1762del)
c.575_577del (p.Ser192del)
c.2585_2587del (p.Ser862del)
c.2609_2611del (p.Ser870del)
c.2606_2608del (p.Ser869del)
c.1574_1576del (p.Ser525del)
c.1826_1828del (p.Ser609del)
n.2639_2641del
 dbSNP gnomAD v4
15g.42729085G>ACA490001972CDAN1c.2583C>T (p.Ser861=)
c.*1761C>T (n.*1761C>T)
c.576C>T (p.Ser192=)
c.2586C>T (p.Ser862=)
c.2610C>T (p.Ser870=)
c.2607C>T (p.Ser869=)
c.1575C>T (p.Ser525=)
c.1827C>T (p.Ser609=)
n.2640C>T
15g.42729085G>CCA490001974CDAN1c.2583C>G (p.Ser861=)
c.*1761C>G (n.*1761C>G)
c.576C>G (p.Ser192=)
c.2586C>G (p.Ser862=)
c.2610C>G (p.Ser870=)
c.2607C>G (p.Ser869=)
c.1575C>G (p.Ser525=)
c.1827C>G (p.Ser609=)
n.2640C>G
15g.42729085G>TCA490001973CDAN1c.2583C>A (p.Ser861=)
c.*1761C>A (n.*1761C>A)
c.576C>A (p.Ser192=)
c.2586C>A (p.Ser862=)
c.2610C>A (p.Ser870=)
c.2607C>A (p.Ser869=)
c.1575C>A (p.Ser525=)
c.1827C>A (p.Ser609=)
n.2640C>A
15g.42729086G>ACA392037130CDAN1c.2582C>T (p.Ser861Phe)
c.*1760C>T (n.*1760C>T)
c.575C>T (p.Ser192Phe)
c.2585C>T (p.Ser862Phe)
c.2609C>T (p.Ser870Phe)
c.2606C>T (p.Ser869Phe)
c.1574C>T (p.Ser525Phe)
c.1826C>T (p.Ser609Phe)
n.2639C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42729086G>CCA392037135CDAN1c.2582C>G (p.Ser861Cys)
c.*1760C>G (n.*1760C>G)
c.575C>G (p.Ser192Cys)
c.2585C>G (p.Ser862Cys)
c.2609C>G (p.Ser870Cys)
c.2606C>G (p.Ser869Cys)
c.1574C>G (p.Ser525Cys)
c.1826C>G (p.Ser609Cys)
n.2639C>G
15g.42729086G=CA2172869201CDAN1c.2582C= (p.Ser861=)
c.*1760C= (n.*1760C=)
c.575C= (p.Ser192=)
c.2585C= (p.Ser862=)
c.2609C= (p.Ser870=)
c.2606C= (p.Ser869=)
c.1574C= (p.Ser525=)
c.1826C= (p.Ser609=)
n.2639C=
15g.42729086G>TCA392037132CDAN1c.2582C>A (p.Ser861Tyr)
c.*1760C>A (n.*1760C>A)
c.575C>A (p.Ser192Tyr)
c.2585C>A (p.Ser862Tyr)
c.2609C>A (p.Ser870Tyr)
c.2606C>A (p.Ser869Tyr)
c.1574C>A (p.Ser525Tyr)
c.1826C>A (p.Ser609Tyr)
n.2639C>A
15g.42729087A=CA2172869202CDAN1c.2581T= (p.Ser861=)
c.*1759T= (n.*1759T=)
c.574T= (p.Ser192=)
c.2584T= (p.Ser862=)
c.2608T= (p.Ser870=)
c.2605T= (p.Ser869=)
c.1573T= (p.Ser525=)
c.1825T= (p.Ser609=)
n.2638T=
15g.42729087A>CCA7515568CDAN1c.2581T>G (p.Ser861Ala)
c.*1759T>G (n.*1759T>G)
c.574T>G (p.Ser192Ala)
c.2584T>G (p.Ser862Ala)
c.2608T>G (p.Ser870Ala)
c.2605T>G (p.Ser869Ala)
c.1573T>G (p.Ser525Ala)
c.1825T>G (p.Ser609Ala)
n.2638T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729087A>GCA392037139CDAN1c.2581T>C (p.Ser861Pro)
c.*1759T>C (n.*1759T>C)
c.574T>C (p.Ser192Pro)
c.2584T>C (p.Ser862Pro)
c.2608T>C (p.Ser870Pro)
c.2605T>C (p.Ser869Pro)
c.1573T>C (p.Ser525Pro)
c.1825T>C (p.Ser609Pro)
n.2638T>C
15g.42729087A>TCA392037141CDAN1c.2581T>A (p.Ser861Thr)
c.*1759T>A (n.*1759T>A)
c.574T>A (p.Ser192Thr)
c.2584T>A (p.Ser862Thr)
c.2608T>A (p.Ser870Thr)
c.2605T>A (p.Ser869Thr)
c.1573T>A (p.Ser525Thr)
c.1825T>A (p.Ser609Thr)
n.2638T>A
15g.42729088G>ACA490001975CDAN1c.2580C>T (p.Pro860=)
c.*1758C>T (n.*1758C>T)
c.573C>T (p.Pro191=)
c.2583C>T (p.Pro861=)
c.2607C>T (p.Pro869=)
c.2604C>T (p.Pro868=)
c.1572C>T (p.Pro524=)
c.1824C>T (p.Pro608=)
n.2637C>T
15g.42729088G>CCA490001976CDAN1c.2580C>G (p.Pro860=)
c.*1758C>G (n.*1758C>G)
c.573C>G (p.Pro191=)
c.2583C>G (p.Pro861=)
c.2607C>G (p.Pro869=)
c.2604C>G (p.Pro868=)
c.1572C>G (p.Pro524=)
c.1824C>G (p.Pro608=)
n.2637C>G
15g.42729088G>TCA490001977CDAN1c.2580C>A (p.Pro860=)
c.*1758C>A (n.*1758C>A)
c.573C>A (p.Pro191=)
c.2583C>A (p.Pro861=)
c.2607C>A (p.Pro869=)
c.2604C>A (p.Pro868=)
c.1572C>A (p.Pro524=)
c.1824C>A (p.Pro608=)
n.2637C>A
15g.42729089G>ACA7515569CDAN1c.2579C>T (p.Pro860Leu)
c.*1757C>T (n.*1757C>T)
c.572C>T (p.Pro191Leu)
c.2582C>T (p.Pro861Leu)
c.2606C>T (p.Pro869Leu)
c.2603C>T (p.Pro868Leu)
c.1571C>T (p.Pro524Leu)
c.1823C>T (p.Pro608Leu)
n.2636C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729089G>CCA392037145CDAN1c.2579C>G (p.Pro860Arg)
c.*1757C>G (n.*1757C>G)
c.572C>G (p.Pro191Arg)
c.2582C>G (p.Pro861Arg)
c.2606C>G (p.Pro869Arg)
c.2603C>G (p.Pro868Arg)
c.1571C>G (p.Pro524Arg)
c.1823C>G (p.Pro608Arg)
n.2636C>G
15g.42729089G=CA2172869203CDAN1c.2579C= (p.Pro860=)
c.*1757C= (n.*1757C=)
c.572C= (p.Pro191=)
c.2582C= (p.Pro861=)
c.2606C= (p.Pro869=)
c.2603C= (p.Pro868=)
c.1571C= (p.Pro524=)
c.1823C= (p.Pro608=)
n.2636C=
15g.42729089G>TCA392037147CDAN1c.2579C>A (p.Pro860His)
c.*1757C>A (n.*1757C>A)
c.572C>A (p.Pro191His)
c.2582C>A (p.Pro861His)
c.2606C>A (p.Pro869His)
c.2603C>A (p.Pro868His)
c.1571C>A (p.Pro524His)
c.1823C>A (p.Pro608His)
n.2636C>A
15g.42729090G>ACA392037149CDAN1c.2578C>T (p.Pro860Ser)
c.*1756C>T (n.*1756C>T)
c.571C>T (p.Pro191Ser)
c.2581C>T (p.Pro861Ser)
c.2605C>T (p.Pro869Ser)
c.2602C>T (p.Pro868Ser)
c.1570C>T (p.Pro524Ser)
c.1822C>T (p.Pro608Ser)
n.2635C>T
 gnomAD v4
15g.42729090G>CCA392037150CDAN1c.2578C>G (p.Pro860Ala)
c.*1756C>G (n.*1756C>G)
c.571C>G (p.Pro191Ala)
c.2581C>G (p.Pro861Ala)
c.2605C>G (p.Pro869Ala)
c.2602C>G (p.Pro868Ala)
c.1570C>G (p.Pro524Ala)
c.1822C>G (p.Pro608Ala)
n.2635C>G
15g.42729090G>TCA392037153CDAN1c.2578C>A (p.Pro860Thr)
c.*1756C>A (n.*1756C>A)
c.571C>A (p.Pro191Thr)
c.2581C>A (p.Pro861Thr)
c.2605C>A (p.Pro869Thr)
c.2602C>A (p.Pro868Thr)
c.1570C>A (p.Pro524Thr)
c.1822C>A (p.Pro608Thr)
n.2635C>A
 COSMIC
15g.42729091C>ACA7515571CDAN1c.2577G>T (p.Pro859=)
c.*1755G>T (n.*1755G>T)
c.570G>T (p.Pro190=)
c.2580G>T (p.Pro860=)
c.2604G>T (p.Pro868=)
c.2601G>T (p.Pro867=)
c.1569G>T (p.Pro523=)
c.1821G>T (p.Pro607=)
n.2634G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729091C=CA2172869204CDAN1c.2577G= (p.Pro859=)
c.*1755G= (n.*1755G=)
c.570G= (p.Pro190=)
c.2580G= (p.Pro860=)
c.2604G= (p.Pro868=)
c.2601G= (p.Pro867=)
c.1569G= (p.Pro523=)
c.1821G= (p.Pro607=)
n.2634G=
15g.42729091C>GCA490001978CDAN1c.2577G>C (p.Pro859=)
c.*1755G>C (n.*1755G>C)
c.570G>C (p.Pro190=)
c.2580G>C (p.Pro860=)
c.2604G>C (p.Pro868=)
c.2601G>C (p.Pro867=)
c.1569G>C (p.Pro523=)
c.1821G>C (p.Pro607=)
n.2634G>C
 gnomAD v4
15g.42729091C>TCA7515570CDAN1c.2577G>A (p.Pro859=)
c.*1755G>A (n.*1755G>A)
c.570G>A (p.Pro190=)
c.2580G>A (p.Pro860=)
c.2604G>A (p.Pro868=)
c.2601G>A (p.Pro867=)
c.1569G>A (p.Pro523=)
c.1821G>A (p.Pro607=)
n.2634G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42729092G>ACA7515572CDAN1c.2576C>T (p.Pro859Leu)
c.*1754C>T (n.*1754C>T)
c.569C>T (p.Pro190Leu)
c.2579C>T (p.Pro860Leu)
c.2603C>T (p.Pro868Leu)
c.2600C>T (p.Pro867Leu)
c.1568C>T (p.Pro523Leu)
c.1820C>T (p.Pro607Leu)
n.2633C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.42729092G>CCA392037163CDAN1c.2576C>G (p.Pro859Arg)
c.*1754C>G (n.*1754C>G)
c.569C>G (p.Pro190Arg)
c.2579C>G (p.Pro860Arg)
c.2603C>G (p.Pro868Arg)
c.2600C>G (p.Pro867Arg)
c.1568C>G (p.Pro523Arg)
c.1820C>G (p.Pro607Arg)
n.2633C>G
15g.42729092G=CA2172869205CDAN1c.2576C= (p.Pro859=)
c.*1754C= (n.*1754C=)
c.569C= (p.Pro190=)
c.2579C= (p.Pro860=)
c.2603C= (p.Pro868=)
c.2600C= (p.Pro867=)
c.1568C= (p.Pro523=)
c.1820C= (p.Pro607=)
n.2633C=
15g.42729092G>TCA392037161CDAN1c.2576C>A (p.Pro859Gln)
c.*1754C>A (n.*1754C>A)
c.569C>A (p.Pro190Gln)
c.2579C>A (p.Pro860Gln)
c.2603C>A (p.Pro868Gln)
c.2600C>A (p.Pro867Gln)
c.1568C>A (p.Pro523Gln)
c.1820C>A (p.Pro607Gln)
n.2633C>A
 dbSNP
15g.42729093G>ACA392037167CDAN1c.2575C>T (p.Pro859Ser)
c.*1753C>T (n.*1753C>T)
c.568C>T (p.Pro190Ser)
c.2578C>T (p.Pro860Ser)
c.2602C>T (p.Pro868Ser)
c.2599C>T (p.Pro867Ser)
c.1567C>T (p.Pro523Ser)
c.1819C>T (p.Pro607Ser)
n.2632C>T
 gnomAD v4
15g.42729093G>CCA392037169CDAN1c.2575C>G (p.Pro859Ala)
c.*1753C>G (n.*1753C>G)
c.568C>G (p.Pro190Ala)
c.2578C>G (p.Pro860Ala)
c.2602C>G (p.Pro868Ala)
c.2599C>G (p.Pro867Ala)
c.1567C>G (p.Pro523Ala)
c.1819C>G (p.Pro607Ala)
n.2632C>G
15g.42729093G>TCA392037171CDAN1c.2575C>A (p.Pro859Thr)
c.*1753C>A (n.*1753C>A)
c.568C>A (p.Pro190Thr)
c.2578C>A (p.Pro860Thr)
c.2602C>A (p.Pro868Thr)
c.2599C>A (p.Pro867Thr)
c.1567C>A (p.Pro523Thr)
c.1819C>A (p.Pro607Thr)
n.2632C>A
15g.42729094C>ACA392037174CDAN1c.2574G>T (p.Gln858His)
c.*1752G>T (n.*1752G>T)
c.567G>T (p.Gln189His)
c.2577G>T (p.Gln859His)
c.2601G>T (p.Gln867His)
c.2598G>T (p.Gln866His)
c.1566G>T (p.Gln522His)
c.1818G>T (p.Gln606His)
n.2631G>T
15g.42729094C=CA2172869206CDAN1c.2574G= (p.Gln858=)
c.*1752G= (n.*1752G=)
c.567G= (p.Gln189=)
c.2577G= (p.Gln859=)
c.2601G= (p.Gln867=)
c.2598G= (p.Gln866=)
c.1566G= (p.Gln522=)
c.1818G= (p.Gln606=)
n.2631G=
15g.42729094C>GCA392037176CDAN1c.2574G>C (p.Gln858His)
c.*1752G>C (n.*1752G>C)
c.567G>C (p.Gln189His)
c.2577G>C (p.Gln859His)
c.2601G>C (p.Gln867His)
c.2598G>C (p.Gln866His)
c.1566G>C (p.Gln522His)
c.1818G>C (p.Gln606His)
n.2631G>C
 gnomAD v4
15g.42729094C>TCA490001979CDAN1c.2574G>A (p.Gln858=)
c.*1752G>A (n.*1752G>A)
c.567G>A (p.Gln189=)
c.2577G>A (p.Gln859=)
c.2601G>A (p.Gln867=)
c.2598G>A (p.Gln866=)
c.1566G>A (p.Gln522=)
c.1818G>A (p.Gln606=)
n.2631G>A
15g.42729095T>ACA7515573CDAN1c.2573A>T (p.Gln858Leu)
c.*1751A>T (n.*1751A>T)
c.566A>T (p.Gln189Leu)
c.2576A>T (p.Gln859Leu)
c.2600A>T (p.Gln867Leu)
c.2597A>T (p.Gln866Leu)
c.1565A>T (p.Gln522Leu)
c.1817A>T (p.Gln606Leu)
n.2630A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729095T>CCA392037181CDAN1c.2573A>G (p.Gln858Arg)
c.*1751A>G (n.*1751A>G)
c.566A>G (p.Gln189Arg)
c.2576A>G (p.Gln859Arg)
c.2600A>G (p.Gln867Arg)
c.2597A>G (p.Gln866Arg)
c.1565A>G (p.Gln522Arg)
c.1817A>G (p.Gln606Arg)
n.2630A>G
15g.42729095T>GCA392037183CDAN1c.2573A>C (p.Gln858Pro)
c.*1751A>C (n.*1751A>C)
c.566A>C (p.Gln189Pro)
c.2576A>C (p.Gln859Pro)
c.2600A>C (p.Gln867Pro)
c.2597A>C (p.Gln866Pro)
c.1565A>C (p.Gln522Pro)
c.1817A>C (p.Gln606Pro)
n.2630A>C
15g.42729095T=CA2172869208CDAN1c.2573A= (p.Gln858=)
c.*1751A= (n.*1751A=)
c.566A= (p.Gln189=)
c.2576A= (p.Gln859=)
c.2600A= (p.Gln867=)
c.2597A= (p.Gln866=)
c.1565A= (p.Gln522=)
c.1817A= (p.Gln606=)
n.2630A=
15g.42729097_42729100dupCA2172869207CDAN1c.2570_2573dup (p.Pro860AlafsTer?)
c.*1748_*1751dup (n.*1748_*1751dup)
c.563_566dup (p.Pro191AlafsTer?)
c.2573_2576dup (p.Pro861AlafsTer?)
c.2597_2600dup (p.Pro869AlafsTer?)
c.2594_2597dup (p.Pro868AlafsTer?)
c.1562_1565dup (p.Pro524AlafsTer?)
c.1814_1817dup (p.Pro608AlafsTer?)
n.2627_2630dup
 dbSNP
15g.42729096G>ACA392037186CDAN1c.2572C>T (p.Gln858Ter)
c.*1750C>T (n.*1750C>T)
c.565C>T (p.Gln189Ter)
c.2575C>T (p.Gln859Ter)
c.2599C>T (p.Gln867Ter)
c.2596C>T (p.Gln866Ter)
c.1564C>T (p.Gln522Ter)
c.1816C>T (p.Gln606Ter)
n.2629C>T
 gnomAD v4
15g.42729096G>CCA392037188CDAN1c.2572C>G (p.Gln858Glu)
c.*1750C>G (n.*1750C>G)
c.565C>G (p.Gln189Glu)
c.2575C>G (p.Gln859Glu)
c.2599C>G (p.Gln867Glu)
c.2596C>G (p.Gln866Glu)
c.1564C>G (p.Gln522Glu)
c.1816C>G (p.Gln606Glu)
n.2629C>G
15g.42729096G>TCA392037189CDAN1c.2572C>A (p.Gln858Lys)
c.*1750C>A (n.*1750C>A)
c.565C>A (p.Gln189Lys)
c.2575C>A (p.Gln859Lys)
c.2599C>A (p.Gln867Lys)
c.2596C>A (p.Gln866Lys)
c.1564C>A (p.Gln522Lys)
c.1816C>A (p.Gln606Lys)
n.2629C>A
15g.42729097dupCA2628070886CDAN1c.2572dup (p.Gln858ProfsTer?)
c.*1750dup (n.*1750dup)
c.565dup (p.Gln189ProfsTer?)
c.2575dup (p.Gln859ProfsTer?)
c.2599dup (p.Gln867ProfsTer?)
c.2596dup (p.Gln866ProfsTer?)
c.1564dup (p.Gln522ProfsTer?)
c.1816dup (p.Gln606ProfsTer?)
n.2629dup
 gnomAD v4
15g.42729097G>ACA490001980CDAN1c.2571C>T (p.Asn857=)
c.*1749C>T (n.*1749C>T)
c.564C>T (p.Asn188=)
c.2574C>T (p.Asn858=)
c.2598C>T (p.Asn866=)
c.2595C>T (p.Asn865=)
c.1563C>T (p.Asn521=)
c.1815C>T (p.Asn605=)
n.2628C>T
15g.42729097G>CCA392037191CDAN1c.2571C>G (p.Asn857Lys)
c.*1749C>G (n.*1749C>G)
c.564C>G (p.Asn188Lys)
c.2574C>G (p.Asn858Lys)
c.2598C>G (p.Asn866Lys)
c.2595C>G (p.Asn865Lys)
c.1563C>G (p.Asn521Lys)
c.1815C>G (p.Asn605Lys)
n.2628C>G
15g.42729097G>TCA392037193CDAN1c.2571C>A (p.Asn857Lys)
c.*1749C>A (n.*1749C>A)
c.564C>A (p.Asn188Lys)
c.2574C>A (p.Asn858Lys)
c.2598C>A (p.Asn866Lys)
c.2595C>A (p.Asn865Lys)
c.1563C>A (p.Asn521Lys)
c.1815C>A (p.Asn605Lys)
n.2628C>A
15g.42729098T>ACA392037195CDAN1c.2570A>T (p.Asn857Ile)
c.*1748A>T (n.*1748A>T)
c.563A>T (p.Asn188Ile)
c.2573A>T (p.Asn858Ile)
c.2597A>T (p.Asn866Ile)
c.2594A>T (p.Asn865Ile)
c.1562A>T (p.Asn521Ile)
c.1814A>T (p.Asn605Ile)
n.2627A>T
15g.42729098T>CCA392037199CDAN1c.2570A>G (p.Asn857Ser)
c.*1748A>G (n.*1748A>G)
c.563A>G (p.Asn188Ser)
c.2573A>G (p.Asn858Ser)
c.2597A>G (p.Asn866Ser)
c.2594A>G (p.Asn865Ser)
c.1562A>G (p.Asn521Ser)
c.1814A>G (p.Asn605Ser)
n.2627A>G
15g.42729098T>GCA392037198CDAN1c.2570A>C (p.Asn857Thr)
c.*1748A>C (n.*1748A>C)
c.563A>C (p.Asn188Thr)
c.2573A>C (p.Asn858Thr)
c.2597A>C (p.Asn866Thr)
c.2594A>C (p.Asn865Thr)
c.1562A>C (p.Asn521Thr)
c.1814A>C (p.Asn605Thr)
n.2627A>C
15g.42729099T>ACA392037202CDAN1c.2569A>T (p.Asn857Tyr)
c.*1747A>T (n.*1747A>T)
c.562A>T (p.Asn188Tyr)
c.2572A>T (p.Asn858Tyr)
c.2596A>T (p.Asn866Tyr)
c.2593A>T (p.Asn865Tyr)
c.1561A>T (p.Asn521Tyr)
c.1813A>T (p.Asn605Tyr)
n.2626A>T
15g.42729099T>CCA392037204CDAN1c.2569A>G (p.Asn857Asp)
c.*1747A>G (n.*1747A>G)
c.562A>G (p.Asn188Asp)
c.2572A>G (p.Asn858Asp)
c.2596A>G (p.Asn866Asp)
c.2593A>G (p.Asn865Asp)
c.1561A>G (p.Asn521Asp)
c.1813A>G (p.Asn605Asp)
n.2626A>G
15g.42729099T>GCA392037206CDAN1c.2569A>C (p.Asn857His)
c.*1747A>C (n.*1747A>C)
c.562A>C (p.Asn188His)
c.2572A>C (p.Asn858His)
c.2596A>C (p.Asn866His)
c.2593A>C (p.Asn865His)
c.1561A>C (p.Asn521His)
c.1813A>C (p.Asn605His)
n.2626A>C
15g.42729100G>ACA490001981CDAN1c.2568C>T (p.His856=)
c.*1746C>T (n.*1746C>T)
c.561C>T (p.His187=)
c.2571C>T (p.His857=)
c.2595C>T (p.His865=)
c.2592C>T (p.His864=)
c.1560C>T (p.His520=)
c.1812C>T (p.His604=)
n.2625C>T
 gnomAD v4
15g.42729100G>CCA392037209CDAN1c.2568C>G (p.His856Gln)
c.*1746C>G (n.*1746C>G)
c.561C>G (p.His187Gln)
c.2571C>G (p.His857Gln)
c.2595C>G (p.His865Gln)
c.2592C>G (p.His864Gln)
c.1560C>G (p.His520Gln)
c.1812C>G (p.His604Gln)
n.2625C>G
15g.42729100G=CA2172869209CDAN1c.2568C= (p.His856=)
c.*1746C= (n.*1746C=)
c.561C= (p.His187=)
c.2571C= (p.His857=)
c.2595C= (p.His865=)
c.2592C= (p.His864=)
c.1560C= (p.His520=)
c.1812C= (p.His604=)
n.2625C=
15g.42729100G>TCA392037210CDAN1c.2568C>A (p.His856Gln)
c.*1746C>A (n.*1746C>A)
c.561C>A (p.His187Gln)
c.2571C>A (p.His857Gln)
c.2595C>A (p.His865Gln)
c.2592C>A (p.His864Gln)
c.1560C>A (p.His520Gln)
c.1812C>A (p.His604Gln)
n.2625C>A
 dbSNP gnomAD v4
15g.42729101T>ACA392037213CDAN1c.2567A>T (p.His856Leu)
c.*1745A>T (n.*1745A>T)
c.560A>T (p.His187Leu)
c.2570A>T (p.His857Leu)
c.2594A>T (p.His865Leu)
c.2591A>T (p.His864Leu)
c.1559A>T (p.His520Leu)
c.1811A>T (p.His604Leu)
n.2624A>T
15g.42729101T>CCA392037215CDAN1c.2567A>G (p.His856Arg)
c.*1745A>G (n.*1745A>G)
c.560A>G (p.His187Arg)
c.2570A>G (p.His857Arg)
c.2594A>G (p.His865Arg)
c.2591A>G (p.His864Arg)
c.1559A>G (p.His520Arg)
c.1811A>G (p.His604Arg)
n.2624A>G
 dbSNP
15g.42729101T>GCA392037218CDAN1c.2567A>C (p.His856Pro)
c.*1745A>C (n.*1745A>C)
c.560A>C (p.His187Pro)
c.2570A>C (p.His857Pro)
c.2594A>C (p.His865Pro)
c.2591A>C (p.His864Pro)
c.1559A>C (p.His520Pro)
c.1811A>C (p.His604Pro)
n.2624A>C
15g.42729101T=CA2172869210CDAN1c.2567A= (p.His856=)
c.*1745A= (n.*1745A=)
c.560A= (p.His187=)
c.2570A= (p.His857=)
c.2594A= (p.His865=)
c.2591A= (p.His864=)
c.1559A= (p.His520=)
c.1811A= (p.His604=)
n.2624A=
15g.42729102G>ACA392037220CDAN1c.2566C>T (p.His856Tyr)
c.*1744C>T (n.*1744C>T)
c.559C>T (p.His187Tyr)
c.2569C>T (p.His857Tyr)
c.2593C>T (p.His865Tyr)
c.2590C>T (p.His864Tyr)
c.1558C>T (p.His520Tyr)
c.1810C>T (p.His604Tyr)
n.2623C>T
15g.42729102G>CCA392037223CDAN1c.2566C>G (p.His856Asp)
c.*1744C>G (n.*1744C>G)
c.559C>G (p.His187Asp)
c.2569C>G (p.His857Asp)
c.2593C>G (p.His865Asp)
c.2590C>G (p.His864Asp)
c.1558C>G (p.His520Asp)
c.1810C>G (p.His604Asp)
n.2623C>G
15g.42729102G>TCA392037225CDAN1c.2566C>A (p.His856Asn)
c.*1744C>A (n.*1744C>A)
c.559C>A (p.His187Asn)
c.2569C>A (p.His857Asn)
c.2593C>A (p.His865Asn)
c.2590C>A (p.His864Asn)
c.1558C>A (p.His520Asn)
c.1810C>A (p.His604Asn)
n.2623C>A
15g.42729103G>ACA490001982CDAN1c.2565C>T (p.Phe855=)
c.*1743C>T (n.*1743C>T)
c.558C>T (p.Phe186=)
c.2568C>T (p.Phe856=)
c.2592C>T (p.Phe864=)
c.2589C>T (p.Phe863=)
c.1557C>T (p.Phe519=)
c.1809C>T (p.Phe603=)
n.2622C>T
15g.42729103G>CCA392037228CDAN1c.2565C>G (p.Phe855Leu)
c.*1743C>G (n.*1743C>G)
c.558C>G (p.Phe186Leu)
c.2568C>G (p.Phe856Leu)
c.2592C>G (p.Phe864Leu)
c.2589C>G (p.Phe863Leu)
c.1557C>G (p.Phe519Leu)
c.1809C>G (p.Phe603Leu)
n.2622C>G
15g.42729103G>TCA392037230CDAN1c.2565C>A (p.Phe855Leu)
c.*1743C>A (n.*1743C>A)
c.558C>A (p.Phe186Leu)
c.2568C>A (p.Phe856Leu)
c.2592C>A (p.Phe864Leu)
c.2589C>A (p.Phe863Leu)
c.1557C>A (p.Phe519Leu)
c.1809C>A (p.Phe603Leu)
n.2622C>A
15g.42729104A>CCA392037233CDAN1c.2564T>G (p.Phe855Cys)
c.*1742T>G (n.*1742T>G)
c.557T>G (p.Phe186Cys)
c.2567T>G (p.Phe856Cys)
c.2591T>G (p.Phe864Cys)
c.2588T>G (p.Phe863Cys)
c.1556T>G (p.Phe519Cys)
c.1808T>G (p.Phe603Cys)
n.2621T>G
15g.42729104A>GCA392037235CDAN1c.2564T>C (p.Phe855Ser)
c.*1742T>C (n.*1742T>C)
c.557T>C (p.Phe186Ser)
c.2567T>C (p.Phe856Ser)
c.2591T>C (p.Phe864Ser)
c.2588T>C (p.Phe863Ser)
c.1556T>C (p.Phe519Ser)
c.1808T>C (p.Phe603Ser)
n.2621T>C
15g.42729104A>TCA392037236CDAN1c.2564T>A (p.Phe855Tyr)
c.*1742T>A (n.*1742T>A)
c.557T>A (p.Phe186Tyr)
c.2567T>A (p.Phe856Tyr)
c.2591T>A (p.Phe864Tyr)
c.2588T>A (p.Phe863Tyr)
c.1556T>A (p.Phe519Tyr)
c.1808T>A (p.Phe603Tyr)
n.2621T>A
15g.42729108delCA2575698381CDAN1c.2564del (p.Phe855SerfsTer12)
c.*1742del (n.*1742del)
c.557del (p.Phe186SerfsTer12)
c.2567del (p.Phe856SerfsTer12)
c.2591del (p.Phe864SerfsTer12)
c.2588del (p.Phe863SerfsTer12)
c.1556del (p.Phe519SerfsTer12)
c.1808del (p.Phe603SerfsTer12)
n.2621del
 gnomAD v4
15g.42729105A>CCA392037240CDAN1c.2563T>G (p.Phe855Val)
c.*1741T>G (n.*1741T>G)
c.556T>G (p.Phe186Val)
c.2566T>G (p.Phe856Val)
c.2590T>G (p.Phe864Val)
c.2587T>G (p.Phe863Val)
c.1555T>G (p.Phe519Val)
c.1807T>G (p.Phe603Val)
n.2620T>G
15g.42729105A>GCA392037242CDAN1c.2563T>C (p.Phe855Leu)
c.*1741T>C (n.*1741T>C)
c.556T>C (p.Phe186Leu)
c.2566T>C (p.Phe856Leu)
c.2590T>C (p.Phe864Leu)
c.2587T>C (p.Phe863Leu)
c.1555T>C (p.Phe519Leu)
c.1807T>C (p.Phe603Leu)
n.2620T>C
15g.42729105A>TCA392037244CDAN1c.2563T>A (p.Phe855Ile)
c.*1741T>A (n.*1741T>A)
c.556T>A (p.Phe186Ile)
c.2566T>A (p.Phe856Ile)
c.2590T>A (p.Phe864Ile)
c.2587T>A (p.Phe863Ile)
c.1555T>A (p.Phe519Ile)
c.1807T>A (p.Phe603Ile)
n.2620T>A
15g.42729106A=CA2172869211CDAN1c.2562T= (p.Phe854=)
c.*1740T= (n.*1740T=)
c.555T= (p.Phe185=)
c.2565T= (p.Phe855=)
c.2589T= (p.Phe863=)
c.2586T= (p.Phe862=)
c.1554T= (p.Phe518=)
c.1806T= (p.Phe602=)
n.2619T=
15g.42729106A>CCA392037247CDAN1c.2562T>G (p.Phe854Leu)
c.*1740T>G (n.*1740T>G)
c.555T>G (p.Phe185Leu)
c.2565T>G (p.Phe855Leu)
c.2589T>G (p.Phe863Leu)
c.2586T>G (p.Phe862Leu)
c.1554T>G (p.Phe518Leu)
c.1806T>G (p.Phe602Leu)
n.2619T>G
15g.42729106A>GCA490001983CDAN1c.2562T>C (p.Phe854=)
c.*1740T>C (n.*1740T>C)
c.555T>C (p.Phe185=)
c.2565T>C (p.Phe855=)
c.2589T>C (p.Phe863=)
c.2586T>C (p.Phe862=)
c.1554T>C (p.Phe518=)
c.1806T>C (p.Phe602=)
n.2619T>C
 dbSNP gnomAD v3 gnomAD v4
15g.42729106A>TCA392037249CDAN1c.2562T>A (p.Phe854Leu)
c.*1740T>A (n.*1740T>A)
c.555T>A (p.Phe185Leu)
c.2565T>A (p.Phe855Leu)
c.2589T>A (p.Phe863Leu)
c.2586T>A (p.Phe862Leu)
c.1554T>A (p.Phe518Leu)
c.1806T>A (p.Phe602Leu)
n.2619T>A
15g.42729107A>CCA392037253CDAN1c.2561T>G (p.Phe854Cys)
c.*1739T>G (n.*1739T>G)
c.554T>G (p.Phe185Cys)
c.2564T>G (p.Phe855Cys)
c.2588T>G (p.Phe863Cys)
c.2585T>G (p.Phe862Cys)
c.1553T>G (p.Phe518Cys)
c.1805T>G (p.Phe602Cys)
n.2618T>G
15g.42729107A>GCA392037257CDAN1c.2561T>C (p.Phe854Ser)
c.*1739T>C (n.*1739T>C)
c.554T>C (p.Phe185Ser)
c.2564T>C (p.Phe855Ser)
c.2588T>C (p.Phe863Ser)
c.2585T>C (p.Phe862Ser)
c.1553T>C (p.Phe518Ser)
c.1805T>C (p.Phe602Ser)
n.2618T>C
15g.42729107A>TCA392037255CDAN1c.2561T>A (p.Phe854Tyr)
c.*1739T>A (n.*1739T>A)
c.554T>A (p.Phe185Tyr)
c.2564T>A (p.Phe855Tyr)
c.2588T>A (p.Phe863Tyr)
c.2585T>A (p.Phe862Tyr)
c.1553T>A (p.Phe518Tyr)
c.1805T>A (p.Phe602Tyr)
n.2618T>A
15g.42729108A=CA2172869212CDAN1c.2560T= (p.Phe854=)
c.*1738T= (n.*1738T=)
c.553T= (p.Phe185=)
c.2563T= (p.Phe855=)
c.2587T= (p.Phe863=)
c.2584T= (p.Phe862=)
c.1552T= (p.Phe518=)
c.1804T= (p.Phe602=)
n.2617T=
15g.42729108A>CCA392037260CDAN1c.2560T>G (p.Phe854Val)
c.*1738T>G (n.*1738T>G)
c.553T>G (p.Phe185Val)
c.2563T>G (p.Phe855Val)
c.2587T>G (p.Phe863Val)
c.2584T>G (p.Phe862Val)
c.1552T>G (p.Phe518Val)
c.1804T>G (p.Phe602Val)
n.2617T>G
15g.42729108A>GCA392037262CDAN1c.2560T>C (p.Phe854Leu)
c.*1738T>C (n.*1738T>C)
c.553T>C (p.Phe185Leu)
c.2563T>C (p.Phe855Leu)
c.2587T>C (p.Phe863Leu)
c.2584T>C (p.Phe862Leu)
c.1552T>C (p.Phe518Leu)
c.1804T>C (p.Phe602Leu)
n.2617T>C
15g.42729108A>TCA392037264CDAN1c.2560T>A (p.Phe854Ile)
c.*1738T>A (n.*1738T>A)
c.553T>A (p.Phe185Ile)
c.2563T>A (p.Phe855Ile)
c.2587T>A (p.Phe863Ile)
c.2584T>A (p.Phe862Ile)
c.1552T>A (p.Phe518Ile)
c.1804T>A (p.Phe602Ile)
n.2617T>A
 dbSNP gnomAD v3 gnomAD v4
15g.42729109G>ACA490001985CDAN1c.2559C>T (p.Ala853=)
c.*1737C>T (n.*1737C>T)
c.552C>T (p.Ala184=)
c.2562C>T (p.Ala854=)
c.2586C>T (p.Ala862=)
c.2583C>T (p.Ala861=)
c.1551C>T (p.Ala517=)
c.1803C>T (p.Ala601=)
n.2616C>T
15g.42729109G>CCA7515574CDAN1c.2559C>G (p.Ala853=)
c.*1737C>G (n.*1737C>G)
c.552C>G (p.Ala184=)
c.2562C>G (p.Ala854=)
c.2586C>G (p.Ala862=)
c.2583C>G (p.Ala861=)
c.1551C>G (p.Ala517=)
c.1803C>G (p.Ala601=)
n.2616C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729109G=CA2172869213CDAN1c.2559C= (p.Ala853=)
c.*1737C= (n.*1737C=)
c.552C= (p.Ala184=)
c.2562C= (p.Ala854=)
c.2586C= (p.Ala862=)
c.2583C= (p.Ala861=)
c.1551C= (p.Ala517=)
c.1803C= (p.Ala601=)
n.2616C=
15g.42729109G>TCA490001984CDAN1c.2559C>A (p.Ala853=)
c.*1737C>A (n.*1737C>A)
c.552C>A (p.Ala184=)
c.2562C>A (p.Ala854=)
c.2586C>A (p.Ala862=)
c.2583C>A (p.Ala861=)
c.1551C>A (p.Ala517=)
c.1803C>A (p.Ala601=)
n.2616C>A
15g.42729110G>ACA269903005CDAN1c.2558C>T (p.Ala853Val)
c.*1736C>T (n.*1736C>T)
c.551C>T (p.Ala184Val)
c.2561C>T (p.Ala854Val)
c.2585C>T (p.Ala862Val)
c.2582C>T (p.Ala861Val)
c.1550C>T (p.Ala517Val)
c.1802C>T (p.Ala601Val)
n.2615C>T
 dbSNP COSMIC
15g.42729110G>CCA392037271CDAN1c.2558C>G (p.Ala853Gly)
c.*1736C>G (n.*1736C>G)
c.551C>G (p.Ala184Gly)
c.2561C>G (p.Ala854Gly)
c.2585C>G (p.Ala862Gly)
c.2582C>G (p.Ala861Gly)
c.1550C>G (p.Ala517Gly)
c.1802C>G (p.Ala601Gly)
n.2615C>G
 dbSNP gnomAD v4
15g.42729110G=CA2172869214CDAN1c.2558C= (p.Ala853=)
c.*1736C= (n.*1736C=)
c.551C= (p.Ala184=)
c.2561C= (p.Ala854=)
c.2585C= (p.Ala862=)
c.2582C= (p.Ala861=)
c.1550C= (p.Ala517=)
c.1802C= (p.Ala601=)
n.2615C=
15g.42729110G>TCA392037269CDAN1c.2558C>A (p.Ala853Asp)
c.*1736C>A (n.*1736C>A)
c.551C>A (p.Ala184Asp)
c.2561C>A (p.Ala854Asp)
c.2585C>A (p.Ala862Asp)
c.2582C>A (p.Ala861Asp)
c.1550C>A (p.Ala517Asp)
c.1802C>A (p.Ala601Asp)
n.2615C>A
15g.42729117_42729131delCA712945464CDAN1c.2544_2558del
c.*1722_*1736del
c.537_551del
c.2547_2561del
c.2571_2585del
c.2568_2582del
c.1536_1550del
c.1788_1802del
n.2601_2615del
 gnomAD v3 gnomAD v4
15g.42729111C>ACA392037274CDAN1c.2557G>T (p.Ala853Ser)
c.*1735G>T (n.*1735G>T)
c.550G>T (p.Ala184Ser)
c.2560G>T (p.Ala854Ser)
c.2584G>T (p.Ala862Ser)
c.2581G>T (p.Ala861Ser)
c.1549G>T (p.Ala517Ser)
c.1801G>T (p.Ala601Ser)
n.2614G>T
15g.42729111C=CA2172869215CDAN1c.2557G= (p.Ala853=)
c.*1735G= (n.*1735G=)
c.550G= (p.Ala184=)
c.2560G= (p.Ala854=)
c.2584G= (p.Ala862=)
c.2581G= (p.Ala861=)
c.1549G= (p.Ala517=)
c.1801G= (p.Ala601=)
n.2614G=
15g.42729111C>GCA392037277CDAN1c.2557G>C (p.Ala853Pro)
c.*1735G>C (n.*1735G>C)
c.550G>C (p.Ala184Pro)
c.2560G>C (p.Ala854Pro)
c.2584G>C (p.Ala862Pro)
c.2581G>C (p.Ala861Pro)
c.1549G>C (p.Ala517Pro)
c.1801G>C (p.Ala601Pro)
n.2614G>C
 dbSNP gnomAD v2
15g.42729111C>TCA392037279CDAN1c.2557G>A (p.Ala853Thr)
c.*1735G>A (n.*1735G>A)
c.550G>A (p.Ala184Thr)
c.2560G>A (p.Ala854Thr)
c.2584G>A (p.Ala862Thr)
c.2581G>A (p.Ala861Thr)
c.1549G>A (p.Ala517Thr)
c.1801G>A (p.Ala601Thr)
n.2614G>A
 gnomAD v4
15g.42729112dupCA2575698382CDAN1c.2557dup (p.Ala853GlyfsTer?)
c.*1735dup (n.*1735dup)
c.550dup (p.Ala184GlyfsTer?)
c.2560dup (p.Ala854GlyfsTer?)
c.2584dup (p.Ala862GlyfsTer?)
c.2581dup (p.Ala861GlyfsTer?)
c.1549dup (p.Ala517GlyfsTer?)
c.1801dup (p.Ala601GlyfsTer?)
n.2614dup
 ClinVar
15g.42729112C>ACA392037282CDAN1c.2556G>T (p.Gln852His)
c.*1734G>T (n.*1734G>T)
c.549G>T (p.Gln183His)
c.2559G>T (p.Gln853His)
c.2583G>T (p.Gln861His)
c.2580G>T (p.Gln860His)
c.1548G>T (p.Gln516His)
c.1800G>T (p.Gln600His)
n.2613G>T
 gnomAD v4
15g.42729112C>GCA392037284CDAN1c.2556G>C (p.Gln852His)
c.*1734G>C (n.*1734G>C)
c.549G>C (p.Gln183His)
c.2559G>C (p.Gln853His)
c.2583G>C (p.Gln861His)
c.2580G>C (p.Gln860His)
c.1548G>C (p.Gln516His)
c.1800G>C (p.Gln600His)
n.2613G>C
 gnomAD v4
15g.42729112C>TCA490001986CDAN1c.2556G>A (p.Gln852=)
c.*1734G>A (n.*1734G>A)
c.549G>A (p.Gln183=)
c.2559G>A (p.Gln853=)
c.2583G>A (p.Gln861=)
c.2580G>A (p.Gln860=)
c.1548G>A (p.Gln516=)
c.1800G>A (p.Gln600=)
n.2613G>A
15g.42729113T>ACA392037287CDAN1c.2555A>T (p.Gln852Leu)
c.*1733A>T (n.*1733A>T)
c.548A>T (p.Gln183Leu)
c.2558A>T (p.Gln853Leu)
c.2582A>T (p.Gln861Leu)
c.2579A>T (p.Gln860Leu)
c.1547A>T (p.Gln516Leu)
c.1799A>T (p.Gln600Leu)
n.2612A>T
15g.42729113T>CCA392037289CDAN1c.2555A>G (p.Gln852Arg)
c.*1733A>G (n.*1733A>G)
c.548A>G (p.Gln183Arg)
c.2558A>G (p.Gln853Arg)
c.2582A>G (p.Gln861Arg)
c.2579A>G (p.Gln860Arg)
c.1547A>G (p.Gln516Arg)
c.1799A>G (p.Gln600Arg)
n.2612A>G
 gnomAD v4
15g.42729113T>GCA392037291CDAN1c.2555A>C (p.Gln852Pro)
c.*1733A>C (n.*1733A>C)
c.548A>C (p.Gln183Pro)
c.2558A>C (p.Gln853Pro)
c.2582A>C (p.Gln861Pro)
c.2579A>C (p.Gln860Pro)
c.1547A>C (p.Gln516Pro)
c.1799A>C (p.Gln600Pro)
n.2612A>C
15g.42729114G>ACA392037293CDAN1c.2554C>T (p.Gln852Ter)
c.*1732C>T (n.*1732C>T)
c.547C>T (p.Gln183Ter)
c.2557C>T (p.Gln853Ter)
c.2581C>T (p.Gln861Ter)
c.2578C>T (p.Gln860Ter)
c.1546C>T (p.Gln516Ter)
c.1798C>T (p.Gln600Ter)
n.2611C>T
 dbSNP gnomAD v4
15g.42729114G>CCA392037295CDAN1c.2554C>G (p.Gln852Glu)
c.*1732C>G (n.*1732C>G)
c.547C>G (p.Gln183Glu)
c.2557C>G (p.Gln853Glu)
c.2581C>G (p.Gln861Glu)
c.2578C>G (p.Gln860Glu)
c.1546C>G (p.Gln516Glu)
c.1798C>G (p.Gln600Glu)
n.2611C>G
15g.42729114G=CA2172869216CDAN1c.2554C= (p.Gln852=)
c.*1732C= (n.*1732C=)
c.547C= (p.Gln183=)
c.2557C= (p.Gln853=)
c.2581C= (p.Gln861=)
c.2578C= (p.Gln860=)
c.1546C= (p.Gln516=)
c.1798C= (p.Gln600=)
n.2611C=
15g.42729114G>TCA392037298CDAN1c.2554C>A (p.Gln852Lys)
c.*1732C>A (n.*1732C>A)
c.547C>A (p.Gln183Lys)
c.2557C>A (p.Gln853Lys)
c.2581C>A (p.Gln861Lys)
c.2578C>A (p.Gln860Lys)
c.1546C>A (p.Gln516Lys)
c.1798C>A (p.Gln600Lys)
n.2611C>A
15g.42729115G>ACA490001987CDAN1c.2553C>T (p.Ala851=)
c.*1731C>T (n.*1731C>T)
c.546C>T (p.Ala182=)
c.2556C>T (p.Ala852=)
c.2580C>T (p.Ala860=)
c.2577C>T (p.Ala859=)
c.1545C>T (p.Ala515=)
c.1797C>T (p.Ala599=)
n.2610C>T
15g.42729115G>CCA7515575CDAN1c.2553C>G (p.Ala851=)
c.*1731C>G (n.*1731C>G)
c.546C>G (p.Ala182=)
c.2556C>G (p.Ala852=)
c.2580C>G (p.Ala860=)
c.2577C>G (p.Ala859=)
c.1545C>G (p.Ala515=)
c.1797C>G (p.Ala599=)
n.2610C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729115G=CA2172869217CDAN1c.2553C= (p.Ala851=)
c.*1731C= (n.*1731C=)
c.546C= (p.Ala182=)
c.2556C= (p.Ala852=)
c.2580C= (p.Ala860=)
c.2577C= (p.Ala859=)
c.1545C= (p.Ala515=)
c.1797C= (p.Ala599=)
n.2610C=
15g.42729115G>TCA490001988CDAN1c.2553C>A (p.Ala851=)
c.*1731C>A (n.*1731C>A)
c.546C>A (p.Ala182=)
c.2556C>A (p.Ala852=)
c.2580C>A (p.Ala860=)
c.2577C>A (p.Ala859=)
c.1545C>A (p.Ala515=)
c.1797C>A (p.Ala599=)
n.2610C>A
15g.42729116G>ACA7515576CDAN1c.2552C>T (p.Ala851Val)
c.*1730C>T (n.*1730C>T)
c.545C>T (p.Ala182Val)
c.2555C>T (p.Ala852Val)
c.2579C>T (p.Ala860Val)
c.2576C>T (p.Ala859Val)
c.1544C>T (p.Ala515Val)
c.1796C>T (p.Ala599Val)
n.2609C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729116G>CCA392037308CDAN1c.2552C>G (p.Ala851Gly)
c.*1730C>G (n.*1730C>G)
c.545C>G (p.Ala182Gly)
c.2555C>G (p.Ala852Gly)
c.2579C>G (p.Ala860Gly)
c.2576C>G (p.Ala859Gly)
c.1544C>G (p.Ala515Gly)
c.1796C>G (p.Ala599Gly)
n.2609C>G
15g.42729116G=CA2172869218CDAN1c.2552C= (p.Ala851=)
c.*1730C= (n.*1730C=)
c.545C= (p.Ala182=)
c.2555C= (p.Ala852=)
c.2579C= (p.Ala860=)
c.2576C= (p.Ala859=)
c.1544C= (p.Ala515=)
c.1796C= (p.Ala599=)
n.2609C=
15g.42729116G>TCA392037305CDAN1c.2552C>A (p.Ala851Asp)
c.*1730C>A (n.*1730C>A)
c.545C>A (p.Ala182Asp)
c.2555C>A (p.Ala852Asp)
c.2579C>A (p.Ala860Asp)
c.2576C>A (p.Ala859Asp)
c.1544C>A (p.Ala515Asp)
c.1796C>A (p.Ala599Asp)
n.2609C>A
15g.42729117C>ACA392037310CDAN1c.2551G>T (p.Ala851Ser)
c.*1729G>T (n.*1729G>T)
c.544G>T (p.Ala182Ser)
c.2554G>T (p.Ala852Ser)
c.2578G>T (p.Ala860Ser)
c.2575G>T (p.Ala859Ser)
c.1543G>T (p.Ala515Ser)
c.1795G>T (p.Ala599Ser)
n.2608G>T
 dbSNP gnomAD v2
15g.42729117C=CA2172869219CDAN1c.2551G= (p.Ala851=)
c.*1729G= (n.*1729G=)
c.544G= (p.Ala182=)
c.2554G= (p.Ala852=)
c.2578G= (p.Ala860=)
c.2575G= (p.Ala859=)
c.1543G= (p.Ala515=)
c.1795G= (p.Ala599=)
n.2608G=
15g.42729117C>GCA392037314CDAN1c.2551G>C (p.Ala851Pro)
c.*1729G>C (n.*1729G>C)
c.544G>C (p.Ala182Pro)
c.2554G>C (p.Ala852Pro)
c.2578G>C (p.Ala860Pro)
c.2575G>C (p.Ala859Pro)
c.1543G>C (p.Ala515Pro)
c.1795G>C (p.Ala599Pro)
n.2608G>C
 gnomAD v4
15g.42729117C>TCA7515577CDAN1c.2551G>A (p.Ala851Thr)
c.*1729G>A (n.*1729G>A)
c.544G>A (p.Ala182Thr)
c.2554G>A (p.Ala852Thr)
c.2578G>A (p.Ala860Thr)
c.2575G>A (p.Ala859Thr)
c.1543G>A (p.Ala515Thr)
c.1795G>A (p.Ala599Thr)
n.2608G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729118G>ACA7515578CDAN1c.2550C>T (p.Leu850=)
c.*1728C>T (n.*1728C>T)
c.543C>T (p.Leu181=)
c.2553C>T (p.Leu851=)
c.2577C>T (p.Leu859=)
c.2574C>T (p.Leu858=)
c.1542C>T (p.Leu514=)
c.1794C>T (p.Leu598=)
n.2607C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729118G>CCA490001990CDAN1c.2550C>G (p.Leu850=)
c.*1728C>G (n.*1728C>G)
c.543C>G (p.Leu181=)
c.2553C>G (p.Leu851=)
c.2577C>G (p.Leu859=)
c.2574C>G (p.Leu858=)
c.1542C>G (p.Leu514=)
c.1794C>G (p.Leu598=)
n.2607C>G
 gnomAD v4
15g.42729118G=CA2172869220CDAN1c.2550C= (p.Leu850=)
c.*1728C= (n.*1728C=)
c.543C= (p.Leu181=)
c.2553C= (p.Leu851=)
c.2577C= (p.Leu859=)
c.2574C= (p.Leu858=)
c.1542C= (p.Leu514=)
c.1794C= (p.Leu598=)
n.2607C=
15g.42729118G>TCA269903032CDAN1c.2550C>A (p.Leu850=)
c.*1728C>A (n.*1728C>A)
c.543C>A (p.Leu181=)
c.2553C>A (p.Leu851=)
c.2577C>A (p.Leu859=)
c.2574C>A (p.Leu858=)
c.1542C>A (p.Leu514=)
c.1794C>A (p.Leu598=)
n.2607C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42729119A>CCA392037319CDAN1c.2549T>G (p.Leu850Arg)
c.*1727T>G (n.*1727T>G)
c.542T>G (p.Leu181Arg)
c.2552T>G (p.Leu851Arg)
c.2576T>G (p.Leu859Arg)
c.2573T>G (p.Leu858Arg)
c.1541T>G (p.Leu514Arg)
c.1793T>G (p.Leu598Arg)
n.2606T>G
15g.42729119A>GCA392037323CDAN1c.2549T>C (p.Leu850Pro)
c.*1727T>C (n.*1727T>C)
c.542T>C (p.Leu181Pro)
c.2552T>C (p.Leu851Pro)
c.2576T>C (p.Leu859Pro)
c.2573T>C (p.Leu858Pro)
c.1541T>C (p.Leu514Pro)
c.1793T>C (p.Leu598Pro)
n.2606T>C
15g.42729119A>TCA392037324CDAN1c.2549T>A (p.Leu850His)
c.*1727T>A (n.*1727T>A)
c.542T>A (p.Leu181His)
c.2552T>A (p.Leu851His)
c.2576T>A (p.Leu859His)
c.2573T>A (p.Leu858His)
c.1541T>A (p.Leu514His)
c.1793T>A (p.Leu598His)
n.2606T>A
15g.42729120G>ACA392037327CDAN1c.2548C>T (p.Leu850Phe)
c.*1726C>T (n.*1726C>T)
c.541C>T (p.Leu181Phe)
c.2551C>T (p.Leu851Phe)
c.2575C>T (p.Leu859Phe)
c.2572C>T (p.Leu858Phe)
c.1540C>T (p.Leu514Phe)
c.1792C>T (p.Leu598Phe)
n.2605C>T
15g.42729120G>CCA392037328CDAN1c.2548C>G (p.Leu850Val)
c.*1726C>G (n.*1726C>G)
c.541C>G (p.Leu181Val)
c.2551C>G (p.Leu851Val)
c.2575C>G (p.Leu859Val)
c.2572C>G (p.Leu858Val)
c.1540C>G (p.Leu514Val)
c.1792C>G (p.Leu598Val)
n.2605C>G
15g.42729120G>TCA392037330CDAN1c.2548C>A (p.Leu850Ile)
c.*1726C>A (n.*1726C>A)
c.541C>A (p.Leu181Ile)
c.2551C>A (p.Leu851Ile)
c.2575C>A (p.Leu859Ile)
c.2572C>A (p.Leu858Ile)
c.1540C>A (p.Leu514Ile)
c.1792C>A (p.Leu598Ile)
n.2605C>A
15g.42729121C>ACA392037331CDAN1c.2547G>T (p.Gln849His)
c.*1725G>T (n.*1725G>T)
c.540G>T (p.Gln180His)
c.2550G>T (p.Gln850His)
c.2574G>T (p.Gln858His)
c.2571G>T (p.Gln857His)
c.1539G>T (p.Gln513His)
c.1791G>T (p.Gln597His)
n.2604G>T
15g.42729121C>GCA392037332CDAN1c.2547G>C (p.Gln849His)
c.*1725G>C (n.*1725G>C)
c.540G>C (p.Gln180His)
c.2550G>C (p.Gln850His)
c.2574G>C (p.Gln858His)
c.2571G>C (p.Gln857His)
c.1539G>C (p.Gln513His)
c.1791G>C (p.Gln597His)
n.2604G>C
15g.42729121C>TCA490001994CDAN1c.2547G>A (p.Gln849=)
c.*1725G>A (n.*1725G>A)
c.540G>A (p.Gln180=)
c.2550G>A (p.Gln850=)
c.2574G>A (p.Gln858=)
c.2571G>A (p.Gln857=)
c.1539G>A (p.Gln513=)
c.1791G>A (p.Gln597=)
n.2604G>A
15g.42729122T>ACA392037340CDAN1c.2546A>T (p.Gln849Leu)
c.*1724A>T (n.*1724A>T)
c.539A>T (p.Gln180Leu)
c.2549A>T (p.Gln850Leu)
c.2573A>T (p.Gln858Leu)
c.2570A>T (p.Gln857Leu)
c.1538A>T (p.Gln513Leu)
c.1790A>T (p.Gln597Leu)
n.2603A>T
15g.42729122T>CCA392037335CDAN1c.2546A>G (p.Gln849Arg)
c.*1724A>G (n.*1724A>G)
c.539A>G (p.Gln180Arg)
c.2549A>G (p.Gln850Arg)
c.2573A>G (p.Gln858Arg)
c.2570A>G (p.Gln857Arg)
c.1538A>G (p.Gln513Arg)
c.1790A>G (p.Gln597Arg)
n.2603A>G
15g.42729122T>GCA392037338CDAN1c.2546A>C (p.Gln849Pro)
c.*1724A>C (n.*1724A>C)
c.539A>C (p.Gln180Pro)
c.2549A>C (p.Gln850Pro)
c.2573A>C (p.Gln858Pro)
c.2570A>C (p.Gln857Pro)
c.1538A>C (p.Gln513Pro)
c.1790A>C (p.Gln597Pro)
n.2603A>C
 gnomAD v4
15g.42729123G>ACA392037342CDAN1c.2545C>T (p.Gln849Ter)
c.*1723C>T (n.*1723C>T)
c.538C>T (p.Gln180Ter)
c.2548C>T (p.Gln850Ter)
c.2572C>T (p.Gln858Ter)
c.2569C>T (p.Gln857Ter)
c.1537C>T (p.Gln513Ter)
c.1789C>T (p.Gln597Ter)
n.2602C>T
15g.42729123G>CCA392037344CDAN1c.2545C>G (p.Gln849Glu)
c.*1723C>G (n.*1723C>G)
c.538C>G (p.Gln180Glu)
c.2548C>G (p.Gln850Glu)
c.2572C>G (p.Gln858Glu)
c.2569C>G (p.Gln857Glu)
c.1537C>G (p.Gln513Glu)
c.1789C>G (p.Gln597Glu)
n.2602C>G
15g.42729123G>TCA392037346CDAN1c.2545C>A (p.Gln849Lys)
c.*1723C>A (n.*1723C>A)
c.538C>A (p.Gln180Lys)
c.2548C>A (p.Gln850Lys)
c.2572C>A (p.Gln858Lys)
c.2569C>A (p.Gln857Lys)
c.1537C>A (p.Gln513Lys)
c.1789C>A (p.Gln597Lys)
n.2602C>A
 gnomAD v4
15g.42729124T>ACA490001996CDAN1c.2544A>T (p.Ala848=)
c.*1722A>T (n.*1722A>T)
c.537A>T (p.Ala179=)
c.2547A>T (p.Ala849=)
c.2571A>T (p.Ala857=)
c.2568A>T (p.Ala856=)
c.1536A>T (p.Ala512=)
c.1788A>T (p.Ala596=)
n.2601A>T
15g.42729124T>CCA490001997CDAN1c.2544A>G (p.Ala848=)
c.*1722A>G (n.*1722A>G)
c.537A>G (p.Ala179=)
c.2547A>G (p.Ala849=)
c.2571A>G (p.Ala857=)
c.2568A>G (p.Ala856=)
c.1536A>G (p.Ala512=)
c.1788A>G (p.Ala596=)
n.2601A>G
15g.42729124T>GCA490001998CDAN1c.2544A>C (p.Ala848=)
c.*1722A>C (n.*1722A>C)
c.537A>C (p.Ala179=)
c.2547A>C (p.Ala849=)
c.2571A>C (p.Ala857=)
c.2568A>C (p.Ala856=)
c.1536A>C (p.Ala512=)
c.1788A>C (p.Ala596=)
n.2601A>C
15g.42729125G>ACA392037349CDAN1c.2543C>T (p.Ala848Val)
c.*1721C>T (n.*1721C>T)
c.536C>T (p.Ala179Val)
c.2546C>T (p.Ala849Val)
c.2570C>T (p.Ala857Val)
c.2567C>T (p.Ala856Val)
c.1535C>T (p.Ala512Val)
c.1787C>T (p.Ala596Val)
n.2600C>T
 gnomAD v4
15g.42729125G>CCA392037351CDAN1c.2543C>G (p.Ala848Gly)
c.*1721C>G (n.*1721C>G)
c.536C>G (p.Ala179Gly)
c.2546C>G (p.Ala849Gly)
c.2570C>G (p.Ala857Gly)
c.2567C>G (p.Ala856Gly)
c.1535C>G (p.Ala512Gly)
c.1787C>G (p.Ala596Gly)
n.2600C>G
15g.42729125G>TCA392037353CDAN1c.2543C>A (p.Ala848Glu)
c.*1721C>A (n.*1721C>A)
c.536C>A (p.Ala179Glu)
c.2546C>A (p.Ala849Glu)
c.2570C>A (p.Ala857Glu)
c.2567C>A (p.Ala856Glu)
c.1535C>A (p.Ala512Glu)
c.1787C>A (p.Ala596Glu)
n.2600C>A
15g.42729126C>ACA392037355CDAN1c.2542G>T (p.Ala848Ser)
c.*1720G>T (n.*1720G>T)
c.535G>T (p.Ala179Ser)
c.2545G>T (p.Ala849Ser)
c.2569G>T (p.Ala857Ser)
c.2566G>T (p.Ala856Ser)
c.1534G>T (p.Ala512Ser)
c.1786G>T (p.Ala596Ser)
n.2599G>T
 ClinVar
15g.42729126C>GCA392037357CDAN1c.2542G>C (p.Ala848Pro)
c.*1720G>C (n.*1720G>C)
c.535G>C (p.Ala179Pro)
c.2545G>C (p.Ala849Pro)
c.2569G>C (p.Ala857Pro)
c.2566G>C (p.Ala856Pro)
c.1534G>C (p.Ala512Pro)
c.1786G>C (p.Ala596Pro)
n.2599G>C
15g.42729126C>TCA392037359CDAN1c.2542G>A (p.Ala848Thr)
c.*1720G>A (n.*1720G>A)
c.535G>A (p.Ala179Thr)
c.2545G>A (p.Ala849Thr)
c.2569G>A (p.Ala857Thr)
c.2566G>A (p.Ala856Thr)
c.1534G>A (p.Ala512Thr)
c.1786G>A (p.Ala596Thr)
n.2599G>A
15g.42729127C>ACA392037361CDAN1c.2542-1G>T (n.2542-1G>T)
c.*1720-1G>T (n.*1720-1G>T)
c.535-1G>T (n.535-1G>T)
c.2545-1G>T (n.2545-1G>T)
c.2569-1G>T (n.2569-1G>T)
c.2566-1G>T (n.2566-1G>T)
c.1534-1G>T (n.1534-1G>T)
c.1786-1G>T (n.1786-1G>T)
n.2599-1G>T
15g.42729127C>GCA392037363CDAN1c.2542-1G>C (n.2542-1G>C)
c.*1720-1G>C (n.*1720-1G>C)
c.535-1G>C (n.535-1G>C)
c.2545-1G>C (n.2545-1G>C)
c.2569-1G>C (n.2569-1G>C)
c.2566-1G>C (n.2566-1G>C)
c.1534-1G>C (n.1534-1G>C)
c.1786-1G>C (n.1786-1G>C)
n.2599-1G>C
15g.42729127C>TCA392037365CDAN1c.2542-1G>A (n.2542-1G>A)
c.*1720-1G>A (n.*1720-1G>A)
c.535-1G>A (n.535-1G>A)
c.2545-1G>A (n.2545-1G>A)
c.2569-1G>A (n.2569-1G>A)
c.2566-1G>A (n.2566-1G>A)
c.1534-1G>A (n.1534-1G>A)
c.1786-1G>A (n.1786-1G>A)
n.2599-1G>A
15g.42729128T>ACA392037370CDAN1c.2542-2A>T (n.2542-2A>T)
c.*1720-2A>T (n.*1720-2A>T)
c.535-2A>T (n.535-2A>T)
c.2545-2A>T (n.2545-2A>T)
c.2569-2A>T (n.2569-2A>T)
c.2566-2A>T (n.2566-2A>T)
c.1534-2A>T (n.1534-2A>T)
c.1786-2A>T (n.1786-2A>T)
n.2599-2A>T
15g.42729128T>CCA392037371CDAN1c.2542-2A>G (n.2542-2A>G)
c.*1720-2A>G (n.*1720-2A>G)
c.535-2A>G (n.535-2A>G)
c.2545-2A>G (n.2545-2A>G)
c.2569-2A>G (n.2569-2A>G)
c.2566-2A>G (n.2566-2A>G)
c.1534-2A>G (n.1534-2A>G)
c.1786-2A>G (n.1786-2A>G)
n.2599-2A>G
15g.42729128T>GCA392037367CDAN1c.2542-2A>C (n.2542-2A>C)
c.*1720-2A>C (n.*1720-2A>C)
c.535-2A>C (n.535-2A>C)
c.2545-2A>C (n.2545-2A>C)
c.2569-2A>C (n.2569-2A>C)
c.2566-2A>C (n.2566-2A>C)
c.1534-2A>C (n.1534-2A>C)
c.1786-2A>C (n.1786-2A>C)
n.2599-2A>C
15g.42729128_42729129delinsTGCA2172869221CDAN1c.2542-3_2542-2delinsCA (n.2542-3_2542-2delinsCA)
c.*1720-3_*1720-2delinsCA (n.*1720-3_*1720-2delinsCA)
c.535-3_535-2delinsCA (n.535-3_535-2delinsCA)
c.2545-3_2545-2delinsCA (n.2545-3_2545-2delinsCA)
c.2569-3_2569-2delinsCA (n.2569-3_2569-2delinsCA)
c.2566-3_2566-2delinsCA (n.2566-3_2566-2delinsCA)
c.1534-3_1534-2delinsCA (n.1534-3_1534-2delinsCA)
c.1786-3_1786-2delinsCA (n.1786-3_1786-2delinsCA)
n.2599-3_2599-2delinsCA
15g.42729129G>ACA7515581CDAN1c.2542-3C>T (n.2542-3C>T)
c.*1720-3C>T (n.*1720-3C>T)
c.535-3C>T (n.535-3C>T)
c.2545-3C>T (n.2545-3C>T)
c.2569-3C>T (n.2569-3C>T)
c.2566-3C>T (n.2566-3C>T)
c.1534-3C>T (n.1534-3C>T)
c.1786-3C>T (n.1786-3C>T)
n.2599-3C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729129G>CCA7515580CDAN1c.2542-3C>G (n.2542-3C>G)
c.*1720-3C>G (n.*1720-3C>G)
c.535-3C>G (n.535-3C>G)
c.2545-3C>G (n.2545-3C>G)
c.2569-3C>G (n.2569-3C>G)
c.2566-3C>G (n.2566-3C>G)
c.1534-3C>G (n.1534-3C>G)
c.1786-3C>G (n.1786-3C>G)
n.2599-3C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729129G=CA2172869222CDAN1c.2542-3C= (n.2542-3C=)
c.*1720-3C= (n.*1720-3C=)
c.535-3C= (n.535-3C=)
c.2545-3C= (n.2545-3C=)
c.2569-3C= (n.2569-3C=)
c.2566-3C= (n.2566-3C=)
c.1534-3C= (n.1534-3C=)
c.1786-3C= (n.1786-3C=)
n.2599-3C=
15g.42729129G>TCA7515582CDAN1c.2542-3C>A (n.2542-3C>A)
c.*1720-3C>A (n.*1720-3C>A)
c.535-3C>A (n.535-3C>A)
c.2545-3C>A (n.2545-3C>A)
c.2569-3C>A (n.2569-3C>A)
c.2566-3C>A (n.2566-3C>A)
c.1534-3C>A (n.1534-3C>A)
c.1786-3C>A (n.1786-3C>A)
n.2599-3C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729134dupCA269903053CDAN1c.2542-3dup (n.2542-3dup)
c.*1720-3dup (n.*1720-3dup)
c.535-3dup (n.535-3dup)
c.2545-3dup (n.2545-3dup)
c.2569-3dup (n.2569-3dup)
c.2566-3dup (n.2566-3dup)
c.1534-3dup (n.1534-3dup)
c.1786-3dup (n.1786-3dup)
n.2599-3dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42729134delCA7515579CDAN1c.2542-3del (n.2542-3del)
c.*1720-3del (n.*1720-3del)
c.535-3del (n.535-3del)
c.2545-3del (n.2545-3del)
c.2569-3del (n.2569-3del)
c.2566-3del (n.2566-3del)
c.1534-3del (n.1534-3del)
c.1786-3del (n.1786-3del)
n.2599-3del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729130G>ACA7515584CDAN1c.2542-4C>T (n.2542-4C>T)
c.*1720-4C>T (n.*1720-4C>T)
c.535-4C>T (n.535-4C>T)
c.2545-4C>T (n.2545-4C>T)
c.2569-4C>T (n.2569-4C>T)
c.2566-4C>T (n.2566-4C>T)
c.1534-4C>T (n.1534-4C>T)
c.1786-4C>T (n.1786-4C>T)
n.2599-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729130G>CCA7515583CDAN1c.2542-4C>G (n.2542-4C>G)
c.*1720-4C>G (n.*1720-4C>G)
c.535-4C>G (n.535-4C>G)
c.2545-4C>G (n.2545-4C>G)
c.2569-4C>G (n.2569-4C>G)
c.2566-4C>G (n.2566-4C>G)
c.1534-4C>G (n.1534-4C>G)
c.1786-4C>G (n.1786-4C>G)
n.2599-4C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729130G=CA2172869223CDAN1c.2542-4C= (n.2542-4C=)
c.*1720-4C= (n.*1720-4C=)
c.535-4C= (n.535-4C=)
c.2545-4C= (n.2545-4C=)
c.2569-4C= (n.2569-4C=)
c.2566-4C= (n.2566-4C=)
c.1534-4C= (n.1534-4C=)
c.1786-4C= (n.1786-4C=)
n.2599-4C=
15g.42729130G>TCA269903076CDAN1c.2542-4C>A (n.2542-4C>A)
c.*1720-4C>A (n.*1720-4C>A)
c.535-4C>A (n.535-4C>A)
c.2545-4C>A (n.2545-4C>A)
c.2569-4C>A (n.2569-4C>A)
c.2566-4C>A (n.2566-4C>A)
c.1534-4C>A (n.1534-4C>A)
c.1786-4C>A (n.1786-4C>A)
n.2599-4C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.42729131G>ACA7515587CDAN1c.2542-5C>T (n.2542-5C>T)
c.*1720-5C>T (n.*1720-5C>T)
c.535-5C>T (n.535-5C>T)
c.2545-5C>T (n.2545-5C>T)
c.2569-5C>T (n.2569-5C>T)
c.2566-5C>T (n.2566-5C>T)
c.1534-5C>T (n.1534-5C>T)
c.1786-5C>T (n.1786-5C>T)
n.2599-5C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729131G>CCA7515585CDAN1c.2542-5C>G (n.2542-5C>G)
c.*1720-5C>G (n.*1720-5C>G)
c.535-5C>G (n.535-5C>G)
c.2545-5C>G (n.2545-5C>G)
c.2569-5C>G (n.2569-5C>G)
c.2566-5C>G (n.2566-5C>G)
c.1534-5C>G (n.1534-5C>G)
c.1786-5C>G (n.1786-5C>G)
n.2599-5C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729131G=CA2172869224CDAN1c.2542-5C= (n.2542-5C=)
c.*1720-5C= (n.*1720-5C=)
c.535-5C= (n.535-5C=)
c.2545-5C= (n.2545-5C=)
c.2569-5C= (n.2569-5C=)
c.2566-5C= (n.2566-5C=)
c.1534-5C= (n.1534-5C=)
c.1786-5C= (n.1786-5C=)
n.2599-5C=
15g.42729131G>TCA7515586CDAN1c.2542-5C>A (n.2542-5C>A)
c.*1720-5C>A (n.*1720-5C>A)
c.535-5C>A (n.535-5C>A)
c.2545-5C>A (n.2545-5C>A)
c.2569-5C>A (n.2569-5C>A)
c.2566-5C>A (n.2566-5C>A)
c.1534-5C>A (n.1534-5C>A)
c.1786-5C>A (n.1786-5C>A)
n.2599-5C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729132G>TCA2628070889CDAN1c.2542-6C>A (n.2542-6C>A)
c.*1720-6C>A (n.*1720-6C>A)
c.535-6C>A (n.535-6C>A)
c.2545-6C>A (n.2545-6C>A)
c.2569-6C>A (n.2569-6C>A)
c.2566-6C>A (n.2566-6C>A)
c.1534-6C>A (n.1534-6C>A)
c.1786-6C>A (n.1786-6C>A)
n.2599-6C>A
 gnomAD v4
15g.42729132_42729135delinsGGGACA2172869225CDAN1c.2542-9_2542-6delinsTCCC (n.2542-9_2542-6delinsTCCC)
c.*1720-9_*1720-6delinsTCCC (n.*1720-9_*1720-6delinsTCCC)
c.535-9_535-6delinsTCCC (n.535-9_535-6delinsTCCC)
c.2545-9_2545-6delinsTCCC (n.2545-9_2545-6delinsTCCC)
c.2569-9_2569-6delinsTCCC (n.2569-9_2569-6delinsTCCC)
c.2566-9_2566-6delinsTCCC (n.2566-9_2566-6delinsTCCC)
c.1534-9_1534-6delinsTCCC (n.1534-9_1534-6delinsTCCC)
c.1786-9_1786-6delinsTCCC (n.1786-9_1786-6delinsTCCC)
n.2599-9_2599-6delinsTCCC
15g.42729133G>ACA7515589CDAN1c.2542-7C>T (n.2542-7C>T)
c.*1720-7C>T (n.*1720-7C>T)
c.535-7C>T (n.535-7C>T)
c.2545-7C>T (n.2545-7C>T)
c.2569-7C>T (n.2569-7C>T)
c.2566-7C>T (n.2566-7C>T)
c.1534-7C>T (n.1534-7C>T)
c.1786-7C>T (n.1786-7C>T)
n.2599-7C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729133G=CA2172869226CDAN1c.2542-7C= (n.2542-7C=)
c.*1720-7C= (n.*1720-7C=)
c.535-7C= (n.535-7C=)
c.2545-7C= (n.2545-7C=)
c.2569-7C= (n.2569-7C=)
c.2566-7C= (n.2566-7C=)
c.1534-7C= (n.1534-7C=)
c.1786-7C= (n.1786-7C=)
n.2599-7C=
15g.42729138_42729140delCA7515588CDAN1c.2542-9_2542-7del (n.2542-9_2542-7del)
c.*1720-9_*1720-7del (n.*1720-9_*1720-7del)
c.535-9_535-7del (n.535-9_535-7del)
c.2545-9_2545-7del (n.2545-9_2545-7del)
c.2569-9_2569-7del (n.2569-9_2569-7del)
c.2566-9_2566-7del (n.2566-9_2566-7del)
c.1534-9_1534-7del (n.1534-9_1534-7del)
c.1786-9_1786-7del (n.1786-9_1786-7del)
n.2599-9_2599-7del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729134G>ACA7515590CDAN1c.2542-8C>T (n.2542-8C>T)
c.*1720-8C>T (n.*1720-8C>T)
c.535-8C>T (n.535-8C>T)
c.2545-8C>T (n.2545-8C>T)
c.2569-8C>T (n.2569-8C>T)
c.2566-8C>T (n.2566-8C>T)
c.1534-8C>T (n.1534-8C>T)
c.1786-8C>T (n.1786-8C>T)
n.2599-8C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729134G>CCA7515591CDAN1c.2542-8C>G (n.2542-8C>G)
c.*1720-8C>G (n.*1720-8C>G)
c.535-8C>G (n.535-8C>G)
c.2545-8C>G (n.2545-8C>G)
c.2569-8C>G (n.2569-8C>G)
c.2566-8C>G (n.2566-8C>G)
c.1534-8C>G (n.1534-8C>G)
c.1786-8C>G (n.1786-8C>G)
n.2599-8C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729134G=CA2172869227CDAN1c.2542-8C= (n.2542-8C=)
c.*1720-8C= (n.*1720-8C=)
c.535-8C= (n.535-8C=)
c.2545-8C= (n.2545-8C=)
c.2569-8C= (n.2569-8C=)
c.2566-8C= (n.2566-8C=)
c.1534-8C= (n.1534-8C=)
c.1786-8C= (n.1786-8C=)
n.2599-8C=
15g.42729134G>TCA2172869228CDAN1c.2542-8C>A (n.2542-8C>A)
c.*1720-8C>A (n.*1720-8C>A)
c.535-8C>A (n.535-8C>A)
c.2545-8C>A (n.2545-8C>A)
c.2569-8C>A (n.2569-8C>A)
c.2566-8C>A (n.2566-8C>A)
c.1534-8C>A (n.1534-8C>A)
c.1786-8C>A (n.1786-8C>A)
n.2599-8C>A
 dbSNP
15g.42729135A=CA2172869229CDAN1c.2542-9T= (n.2542-9T=)
c.*1720-9T= (n.*1720-9T=)
c.535-9T= (n.535-9T=)
c.2545-9T= (n.2545-9T=)
c.2569-9T= (n.2569-9T=)
c.2566-9T= (n.2566-9T=)
c.1534-9T= (n.1534-9T=)
c.1786-9T= (n.1786-9T=)
n.2599-9T=
15g.42729135A>CCA2172869230CDAN1c.2542-9T>G (n.2542-9T>G)
c.*1720-9T>G (n.*1720-9T>G)
c.535-9T>G (n.535-9T>G)
c.2545-9T>G (n.2545-9T>G)
c.2569-9T>G (n.2569-9T>G)
c.2566-9T>G (n.2566-9T>G)
c.1534-9T>G (n.1534-9T>G)
c.1786-9T>G (n.1786-9T>G)
n.2599-9T>G
 ClinVar dbSNP gnomAD v4
15g.42729136G>ACA2628070890CDAN1c.2542-10C>T (n.2542-10C>T)
c.*1720-10C>T (n.*1720-10C>T)
c.535-10C>T (n.535-10C>T)
c.2545-10C>T (n.2545-10C>T)
c.2569-10C>T (n.2569-10C>T)
c.2566-10C>T (n.2566-10C>T)
c.1534-10C>T (n.1534-10C>T)
c.1786-10C>T (n.1786-10C>T)
n.2599-10C>T
 gnomAD v4
15g.42729137G>ACA2628070891CDAN1c.2542-11C>T (n.2542-11C>T)
c.*1720-11C>T (n.*1720-11C>T)
c.535-11C>T (n.535-11C>T)
c.2545-11C>T (n.2545-11C>T)
c.2569-11C>T (n.2569-11C>T)
c.2566-11C>T (n.2566-11C>T)
c.1534-11C>T (n.1534-11C>T)
c.1786-11C>T (n.1786-11C>T)
n.2599-11C>T
 gnomAD v4
15g.42729138A=CA2172869231CDAN1c.2542-12T= (n.2542-12T=)
c.*1720-12T= (n.*1720-12T=)
c.535-12T= (n.535-12T=)
c.2545-12T= (n.2545-12T=)
c.2569-12T= (n.2569-12T=)
c.2566-12T= (n.2566-12T=)
c.1534-12T= (n.1534-12T=)
c.1786-12T= (n.1786-12T=)
n.2599-12T=
15g.42729138A>GCA618002289CDAN1c.2542-12T>C (n.2542-12T>C)
c.*1720-12T>C (n.*1720-12T>C)
c.535-12T>C (n.535-12T>C)
c.2545-12T>C (n.2545-12T>C)
c.2569-12T>C (n.2569-12T>C)
c.2566-12T>C (n.2566-12T>C)
c.1534-12T>C (n.1534-12T>C)
c.1786-12T>C (n.1786-12T>C)
n.2599-12T>C
 dbSNP gnomAD v2 gnomAD v4
15g.42729139G>ACA618002290CDAN1c.2542-13C>T (n.2542-13C>T)
c.*1720-13C>T (n.*1720-13C>T)
c.535-13C>T (n.535-13C>T)
c.2545-13C>T (n.2545-13C>T)
c.2569-13C>T (n.2569-13C>T)
c.2566-13C>T (n.2566-13C>T)
c.1534-13C>T (n.1534-13C>T)
c.1786-13C>T (n.1786-13C>T)
n.2599-13C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42729139G=CA2172869232CDAN1c.2542-13C= (n.2542-13C=)
c.*1720-13C= (n.*1720-13C=)
c.535-13C= (n.535-13C=)
c.2545-13C= (n.2545-13C=)
c.2569-13C= (n.2569-13C=)
c.2566-13C= (n.2566-13C=)
c.1534-13C= (n.1534-13C=)
c.1786-13C= (n.1786-13C=)
n.2599-13C=
15g.42729140G>ACA2803923070CDAN1c.2542-14C>T (n.2542-14C>T)
c.*1720-14C>T (n.*1720-14C>T)
c.535-14C>T (n.535-14C>T)
c.2545-14C>T (n.2545-14C>T)
c.2569-14C>T (n.2569-14C>T)
c.2566-14C>T (n.2566-14C>T)
c.1534-14C>T (n.1534-14C>T)
c.1786-14C>T (n.1786-14C>T)
n.2599-14C>T
15g.42729141G>ACA7515592CDAN1c.2542-15C>T (n.2542-15C>T)
c.*1720-15C>T (n.*1720-15C>T)
c.535-15C>T (n.535-15C>T)
c.2545-15C>T (n.2545-15C>T)
c.2569-15C>T (n.2569-15C>T)
c.2566-15C>T (n.2566-15C>T)
c.1534-15C>T (n.1534-15C>T)
c.1786-15C>T (n.1786-15C>T)
n.2599-15C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729141G>CCA2172869234CDAN1c.2542-15C>G (n.2542-15C>G)
c.*1720-15C>G (n.*1720-15C>G)
c.535-15C>G (n.535-15C>G)
c.2545-15C>G (n.2545-15C>G)
c.2569-15C>G (n.2569-15C>G)
c.2566-15C>G (n.2566-15C>G)
c.1534-15C>G (n.1534-15C>G)
c.1786-15C>G (n.1786-15C>G)
n.2599-15C>G
 dbSNP
15g.42729141G=CA2172869233CDAN1c.2542-15C= (n.2542-15C=)
c.*1720-15C= (n.*1720-15C=)
c.535-15C= (n.535-15C=)
c.2545-15C= (n.2545-15C=)
c.2569-15C= (n.2569-15C=)
c.2566-15C= (n.2566-15C=)
c.1534-15C= (n.1534-15C=)
c.1786-15C= (n.1786-15C=)
n.2599-15C=
15g.42729143G>ACA712945534CDAN1c.2542-17C>T (n.2542-17C>T)
c.*1720-17C>T (n.*1720-17C>T)
c.535-17C>T (n.535-17C>T)
c.2545-17C>T (n.2545-17C>T)
c.2569-17C>T (n.2569-17C>T)
c.2566-17C>T (n.2566-17C>T)
c.1534-17C>T (n.1534-17C>T)
c.1786-17C>T (n.1786-17C>T)
n.2599-17C>T
 dbSNP gnomAD v4
15g.42729143G>CCA2628070892CDAN1c.2542-17C>G (n.2542-17C>G)
c.*1720-17C>G (n.*1720-17C>G)
c.535-17C>G (n.535-17C>G)
c.2545-17C>G (n.2545-17C>G)
c.2569-17C>G (n.2569-17C>G)
c.2566-17C>G (n.2566-17C>G)
c.1534-17C>G (n.1534-17C>G)
c.1786-17C>G (n.1786-17C>G)
n.2599-17C>G
 gnomAD v4
15g.42729143G=CA2172869235CDAN1c.2542-17C= (n.2542-17C=)
c.*1720-17C= (n.*1720-17C=)
c.535-17C= (n.535-17C=)
c.2545-17C= (n.2545-17C=)
c.2569-17C= (n.2569-17C=)
c.2566-17C= (n.2566-17C=)
c.1534-17C= (n.1534-17C=)
c.1786-17C= (n.1786-17C=)
n.2599-17C=
15g.42729144A=CA2172869236CDAN1c.2542-18T= (n.2542-18T=)
c.*1720-18T= (n.*1720-18T=)
c.535-18T= (n.535-18T=)
c.2545-18T= (n.2545-18T=)
c.2569-18T= (n.2569-18T=)
c.2566-18T= (n.2566-18T=)
c.1534-18T= (n.1534-18T=)
c.1786-18T= (n.1786-18T=)
n.2599-18T=
15g.42729144A>GCA2172869237CDAN1c.2542-18T>C (n.2542-18T>C)
c.*1720-18T>C (n.*1720-18T>C)
c.535-18T>C (n.535-18T>C)
c.2545-18T>C (n.2545-18T>C)
c.2569-18T>C (n.2569-18T>C)
c.2566-18T>C (n.2566-18T>C)
c.1534-18T>C (n.1534-18T>C)
c.1786-18T>C (n.1786-18T>C)
n.2599-18T>C
 dbSNP
15g.42729145G>ACA269903097CDAN1c.2542-19C>T (n.2542-19C>T)
c.*1720-19C>T (n.*1720-19C>T)
c.535-19C>T (n.535-19C>T)
c.2545-19C>T (n.2545-19C>T)
c.2569-19C>T (n.2569-19C>T)
c.2566-19C>T (n.2566-19C>T)
c.1534-19C>T (n.1534-19C>T)
c.1786-19C>T (n.1786-19C>T)
n.2599-19C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42729145G=CA2172869238CDAN1c.2542-19C= (n.2542-19C=)
c.*1720-19C= (n.*1720-19C=)
c.535-19C= (n.535-19C=)
c.2545-19C= (n.2545-19C=)
c.2569-19C= (n.2569-19C=)
c.2566-19C= (n.2566-19C=)
c.1534-19C= (n.1534-19C=)
c.1786-19C= (n.1786-19C=)
n.2599-19C=
15g.42729146G=CA2172869239CDAN1c.2542-20C= (n.2542-20C=)
c.*1720-20C= (n.*1720-20C=)
c.535-20C= (n.535-20C=)
c.2545-20C= (n.2545-20C=)
c.2569-20C= (n.2569-20C=)
c.2566-20C= (n.2566-20C=)
c.1534-20C= (n.1534-20C=)
c.1786-20C= (n.1786-20C=)
n.2599-20C=
15g.42729146G>TCA2172869240CDAN1c.2542-20C>A (n.2542-20C>A)
c.*1720-20C>A (n.*1720-20C>A)
c.535-20C>A (n.535-20C>A)
c.2545-20C>A (n.2545-20C>A)
c.2569-20C>A (n.2569-20C>A)
c.2566-20C>A (n.2566-20C>A)
c.1534-20C>A (n.1534-20C>A)
c.1786-20C>A (n.1786-20C>A)
n.2599-20C>A
 dbSNP
15g.42729147C=CA2172869241CDAN1c.2542-21G= (n.2542-21G=)
c.*1720-21G= (n.*1720-21G=)
c.535-21G= (n.535-21G=)
c.2545-21G= (n.2545-21G=)
c.2569-21G= (n.2569-21G=)
c.2566-21G= (n.2566-21G=)
c.1534-21G= (n.1534-21G=)
c.1786-21G= (n.1786-21G=)
n.2599-21G=
15g.42729147C>GCA7515593CDAN1c.2542-21G>C (n.2542-21G>C)
c.*1720-21G>C (n.*1720-21G>C)
c.535-21G>C (n.535-21G>C)
c.2545-21G>C (n.2545-21G>C)
c.2569-21G>C (n.2569-21G>C)
c.2566-21G>C (n.2566-21G>C)
c.1534-21G>C (n.1534-21G>C)
c.1786-21G>C (n.1786-21G>C)
n.2599-21G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729148dupCA2628070893CDAN1c.2542-22dup (n.2542-22dup)
c.*1720-22dup (n.*1720-22dup)
c.535-22dup (n.535-22dup)
c.2545-22dup (n.2545-22dup)
c.2569-22dup (n.2569-22dup)
c.2566-22dup (n.2566-22dup)
c.1534-22dup (n.1534-22dup)
c.1786-22dup (n.1786-22dup)
n.2599-22dup
 gnomAD v4
15g.42729149G>ACA618002291CDAN1c.2542-23C>T (n.2542-23C>T)
c.*1720-23C>T (n.*1720-23C>T)
c.535-23C>T (n.535-23C>T)
c.2545-23C>T (n.2545-23C>T)
c.2569-23C>T (n.2569-23C>T)
c.2566-23C>T (n.2566-23C>T)
c.1534-23C>T (n.1534-23C>T)
c.1786-23C>T (n.1786-23C>T)
n.2599-23C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42729149G=CA2172869242CDAN1c.2542-23C= (n.2542-23C=)
c.*1720-23C= (n.*1720-23C=)
c.535-23C= (n.535-23C=)
c.2545-23C= (n.2545-23C=)
c.2569-23C= (n.2569-23C=)
c.2566-23C= (n.2566-23C=)
c.1534-23C= (n.1534-23C=)
c.1786-23C= (n.1786-23C=)
n.2599-23C=
15g.42729150C>TCA2628070894CDAN1c.2542-24G>A (n.2542-24G>A)
c.*1720-24G>A (n.*1720-24G>A)
c.535-24G>A (n.535-24G>A)
c.2545-24G>A (n.2545-24G>A)
c.2569-24G>A (n.2569-24G>A)
c.2566-24G>A (n.2566-24G>A)
c.1534-24G>A (n.1534-24G>A)
c.1786-24G>A (n.1786-24G>A)
n.2599-24G>A
 gnomAD v4
15g.42729151A>GCA2628070895CDAN1c.2542-25T>C (n.2542-25T>C)
c.*1720-25T>C (n.*1720-25T>C)
c.535-25T>C (n.535-25T>C)
c.2545-25T>C (n.2545-25T>C)
c.2569-25T>C (n.2569-25T>C)
c.2566-25T>C (n.2566-25T>C)
c.1534-25T>C (n.1534-25T>C)
c.1786-25T>C (n.1786-25T>C)
n.2599-25T>C
 gnomAD v4
15g.42729152A=CA2172869243CDAN1c.2542-26T= (n.2542-26T=)
c.*1720-26T= (n.*1720-26T=)
c.535-26T= (n.535-26T=)
c.2545-26T= (n.2545-26T=)
c.2569-26T= (n.2569-26T=)
c.2566-26T= (n.2566-26T=)
c.1534-26T= (n.1534-26T=)
c.1786-26T= (n.1786-26T=)
n.2599-26T=
15g.42729152A>CCA618002292CDAN1c.2542-26T>G (n.2542-26T>G)
c.*1720-26T>G (n.*1720-26T>G)
c.535-26T>G (n.535-26T>G)
c.2545-26T>G (n.2545-26T>G)
c.2569-26T>G (n.2569-26T>G)
c.2566-26T>G (n.2566-26T>G)
c.1534-26T>G (n.1534-26T>G)
c.1786-26T>G (n.1786-26T>G)
n.2599-26T>G
 dbSNP gnomAD v2 gnomAD v4
15g.42729154G>ACA269903107CDAN1c.2542-28C>T (n.2542-28C>T)
c.*1720-28C>T (n.*1720-28C>T)
c.535-28C>T (n.535-28C>T)
c.2545-28C>T (n.2545-28C>T)
c.2569-28C>T (n.2569-28C>T)
c.2566-28C>T (n.2566-28C>T)
c.1534-28C>T (n.1534-28C>T)
c.1786-28C>T (n.1786-28C>T)
n.2599-28C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42729154G>CCA7515594CDAN1c.2542-28C>G (n.2542-28C>G)
c.*1720-28C>G (n.*1720-28C>G)
c.535-28C>G (n.535-28C>G)
c.2545-28C>G (n.2545-28C>G)
c.2569-28C>G (n.2569-28C>G)
c.2566-28C>G (n.2566-28C>G)
c.1534-28C>G (n.1534-28C>G)
c.1786-28C>G (n.1786-28C>G)
n.2599-28C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729154G=CA2172869244CDAN1c.2542-28C= (n.2542-28C=)
c.*1720-28C= (n.*1720-28C=)
c.535-28C= (n.535-28C=)
c.2545-28C= (n.2545-28C=)
c.2569-28C= (n.2569-28C=)
c.2566-28C= (n.2566-28C=)
c.1534-28C= (n.1534-28C=)
c.1786-28C= (n.1786-28C=)
n.2599-28C=
15g.42729154G>TCA269903106CDAN1c.2542-28C>A (n.2542-28C>A)
c.*1720-28C>A (n.*1720-28C>A)
c.535-28C>A (n.535-28C>A)
c.2545-28C>A (n.2545-28C>A)
c.2569-28C>A (n.2569-28C>A)
c.2566-28C>A (n.2566-28C>A)
c.1534-28C>A (n.1534-28C>A)
c.1786-28C>A (n.1786-28C>A)
n.2599-28C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42729155C>ACA618002293CDAN1c.2542-29G>T (n.2542-29G>T)
c.*1720-29G>T (n.*1720-29G>T)
c.535-29G>T (n.535-29G>T)
c.2545-29G>T (n.2545-29G>T)
c.2569-29G>T (n.2569-29G>T)
c.2566-29G>T (n.2566-29G>T)
c.1534-29G>T (n.1534-29G>T)
c.1786-29G>T (n.1786-29G>T)
n.2599-29G>T
 dbSNP gnomAD v2 gnomAD v4
15g.42729155C=CA2172869245CDAN1c.2542-29G= (n.2542-29G=)
c.*1720-29G= (n.*1720-29G=)
c.535-29G= (n.535-29G=)
c.2545-29G= (n.2545-29G=)
c.2569-29G= (n.2569-29G=)
c.2566-29G= (n.2566-29G=)
c.1534-29G= (n.1534-29G=)
c.1786-29G= (n.1786-29G=)
n.2599-29G=
15g.42729155C>TCA2575698383CDAN1c.2542-29G>A (n.2542-29G>A)
c.*1720-29G>A (n.*1720-29G>A)
c.535-29G>A (n.535-29G>A)
c.2545-29G>A (n.2545-29G>A)
c.2569-29G>A (n.2569-29G>A)
c.2566-29G>A (n.2566-29G>A)
c.1534-29G>A (n.1534-29G>A)
c.1786-29G>A (n.1786-29G>A)
n.2599-29G>A
15g.42729156T>GCA269903108CDAN1c.2542-30A>C (n.2542-30A>C)
c.*1720-30A>C (n.*1720-30A>C)
c.535-30A>C (n.535-30A>C)
c.2545-30A>C (n.2545-30A>C)
c.2569-30A>C (n.2569-30A>C)
c.2566-30A>C (n.2566-30A>C)
c.1534-30A>C (n.1534-30A>C)
c.1786-30A>C (n.1786-30A>C)
n.2599-30A>C
 dbSNP gnomAD v3 gnomAD v4
15g.42729156T=CA2172869246CDAN1c.2542-30A= (n.2542-30A=)
c.*1720-30A= (n.*1720-30A=)
c.535-30A= (n.535-30A=)
c.2545-30A= (n.2545-30A=)
c.2569-30A= (n.2569-30A=)
c.2566-30A= (n.2566-30A=)
c.1534-30A= (n.1534-30A=)
c.1786-30A= (n.1786-30A=)
n.2599-30A=
15g.42729157T>GCA618002294CDAN1c.2542-31A>C (n.2542-31A>C)
c.*1720-31A>C (n.*1720-31A>C)
c.535-31A>C (n.535-31A>C)
c.2545-31A>C (n.2545-31A>C)
c.2569-31A>C (n.2569-31A>C)
c.2566-31A>C (n.2566-31A>C)
c.1534-31A>C (n.1534-31A>C)
c.1786-31A>C (n.1786-31A>C)
n.2599-31A>C
 dbSNP gnomAD v2 gnomAD v4
15g.42729157T=CA2172869247CDAN1c.2542-31A= (n.2542-31A=)
c.*1720-31A= (n.*1720-31A=)
c.535-31A= (n.535-31A=)
c.2545-31A= (n.2545-31A=)
c.2569-31A= (n.2569-31A=)
c.2566-31A= (n.2566-31A=)
c.1534-31A= (n.1534-31A=)
c.1786-31A= (n.1786-31A=)
n.2599-31A=
15g.42729158C>ACA7515596CDAN1c.2542-32G>T (n.2542-32G>T)
c.*1720-32G>T (n.*1720-32G>T)
c.535-32G>T (n.535-32G>T)
c.2545-32G>T (n.2545-32G>T)
c.2569-32G>T (n.2569-32G>T)
c.2566-32G>T (n.2566-32G>T)
c.1534-32G>T (n.1534-32G>T)
c.1786-32G>T (n.1786-32G>T)
n.2599-32G>T
 dbSNP ExAC
15g.42729158C=CA2172869248CDAN1c.2542-32G= (n.2542-32G=)
c.*1720-32G= (n.*1720-32G=)
c.535-32G= (n.535-32G=)
c.2545-32G= (n.2545-32G=)
c.2569-32G= (n.2569-32G=)
c.2566-32G= (n.2566-32G=)
c.1534-32G= (n.1534-32G=)
c.1786-32G= (n.1786-32G=)
n.2599-32G=
15g.42729158C>GCA2628070897CDAN1c.2542-32G>C (n.2542-32G>C)
c.*1720-32G>C (n.*1720-32G>C)
c.535-32G>C (n.535-32G>C)
c.2545-32G>C (n.2545-32G>C)
c.2569-32G>C (n.2569-32G>C)
c.2566-32G>C (n.2566-32G>C)
c.1534-32G>C (n.1534-32G>C)
c.1786-32G>C (n.1786-32G>C)
n.2599-32G>C
 gnomAD v4
15g.42729158C>TCA7515595CDAN1c.2542-32G>A (n.2542-32G>A)
c.*1720-32G>A (n.*1720-32G>A)
c.535-32G>A (n.535-32G>A)
c.2545-32G>A (n.2545-32G>A)
c.2569-32G>A (n.2569-32G>A)
c.2566-32G>A (n.2566-32G>A)
c.1534-32G>A (n.1534-32G>A)
c.1786-32G>A (n.1786-32G>A)
n.2599-32G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729159delCA2628070896CDAN1c.2542-32del (n.2542-32del)
c.*1720-32del (n.*1720-32del)
c.535-32del (n.535-32del)
c.2545-32del (n.2545-32del)
c.2569-32del (n.2569-32del)
c.2566-32del (n.2566-32del)
c.1534-32del (n.1534-32del)
c.1786-32del (n.1786-32del)
n.2599-32del
 gnomAD v4
15g.42729158_42729160delinsCCTCA2172869249CDAN1c.2542-34_2542-32delinsAGG (n.2542-34_2542-32delinsAGG)
c.*1720-34_*1720-32delinsAGG (n.*1720-34_*1720-32delinsAGG)
c.535-34_535-32delinsAGG (n.535-34_535-32delinsAGG)
c.2545-34_2545-32delinsAGG (n.2545-34_2545-32delinsAGG)
c.2569-34_2569-32delinsAGG (n.2569-34_2569-32delinsAGG)
c.2566-34_2566-32delinsAGG (n.2566-34_2566-32delinsAGG)
c.1534-34_1534-32delinsAGG (n.1534-34_1534-32delinsAGG)
c.1786-34_1786-32delinsAGG (n.1786-34_1786-32delinsAGG)
n.2599-34_2599-32delinsAGG
15g.42729160_42729161delCA969128150CDAN1c.2542-34_2542-33del (n.2542-34_2542-33del)
c.*1720-34_*1720-33del (n.*1720-34_*1720-33del)
c.535-34_535-33del (n.535-34_535-33del)
c.2545-34_2545-33del (n.2545-34_2545-33del)
c.2569-34_2569-33del (n.2569-34_2569-33del)
c.2566-34_2566-33del (n.2566-34_2566-33del)
c.1534-34_1534-33del (n.1534-34_1534-33del)
c.1786-34_1786-33del (n.1786-34_1786-33del)
n.2599-34_2599-33del
 dbSNP gnomAD v3 gnomAD v4
15g.42729160T>ACA2575698384CDAN1c.2542-34A>T (n.2542-34A>T)
c.*1720-34A>T (n.*1720-34A>T)
c.535-34A>T (n.535-34A>T)
c.2545-34A>T (n.2545-34A>T)
c.2569-34A>T (n.2569-34A>T)
c.2566-34A>T (n.2566-34A>T)
c.1534-34A>T (n.1534-34A>T)
c.1786-34A>T (n.1786-34A>T)
n.2599-34A>T
15g.42729160T>CCA2172869251CDAN1c.2542-34A>G (n.2542-34A>G)
c.*1720-34A>G (n.*1720-34A>G)
c.535-34A>G (n.535-34A>G)
c.2545-34A>G (n.2545-34A>G)
c.2569-34A>G (n.2569-34A>G)
c.2566-34A>G (n.2566-34A>G)
c.1534-34A>G (n.1534-34A>G)
c.1786-34A>G (n.1786-34A>G)
n.2599-34A>G
 dbSNP
15g.42729160T>GCA2803923071CDAN1c.2542-34A>C (n.2542-34A>C)
c.*1720-34A>C (n.*1720-34A>C)
c.535-34A>C (n.535-34A>C)
c.2545-34A>C (n.2545-34A>C)
c.2569-34A>C (n.2569-34A>C)
c.2566-34A>C (n.2566-34A>C)
c.1534-34A>C (n.1534-34A>C)
c.1786-34A>C (n.1786-34A>C)
n.2599-34A>C
15g.42729160T=CA2172869250CDAN1c.2542-34A= (n.2542-34A=)
c.*1720-34A= (n.*1720-34A=)
c.535-34A= (n.535-34A=)
c.2545-34A= (n.2545-34A=)
c.2569-34A= (n.2569-34A=)
c.2566-34A= (n.2566-34A=)
c.1534-34A= (n.1534-34A=)
c.1786-34A= (n.1786-34A=)
n.2599-34A=
15g.42729161C>ACA2803923072CDAN1c.2542-35G>T (n.2542-35G>T)
c.*1720-35G>T (n.*1720-35G>T)
c.535-35G>T (n.535-35G>T)
c.2545-35G>T (n.2545-35G>T)
c.2569-35G>T (n.2569-35G>T)
c.2566-35G>T (n.2566-35G>T)
c.1534-35G>T (n.1534-35G>T)
c.1786-35G>T (n.1786-35G>T)
n.2599-35G>T
15g.42729161C=CA2172869252CDAN1c.2542-35G= (n.2542-35G=)
c.*1720-35G= (n.*1720-35G=)
c.535-35G= (n.535-35G=)
c.2545-35G= (n.2545-35G=)
c.2569-35G= (n.2569-35G=)
c.2566-35G= (n.2566-35G=)
c.1534-35G= (n.1534-35G=)
c.1786-35G= (n.1786-35G=)
n.2599-35G=
15g.42729161C>GCA7515597CDAN1c.2542-35G>C (n.2542-35G>C)
c.*1720-35G>C (n.*1720-35G>C)
c.535-35G>C (n.535-35G>C)
c.2545-35G>C (n.2545-35G>C)
c.2569-35G>C (n.2569-35G>C)
c.2566-35G>C (n.2566-35G>C)
c.1534-35G>C (n.1534-35G>C)
c.1786-35G>C (n.1786-35G>C)
n.2599-35G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729161_42729163delCA2628070898CDAN1c.2542-37_2542-35del (n.2542-37_2542-35del)
c.*1720-37_*1720-35del (n.*1720-37_*1720-35del)
c.535-37_535-35del (n.535-37_535-35del)
c.2545-37_2545-35del (n.2545-37_2545-35del)
c.2569-37_2569-35del (n.2569-37_2569-35del)
c.2566-37_2566-35del (n.2566-37_2566-35del)
c.1534-37_1534-35del (n.1534-37_1534-35del)
c.1786-37_1786-35del (n.1786-37_1786-35del)
n.2599-37_2599-35del
 gnomAD v4
15g.42729162C>TCA2628070899CDAN1c.2542-36G>A (n.2542-36G>A)
c.*1720-36G>A (n.*1720-36G>A)
c.535-36G>A (n.535-36G>A)
c.2545-36G>A (n.2545-36G>A)
c.2569-36G>A (n.2569-36G>A)
c.2566-36G>A (n.2566-36G>A)
c.1534-36G>A (n.1534-36G>A)
c.1786-36G>A (n.1786-36G>A)
n.2599-36G>A
 gnomAD v4
15g.42729163A=CA2172869253CDAN1c.2542-37T= (n.2542-37T=)
c.*1720-37T= (n.*1720-37T=)
c.535-37T= (n.535-37T=)
c.2545-37T= (n.2545-37T=)
c.2569-37T= (n.2569-37T=)
c.2566-37T= (n.2566-37T=)
c.1534-37T= (n.1534-37T=)
c.1786-37T= (n.1786-37T=)
n.2599-37T=
15g.42729163A>CCA7515598CDAN1c.2542-37T>G (n.2542-37T>G)
c.*1720-37T>G (n.*1720-37T>G)
c.535-37T>G (n.535-37T>G)
c.2545-37T>G (n.2545-37T>G)
c.2569-37T>G (n.2569-37T>G)
c.2566-37T>G (n.2566-37T>G)
c.1534-37T>G (n.1534-37T>G)
c.1786-37T>G (n.1786-37T>G)
n.2599-37T>G
 dbSNP ExAC gnomAD v4
15g.42729163A>GCA2628070900CDAN1c.2542-37T>C (n.2542-37T>C)
c.*1720-37T>C (n.*1720-37T>C)
c.535-37T>C (n.535-37T>C)
c.2545-37T>C (n.2545-37T>C)
c.2569-37T>C (n.2569-37T>C)
c.2566-37T>C (n.2566-37T>C)
c.1534-37T>C (n.1534-37T>C)
c.1786-37T>C (n.1786-37T>C)
n.2599-37T>C
 gnomAD v4
15g.42729163_42729164delinsAGCA2172869254CDAN1c.2542-38_2542-37delinsCT (n.2542-38_2542-37delinsCT)
c.*1720-38_*1720-37delinsCT (n.*1720-38_*1720-37delinsCT)
c.535-38_535-37delinsCT (n.535-38_535-37delinsCT)
c.2545-38_2545-37delinsCT (n.2545-38_2545-37delinsCT)
c.2569-38_2569-37delinsCT (n.2569-38_2569-37delinsCT)
c.2566-38_2566-37delinsCT (n.2566-38_2566-37delinsCT)
c.1534-38_1534-37delinsCT (n.1534-38_1534-37delinsCT)
c.1786-38_1786-37delinsCT (n.1786-38_1786-37delinsCT)
n.2599-38_2599-37delinsCT
15g.42729164delCA269903123CDAN1c.2542-38del (n.2542-38del)
c.*1720-38del (n.*1720-38del)
c.535-38del (n.535-38del)
c.2545-38del (n.2545-38del)
c.2569-38del (n.2569-38del)
c.2566-38del (n.2566-38del)
c.1534-38del (n.1534-38del)
c.1786-38del (n.1786-38del)
n.2599-38del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42729164G>ACA969128152CDAN1c.2542-38C>T (n.2542-38C>T)
c.*1720-38C>T (n.*1720-38C>T)
c.535-38C>T (n.535-38C>T)
c.2545-38C>T (n.2545-38C>T)
c.2569-38C>T (n.2569-38C>T)
c.2566-38C>T (n.2566-38C>T)
c.1534-38C>T (n.1534-38C>T)
c.1786-38C>T (n.1786-38C>T)
n.2599-38C>T
 dbSNP gnomAD v3 gnomAD v4
15g.42729164G=CA2172869255CDAN1c.2542-38C= (n.2542-38C=)
c.*1720-38C= (n.*1720-38C=)
c.535-38C= (n.535-38C=)
c.2545-38C= (n.2545-38C=)
c.2569-38C= (n.2569-38C=)
c.2566-38C= (n.2566-38C=)
c.1534-38C= (n.1534-38C=)
c.1786-38C= (n.1786-38C=)
n.2599-38C=
15g.42729164G>TCA2628070901CDAN1c.2542-38C>A (n.2542-38C>A)
c.*1720-38C>A (n.*1720-38C>A)
c.535-38C>A (n.535-38C>A)
c.2545-38C>A (n.2545-38C>A)
c.2569-38C>A (n.2569-38C>A)
c.2566-38C>A (n.2566-38C>A)
c.1534-38C>A (n.1534-38C>A)
c.1786-38C>A (n.1786-38C>A)
n.2599-38C>A
 gnomAD v4
15g.42729165C=CA2172869256CDAN1c.2542-39G= (n.2542-39G=)
c.*1720-39G= (n.*1720-39G=)
c.535-39G= (n.535-39G=)
c.2545-39G= (n.2545-39G=)
c.2569-39G= (n.2569-39G=)
c.2566-39G= (n.2566-39G=)
c.1534-39G= (n.1534-39G=)
c.1786-39G= (n.1786-39G=)
n.2599-39G=
15g.42729165C>TCA7515599CDAN1c.2542-39G>A (n.2542-39G>A)
c.*1720-39G>A (n.*1720-39G>A)
c.535-39G>A (n.535-39G>A)
c.2545-39G>A (n.2545-39G>A)
c.2569-39G>A (n.2569-39G>A)
c.2566-39G>A (n.2566-39G>A)
c.1534-39G>A (n.1534-39G>A)
c.1786-39G>A (n.1786-39G>A)
n.2599-39G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.42729166C>GCA2628070902CDAN1c.2542-40G>C (n.2542-40G>C)
c.*1720-40G>C (n.*1720-40G>C)
c.535-40G>C (n.535-40G>C)
c.2545-40G>C (n.2545-40G>C)
c.2569-40G>C (n.2569-40G>C)
c.2566-40G>C (n.2566-40G>C)
c.1534-40G>C (n.1534-40G>C)
c.1786-40G>C (n.1786-40G>C)
n.2599-40G>C
 gnomAD v4
15g.42729166C>TCA2628070903CDAN1c.2542-40G>A (n.2542-40G>A)
c.*1720-40G>A (n.*1720-40G>A)
c.535-40G>A (n.535-40G>A)
c.2545-40G>A (n.2545-40G>A)
c.2569-40G>A (n.2569-40G>A)
c.2566-40G>A (n.2566-40G>A)
c.1534-40G>A (n.1534-40G>A)
c.1786-40G>A (n.1786-40G>A)
n.2599-40G>A
 gnomAD v4
15g.42729167T>CCA712945562CDAN1c.2542-41A>G (n.2542-41A>G)
c.*1720-41A>G (n.*1720-41A>G)
c.535-41A>G (n.535-41A>G)
c.2545-41A>G (n.2545-41A>G)
c.2569-41A>G (n.2569-41A>G)
c.2566-41A>G (n.2566-41A>G)
c.1534-41A>G (n.1534-41A>G)
c.1786-41A>G (n.1786-41A>G)
n.2599-41A>G
 dbSNP gnomAD v3 gnomAD v4
15g.42729167T=CA2172869257CDAN1c.2542-41A= (n.2542-41A=)
c.*1720-41A= (n.*1720-41A=)
c.535-41A= (n.535-41A=)
c.2545-41A= (n.2545-41A=)
c.2569-41A= (n.2569-41A=)
c.2566-41A= (n.2566-41A=)
c.1534-41A= (n.1534-41A=)
c.1786-41A= (n.1786-41A=)
n.2599-41A=
15g.42729167_42729168delinsTCCA2172869258CDAN1c.2542-42_2542-41delinsGA (n.2542-42_2542-41delinsGA)
c.*1720-42_*1720-41delinsGA (n.*1720-42_*1720-41delinsGA)
c.535-42_535-41delinsGA (n.535-42_535-41delinsGA)
c.2545-42_2545-41delinsGA (n.2545-42_2545-41delinsGA)
c.2569-42_2569-41delinsGA (n.2569-42_2569-41delinsGA)
c.2566-42_2566-41delinsGA (n.2566-42_2566-41delinsGA)
c.1534-42_1534-41delinsGA (n.1534-42_1534-41delinsGA)
c.1786-42_1786-41delinsGA (n.1786-42_1786-41delinsGA)
n.2599-42_2599-41delinsGA
15g.42729168C>ACA2628070905CDAN1c.2542-42G>T (n.2542-42G>T)
c.*1720-42G>T (n.*1720-42G>T)
c.535-42G>T (n.535-42G>T)
c.2545-42G>T (n.2545-42G>T)
c.2569-42G>T (n.2569-42G>T)
c.2566-42G>T (n.2566-42G>T)
c.1534-42G>T (n.1534-42G>T)
c.1786-42G>T (n.1786-42G>T)
n.2599-42G>T
 gnomAD v4
15g.42729168C>GCA2628070906CDAN1c.2542-42G>C (n.2542-42G>C)
c.*1720-42G>C (n.*1720-42G>C)
c.535-42G>C (n.535-42G>C)
c.2545-42G>C (n.2545-42G>C)
c.2569-42G>C (n.2569-42G>C)
c.2566-42G>C (n.2566-42G>C)
c.1534-42G>C (n.1534-42G>C)
c.1786-42G>C (n.1786-42G>C)
n.2599-42G>C
 gnomAD v4
15g.42729170delCA7515600CDAN1c.2542-42del (n.2542-42del)
c.*1720-42del (n.*1720-42del)
c.535-42del (n.535-42del)
c.2545-42del (n.2545-42del)
c.2569-42del (n.2569-42del)
c.2566-42del (n.2566-42del)
c.1534-42del (n.1534-42del)
c.1786-42del (n.1786-42del)
n.2599-42del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729169_42729170delCA2628070904CDAN1c.2542-43_2542-42del (n.2542-43_2542-42del)
c.*1720-43_*1720-42del (n.*1720-43_*1720-42del)
c.535-43_535-42del (n.535-43_535-42del)
c.2545-43_2545-42del (n.2545-43_2545-42del)
c.2569-43_2569-42del (n.2569-43_2569-42del)
c.2566-43_2566-42del (n.2566-43_2566-42del)
c.1534-43_1534-42del (n.1534-43_1534-42del)
c.1786-43_1786-42del (n.1786-43_1786-42del)
n.2599-43_2599-42del
 gnomAD v4
15g.42729169C>TCA2628070907CDAN1c.2542-43G>A (n.2542-43G>A)
c.*1720-43G>A (n.*1720-43G>A)
c.535-43G>A (n.535-43G>A)
c.2545-43G>A (n.2545-43G>A)
c.2569-43G>A (n.2569-43G>A)
c.2566-43G>A (n.2566-43G>A)
c.1534-43G>A (n.1534-43G>A)
c.1786-43G>A (n.1786-43G>A)
n.2599-43G>A
 gnomAD v4
15g.42729170C>ACA2628070909CDAN1c.2542-44G>T (n.2542-44G>T)
c.*1720-44G>T (n.*1720-44G>T)
c.535-44G>T (n.535-44G>T)
c.2545-44G>T (n.2545-44G>T)
c.2569-44G>T (n.2569-44G>T)
c.2566-44G>T (n.2566-44G>T)
c.1534-44G>T (n.1534-44G>T)
c.1786-44G>T (n.1786-44G>T)
n.2599-44G>T
 gnomAD v4
15g.42729170C>TCA2628070908CDAN1c.2542-44G>A (n.2542-44G>A)
c.*1720-44G>A (n.*1720-44G>A)
c.535-44G>A (n.535-44G>A)
c.2545-44G>A (n.2545-44G>A)
c.2569-44G>A (n.2569-44G>A)
c.2566-44G>A (n.2566-44G>A)
c.1534-44G>A (n.1534-44G>A)
c.1786-44G>A (n.1786-44G>A)
n.2599-44G>A
 gnomAD v4
15g.42729171T>CCA712945565CDAN1c.2542-45A>G (n.2542-45A>G)
c.*1720-45A>G (n.*1720-45A>G)
c.535-45A>G (n.535-45A>G)
c.2545-45A>G (n.2545-45A>G)
c.2569-45A>G (n.2569-45A>G)
c.2566-45A>G (n.2566-45A>G)
c.1534-45A>G (n.1534-45A>G)
c.1786-45A>G (n.1786-45A>G)
n.2599-45A>G
 dbSNP gnomAD v4
15g.42729171T>GCA2628070910CDAN1c.2542-45A>C (n.2542-45A>C)
c.*1720-45A>C (n.*1720-45A>C)
c.535-45A>C (n.535-45A>C)
c.2545-45A>C (n.2545-45A>C)
c.2569-45A>C (n.2569-45A>C)
c.2566-45A>C (n.2566-45A>C)
c.1534-45A>C (n.1534-45A>C)
c.1786-45A>C (n.1786-45A>C)
n.2599-45A>C
 gnomAD v4
15g.42729171T=CA2172869259CDAN1c.2542-45A= (n.2542-45A=)
c.*1720-45A= (n.*1720-45A=)
c.535-45A= (n.535-45A=)
c.2545-45A= (n.2545-45A=)
c.2569-45A= (n.2569-45A=)
c.2566-45A= (n.2566-45A=)
c.1534-45A= (n.1534-45A=)
c.1786-45A= (n.1786-45A=)
n.2599-45A=
15g.42729172G>ACA618002295CDAN1c.2542-46C>T (n.2542-46C>T)
c.*1720-46C>T (n.*1720-46C>T)
c.535-46C>T (n.535-46C>T)
c.2545-46C>T (n.2545-46C>T)
c.2569-46C>T (n.2569-46C>T)
c.2566-46C>T (n.2566-46C>T)
c.1534-46C>T (n.1534-46C>T)
c.1786-46C>T (n.1786-46C>T)
n.2599-46C>T
 dbSNP gnomAD v2 gnomAD v4
15g.42729172G=CA2172869260CDAN1c.2542-46C= (n.2542-46C=)
c.*1720-46C= (n.*1720-46C=)
c.535-46C= (n.535-46C=)
c.2545-46C= (n.2545-46C=)
c.2569-46C= (n.2569-46C=)
c.2566-46C= (n.2566-46C=)
c.1534-46C= (n.1534-46C=)
c.1786-46C= (n.1786-46C=)
n.2599-46C=
15g.42729172G>TCA969128155CDAN1c.2542-46C>A (n.2542-46C>A)
c.*1720-46C>A (n.*1720-46C>A)
c.535-46C>A (n.535-46C>A)
c.2545-46C>A (n.2545-46C>A)
c.2569-46C>A (n.2569-46C>A)
c.2566-46C>A (n.2566-46C>A)
c.1534-46C>A (n.1534-46C>A)
c.1786-46C>A (n.1786-46C>A)
n.2599-46C>A
 dbSNP gnomAD v3 gnomAD v4
15g.42729173_42729174delinsTCCA2172869261CDAN1c.2542-48_2542-47delinsGA (n.2542-48_2542-47delinsGA)
c.*1720-48_*1720-47delinsGA (n.*1720-48_*1720-47delinsGA)
c.535-48_535-47delinsGA (n.535-48_535-47delinsGA)
c.2545-48_2545-47delinsGA (n.2545-48_2545-47delinsGA)
c.2569-48_2569-47delinsGA (n.2569-48_2569-47delinsGA)
c.2566-48_2566-47delinsGA (n.2566-48_2566-47delinsGA)
c.1534-48_1534-47delinsGA (n.1534-48_1534-47delinsGA)
c.1786-48_1786-47delinsGA (n.1786-48_1786-47delinsGA)
n.2599-48_2599-47delinsGA
15g.42729173_42729174insGCA2628070918CDAN1c.2542-48_2542-47insC (n.2542-48_2542-47insC)
c.*1720-48_*1720-47insC (n.*1720-48_*1720-47insC)
c.535-48_535-47insC (n.535-48_535-47insC)
c.2545-48_2545-47insC (n.2545-48_2545-47insC)
c.2569-48_2569-47insC (n.2569-48_2569-47insC)
c.2566-48_2566-47insC (n.2566-48_2566-47insC)
c.1534-48_1534-47insC (n.1534-48_1534-47insC)
c.1786-48_1786-47insC (n.1786-48_1786-47insC)
n.2599-48_2599-47insC
 gnomAD v4
15g.42729173_42729174insGCCA2628070924CDAN1c.2542-48_2542-47insGC (n.2542-48_2542-47insGC)
c.*1720-48_*1720-47insGC (n.*1720-48_*1720-47insGC)
c.535-48_535-47insGC (n.535-48_535-47insGC)
c.2545-48_2545-47insGC (n.2545-48_2545-47insGC)
c.2569-48_2569-47insGC (n.2569-48_2569-47insGC)
c.2566-48_2566-47insGC (n.2566-48_2566-47insGC)
c.1534-48_1534-47insGC (n.1534-48_1534-47insGC)
c.1786-48_1786-47insGC (n.1786-48_1786-47insGC)
n.2599-48_2599-47insGC
 gnomAD v4
15g.42729173_42729174insGCCCA2628070917CDAN1c.2542-48_2542-47insGGC (n.2542-48_2542-47insGGC)
c.*1720-48_*1720-47insGGC (n.*1720-48_*1720-47insGGC)
c.535-48_535-47insGGC (n.535-48_535-47insGGC)
c.2545-48_2545-47insGGC (n.2545-48_2545-47insGGC)
c.2569-48_2569-47insGGC (n.2569-48_2569-47insGGC)
c.2566-48_2566-47insGGC (n.2566-48_2566-47insGGC)
c.1534-48_1534-47insGGC (n.1534-48_1534-47insGGC)
c.1786-48_1786-47insGGC (n.1786-48_1786-47insGGC)
n.2599-48_2599-47insGGC
 gnomAD v4
15g.42729173_42729174insGCCCCA2803923073CDAN1c.2542-48_2542-47insGGGC (n.2542-48_2542-47insGGGC)
c.*1720-48_*1720-47insGGGC (n.*1720-48_*1720-47insGGGC)
c.535-48_535-47insGGGC (n.535-48_535-47insGGGC)
c.2545-48_2545-47insGGGC (n.2545-48_2545-47insGGGC)
c.2569-48_2569-47insGGGC (n.2569-48_2569-47insGGGC)
c.2566-48_2566-47insGGGC (n.2566-48_2566-47insGGGC)
c.1534-48_1534-47insGGGC (n.1534-48_1534-47insGGGC)
c.1786-48_1786-47insGGGC (n.1786-48_1786-47insGGGC)
n.2599-48_2599-47insGGGC
15g.42729173_42729174insGCCCCCA2628070916CDAN1c.2542-48_2542-47insGGGGC (n.2542-48_2542-47insGGGGC)
c.*1720-48_*1720-47insGGGGC (n.*1720-48_*1720-47insGGGGC)
c.535-48_535-47insGGGGC (n.535-48_535-47insGGGGC)
c.2545-48_2545-47insGGGGC (n.2545-48_2545-47insGGGGC)
c.2569-48_2569-47insGGGGC (n.2569-48_2569-47insGGGGC)
c.2566-48_2566-47insGGGGC (n.2566-48_2566-47insGGGGC)
c.1534-48_1534-47insGGGGC (n.1534-48_1534-47insGGGGC)
c.1786-48_1786-47insGGGGC (n.1786-48_1786-47insGGGGC)
n.2599-48_2599-47insGGGGC
 gnomAD v4
15g.42729174C>ACA7515602CDAN1c.2542-48G>T (n.2542-48G>T)
c.*1720-48G>T (n.*1720-48G>T)
c.535-48G>T (n.535-48G>T)
c.2545-48G>T (n.2545-48G>T)
c.2569-48G>T (n.2569-48G>T)
c.2566-48G>T (n.2566-48G>T)
c.1534-48G>T (n.1534-48G>T)
c.1786-48G>T (n.1786-48G>T)
n.2599-48G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.42729174C=CA2172869262CDAN1c.2542-48G= (n.2542-48G=)
c.*1720-48G= (n.*1720-48G=)
c.535-48G= (n.535-48G=)
c.2545-48G= (n.2545-48G=)
c.2569-48G= (n.2569-48G=)
c.2566-48G= (n.2566-48G=)
c.1534-48G= (n.1534-48G=)
c.1786-48G= (n.1786-48G=)
n.2599-48G=
15g.42729174C>GCA2628070913CDAN1c.2542-48G>C (n.2542-48G>C)
c.*1720-48G>C (n.*1720-48G>C)
c.535-48G>C (n.535-48G>C)
c.2545-48G>C (n.2545-48G>C)
c.2569-48G>C (n.2569-48G>C)
c.2566-48G>C (n.2566-48G>C)
c.1534-48G>C (n.1534-48G>C)
c.1786-48G>C (n.1786-48G>C)
n.2599-48G>C
 gnomAD v4
15g.42729174C>TCA2628070912CDAN1c.2542-48G>A (n.2542-48G>A)
c.*1720-48G>A (n.*1720-48G>A)
c.535-48G>A (n.535-48G>A)
c.2545-48G>A (n.2545-48G>A)
c.2569-48G>A (n.2569-48G>A)
c.2566-48G>A (n.2566-48G>A)
c.1534-48G>A (n.1534-48G>A)
c.1786-48G>A (n.1786-48G>A)
n.2599-48G>A
 gnomAD v4
15g.42729174_42729177delCA2628070915CDAN1c.2542-51_2542-48del (n.2542-51_2542-48del)
c.*1720-51_*1720-48del (n.*1720-51_*1720-48del)
c.535-51_535-48del (n.535-51_535-48del)
c.2545-51_2545-48del (n.2545-51_2545-48del)
c.2569-51_2569-48del (n.2569-51_2569-48del)
c.2566-51_2566-48del (n.2566-51_2566-48del)
c.1534-51_1534-48del (n.1534-51_1534-48del)
c.1786-51_1786-48del (n.1786-51_1786-48del)
n.2599-51_2599-48del
 gnomAD v4
15g.42729177_42729178insCCCCCCCCCCCCA2628070920CDAN1c.2542-48_2542-47insGGGGGGGGGGG (n.2542-48_2542-47insGGGGGGGGGGG)
c.*1720-48_*1720-47insGGGGGGGGGGG (n.*1720-48_*1720-47insGGGGGGGGGGG)
c.535-48_535-47insGGGGGGGGGGG (n.535-48_535-47insGGGGGGGGGGG)
c.2545-48_2545-47insGGGGGGGGGGG (n.2545-48_2545-47insGGGGGGGGGGG)
c.2569-48_2569-47insGGGGGGGGGGG (n.2569-48_2569-47insGGGGGGGGGGG)
c.2566-48_2566-47insGGGGGGGGGGG (n.2566-48_2566-47insGGGGGGGGGGG)
c.1534-48_1534-47insGGGGGGGGGGG (n.1534-48_1534-47insGGGGGGGGGGG)
c.1786-48_1786-47insGGGGGGGGGGG (n.1786-48_1786-47insGGGGGGGGGGG)
n.2599-48_2599-47insGGGGGGGGGGG
 gnomAD v4
15g.42729177_42729178insCCCCCCCACCCCCA2628070921CDAN1c.2542-48_2542-47insTGGGGGGGGGGG (n.2542-48_2542-47insTGGGGGGGGGGG)
c.*1720-48_*1720-47insTGGGGGGGGGGG (n.*1720-48_*1720-47insTGGGGGGGGGGG)
c.535-48_535-47insTGGGGGGGGGGG (n.535-48_535-47insTGGGGGGGGGGG)
c.2545-48_2545-47insTGGGGGGGGGGG (n.2545-48_2545-47insTGGGGGGGGGGG)
c.2569-48_2569-47insTGGGGGGGGGGG (n.2569-48_2569-47insTGGGGGGGGGGG)
c.2566-48_2566-47insTGGGGGGGGGGG (n.2566-48_2566-47insTGGGGGGGGGGG)
c.1534-48_1534-47insTGGGGGGGGGGG (n.1534-48_1534-47insTGGGGGGGGGGG)
c.1786-48_1786-47insTGGGGGGGGGGG (n.1786-48_1786-47insTGGGGGGGGGGG)
n.2599-48_2599-47insTGGGGGGGGGGG
 gnomAD v4
15g.42729177_42729178insCCCCCCCCCCCCCA2628070922CDAN1c.2542-48_2542-47insGGGGGGGGGGGG (n.2542-48_2542-47insGGGGGGGGGGGG)
c.*1720-48_*1720-47insGGGGGGGGGGGG (n.*1720-48_*1720-47insGGGGGGGGGGGG)
c.535-48_535-47insGGGGGGGGGGGG (n.535-48_535-47insGGGGGGGGGGGG)
c.2545-48_2545-47insGGGGGGGGGGGG (n.2545-48_2545-47insGGGGGGGGGGGG)
c.2569-48_2569-47insGGGGGGGGGGGG (n.2569-48_2569-47insGGGGGGGGGGGG)
c.2566-48_2566-47insGGGGGGGGGGGG (n.2566-48_2566-47insGGGGGGGGGGGG)
c.1534-48_1534-47insGGGGGGGGGGGG (n.1534-48_1534-47insGGGGGGGGGGGG)
c.1786-48_1786-47insGGGGGGGGGGGG (n.1786-48_1786-47insGGGGGGGGGGGG)
n.2599-48_2599-47insGGGGGGGGGGGG
 gnomAD v4
15g.42729177_42729178insCCCCCCCCCCCCCCA2628070923CDAN1c.2542-48_2542-47insGGGGGGGGGGGGG (n.2542-48_2542-47insGGGGGGGGGGGGG)
c.*1720-48_*1720-47insGGGGGGGGGGGGG (n.*1720-48_*1720-47insGGGGGGGGGGGGG)
c.535-48_535-47insGGGGGGGGGGGGG (n.535-48_535-47insGGGGGGGGGGGGG)
c.2545-48_2545-47insGGGGGGGGGGGGG (n.2545-48_2545-47insGGGGGGGGGGGGG)
c.2569-48_2569-47insGGGGGGGGGGGGG (n.2569-48_2569-47insGGGGGGGGGGGGG)
c.2566-48_2566-47insGGGGGGGGGGGGG (n.2566-48_2566-47insGGGGGGGGGGGGG)
c.1534-48_1534-47insGGGGGGGGGGGGG (n.1534-48_1534-47insGGGGGGGGGGGGG)
c.1786-48_1786-47insGGGGGGGGGGGGG (n.1786-48_1786-47insGGGGGGGGGGGGG)
n.2599-48_2599-47insGGGGGGGGGGGGG
 gnomAD v4
15g.42729177_42729178insCCCCCCCACCCCCCCCCAAATTACCCCCCCA2803923074CDAN1c.2542-48_2542-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.2542-48_2542-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
c.*1720-48_*1720-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.*1720-48_*1720-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
c.535-48_535-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.535-48_535-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
c.2545-48_2545-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.2545-48_2545-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
c.2569-48_2569-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.2569-48_2569-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
c.2566-48_2566-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.2566-48_2566-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
c.1534-48_1534-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.1534-48_1534-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
c.1786-48_1786-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG (n.1786-48_1786-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG)
n.2599-48_2599-47insGGTAATTTGGGGGGGGGTGGGGGGGGGGG
15g.42729177dupCA618002296CDAN1c.2542-48dup (n.2542-48dup)
c.*1720-48dup (n.*1720-48dup)
c.535-48dup (n.535-48dup)
c.2545-48dup (n.2545-48dup)
c.2569-48dup (n.2569-48dup)
c.2566-48dup (n.2566-48dup)
c.1534-48dup (n.1534-48dup)
c.1786-48dup (n.1786-48dup)
n.2599-48dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.42729176_42729177dupCA2628070919CDAN1c.2542-49_2542-48dup (n.2542-49_2542-48dup)
c.*1720-49_*1720-48dup (n.*1720-49_*1720-48dup)
c.535-49_535-48dup (n.535-49_535-48dup)
c.2545-49_2545-48dup (n.2545-49_2545-48dup)
c.2569-49_2569-48dup (n.2569-49_2569-48dup)
c.2566-49_2566-48dup (n.2566-49_2566-48dup)
c.1534-49_1534-48dup (n.1534-49_1534-48dup)
c.1786-49_1786-48dup (n.1786-49_1786-48dup)
n.2599-49_2599-48dup
 gnomAD v4
15g.42729177delCA7515601CDAN1c.2542-48del (n.2542-48del)
c.*1720-48del (n.*1720-48del)
c.535-48del (n.535-48del)
c.2545-48del (n.2545-48del)
c.2569-48del (n.2569-48del)
c.2566-48del (n.2566-48del)
c.1534-48del (n.1534-48del)
c.1786-48del (n.1786-48del)
n.2599-48del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.42729178_42729183delCA2628070914CDAN1c.2541+50_2542-48del (n.2541+50_2542-48del)
c.*1719+50_*1720-48del (n.*1719+50_*1720-48del)
c.534+50_535-48del (n.534+50_535-48del)
c.2544+50_2545-48del (n.2544+50_2545-48del)
c.2568+50_2569-48del (n.2568+50_2569-48del)
c.2565+50_2566-48del (n.2565+50_2566-48del)
c.1533+50_1534-48del (n.1533+50_1534-48del)
c.1785+50_1786-48del (n.1785+50_1786-48del)
n.2598+50_2599-48del
 gnomAD v4
15g.42729175C>TCA2628070927CDAN1c.2542-49G>A (n.2542-49G>A)
c.*1720-49G>A (n.*1720-49G>A)
c.535-49G>A (n.535-49G>A)
c.2545-49G>A (n.2545-49G>A)
c.2569-49G>A (n.2569-49G>A)
c.2566-49G>A (n.2566-49G>A)
c.1534-49G>A (n.1534-49G>A)
c.1786-49G>A (n.1786-49G>A)
n.2599-49G>A
 gnomAD v4
15g.42729177_42729178insCCCCCCCACCCCA2628070925CDAN1c.2542-49_2542-48insTGGGGGGGGGG (n.2542-49_2542-48insTGGGGGGGGGG)
c.*1720-49_*1720-48insTGGGGGGGGGG (n.*1720-49_*1720-48insTGGGGGGGGGG)
c.535-49_535-48insTGGGGGGGGGG (n.535-49_535-48insTGGGGGGGGGG)
c.2545-49_2545-48insTGGGGGGGGGG (n.2545-49_2545-48insTGGGGGGGGGG)
c.2569-49_2569-48insTGGGGGGGGGG (n.2569-49_2569-48insTGGGGGGGGGG)
c.2566-49_2566-48insTGGGGGGGGGG (n.2566-49_2566-48insTGGGGGGGGGG)
c.1534-49_1534-48insTGGGGGGGGGG (n.1534-49_1534-48insTGGGGGGGGGG)
c.1786-49_1786-48insTGGGGGGGGGG (n.1786-49_1786-48insTGGGGGGGGGG)
n.2599-49_2599-48insTGGGGGGGGGG
 gnomAD v4
15g.42729177_42729178insCCCCCCCACCCCCCCCCCATTTACCCCA2628070926CDAN1c.2542-49_2542-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.2542-49_2542-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
c.*1720-49_*1720-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.*1720-49_*1720-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
c.535-49_535-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.535-49_535-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
c.2545-49_2545-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.2545-49_2545-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
c.2569-49_2569-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.2569-49_2569-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
c.2566-49_2566-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.2566-49_2566-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
c.1534-49_1534-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.1534-49_1534-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
c.1786-49_1786-48insTAAATGGGGGGGGGGTGGGGGGGGGG (n.1786-49_1786-48insTAAATGGGGGGGGGGTGGGGGGGGGG)
n.2599-49_2599-48insTAAATGGGGGGGGGGTGGGGGGGGGG
 gnomAD v4

Number of alleles fetched