Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.45804210dupCA2585868986RSPH6Ac.1653+46dup (n.1653+46dup)
c.861+46dup (n.861+46dup)
 gnomAD v4
19g.45804210delCA2576820661RSPH6Ac.1653+46del (n.1653+46del)
c.861+46del (n.861+46del)
 gnomAD v4
19g.45804208C>ACA9522598RSPH6Ac.1653+44G>T (n.1653+44G>T)
c.861+44G>T (n.861+44G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804208C=CA2338614914RSPH6Ac.1653+44G= (n.1653+44G=)
c.861+44G= (n.861+44G=)
19g.45804210C>ACA2585868989RSPH6Ac.1653+42G>T (n.1653+42G>T)
c.861+42G>T (n.861+42G>T)
 gnomAD v4
19g.45804210C>TCA2585868990RSPH6Ac.1653+42G>A (n.1653+42G>A)
c.861+42G>A (n.861+42G>A)
 gnomAD v4
19g.45804210_45804211delinsCTCA2338614915RSPH6Ac.1653+41_1653+42delinsAG (n.1653+41_1653+42delinsAG)
c.861+41_861+42delinsAG (n.861+41_861+42delinsAG)
19g.45804211delCA2338614916RSPH6Ac.1653+41del (n.1653+41del)
c.861+41del (n.861+41del)
 dbSNP
19g.45804211T>CCA9522599RSPH6Ac.1653+41A>G (n.1653+41A>G)
c.861+41A>G (n.861+41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804211T=CA2338614917RSPH6Ac.1653+41A= (n.1653+41A=)
c.861+41A= (n.861+41A=)
19g.45804212G>ACA2585868991RSPH6Ac.1653+40C>T (n.1653+40C>T)
c.861+40C>T (n.861+40C>T)
 gnomAD v4
19g.45804212G>TCA2585868992RSPH6Ac.1653+40C>A (n.1653+40C>A)
c.861+40C>A (n.861+40C>A)
 gnomAD v4
19g.45804213C>ACA2585868993RSPH6Ac.1653+39G>T (n.1653+39G>T)
c.861+39G>T (n.861+39G>T)
 gnomAD v4
19g.45804213C>TCA2585868994RSPH6Ac.1653+39G>A (n.1653+39G>A)
c.861+39G>A (n.861+39G>A)
 gnomAD v4
19g.45804214T>CCA2576820663RSPH6Ac.1653+38A>G (n.1653+38A>G)
c.861+38A>G (n.861+38A>G)
19g.45804214T=CA2338614918RSPH6Ac.1653+38A= (n.1653+38A=)
c.861+38A= (n.861+38A=)
19g.45804215C=CA2338614919RSPH6Ac.1653+37G= (n.1653+37G=)
c.861+37G= (n.861+37G=)
19g.45804215C>TCA9522600RSPH6Ac.1653+37G>A (n.1653+37G>A)
c.861+37G>A (n.861+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804215_45804216dupCA406404489RSPH6Ac.1653+36_1653+37dup (n.1653+36_1653+37dup)
c.861+36_861+37dup (n.861+36_861+37dup)
 dbSNP
19g.45804216C>TCA2585868995RSPH6Ac.1653+36G>A (n.1653+36G>A)
c.861+36G>A (n.861+36G>A)
 gnomAD v4
19g.45804217T>ACA996343055RSPH6Ac.1653+35A>T (n.1653+35A>T)
c.861+35A>T (n.861+35A>T)
 dbSNP gnomAD v3 gnomAD v4
19g.45804217T>CCA2585868996RSPH6Ac.1653+35A>G (n.1653+35A>G)
c.861+35A>G (n.861+35A>G)
 gnomAD v4
19g.45804217T=CA2338614920RSPH6Ac.1653+35A= (n.1653+35A=)
c.861+35A= (n.861+35A=)
19g.45804218G>ACA2585868997RSPH6Ac.1653+34C>T (n.1653+34C>T)
c.861+34C>T (n.861+34C>T)
 gnomAD v4
19g.45804218G>TCA2576820664RSPH6Ac.1653+34C>A (n.1653+34C>A)
c.861+34C>A (n.861+34C>A)
 gnomAD v4
19g.45804219C>ACA2585868998RSPH6Ac.1653+33G>T (n.1653+33G>T)
c.861+33G>T (n.861+33G>T)
 gnomAD v4
19g.45804219C>TCA2576820665RSPH6Ac.1653+33G>A (n.1653+33G>A)
c.861+33G>A (n.861+33G>A)
 gnomAD v4
19g.45804220delCA2736078437RSPH6Ac.1653+33del (n.1653+33del)
c.861+33del (n.861+33del)
 dbSNP
19g.45804220C=CA2338614921RSPH6Ac.1653+32G= (n.1653+32G=)
c.861+32G= (n.861+32G=)
19g.45804220C>TCA9522601RSPH6Ac.1653+32G>A (n.1653+32G>A)
c.861+32G>A (n.861+32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804221G>ACA9522602RSPH6Ac.1653+31C>T (n.1653+31C>T)
c.861+31C>T (n.861+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804221G>CCA507828548RSPH6Ac.1653+31C>G (n.1653+31C>G)
c.861+31C>G (n.861+31C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.45804221G=CA2338614922RSPH6Ac.1653+31C= (n.1653+31C=)
c.861+31C= (n.861+31C=)
19g.45804221G>TCA2585868999RSPH6Ac.1653+31C>A (n.1653+31C>A)
c.861+31C>A (n.861+31C>A)
 gnomAD v4
19g.45804225G>TCA2585869000RSPH6Ac.1653+27C>A (n.1653+27C>A)
c.861+27C>A (n.861+27C>A)
 gnomAD v4
19g.45804226T>CCA882762905RSPH6Ac.1653+26A>G (n.1653+26A>G)
c.861+26A>G (n.861+26A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.45804226T=CA2338614923RSPH6Ac.1653+26A= (n.1653+26A=)
c.861+26A= (n.861+26A=)
19g.45804227G>CCA633359364RSPH6Ac.1653+25C>G (n.1653+25C>G)
c.861+25C>G (n.861+25C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.45804227G=CA2338614924RSPH6Ac.1653+25C= (n.1653+25C=)
c.861+25C= (n.861+25C=)
19g.45804227G>TCA2585869001RSPH6Ac.1653+25C>A (n.1653+25C>A)
c.861+25C>A (n.861+25C>A)
 gnomAD v4
19g.45804228A>TCA2576820666RSPH6Ac.1653+24T>A (n.1653+24T>A)
c.861+24T>A (n.861+24T>A)
19g.45804229G>ACA308996990RSPH6Ac.1653+23C>T (n.1653+23C>T)
c.861+23C>T (n.861+23C>T)
 dbSNP
19g.45804229G>CCA2585869002RSPH6Ac.1653+23C>G (n.1653+23C>G)
c.861+23C>G (n.861+23C>G)
 gnomAD v4
19g.45804229G=CA2338614925RSPH6Ac.1653+23C= (n.1653+23C=)
c.861+23C= (n.861+23C=)
19g.45804229G>TCA2576820667RSPH6Ac.1653+23C>A (n.1653+23C>A)
c.861+23C>A (n.861+23C>A)
 gnomAD v4
19g.45804230A>GCA2585869003RSPH6Ac.1653+22T>C (n.1653+22T>C)
c.861+22T>C (n.861+22T>C)
 gnomAD v4
19g.45804231G>ACA633359365RSPH6Ac.1653+21C>T (n.1653+21C>T)
c.861+21C>T (n.861+21C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45804231G>CCA2338614927RSPH6Ac.1653+21C>G (n.1653+21C>G)
c.861+21C>G (n.861+21C>G)
 dbSNP
19g.45804231G=CA2338614926RSPH6Ac.1653+21C= (n.1653+21C=)
c.861+21C= (n.861+21C=)
19g.45804231G>TCA2585869004RSPH6Ac.1653+21C>A (n.1653+21C>A)
c.861+21C>A (n.861+21C>A)
 gnomAD v4
19g.45804232G=CA2338614928RSPH6Ac.1653+20C= (n.1653+20C=)
c.861+20C= (n.861+20C=)
19g.45804232G>TCA882762911RSPH6Ac.1653+20C>A (n.1653+20C>A)
c.861+20C>A (n.861+20C>A)
 dbSNP gnomAD v4
19g.45804233C>ACA2585869005RSPH6Ac.1653+19G>T (n.1653+19G>T)
c.861+19G>T (n.861+19G>T)
 gnomAD v4
19g.45804233C=CA2338614929RSPH6Ac.1653+19G= (n.1653+19G=)
c.861+19G= (n.861+19G=)
19g.45804233C>TCA9522603RSPH6Ac.1653+19G>A (n.1653+19G>A)
c.861+19G>A (n.861+19G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804234G>ACA633359366RSPH6Ac.1653+18C>T (n.1653+18C>T)
c.861+18C>T (n.861+18C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804234G=CA2338614930RSPH6Ac.1653+18C= (n.1653+18C=)
c.861+18C= (n.861+18C=)
19g.45804234G>TCA2585869006RSPH6Ac.1653+18C>A (n.1653+18C>A)
c.861+18C>A (n.861+18C>A)
 gnomAD v4
19g.45804235G>TCA2576820668RSPH6Ac.1653+17C>A (n.1653+17C>A)
c.861+17C>A (n.861+17C>A)
19g.45804236G>CCA2576820669RSPH6Ac.1653+16C>G (n.1653+16C>G)
c.861+16C>G (n.861+16C>G)
19g.45804236G>TCA2585869007RSPH6Ac.1653+16C>A (n.1653+16C>A)
c.861+16C>A (n.861+16C>A)
 gnomAD v4
19g.45804237A>GCA2585869008RSPH6Ac.1653+15T>C (n.1653+15T>C)
c.861+15T>C (n.861+15T>C)
 gnomAD v4
19g.45804238G>CCA2576820670RSPH6Ac.1653+14C>G (n.1653+14C>G)
c.861+14C>G (n.861+14C>G)
19g.45804238G>TCA2585869009RSPH6Ac.1653+14C>A (n.1653+14C>A)
c.861+14C>A (n.861+14C>A)
 gnomAD v4
19g.45804239T>GCA2338614932RSPH6Ac.1653+13A>C (n.1653+13A>C)
c.861+13A>C (n.861+13A>C)
 dbSNP gnomAD v4
19g.45804239T=CA2338614931RSPH6Ac.1653+13A= (n.1653+13A=)
c.861+13A= (n.861+13A=)
19g.45804240C=CA2338614933RSPH6Ac.1653+12G= (n.1653+12G=)
c.861+12G= (n.861+12G=)
19g.45804240C>GCA2338614934RSPH6Ac.1653+12G>C (n.1653+12G>C)
c.861+12G>C (n.861+12G>C)
 dbSNP
19g.45804240C>TCA2338614935RSPH6Ac.1653+12G>A (n.1653+12G>A)
c.861+12G>A (n.861+12G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.45804241C=CA2338614936RSPH6Ac.1653+11G= (n.1653+11G=)
c.861+11G= (n.861+11G=)
19g.45804241C>TCA882762916RSPH6Ac.1653+11G>A (n.1653+11G>A)
c.861+11G>A (n.861+11G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.45804242C=CA2338614937RSPH6Ac.1653+10G= (n.1653+10G=)
c.861+10G= (n.861+10G=)
19g.45804242C>GCA2585869010RSPH6Ac.1653+10G>C (n.1653+10G>C)
c.861+10G>C (n.861+10G>C)
 gnomAD v4
19g.45804242C>TCA9522604RSPH6Ac.1653+10G>A (n.1653+10G>A)
c.861+10G>A (n.861+10G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804243G>ACA9522605RSPH6Ac.1653+9C>T (n.1653+9C>T)
c.861+9C>T (n.861+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804243G=CA2338614938RSPH6Ac.1653+9C= (n.1653+9C=)
c.861+9C= (n.861+9C=)
19g.45804243G>TCA2585869011RSPH6Ac.1653+9C>A (n.1653+9C>A)
c.861+9C>A (n.861+9C>A)
 gnomAD v4
19g.45804244G>ACA2585869012RSPH6Ac.1653+8C>T (n.1653+8C>T)
c.861+8C>T (n.861+8C>T)
 gnomAD v4
19g.45804245C>ACA633359367RSPH6Ac.1653+7G>T (n.1653+7G>T)
c.861+7G>T (n.861+7G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45804245C=CA2338614939RSPH6Ac.1653+7G= (n.1653+7G=)
c.861+7G= (n.861+7G=)
19g.45804245C>TCA9522606RSPH6Ac.1653+7G>A (n.1653+7G>A)
c.861+7G>A (n.861+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804246G>ACA633359368RSPH6Ac.1653+6C>T (n.1653+6C>T)
c.861+6C>T (n.861+6C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45804246G=CA2338614940RSPH6Ac.1653+6C= (n.1653+6C=)
c.861+6C= (n.861+6C=)
19g.45804246G>TCA645607544RSPH6Ac.1653+6C>A (n.1653+6C>A)
c.861+6C>A (n.861+6C>A)
 COSMIC
19g.45804247C>GCA645607545RSPH6Ac.1653+5G>C (n.1653+5G>C)
c.861+5G>C (n.861+5G>C)
 COSMIC
19g.45804248T>CCA2585869013RSPH6Ac.1653+4A>G (n.1653+4A>G)
c.861+4A>G (n.861+4A>G)
 gnomAD v4
19g.45804250A=CA2338614941RSPH6Ac.1653+2T= (n.1653+2T=)
c.861+2T= (n.861+2T=)
19g.45804250A>CCA406404502RSPH6Ac.1653+2T>G (n.1653+2T>G)
c.861+2T>G (n.861+2T>G)
 dbSNP
19g.45804250A>GCA406404501RSPH6Ac.1653+2T>C (n.1653+2T>C)
c.861+2T>C (n.861+2T>C)
19g.45804250A>TCA406404499RSPH6Ac.1653+2T>A (n.1653+2T>A)
c.861+2T>A (n.861+2T>A)
19g.45804251C>ACA406404503RSPH6Ac.1653+1G>T (n.1653+1G>T)
c.861+1G>T (n.861+1G>T)
19g.45804251C>GCA406404505RSPH6Ac.1653+1G>C (n.1653+1G>C)
c.861+1G>C (n.861+1G>C)
19g.45804251C>TCA406404504RSPH6Ac.1653+1G>A (n.1653+1G>A)
c.861+1G>A (n.861+1G>A)
 gnomAD v4
19g.45804252C>ACA406404508RSPH6Ac.1653G>T (p.Gln551His)
c.861G>T (p.Gln287His)
 gnomAD v4
19g.45804252C>GCA406404510RSPH6Ac.1653G>C (p.Gln551His)
c.861G>C (p.Gln287His)
19g.45804252C>TCA507828549RSPH6Ac.1653G>A (p.Gln551=)
c.861G>A (p.Gln287=)
19g.45804253T>ACA9522607RSPH6Ac.1652A>T (p.Gln551Leu)
c.860A>T (p.Gln287Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804253T>CCA406404513RSPH6Ac.1652A>G (p.Gln551Arg)
c.860A>G (p.Gln287Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.45804253T>GCA406404515RSPH6Ac.1652A>C (p.Gln551Pro)
c.860A>C (p.Gln287Pro)
19g.45804253T=CA2338614942RSPH6Ac.1652A= (p.Gln551=)
c.860A= (p.Gln287=)
19g.45804254G>ACA406404516RSPH6Ac.1651C>T (p.Gln551Ter)
c.859C>T (p.Gln287Ter)
19g.45804254G>CCA406404518RSPH6Ac.1651C>G (p.Gln551Glu)
c.859C>G (p.Gln287Glu)
19g.45804254G>TCA406404520RSPH6Ac.1651C>A (p.Gln551Lys)
c.859C>A (p.Gln287Lys)
 gnomAD v4
19g.45804255C>ACA507828550RSPH6Ac.1650G>T (p.Pro550=)
c.858G>T (p.Pro286=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804255C=CA2338614943RSPH6Ac.1650G= (p.Pro550=)
c.858G= (p.Pro286=)
19g.45804255C>GCA507828551RSPH6Ac.1650G>C (p.Pro550=)
c.858G>C (p.Pro286=)
19g.45804255C>TCA9522608RSPH6Ac.1650G>A (p.Pro550=)
c.858G>A (p.Pro286=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804256G>ACA9522609RSPH6Ac.1649C>T (p.Pro550Leu)
c.857C>T (p.Pro286Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804256G>CCA9522610RSPH6Ac.1649C>G (p.Pro550Arg)
c.857C>G (p.Pro286Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804256G=CA2338614944RSPH6Ac.1649C= (p.Pro550=)
c.857C= (p.Pro286=)
19g.45804256G>TCA406404525RSPH6Ac.1649C>A (p.Pro550Gln)
c.857C>A (p.Pro286Gln)
19g.45804257G>ACA406404531RSPH6Ac.1648C>T (p.Pro550Ser)
c.856C>T (p.Pro286Ser)
19g.45804257G>CCA406404527RSPH6Ac.1648C>G (p.Pro550Ala)
c.856C>G (p.Pro286Ala)
19g.45804257G>TCA406404529RSPH6Ac.1648C>A (p.Pro550Thr)
c.856C>A (p.Pro286Thr)
19g.45804258C>ACA507828553RSPH6Ac.1647G>T (p.Leu549=)
c.855G>T (p.Leu285=)
 gnomAD v4
19g.45804258C>GCA507828554RSPH6Ac.1647G>C (p.Leu549=)
c.855G>C (p.Leu285=)
19g.45804258C>TCA507828555RSPH6Ac.1647G>A (p.Leu549=)
c.855G>A (p.Leu285=)
 gnomAD v4
19g.45804259A>CCA406404533RSPH6Ac.1646T>G (p.Leu549Arg)
c.854T>G (p.Leu285Arg)
19g.45804259A>GCA406404535RSPH6Ac.1646T>C (p.Leu549Pro)
c.854T>C (p.Leu285Pro)
19g.45804259A>TCA406404537RSPH6Ac.1646T>A (p.Leu549Gln)
c.854T>A (p.Leu285Gln)
19g.45804260G>ACA507828556RSPH6Ac.1645C>T (p.Leu549=)
c.853C>T (p.Leu285=)
19g.45804260G>CCA406404538RSPH6Ac.1645C>G (p.Leu549Val)
c.853C>G (p.Leu285Val)
19g.45804260G>TCA406404540RSPH6Ac.1645C>A (p.Leu549Met)
c.853C>A (p.Leu285Met)
19g.45804261G>ACA507828557RSPH6Ac.1644C>T (p.Ile548=)
c.852C>T (p.Ile284=)
 dbSNP
19g.45804261G>CCA406404542RSPH6Ac.1644C>G (p.Ile548Met)
c.852C>G (p.Ile284Met)
19g.45804261G=CA2338614945RSPH6Ac.1644C= (p.Ile548=)
c.852C= (p.Ile284=)
19g.45804261G>TCA507828558RSPH6Ac.1644C>A (p.Ile548=)
c.852C>A (p.Ile284=)
19g.45804262A>CCA406404544RSPH6Ac.1643T>G (p.Ile548Ser)
c.851T>G (p.Ile284Ser)
19g.45804262A>GCA406404546RSPH6Ac.1643T>C (p.Ile548Thr)
c.851T>C (p.Ile284Thr)
 gnomAD v4
19g.45804262A>TCA406404548RSPH6Ac.1643T>A (p.Ile548Asn)
c.851T>A (p.Ile284Asn)
19g.45804262dupCA2585869014RSPH6Ac.1643dup (p.Leu549ProfsTer30)
c.851dup (p.Leu285ProfsTer30)
 gnomAD v4
19g.45804263T>ACA406404550RSPH6Ac.1642A>T (p.Ile548Phe)
c.850A>T (p.Ile284Phe)
19g.45804263T>CCA406404552RSPH6Ac.1642A>G (p.Ile548Val)
c.850A>G (p.Ile284Val)
19g.45804263T>GCA406404554RSPH6Ac.1642A>C (p.Ile548Leu)
c.850A>C (p.Ile284Leu)
19g.45804264G>ACA507828559RSPH6Ac.1641C>T (p.His547=)
c.849C>T (p.His283=)
19g.45804264G>CCA406404556RSPH6Ac.1641C>G (p.His547Gln)
c.849C>G (p.His283Gln)
19g.45804264G>TCA406404558RSPH6Ac.1641C>A (p.His547Gln)
c.849C>A (p.His283Gln)
19g.45804265T>ACA406404560RSPH6Ac.1640A>T (p.His547Leu)
c.848A>T (p.His283Leu)
19g.45804265T>CCA406404562RSPH6Ac.1640A>G (p.His547Arg)
c.848A>G (p.His283Arg)
19g.45804265T>GCA406404564RSPH6Ac.1640A>C (p.His547Pro)
c.848A>C (p.His283Pro)
19g.45804265_45804268dupCA2814566574RSPH6Ac.1637_1640dup (p.His547GlnfsTer?)
c.845_848dup (p.His283GlnfsTer?)
19g.45804266G>ACA406404566RSPH6Ac.1639C>T (p.His547Tyr)
c.847C>T (p.His283Tyr)
19g.45804266G>CCA406404568RSPH6Ac.1639C>G (p.His547Asp)
c.847C>G (p.His283Asp)
19g.45804266G>TCA406404570RSPH6Ac.1639C>A (p.His547Asn)
c.847C>A (p.His283Asn)
19g.45804267C>ACA406404572RSPH6Ac.1638G>T (p.Gln546His)
c.846G>T (p.Gln282His)
19g.45804267C=CA2338614946RSPH6Ac.1638G= (p.Gln546=)
c.846G= (p.Gln282=)
19g.45804267C>GCA406404574RSPH6Ac.1638G>C (p.Gln546His)
c.846G>C (p.Gln282His)
19g.45804267C>TCA308997000RSPH6Ac.1638G>A (p.Gln546=)
c.846G>A (p.Gln282=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804267_45804269delinsCTGCA2338614947RSPH6Ac.1636_1638delinsCAG (p.Gln546=)
c.844_846delinsCAG (p.Gln282=)
19g.45804268T>ACA406404576RSPH6Ac.1637A>T (p.Gln546Leu)
c.845A>T (p.Gln282Leu)
19g.45804268T>CCA406404578RSPH6Ac.1637A>G (p.Gln546Arg)
c.845A>G (p.Gln282Arg)
19g.45804268T>GCA406404580RSPH6Ac.1637A>C (p.Gln546Pro)
c.845A>C (p.Gln282Pro)
19g.45804274_45804275delCA2338614948RSPH6Ac.1636_1637del (p.Gln546AlafsTer?)
c.844_845del (p.Gln282AlafsTer?)
 dbSNP
19g.45804269G>ACA406404584RSPH6Ac.1636C>T (p.Gln546Ter)
c.844C>T (p.Gln282Ter)
19g.45804269G>CCA406404586RSPH6Ac.1636C>G (p.Gln546Glu)
c.844C>G (p.Gln282Glu)
19g.45804269G>TCA406404582RSPH6Ac.1636C>A (p.Gln546Lys)
c.844C>A (p.Gln282Lys)
19g.45804270T>ACA507828561RSPH6Ac.1635A>T (p.Thr545=)
c.843A>T (p.Thr281=)
19g.45804270T>CCA507828562RSPH6Ac.1635A>G (p.Thr545=)
c.843A>G (p.Thr281=)
 gnomAD v4
19g.45804270T>GCA507828563RSPH6Ac.1635A>C (p.Thr545=)
c.843A>C (p.Thr281=)
19g.45804271G>ACA406404588RSPH6Ac.1634C>T (p.Thr545Ile)
c.842C>T (p.Thr281Ile)
19g.45804271G>CCA406404590RSPH6Ac.1634C>G (p.Thr545Arg)
c.842C>G (p.Thr281Arg)
19g.45804271G=CA2338614949RSPH6Ac.1634C= (p.Thr545=)
c.842C= (p.Thr281=)
19g.45804271G>TCA9522611RSPH6Ac.1634C>A (p.Thr545Lys)
c.842C>A (p.Thr281Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804272T>ACA406404593RSPH6Ac.1633A>T (p.Thr545Ser)
c.841A>T (p.Thr281Ser)
19g.45804272T>CCA406404595RSPH6Ac.1633A>G (p.Thr545Ala)
c.841A>G (p.Thr281Ala)
19g.45804272T>GCA406404597RSPH6Ac.1633A>C (p.Thr545Pro)
c.841A>C (p.Thr281Pro)
19g.45804273G>ACA507828564RSPH6Ac.1632C>T (p.His544=)
c.840C>T (p.His280=)
 gnomAD v4
19g.45804273G>CCA406404599RSPH6Ac.1632C>G (p.His544Gln)
c.840C>G (p.His280Gln)
19g.45804273G>TCA406404601RSPH6Ac.1632C>A (p.His544Gln)
c.840C>A (p.His280Gln)
19g.45804274T>ACA406404602RSPH6Ac.1631A>T (p.His544Leu)
c.839A>T (p.His280Leu)
19g.45804274T>CCA406404604RSPH6Ac.1631A>G (p.His544Arg)
c.839A>G (p.His280Arg)
 gnomAD v4
19g.45804274T>GCA406404606RSPH6Ac.1631A>C (p.His544Pro)
c.839A>C (p.His280Pro)
19g.45804275G>ACA406404608RSPH6Ac.1630C>T (p.His544Tyr)
c.838C>T (p.His280Tyr)
19g.45804275G>CCA406404611RSPH6Ac.1630C>G (p.His544Asp)
c.838C>G (p.His280Asp)
19g.45804275G>TCA406404612RSPH6Ac.1630C>A (p.His544Asn)
c.838C>A (p.His280Asn)
19g.45804276A>CCA406404614RSPH6Ac.1629T>G (p.His543Gln)
c.837T>G (p.His279Gln)
19g.45804276A>GCA507828565RSPH6Ac.1629T>C (p.His543=)
c.837T>C (p.His279=)
 dbSNP
19g.45804276A>TCA406404613RSPH6Ac.1629T>A (p.His543Gln)
c.837T>A (p.His279Gln)
19g.45804277T>ACA406404618RSPH6Ac.1628A>T (p.His543Leu)
c.836A>T (p.His279Leu)
19g.45804277T>CCA406404620RSPH6Ac.1628A>G (p.His543Arg)
c.836A>G (p.His279Arg)
19g.45804277T>GCA406404619RSPH6Ac.1628A>C (p.His543Pro)
c.836A>C (p.His279Pro)
19g.45804278G>ACA9522612RSPH6Ac.1627C>T (p.His543Tyr)
c.835C>T (p.His279Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804278G>CCA406404624RSPH6Ac.1627C>G (p.His543Asp)
c.835C>G (p.His279Asp)
19g.45804278G=CA2338614950RSPH6Ac.1627C= (p.His543=)
c.835C= (p.His279=)
19g.45804278G>TCA406404623RSPH6Ac.1627C>A (p.His543Asn)
c.835C>A (p.His279Asn)
19g.45804279C>ACA507828568RSPH6Ac.1626G>T (p.Val542=)
c.834G>T (p.Val278=)
19g.45804279C=CA2338614951RSPH6Ac.1626G= (p.Val542=)
c.834G= (p.Val278=)
19g.45804279C>GCA507828566RSPH6Ac.1626G>C (p.Val542=)
c.834G>C (p.Val278=)
 dbSNP
19g.45804279C>TCA507828567RSPH6Ac.1626G>A (p.Val542=)
c.834G>A (p.Val278=)
 dbSNP gnomAD v2
19g.45804280A=CA2338614952RSPH6Ac.1625T= (p.Val542=)
c.833T= (p.Val278=)
19g.45804280A>CCA406404627RSPH6Ac.1625T>G (p.Val542Gly)
c.833T>G (p.Val278Gly)
 gnomAD v4
19g.45804280A>GCA308997004RSPH6Ac.1625T>C (p.Val542Ala)
c.833T>C (p.Val278Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45804280A>TCA406404628RSPH6Ac.1625T>A (p.Val542Glu)
c.833T>A (p.Val278Glu)
19g.45804281C>ACA406404632RSPH6Ac.1624G>T (p.Val542Leu)
c.832G>T (p.Val278Leu)
 gnomAD v4
19g.45804281C>GCA406404634RSPH6Ac.1624G>C (p.Val542Leu)
c.832G>C (p.Val278Leu)
19g.45804281C>TCA406404633RSPH6Ac.1624G>A (p.Val542Met)
c.832G>A (p.Val278Met)
19g.45804283delCA2576820671RSPH6Ac.1624del (p.Val542CysfsTer16)
c.832del (p.Val278CysfsTer16)
19g.45804282C>ACA406404635RSPH6Ac.1623G>T (p.Trp541Cys)
c.831G>T (p.Trp277Cys)
19g.45804282C>GCA406404636RSPH6Ac.1623G>C (p.Trp541Cys)
c.831G>C (p.Trp277Cys)
19g.45804282C>TCA406404637RSPH6Ac.1623G>A (p.Trp541Ter)
c.831G>A (p.Trp277Ter)
19g.45804283C>ACA406404638RSPH6Ac.1622G>T (p.Trp541Leu)
c.830G>T (p.Trp277Leu)
19g.45804283C=CA2338614953RSPH6Ac.1622G= (p.Trp541=)
c.830G= (p.Trp277=)
19g.45804283C>GCA406404639RSPH6Ac.1622G>C (p.Trp541Ser)
c.830G>C (p.Trp277Ser)
19g.45804283C>TCA9522613RSPH6Ac.1622G>A (p.Trp541Ter)
c.830G>A (p.Trp277Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804284A=CA2338614954RSPH6Ac.1621T= (p.Trp541=)
c.829T= (p.Trp277=)
19g.45804284A>CCA406404642RSPH6Ac.1621T>G (p.Trp541Gly)
c.829T>G (p.Trp277Gly)
19g.45804284A>GCA406404640RSPH6Ac.1621T>C (p.Trp541Arg)
c.829T>C (p.Trp277Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804284A>TCA406404641RSPH6Ac.1621T>A (p.Trp541Arg)
c.829T>A (p.Trp277Arg)
19g.45804285G>ACA507828569RSPH6Ac.1620C>T (p.Asn540=)
c.828C>T (p.Asn276=)
 dbSNP gnomAD v2
19g.45804285G>CCA406404643RSPH6Ac.1620C>G (p.Asn540Lys)
c.828C>G (p.Asn276Lys)
19g.45804285G=CA2338614955RSPH6Ac.1620C= (p.Asn540=)
c.828C= (p.Asn276=)
19g.45804285G>TCA406404644RSPH6Ac.1620C>A (p.Asn540Lys)
c.828C>A (p.Asn276Lys)
19g.45804286T>ACA406404645RSPH6Ac.1619A>T (p.Asn540Ile)
c.827A>T (p.Asn276Ile)
 gnomAD v4
19g.45804286T>CCA9522615RSPH6Ac.1619A>G (p.Asn540Ser)
c.827A>G (p.Asn276Ser)
 dbSNP ExAC gnomAD v2
19g.45804286T>GCA9522614RSPH6Ac.1619A>C (p.Asn540Thr)
c.827A>C (p.Asn276Thr)
 dbSNP ExAC gnomAD v2
19g.45804286T=CA2338614956RSPH6Ac.1619A= (p.Asn540=)
c.827A= (p.Asn276=)
19g.45804287T>ACA406404648RSPH6Ac.1618A>T (p.Asn540Tyr)
c.826A>T (p.Asn276Tyr)
19g.45804287T>CCA406404646RSPH6Ac.1618A>G (p.Asn540Asp)
c.826A>G (p.Asn276Asp)
19g.45804287T>GCA406404647RSPH6Ac.1618A>C (p.Asn540His)
c.826A>C (p.Asn276His)
19g.45804288G>ACA507828570RSPH6Ac.1617C>T (p.Ala539=)
c.825C>T (p.Ala275=)
19g.45804288G>CCA507828571RSPH6Ac.1617C>G (p.Ala539=)
c.825C>G (p.Ala275=)
19g.45804288G=CA2338614957RSPH6Ac.1617C= (p.Ala539=)
c.825C= (p.Ala275=)
19g.45804288G>TCA507828572RSPH6Ac.1617C>A (p.Ala539=)
c.825C>A (p.Ala275=)
 dbSNP gnomAD v2 gnomAD v4
19g.45804289G>ACA308997009RSPH6Ac.1616C>T (p.Ala539Val)
c.824C>T (p.Ala275Val)
 dbSNP
19g.45804289G>CCA406404649RSPH6Ac.1616C>G (p.Ala539Gly)
c.824C>G (p.Ala275Gly)
19g.45804289G=CA2338614958RSPH6Ac.1616C= (p.Ala539=)
c.824C= (p.Ala275=)
19g.45804289G>TCA406404650RSPH6Ac.1616C>A (p.Ala539Asp)
c.824C>A (p.Ala275Asp)
19g.45804290C>ACA406404651RSPH6Ac.1615G>T (p.Ala539Ser)
c.823G>T (p.Ala275Ser)
19g.45804290C>GCA406404652RSPH6Ac.1615G>C (p.Ala539Pro)
c.823G>C (p.Ala275Pro)
19g.45804290C>TCA406404653RSPH6Ac.1615G>A (p.Ala539Thr)
c.823G>A (p.Ala275Thr)
19g.45804291C>ACA406404654RSPH6Ac.1614G>T (p.Met538Ile)
c.822G>T (p.Met274Ile)
19g.45804291C>GCA406404655RSPH6Ac.1614G>C (p.Met538Ile)
c.822G>C (p.Met274Ile)
19g.45804291C>TCA406404656RSPH6Ac.1614G>A (p.Met538Ile)
c.822G>A (p.Met274Ile)
19g.45804291_45804297delCA2585869015RSPH6Ac.1608_1614del (p.Asp536GlufsTer20)
c.816_822del (p.Asp272GlufsTer20)
 gnomAD v4
19g.45804292A=CA2338614959RSPH6Ac.1613T= (p.Met538=)
c.821T= (p.Met274=)
19g.45804292A>CCA406404657RSPH6Ac.1613T>G (p.Met538Arg)
c.821T>G (p.Met274Arg)
19g.45804292A>GCA9522616RSPH6Ac.1613T>C (p.Met538Thr)
c.821T>C (p.Met274Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804292A>TCA406404658RSPH6Ac.1613T>A (p.Met538Lys)
c.821T>A (p.Met274Lys)
 dbSNP gnomAD v4
19g.45804293T>ACA406404659RSPH6Ac.1612A>T (p.Met538Leu)
c.820A>T (p.Met274Leu)
19g.45804293T>CCA9522617RSPH6Ac.1612A>G (p.Met538Val)
c.820A>G (p.Met274Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804293T>GCA9522618RSPH6Ac.1612A>C (p.Met538Leu)
c.820A>C (p.Met274Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804293T=CA2338614960RSPH6Ac.1612A= (p.Met538=)
c.820A= (p.Met274=)
19g.45804294G>ACA507828573RSPH6Ac.1611C>T (p.Ser537=)
c.819C>T (p.Ser273=)
19g.45804294G>CCA507828574RSPH6Ac.1611C>G (p.Ser537=)
c.819C>G (p.Ser273=)
19g.45804294G>TCA507828575RSPH6Ac.1611C>A (p.Ser537=)
c.819C>A (p.Ser273=)
19g.45804295G>ACA406404660RSPH6Ac.1610C>T (p.Ser537Phe)
c.818C>T (p.Ser273Phe)
 COSMIC
19g.45804295G>CCA406404661RSPH6Ac.1610C>G (p.Ser537Cys)
c.818C>G (p.Ser273Cys)
 COSMIC
19g.45804295G>TCA406404662RSPH6Ac.1610C>A (p.Ser537Tyr)
c.818C>A (p.Ser273Tyr)
19g.45804296A=CA2338614961RSPH6Ac.1609T= (p.Ser537=)
c.817T= (p.Ser273=)
19g.45804296A>CCA406404663RSPH6Ac.1609T>G (p.Ser537Ala)
c.817T>G (p.Ser273Ala)
19g.45804296A>GCA9522619RSPH6Ac.1609T>C (p.Ser537Pro)
c.817T>C (p.Ser273Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804296A>TCA406404664RSPH6Ac.1609T>A (p.Ser537Thr)
c.817T>A (p.Ser273Thr)
19g.45804297G>ACA507828576RSPH6Ac.1608C>T (p.Asp536=)
c.816C>T (p.Asp272=)
19g.45804297G>CCA406404665RSPH6Ac.1608C>G (p.Asp536Glu)
c.816C>G (p.Asp272Glu)
19g.45804297G>TCA406404666RSPH6Ac.1608C>A (p.Asp536Glu)
c.816C>A (p.Asp272Glu)
19g.45804298T>ACA406404667RSPH6Ac.1607A>T (p.Asp536Val)
c.815A>T (p.Asp272Val)
19g.45804298T>CCA406404668RSPH6Ac.1607A>G (p.Asp536Gly)
c.815A>G (p.Asp272Gly)
19g.45804298T>GCA406404669RSPH6Ac.1607A>C (p.Asp536Ala)
c.815A>C (p.Asp272Ala)
19g.45804299C>ACA406404672RSPH6Ac.1606G>T (p.Asp536Tyr)
c.814G>T (p.Asp272Tyr)
19g.45804299C=CA2338614962RSPH6Ac.1606G= (p.Asp536=)
c.814G= (p.Asp272=)
19g.45804299C>GCA406404671RSPH6Ac.1606G>C (p.Asp536His)
c.814G>C (p.Asp272His)
19g.45804299C>TCA406404670RSPH6Ac.1606G>A (p.Asp536Asn)
c.814G>A (p.Asp272Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45804300G>ACA9522620RSPH6Ac.1605C>T (p.Val535=)
c.813C>T (p.Val271=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804300G>CCA507828578RSPH6Ac.1605C>G (p.Val535=)
c.813C>G (p.Val271=)
19g.45804300G=CA2338614963RSPH6Ac.1605C= (p.Val535=)
c.813C= (p.Val271=)
19g.45804300G>TCA507828577RSPH6Ac.1605C>A (p.Val535=)
c.813C>A (p.Val271=)
 gnomAD v4
19g.45804301A>CCA406404673RSPH6Ac.1604T>G (p.Val535Gly)
c.812T>G (p.Val271Gly)
19g.45804301A>GCA406404674RSPH6Ac.1604T>C (p.Val535Ala)
c.812T>C (p.Val271Ala)
19g.45804301A>TCA406404675RSPH6Ac.1604T>A (p.Val535Asp)
c.812T>A (p.Val271Asp)
19g.45804302C>ACA406404676RSPH6Ac.1603G>T (p.Val535Phe)
c.811G>T (p.Val271Phe)
19g.45804302C>GCA406404677RSPH6Ac.1603G>C (p.Val535Leu)
c.811G>C (p.Val271Leu)
19g.45804302C>TCA406404678RSPH6Ac.1603G>A (p.Val535Ile)
c.811G>A (p.Val271Ile)
 gnomAD v4
19g.45804303C>ACA507828579RSPH6Ac.1602G>T (p.Leu534=)
c.810G>T (p.Leu270=)
19g.45804303C>GCA507828580RSPH6Ac.1602G>C (p.Leu534=)
c.810G>C (p.Leu270=)
19g.45804303C>TCA507828581RSPH6Ac.1602G>A (p.Leu534=)
c.810G>A (p.Leu270=)
19g.45804304A>CCA406404679RSPH6Ac.1601T>G (p.Leu534Arg)
c.809T>G (p.Leu270Arg)
19g.45804304A>GCA406404680RSPH6Ac.1601T>C (p.Leu534Pro)
c.809T>C (p.Leu270Pro)
19g.45804304A>TCA406404681RSPH6Ac.1601T>A (p.Leu534Gln)
c.809T>A (p.Leu270Gln)
19g.45804305G>ACA507828582RSPH6Ac.1600C>T (p.Leu534=)
c.808C>T (p.Leu270=)
19g.45804305G>CCA406404682RSPH6Ac.1600C>G (p.Leu534Val)
c.808C>G (p.Leu270Val)
19g.45804305G=CA2338614964RSPH6Ac.1600C= (p.Leu534=)
c.808C= (p.Leu270=)
19g.45804305G>TCA9522621RSPH6Ac.1600C>A (p.Leu534Met)
c.808C>A (p.Leu270Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45804306C>ACA406404683RSPH6Ac.1599G>T (p.Glu533Asp)
c.807G>T (p.Glu269Asp)
19g.45804306C>GCA406404684RSPH6Ac.1599G>C (p.Glu533Asp)
c.807G>C (p.Glu269Asp)
19g.45804306C>TCA507828583RSPH6Ac.1599G>A (p.Glu533=)
c.807G>A (p.Glu269=)
 gnomAD v4
19g.45804307T>ACA406404685RSPH6Ac.1598A>T (p.Glu533Val)
c.806A>T (p.Glu269Val)
19g.45804307T>CCA406404686RSPH6Ac.1598A>G (p.Glu533Gly)
c.806A>G (p.Glu269Gly)
19g.45804307T>GCA9522622RSPH6Ac.1598A>C (p.Glu533Ala)
c.806A>C (p.Glu269Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45804307T=CA2338614965RSPH6Ac.1598A= (p.Glu533=)
c.806A= (p.Glu269=)
19g.45804308C>ACA406404687RSPH6Ac.1597G>T (p.Glu533Ter)
c.805G>T (p.Glu269Ter)
19g.45804308C=CA2338614966RSPH6Ac.1597G= (p.Glu533=)
c.805G= (p.Glu269=)
19g.45804308C>GCA406404688RSPH6Ac.1597G>C (p.Glu533Gln)
c.805G>C (p.Glu269Gln)
19g.45804308C>TCA9522623RSPH6Ac.1597G>A (p.Glu533Lys)
c.805G>A (p.Glu269Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched